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    SLMAP sarcolemma associated protein [ Homo sapiens (human) ]

    Gene ID: 7871, updated on 3-Apr-2024

    Summary

    Official Symbol
    SLMAPprovided by HGNC
    Official Full Name
    sarcolemma associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:16643
    See related
    Ensembl:ENSG00000163681 MIM:602701; AllianceGenome:HGNC:16643
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SLAP
    Summary
    This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
    Expression
    Ubiquitous expression in heart (RPKM 29.5), esophagus (RPKM 29.0) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    3p14.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (57756309..57930013)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (57796684..57970383)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57742036..57915740)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 12 Neighboring gene DENN domain containing 6A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14481 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:57678132-57678632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14483 Neighboring gene DENND6A divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:57737311-57738510 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:57741142-57742044 and GRCh37_chr3:57742045-57742946 Neighboring gene MPRA-validated peak4671 silencer Neighboring gene PDHA1 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:57817423-57817924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19997 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:57859291-57859792 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:57859793-57860292 Neighboring gene uncharacterized LOC105377103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57944346-57944927 Neighboring gene uncharacterized LOC105377104 Neighboring gene PPIAP16-FLNB intergenic CAGE-defined mid-level expression enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57946764-57947718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57947719-57948671 Neighboring gene Sharpr-MPRA regulatory region 380 Neighboring gene peptidylprolyl isomerase A pseudogene 16 Neighboring gene uncharacterized LOC124909385 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57958837-57959340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57959341-57959842 Neighboring gene PPIAP16-FLNB intergenic CAGE-defined low expression enhancer

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42206, KIAA1601, MGC138760, MGC138761

    General protein information

    Preferred Names
    sarcolemmal membrane-associated protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042789.1 RefSeqGene

      Range
      4054..177748
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304420.3NP_001291349.1  sarcolemmal membrane-associated protein isoform a

      See identical proteins and their annotated locations for NP_001291349.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AC099777, AC114480
      Consensus CDS
      CCDS77757.1
      UniProtKB/Swiss-Prot
      Q14BN4, Q14C95, Q6AI54, Q6UXC9, Q6ZVQ8, Q8NCW9, Q9H297, Q9HCH1, Q9Y681
      UniProtKB/TrEMBL
      A0A994J562
      Related
      ENSP00000499241.1, ENST00000659705.1
      Conserved Domains (4) summary
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:156795
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl19219
      Location:601679
      DUF342; Protein of unknown function (DUF342)
    2. NM_001304421.2NP_001291350.1  sarcolemmal membrane-associated protein isoform c

      See identical proteins and their annotated locations for NP_001291350.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AC099777, AW292835, AY358410, BC114627, BC115701, BF508478, BQ022030
      Consensus CDS
      CCDS77758.1
      UniProtKB/TrEMBL
      A0A994J562
      Related
      ENSP00000412945.2, ENST00000449503.6
      Conserved Domains (3) summary
      COG1196
      Location:161757
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    3. NM_001304422.3NP_001291351.1  sarcolemmal membrane-associated protein isoform d

      See identical proteins and their annotated locations for NP_001291351.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (d) with a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC099777, AK304493, BQ022030
      UniProtKB/TrEMBL
      B7Z964, H7BZK0
      Conserved Domains (1) summary
      cl19219
      Location:135213
      DUF342; Protein of unknown function (DUF342)
    4. NM_001304423.3NP_001291352.1  sarcolemmal membrane-associated protein isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter, and lacks two alternate in-frame exons in the 3' coding region, compared to variant 1 compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded isoform (e) is shorter than isoform a.
      Source sequence(s)
      AC099777, AK300106, BQ022030
      UniProtKB/TrEMBL
      B7Z6C7
      Conserved Domains (1) summary
      COG1196
      Location:4263
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    5. NM_001311178.2NP_001298107.1  sarcolemmal membrane-associated protein isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents use of an alternate promoter, differs in the 5' UTR, and has multiple coding region differences that result in use of a downstream translation initiation codon and a novel 3' coding region compared to variant 1. It encodes isoform f, which has a shorter N-terminus and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AA625308, AB046821, AC099777, AF304450, AL834538, BF508478, DB100357
      Consensus CDS
      CCDS93301.1
      UniProtKB/TrEMBL
      H7BZK0
      Related
      ENSP00000418218.2, ENST00000494088.6
      Conserved Domains (1) summary
      cl19219
      Location:135213
      DUF342; Protein of unknown function (DUF342)
    6. NM_001311179.2NP_001298108.1  sarcolemmal membrane-associated protein isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) represents use of an alternate promoter, differs in the 5' UTR, uses a downstream translation initiation codon, and has a novel 3'-terminal exon compared to variant 1. It encodes isoform g, which has a shorter N-terminus and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC099777, BQ771573, CR627321, DB100357
      UniProtKB/Swiss-Prot
      Q14BN4
      Conserved Domains (1) summary
      cl19219
      Location:94172
      DUF342; Protein of unknown function (DUF342)
    7. NM_001377538.1NP_001364467.1  sarcolemmal membrane-associated protein isoform h

