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    LRSAM1 leucine rich repeat and sterile alpha motif containing 1 [ Homo sapiens (human) ]

    Gene ID: 90678, updated on 5-Sep-2021

    Summary

    Official Symbol
    LRSAM1provided by HGNC
    Official Full Name
    leucine rich repeat and sterile alpha motif containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25135
    See related
    Ensembl:ENSG00000148356 MIM:610933
    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
    TAL; CMT2P; RIFLE
    Summary
    This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
    Expression
    Ubiquitous expression in skin (RPKM 9.6), bone marrow (RPKM 7.7) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See LRSAM1 in Genome Data Viewer
    Location:
    9q33.3-q34.11
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (127451486..127503501)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130213765..130265780)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 79 Neighboring gene small nucleolar RNA, H/ACA box 65 Neighboring gene ribosomal protein L12 Neighboring gene niban apoptosis regulator 2 Neighboring gene uncharacterized LOC105376281 Neighboring gene Sharpr-MPRA regulatory region 14561

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag TAL, a Tsg101-associated ligase, binds and ubiquitinates Tsg101; TAL-mediated binding and ubiquitination of Tsg101 cooperatively regulate release of HIV-1 Gag PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ31641

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase LRSAM1
    Names
    RING finger leucine repeat rich
    RING-type E3 ubiquitin transferase LRSAM1
    Tsg101-associated ligase
    NP_001005373.1
    NP_001005374.1
    NP_001177652.1
    NP_001371071.1
    NP_001371072.1
    NP_001371073.1
    NP_612370.3

    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_032008.1 RefSeqGene

      Range
      5001..57016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_373

    mRNA and Protein(s)

    1. NM_001005373.4NP_001005373.1  E3 ubiquitin-protein ligase LRSAM1 isoform 1

      See identical proteins and their annotated locations for NP_001005373.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AL445222
      Consensus CDS
      CCDS6873.1
      UniProtKB/Swiss-Prot
      Q6UWE0
      UniProtKB/TrEMBL
      A0A024R870
      Related
      ENSP00000300417.6, ENST00000300417.11
      Conserved Domains (5) summary
      cd09523
      Location:567631
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:65181
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:3354
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:674713
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:257474
      DUF5401; Family of unknown function (DUF5401)
    2. NM_001005374.4NP_001005374.1  E3 ubiquitin-protein ligase LRSAM1 isoform 1

      See identical proteins and their annotated locations for NP_001005374.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AY358830, BC009239
      Consensus CDS
      CCDS6873.1
      UniProtKB/Swiss-Prot
      Q6UWE0
      UniProtKB/TrEMBL
      A0A024R870
      Related
      ENSP00000362419.1, ENST00000373322.1
      Conserved Domains (5) summary
      cd09523
      Location:567631
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:65181
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:3354
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:674713
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:257474
      DUF5401; Family of unknown function (DUF5401)
    3. NM_001190723.3NP_001177652.1  E3 ubiquitin-protein ligase LRSAM1 isoform 2

      See identical proteins and their annotated locations for NP_001177652.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK056203, BC009239, DA165729
      Consensus CDS
      CCDS55347.1
      UniProtKB/Swiss-Prot
      Q6UWE0
      Related
      ENSP00000362421.4, ENST00000373324.8
      Conserved Domains (8) summary
      cd09523
      Location:540604
      SAM_TAL; SAM domain of TAL subfamily
      smart00454
      Location:544604
      SAM; Sterile alpha motif
      cd00116
      Location:67162
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:3354
      LRR_RI; leucine-rich repeat [structural motif]
      pfam10267
      Location:308416
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
      pfam12799
      Location:127166
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:127181
      LRR_8; Leucine rich repeat
      pfam13920
      Location:647689
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    4. NM_001384142.1NP_001371071.1  E3 ubiquitin-protein ligase LRSAM1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL445222
      Conserved Domains (5) summary
      cd09523
      Location:567631
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:65181
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:3354
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:674713
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:257474
      DUF5401; Family of unknown function (DUF5401)
    5. NM_001384143.1NP_001371072.1  E3 ubiquitin-protein ligase LRSAM1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL445222
      Related
      ENSP00000501598.1, ENST00000675572.1
      Conserved Domains (5) summary
      cd09523
      Location:536598
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:65181
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:3354
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:641680
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:257474
      DUF5401; Family of unknown function (DUF5401)
    6. NM_001384144.1NP_001371073.1  E3 ubiquitin-protein ligase LRSAM1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL445222
      Conserved Domains (4) summary
      PRK12704
      Location:27113
      PRK12704; phosphodiesterase; Provisional
      cd16515
      Location:411450
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:3211
      DUF5401; Family of unknown function (DUF5401)
      cl15755
      Location:304368
      SAM_superfamily; SAM (Sterile alpha motif )
    7. NM_138361.5NP_612370.3  E3 ubiquitin-protein ligase LRSAM1 isoform 1

      See identical proteins and their annotated locations for NP_612370.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AI364608, AK091589, BC009239, DA726792
      Consensus CDS
      CCDS6873.1
      UniProtKB/Swiss-Prot
      Q6UWE0
      UniProtKB/TrEMBL
      A0A024R870
      Related
      ENSP00000322937.4, ENST00000323301.8
      Conserved Domains (5) summary
      cd09523
      Location:567631
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:65181
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:3354
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:674713
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:257474
      DUF5401; Family of unknown function (DUF5401)

    RNA

    1. NR_168891.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL445222
      Related
      ENST00000498513.6
    2. NR_168892.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL445222
      Related
      ENST00000675641.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      127451486..127503501
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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