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    TOM1L1 target of myb1 like 1 membrane trafficking protein [ Homo sapiens (human) ]

    Gene ID: 10040, updated on 3-Apr-2024

    Summary

    Official Symbol
    TOM1L1provided by HGNC
    Official Full Name
    target of myb1 like 1 membrane trafficking proteinprovided by HGNC
    Primary source
    HGNC:HGNC:11983
    See related
    Ensembl:ENSG00000141198 MIM:604701; AllianceGenome:HGNC:11983
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SRCASM
    Summary
    Enables clathrin binding activity and protein kinase binding activity. Involved in negative regulation of mitotic nuclear division; positive regulation of protein phosphorylation; and signal transduction. Located in cytosol and endosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in duodenum (RPKM 37.8), thyroid (RPKM 25.7) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    17q22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (54900852..54961956)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (55774353..55836874)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (52978213..53039317)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 14 Neighboring gene MPRA-validated peak2899 silencer Neighboring gene uncharacterized LOC124904033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12406 Neighboring gene uncharacterized LOC124904032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12407 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:53045085-53046034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:53046035-53046983 Neighboring gene cytochrome c oxidase copper chaperone COX11 Neighboring gene syntaxin binding protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12412 Neighboring gene MPRA-validated peak2901 silencer Neighboring gene uncharacterized LOC107985002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8731 Neighboring gene VISTA enhancer hs2291 Neighboring gene Sharpr-MPRA regulatory regions 2486 and 1497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:53398039-53398539 Neighboring gene HLF transcription factor, PAR bZIP family member

    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

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag The PTAP sequence (179-182) in the GAT domain and the PSAP sequence (310-313) in the C-terminal region of Tom1L1 are required for its interaction with the UEV domain (1-145) of Tsg101 and competes with 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables clathrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi stack IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    TOM1-like protein 1
    Names
    src-activating and signaling molecule protein
    target of Myb-like protein 1

    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.

    mRNA and Protein(s)

    1. NM_001321173.2NP_001308102.1  TOM1-like protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AB065085, BC029396, BX110664, DC362418
      Consensus CDS
      CCDS82160.1
      UniProtKB/Swiss-Prot
      O75674
      UniProtKB/TrEMBL
      Q8NI65
      Related
      ENSP00000458918.1, ENST00000575333.5
      Conserved Domains (2) summary
      cd03565
      Location:14154
      VHS_Tom1; VHS domain family, Tom1 subfamily; The VHS domain is an essential part of Tom1 (Target of myb1 - retroviral oncogene) protein. The VHS domain has a superhelical structure similar to the structure of the ARM repeats and is present at the very N-termini of ...
      cd14237
      Location:199290
      GAT_TM1L1; GAT domain found in target of Myb-like protein 1 (Tom1L1)
    2. NM_001321174.2NP_001308103.1  TOM1-like protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK315907, CB241257, DC362418
      Consensus CDS
      CCDS82161.1
      UniProtKB/TrEMBL
      B4E1M9
      Related
      ENSP00000443099.1, ENST00000536554.5
      Conserved Domains (2) summary
      cd14237
      Location:122213
      GAT_TM1L1; GAT domain found in target of Myb-like protein 1 (Tom1L1)
      cl02544
      Location:177
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
    3. NM_001321175.2NP_001308104.1  TOM1-like protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC007485, AC090824, AW044673
      Consensus CDS
      CCDS82161.1
      UniProtKB/TrEMBL
      B4E1M9
      Conserved Domains (2) summary
      cd14237
      Location:122213
      GAT_TM1L1; GAT domain found in target of Myb-like protein 1 (Tom1L1)
      cl02544
      Location:177
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
    4. NM_001321176.2NP_001308105.1  TOM1-like protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC007485, AC090824, AW044673, DC362418
      Consensus CDS
      CCDS82161.1
      UniProtKB/TrEMBL
      B4E1M9
      Conserved Domains (2) summary
      cd14237
      Location:122213
      GAT_TM1L1; GAT domain found in target of Myb-like protein 1 (Tom1L1)
      cl02544
      Location:177
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
    5. NM_005486.3NP_005477.2  TOM1-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_005477.2

      Status: VALIDATED

      Source sequence(s)
      AJ010071, AK223125, AK315039, AW139144, CN284148
      Consensus CDS
      CCDS11582.1
      UniProtKB/Swiss-Prot
      B7Z9E2, O75674, Q53G06, Q8N749
      UniProtKB/TrEMBL
      I3L4I4
      Related
      ENSP00000460823.1, ENST00000575882.6
      Conserved Domains (2) summary
      cd03565
      Location:14154
      VHS_Tom1; VHS domain family, Tom1 subfamily; The VHS domain is an essential part of Tom1 (Target of myb1 - retroviral oncogene) protein. The VHS domain has a superhelical structure similar to the structure of the ARM repeats and is present at the very N-termini of ...
      cd14237
      Location:199290
      GAT_TM1L1; GAT domain found in target of Myb-like protein 1 (Tom1L1)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      54900852..54961956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435068.1XP_047291024.1  TOM1-like protein 1 isoform X2

    2. XM_047435069.1XP_047291025.1  TOM1-like protein 1 isoform X3

    3. XM_047435067.1XP_047291023.1  TOM1-like protein 1 isoform X1

    RNA

    1. XR_243612.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      55774353..55836874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314635.1XP_054170610.1  TOM1-like protein 1 isoform X4

    2. XM_054314636.1XP_054170611.1  TOM1-like protein 1 isoform X5

    3. XM_054314637.1XP_054170612.1  TOM1-like protein 1 isoform X3

    RNA

    1. XR_008484767.1 RNA Sequence