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      Consensus CDS
      CCDS93295.1
      UniProtKB/TrEMBL
      A0A994J5K5, A0A994J7V1
      Related
      ENSP00000516144.1, ENST00000705628.1
      Conserved Domains (3) summary
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:163819
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    8. NM_001377539.1NP_001364468.1  sarcolemmal membrane-associated protein isoform i

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A994J7V1
      Related
      ENSP00000516151.1, ENST00000705652.1
      Conserved Domains (3) summary
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:163812
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    9. NM_001377540.1NP_001364469.1  sarcolemmal membrane-associated protein isoform j

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      Consensus CDS
      CCDS93296.1
      UniProtKB/TrEMBL
      A0A590UJK3, A0A994J7V1
      Related
      ENSP00000499458.1, ENST00000671191.1
      Conserved Domains (3) summary
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:163812
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    10. NM_001377541.1NP_001364470.1  sarcolemmal membrane-associated protein isoform k

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A994J4X9
      Conserved Domains (3) summary
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:156795
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    11. NM_001377542.1NP_001364471.1  sarcolemmal membrane-associated protein isoform q

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A590UJP6
      Conserved Domains (3) summary
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:156795
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    12. NM_001377545.1NP_001364474.1  sarcolemmal membrane-associated protein isoform l

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A590UJP6
      Conserved Domains (3) summary
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:163791
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    13. NM_001377549.1NP_001364478.1  sarcolemmal membrane-associated protein isoform n

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A590UJP6
      Conserved Domains (3) summary
      COG1196
      Location:161778
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    14. NM_001377551.1NP_001364480.1  sarcolemmal membrane-associated protein isoform aa

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      Consensus CDS
      CCDS93298.1
      UniProtKB/TrEMBL
      A0A590UJS6, A0A994J558, A0A994J562
      Related
      ENSP00000499553.2, ENST00000670768.2
      Conserved Domains (3) summary
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:156774
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    15. NM_001377552.1NP_001364481.1  sarcolemmal membrane-associated protein isoform o

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      Consensus CDS
      CCDS93297.1
      UniProtKB/TrEMBL
      A0A994J4X9, H7C3M8
      Related
      ENSP00000412829.3, ENST00000417128.7
      Conserved Domains (3) summary
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:156774
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    16. NM_001377555.1NP_001364484.1  sarcolemmal membrane-associated protein isoform p

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A590UJP6
      Conserved Domains (3) summary
      COG1196
      Location:161771
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    17. NM_001377557.1NP_001364486.1  sarcolemmal membrane-associated protein isoform c

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      Consensus CDS
      CCDS77758.1
      UniProtKB/TrEMBL
      A0A994J562
      Related
      ENSP00000516150.1, ENST00000705651.1
      Conserved Domains (3) summary
      COG1196
      Location:161757
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    18. NM_001377559.1NP_001364488.1  sarcolemmal membrane-associated protein isoform r

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A994J4X9
      Conserved Domains (3) summary
      COG1196
      Location:161757
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    19. NM_001377562.1NP_001364491.1  sarcolemmal membrane-associated protein isoform bb

