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SLMAP sarcolemma associated protein [ Homo sapiens (human) ]

Gene ID: 7871, updated on 5-Jan-2022

Summary

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Official Symbol
SLMAPprovided by HGNC
Official Full Name
sarcolemma associated proteinprovided by HGNC
Primary source
HGNC:HGNC:16643
See related
Ensembl:ENSG00000163681 MIM:602701
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
mouse all
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Genomic context

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See SLMAP in Genome Data Viewer
Location:
3p14.3
Exon count:
27
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (57756229..57930013)
105.20201022 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 DENND6A divergent transcript Neighboring gene PDHA1 pseudogene 1 Neighboring gene uncharacterized LOC105377103 Neighboring gene uncharacterized LOC105377104 Neighboring gene PPIAP16-FLNB intergenic CAGE-defined mid-level expression enhancer Neighboring gene peptidylprolyl isomerase A pseudogene 16

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Role of SLMAP genetic variants in susceptibility of diabetes and diabetic retinopathy in Qatari population. Upadhyay R, et al. J Transl Med, 2015 Feb 15. PMID 25880194, Free PMC Article
  2. A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5. Ishikawa T, et al. Circ Arrhythm Electrophysiol, 2012 Dec. PMID 23064965
  3. Regulated expression and temporal induction of the tail-anchored sarcolemmal-membrane-associated protein is critical for myoblast fusion. Guzzo RM, et al. Biochem J, 2004 Aug 1. PMID 15086317, Free PMC Article
  4. Molecular cloning, expression, and chromosomal assignment of sarcolemmal-associated proteins. A family of acidic amphipathic alpha-helical proteins associated with the membrane. Wigle JT, et al. J Biol Chem, 1997 Dec 19. PMID 9405447
  5. SAV1 promotes Hippo kinase activation through antagonizing the PP2A phosphatase STRIPAK. Bae SJ, et al. Elife, 2017 Oct 24. PMID 29063833, Free PMC Article

See all (50) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Here, the authors discover SAV1-mediated inhibition of the PP2A complex STRIPAK(SLMAP) as a key mechanism of MST1/2 activation.
    Title: SAV1 promotes Hippo kinase activation through antagonizing the PP2A phosphatase STRIPAK.
  2. The data suggests the potential role of SLMAP single nucleotide polymorphism as a risk factor for the susceptibility of diabetic retinopathy among type 2 diabetes patients in the Qatari population.
    Title: Role of SLMAP genetic variants in susceptibility of diabetes and diabetic retinopathy in Qatari population.
  3. Mutations in SLMAP may cause Brugada syndrome via modulating the intracellular trafficking of hNav1.5 channel.
    Title: A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42206, KIAA1601, MGC138760, MGC138761

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in muscle contraction IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of membrane depolarization during cardiac muscle cell action potential IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of membrane depolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of sodium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of voltage-gated sodium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of voltage-gated sodium channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in microtubule organizing center IEA
Inferred from Electronic Annotation
more info
  
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
  
located_in smooth endoplasmic reticulum TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
sarcolemmal membrane-associated protein

NCBI Reference Sequences (RefSeq)

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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
    5001..177758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304420.3 → NP_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
    Related
    ENSP00000499241.1, ENST00000659705.1
    Conserved Domains (4) summary
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:156 → 795
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:601 → 679
    DUF342; Protein of unknown function (DUF342)

  2. NM_001304421.2 → NP_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/Swiss-Prot
    Q14BN4
    Related
    ENSP00000412945.2, ENST00000449503.6
    Conserved Domains (3) summary
    COG1196
    Location:161 → 757
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00060
    Location:14 → 108
    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:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  3. NM_001304422.3 → NP_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
    Consensus CDS
    CCDS77759.1
    UniProtKB/TrEMBL
    B7Z964
    Conserved Domains (1) summary
    cl19219
    Location:135 → 213
    DUF342; Protein of unknown function (DUF342)

  4. NM_001304423.3 → NP_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
    cl19219
    Location:69 → 147
    DUF342; Protein of unknown function (DUF342)

  5. NM_001311178.2 → NP_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
    UniProtKB/Swiss-Prot
    Q14BN4
    Related
    ENSP00000418218.2, ENST00000494088.6
    Conserved Domains (1) summary
    cl19219
    Location:135 → 213
    DUF342; Protein of unknown function (DUF342)

  6. NM_001311179.2 → NP_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
    Related
    ENSP00000391886.1, ENST00000438794.5
    Conserved Domains (1) summary
    cl19219
    Location:94 → 172
    DUF342; Protein of unknown function (DUF342)

  7. NM_001377538.1 → NP_001364467.1  sarcolemmal membrane-associated protein isoform h

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    cd00060
    Location:14 → 108
    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:163 → 819
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd21911
    Location:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  8. NM_001377539.1 → NP_001364468.1  sarcolemmal membrane-associated protein isoform i

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    cd00060
    Location:14 → 108
    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:163 → 812
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd21911
    Location:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  9. NM_001377540.1 → NP_001364469.1  sarcolemmal membrane-associated protein isoform j