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A994J4X9
      Conserved Domains (3) summary
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:156754
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    20. NM_001377921.1NP_001364850.1  sarcolemmal membrane-associated protein isoform s

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      Consensus CDS
      CCDS93299.1
      UniProtKB/TrEMBL
      A0A590UJP6, H7C5G9
      Related
      ENSP00000419849.2, ENST00000465203.6
      Conserved Domains (3) summary
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:156754
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    21. NM_001377922.1NP_001364851.1  sarcolemmal membrane-associated protein isoform t

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A590UJP6
      Related
      ENSP00000499520.2, ENST00000475055.2
      Conserved Domains (3) summary
      COG1196
      Location:161750
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    22. NM_001377923.1NP_001364852.1  sarcolemmal membrane-associated protein isoform u

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A590UJP6
      Conserved Domains (3) summary
      COG1196
      Location:161737
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    23. NM_001377924.1NP_001364853.1  sarcolemmal membrane-associated protein isoform v

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      UniProtKB/TrEMBL
      A0A590UJP6
      Conserved Domains (3) summary
      COG0419
      Location:167734
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    24. NM_001377925.1NP_001364854.1  sarcolemmal membrane-associated protein isoform w

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      Consensus CDS
      CCDS93300.1
      UniProtKB/TrEMBL
      A0A5F9VB99, A0A994J4X9
      Related
      ENSP00000398661.2, ENST00000428312.6
      Conserved Domains (3) summary
      COG0419
      Location:167717
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd21911
      Location:163225
      CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein
    25. NM_001377926.1NP_001364855.1  sarcolemmal membrane-associated protein isoform x

      Status: REVIEWED

      Source sequence(s)
      AC099777
      UniProtKB/TrEMBL
      B7Z6C7
      Conserved Domains (1) summary
      COG1196
      Location:20288
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    26. NM_001377927.1NP_001364856.1  sarcolemmal membrane-associated protein isoform y

      Status: REVIEWED

      Source sequence(s)
      AC099777
      UniProtKB/TrEMBL
      B7Z6C7, B7Z863
      Conserved Domains (1) summary
      COG1196
      Location:20288
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    27. NM_001377928.1NP_001364857.1  sarcolemmal membrane-associated protein isoform z

      Status: REVIEWED

      Source sequence(s)
      AC099777
      Conserved Domains (1) summary
      COG1196
      Location:3190
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    28. NM_007159.5NP_009090.2  sarcolemmal membrane-associated protein isoform b

      See identical proteins and their annotated locations for NP_009090.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC099777, AC114480
      Consensus CDS
      CCDS33774.1
      UniProtKB/TrEMBL
      A0A994J558
      Related
      ENSP00000295951.3, ENST00000295951.7
      Conserved Domains (5) summary
      COG1196
      Location:161778
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl19219
      Location:584662
      DUF342; Protein of unknown function (DUF342)
      cl23720
      Location:477572
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    RNA

    1. NR_165328.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC099777, AC114480
      Related
      ENST00000659926.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      57756309..57930013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265456.5XP_005265513.1  sarcolemmal membrane-associated protein isoform X1

      UniProtKB/TrEMBL
      A0A994J7V1
      Conserved Domains (5) summary
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:165814
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl19219
      Location:620698
      DUF342; Protein of unknown function (DUF342)
      cl23720
      Location:513608
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    2. XM_005265468.5XP_005265525.1  sarcolemmal membrane-associated protein isoform X12

      UniProtKB/TrEMBL
      A0A994J7V1
      Conserved Domains (4) summary
      COG1196
      Location:163773
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl19219
      Location:579657
      DUF342; Protein of unknown function (DUF342)
    3. XM_005265462.5XP_005265519.1  sarcolemmal membrane-associated protein isoform X6

      UniProtKB/TrEMBL
      A0A994J7V1
      Conserved Domains (4) summary
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:165793
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl19219
      Location:599677
      DUF342; Protein of unknown function (DUF342)
    4. XM_005265459.5XP_005265516.1  sarcolemmal membrane-associated protein isoform X3