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Related
    ENSP00000499458.1, ENST00000671191.1
    Conserved Domains (3) summary
    cd00060
    Location:14 → 108
    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:163 → 812
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd21911
    Location:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  10. NM_001377541.1 → NP_001364470.1  sarcolemmal membrane-associated protein isoform k

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    cd00060
    Location:14 → 108
    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:156 → 795
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd21911
    Location:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  11. NM_001377542.1 → NP_001364471.1  sarcolemmal membrane-associated protein isoform q

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    cd00060
    Location:14 → 108
    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:156 → 795
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd21911
    Location:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  12. NM_001377545.1 → NP_001364474.1  sarcolemmal membrane-associated protein isoform l

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    cd00060
    Location:14 → 108
    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:163 → 791
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd21911
    Location:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  13. NM_001377549.1 → NP_001364478.1  sarcolemmal membrane-associated protein isoform n

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    COG1196
    Location:161 → 778
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00060
    Location:14 → 108
    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:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  14. NM_001377551.1 → NP_001364480.1  sarcolemmal membrane-associated protein isoform aa

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    cd00060
    Location:14 → 108
    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:156 → 774
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd21911
    Location:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  15. NM_001377552.1 → NP_001364481.1  sarcolemmal membrane-associated protein isoform o

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    cd00060
    Location:14 → 108
    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:156 → 774
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd21911
    Location:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  16. NM_001377555.1 → NP_001364484.1  sarcolemmal membrane-associated protein isoform p

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    COG1196
    Location:161 → 771
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00060
    Location:14 → 108
    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:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  17. NM_001377557.1 → NP_001364486.1  sarcolemmal membrane-associated protein isoform c

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    COG1196
    Location:161 → 757
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00060
    Location:14 → 108
    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:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  18. NM_001377559.1 → NP_001364488.1  sarcolemmal membrane-associated protein isoform r

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    COG1196
    Location:161 → 757
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00060
    Location:14 → 108
    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:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  19. NM_001377562.1 → NP_001364491.1  sarcolemmal membrane-associated protein isoform bb

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    cd00060
    Location:14 → 108
    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:156 → 754
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd21911
    Location:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  20. NM_001377921.1 → NP_001364850.1  sarcolemmal membrane-associated protein isoform s

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    cd00060
    Location:14 → 108
    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:156 → 754
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd21911
    Location:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  21. NM_001377922.1 → NP_001364851.1  sarcolemmal membrane-associated protein isoform t

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    COG1196
    Location:161 → 750
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00060
    Location:14 → 108
    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:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  22. NM_001377923.1 → NP_001364852.1  sarcolemmal membrane-associated protein isoform u

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    COG1196
    Location:161 → 737
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00060
    Location:14 → 108
    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:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  23. NM_001377924.1 → NP_001364853.1  sarcolemmal membrane-associated protein isoform v

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Conserved Domains (3) summary
    COG0419
    Location:167 → 734
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00060
    Location:14 → 108
    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:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  24. NM_001377925.1 → NP_001364854.1  sarcolemmal membrane-associated protein isoform w

    Status: REVIEWED

    Source sequence(s)
    AC099777, AC114480
    Related
    ENSP00000398661.2, ENST00000428312.6
    Conserved Domains (3) summary
    COG0419
    Location:167 → 717
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00060
    Location:14 → 108
    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:163 → 225
    CC1_SLMAP; first coiled-coil (CC1) domain found in Sarcolemmal membrane-associated protein

  25. NM_001377926.1 → NP_001364855.1  sarcolemmal membrane-associated protein isoform x

    Status: REVIEWED

    Source sequence(s)
    AC099777
    Conserved Domains (1) summary
    COG1196
    Location:20 → 288
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  26. NM_001377927.1 → NP_001364856.1  sarcolemmal membrane-associated protein isoform y

    Status: REVIEWED

    Source sequence(s)
    AC099777
    Conserved Domains (1) summary
    COG1196
    Location:20 → 288
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  27. NM_001377928.1 → NP_001364857.1  sarcolemmal membrane-associated protein isoform z

    Status: REVIEWED

    Source sequence(s)
    AC099777
    Conserved Domains (1) summary
    COG1196
    Location:3 → 190
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  28. NM_007159.5 → NP_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/Swiss-Prot
    Q14BN4
    Related
    ENSP00000295951.3, ENST00000295951.7
    Conserved Domains (5) summary
    COG1196
    Location:161 → 778
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:584 → 662
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:477 → 572
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    57756229..57930013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265458.4 → XP_005265515.1  sarcolemmal membrane-associated protein isoform X3

    Conserved Domains (5) summary
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:165 → 814
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:620 → 698
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:513 → 608
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  2. XM_017007148.2 → XP_016862637.1  sarcolemmal membrane-associated protein isoform X9

  3. XM_017007151.2 → XP_016862640.1  sarcolemmal membrane-associated protein isoform X16

  4. XM_017007158.2 → XP_016862647.1  sarcolemmal membrane-associated protein isoform X28

  5. XM_005265456.4 → XP_005265513.1  sarcolemmal membrane-associated protein isoform X1

    Conserved Domains (5) summary
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:165 → 814
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:620 → 698
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:513 → 608
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  6. XM_017007156.2 → XP_016862645.1  sarcolemmal membrane-associated protein isoform X24

  7. XM_005265468.4 → XP_005265525.1  sarcolemmal membrane-associated protein isoform X21

    Conserved Domains (4) summary
    COG1196
    Location:163 → 773
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:579 → 657
    DUF342; Protein of unknown function (DUF342)

  8. XM_005265462.4 → XP_005265519.1  sarcolemmal membrane-associated protein isoform X10

    Conserved Domains (4) summary
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:165 → 793
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:599 → 677
    DUF342; Protein of unknown function (DUF342)

  9. XM_005265459.4 → XP_005265516.1  sarcolemmal membrane-associated protein isoform X5

    Conserved Domains (4) summary
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:158 → 797
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:603 → 681
    DUF342; Protein of unknown function (DUF342)

  10. XM_017007162.2 → XP_016862651.1  sarcolemmal membrane-associated protein isoform X32

  11. XM_017007159.2 → XP_016862648.1  sarcolemmal membrane-associated protein isoform X29

  12. XM_005265467.4 → XP_005265524.1  sarcolemmal membrane-associated protein isoform X17

    Conserved Domains (4) summary
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:158 → 776
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:582 → 660
    DUF342; Protein of unknown function (DUF342)

  13. XM_005265472.4 → XP_005265529.1  sarcolemmal membrane-associated protein isoform X36

    Conserved Domains (4) summary
    COG0419
    Location:169 → 736
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:541 → 619
    DUF342; Protein of unknown function (DUF342)

  14. XM_005265460.4 → XP_005265517.1  sarcolemmal membrane-associated protein isoform X6

    Conserved Domains (5) summary
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:158 → 797
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:603 → 681
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:496 → 591
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  15. XM_011534103.2 → XP_011532405.1  sarcolemmal membrane-associated protein isoform X18

    Conserved Domains (5) summary
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:165 → 776
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:582 → 660
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:475 → 570
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  16. XM_005265465.4 → XP_005265522.1  sarcolemmal membrane-associated protein isoform X14

    Conserved Domains (5) summary
    COG1196
    Location:163 → 780
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:586 → 664
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:479 → 574
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  17. XM_011534104.2 → XP_011532406.1  sarcolemmal membrane-associated protein isoform X34

    Conserved Domains (4) summary
    COG1196
    Location:163 → 739
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:545 → 623
    DUF342; Protein of unknown function (DUF342)

  18. XM_005265470.4 → XP_005265527.1  sarcolemmal membrane-associated protein isoform X26

    Conserved Domains (4) summary
    COG1196
    Location:163 → 759
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:565 → 643
    DUF342; Protein of unknown function (DUF342)

  19. XM_017007167.2 → XP_016862656.1  sarcolemmal membrane-associated protein isoform X41

  20. XM_011534105.2 → XP_011532407.1  sarcolemmal membrane-associated protein isoform X40

    Conserved Domains (4) summary
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:295 → 616
    Filament; Intermediate filament protein
    cl19219
    Location:524 → 602
    DUF342; Protein of unknown function (DUF342)

  21. XM_017007155.2 → XP_016862644.1  sarcolemmal membrane-associated protein isoform X23

  22. XM_017007161.2 → XP_016862650.1  sarcolemmal membrane-associated protein isoform X31

  23. XM_017007147.2 → XP_016862636.1  sarcolemmal membrane-associated protein isoform X8

  24. XM_017007166.2 → XP_016862655.1  sarcolemmal membrane-associated protein isoform X39

  25. XM_006713326.3 → XP_006713389.1  sarcolemmal membrane-associated protein isoform X35

    Conserved Domains (4) summary
    COG1196
    Location:161 → 737
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1716
    Location:46 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:14 → 108
    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:543 → 621
    DUF342; Protein of unknown function (DUF342)

  26. XM_017007169.2 → XP_016862658.1  sarcolemmal membrane-associated protein isoform X43

    Related
    ENSP00000499603.1, ENST00000667800.1

  27. XM_017007170.2 → XP_016862659.1  sarcolemmal membrane-associated protein isoform X45

    UniProtKB/Swiss-Prot
    Q14BN4
    Related
    ENSP00000389978.1, ENST00000416658.5
    Conserved Domains (1) summary
    cl19219
    Location:135 → 213
    DUF342; Protein of unknown function (DUF342)

  28. XM_011534106.2 → XP_011532408.1  sarcolemmal membrane-associated protein isoform X44

    See identical proteins and their annotated locations for XP_011532408.1

    UniProtKB/TrEMBL
    B7Z964
    Conserved Domains (1) summary
    cl19219
    Location:135 → 213
    DUF342; Protein of unknown function (DUF342)

RNA

  1. XR_001740259.2 RNA Sequence

  2. XR_001740260.2 RNA Sequence

    Related
    ENST00000664084.1

  3. XR_001740261.2 RNA Sequence

  4. XR_001740263.2 RNA Sequence

  5. XR_001740262.2 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14BN4.1 GenPept UniProtKB/Swiss-Prot:Q14BN4

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