      UniProtKB/TrEMBL
      A0A994J562
      Conserved Domains (4) summary
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:158797
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl19219
      Location:603681
      DUF342; Protein of unknown function (DUF342)
    5. XM_017007159.3XP_016862648.1  sarcolemmal membrane-associated protein isoform X16

      UniProtKB/TrEMBL
      A0A994J4X9
    6. XM_005265467.5XP_005265524.1  sarcolemmal membrane-associated protein isoform X9

      UniProtKB/TrEMBL
      A0A994J558, A0A994J562
      Conserved Domains (4) summary
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:158776
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl19219
      Location:582660
      DUF342; Protein of unknown function (DUF342)
    7. XM_005265472.5XP_005265529.1  sarcolemmal membrane-associated protein isoform X19

      UniProtKB/TrEMBL
      A0A590UJP6
      Conserved Domains (4) summary
      COG0419
      Location:169736
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl19219
      Location:541619
      DUF342; Protein of unknown function (DUF342)
    8. XM_005265460.5XP_005265517.1  sarcolemmal membrane-associated protein isoform X4

      UniProtKB/TrEMBL
      A0A994J558
      Conserved Domains (5) summary
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:158797
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl19219
      Location:603681
      DUF342; Protein of unknown function (DUF342)
      cl23720
      Location:496591
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    9. XM_011534103.3XP_011532405.1  sarcolemmal membrane-associated protein isoform X10

      UniProtKB/TrEMBL
      A0A994J558
      Conserved Domains (5) summary
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02168
      Location:165776
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl19219
      Location:582660
      DUF342; Protein of unknown function (DUF342)
      cl23720
      Location:475570
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    10. XM_005265465.5XP_005265522.1  sarcolemmal membrane-associated protein isoform X8

      UniProtKB/TrEMBL
      A0A994J558
      Conserved Domains (5) summary
      COG1196
      Location:163780
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl19219
      Location:586664
      DUF342; Protein of unknown function (DUF342)
      cl23720
      Location:479574
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    11. XM_005265470.5XP_005265527.1  sarcolemmal membrane-associated protein isoform X14

      UniProtKB/TrEMBL
      A0A994J562
      Conserved Domains (4) summary
      COG1196
      Location:163759
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl19219
      Location:565643
      DUF342; Protein of unknown function (DUF342)
    12. XM_011534105.3XP_011532407.1  sarcolemmal membrane-associated protein isoform X21

      UniProtKB/TrEMBL
      A0A994J4X9
      Conserved Domains (4) summary
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      pfam00038
      Location:295616
      Filament; Intermediate filament protein
      cl19219
      Location:524602
      DUF342; Protein of unknown function (DUF342)
    13. XM_017007155.3XP_016862644.1  sarcolemmal membrane-associated protein isoform X13

      UniProtKB/TrEMBL
      A0A994J7V1
    14. XM_047448889.1XP_047304845.1  sarcolemmal membrane-associated protein isoform X7

    15. XM_017007161.3XP_016862650.1  sarcolemmal membrane-associated protein isoform X17

      UniProtKB/TrEMBL
      A0A994J5K8
    16. XM_047448892.1XP_047304848.1  sarcolemmal membrane-associated protein isoform X20

    17. XM_017007147.3XP_016862636.1  sarcolemmal membrane-associated protein isoform X5

      UniProtKB/TrEMBL
      A0A994J558
    18. XM_047448890.1XP_047304846.1  sarcolemmal membrane-associated protein isoform X11

      Related
      ENSP00000516145.1, ENST00000705629.1
    19. XM_006713326.4XP_006713389.1  sarcolemmal membrane-associated protein isoform X18

      UniProtKB/TrEMBL
      A0A590UJP6
      Conserved Domains (4) summary
      COG1196
      Location:161737
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG1716
      Location:46109
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:14108
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl19219
      Location:543621
      DUF342; Protein of unknown function (DUF342)
    20. XM_047448893.1XP_047304849.1  sarcolemmal membrane-associated protein isoform X22

      Related
      ENSP00000516149.1, ENST00000705650.1
    21. XM_047448888.1XP_047304844.1  sarcolemmal membrane-associated protein isoform X2

      Related
      ENSP00000391886.2, ENST00000438794.6
    22. XM_047448891.1XP_047304847.1  sarcolemmal membrane-associated protein isoform X15

      Related
      ENSP00000516147.1, ENST00000705648.1
    23. XM_017007169.3XP_016862658.1  sarcolemmal membrane-associated protein isoform X24

      UniProtKB/TrEMBL
      A0A590UJU9
      Related
      ENSP00000516148.1, ENST00000705649.1
    24. XM_047448895.1XP_047304851.1  sarcolemmal membrane-associated protein isoform X25

    25. XM_047448896.1XP_047304852.1  sarcolemmal membrane-associated protein isoform X26

      Related
      ENSP00000373224.3, ENST00000383718.7
    26. XM_047448894.1XP_047304850.1  sarcolemmal membrane-associated protein isoform X23

    27. XM_011534106.3XP_011532408.1  sarcolemmal membrane-associated protein isoform X27

      See identical proteins and their annotated locations for XP_011532408.1

      UniProtKB/TrEMBL
      B7Z964, H7BZK0
      Conserved Domains (1) summary
      cl19219
      Location:135213
      DUF342; Protein of unknown function (DUF342)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      57796684..57970383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347800.1XP_054203775.1  sarcolemmal membrane-associated protein isoform X1

    2. XM_054347811.1XP_054203786.1  sarcolemmal membrane-associated protein isoform X12

    3. XM_054347805.1XP_054203780.1  sarcolemmal membrane-associated protein isoform X6

    4. XM_054347802.1XP_054203777.1  sarcolemmal membrane-associated protein isoform X3

    5. XM_054347815.1XP_054203790.1  sarcolemmal membrane-associated protein isoform X16

    6. XM_054347808.1XP_054203783.1  sarcolemmal membrane-associated protein isoform X9

    7. XM_054347818.1XP_054203793.1  sarcolemmal membrane-associated protein isoform X19

    8. XM_054347803.1XP_054203778.1  sarcolemmal membrane-associated protein isoform X4

    9. XM_054347809.1XP_054203784.1  sarcolemmal membrane-associated protein isoform X10

    10. XM_054347807.1XP_054203782.1  sarcolemmal membrane-associated protein isoform X8

    11. XM_054347813.1XP_054203788.1  sarcolemmal membrane-associated protein isoform X14

    12. XM_054347820.1XP_054203795.1  sarcolemmal membrane-associated protein isoform X21

    13. XM_054347812.1XP_054203787.1  sarcolemmal membrane-associated protein isoform X13

    14. XM_054347806.1XP_054203781.1  sarcolemmal membrane-associated protein isoform X7

    15. XM_054347816.1XP_054203791.1  sarcolemmal membrane-associated protein isoform X17

    16. XM_054347819.1XP_054203794.1  sarcolemmal membrane-associated protein isoform X20

    17. XM_054347804.1XP_054203779.1  sarcolemmal membrane-associated protein isoform X5

    18. XM_054347810.1XP_054203785.1  sarcolemmal membrane-associated protein isoform X11

    19. XM_054347817.1XP_054203792.1  sarcolemmal membrane-associated protein isoform X18

    20. XM_054347821.1XP_054203796.1  sarcolemmal membrane-associated protein isoform X22

    21. XM_054347801.1XP_054203776.1  sarcolemmal membrane-associated protein isoform X2

    22. XM_054347814.1XP_054203789.1  sarcolemmal membrane-associated protein isoform X15

    23. XM_054347823.1XP_054203798.1  sarcolemmal membrane-associated protein isoform X24

    24. XM_054347824.1XP_054203799.1  sarcolemmal membrane-associated protein isoform X25

    25. XM_054347825.1XP_054203800.1  sarcolemmal membrane-associated protein isoform X26

    26. XM_054347822.1XP_054203797.1  sarcolemmal membrane-associated protein isoform X23

    27. XM_054347826.1XP_054203801.1  sarcolemmal membrane-associated protein isoform X27

      UniProtKB/TrEMBL
      B7Z964