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    TBC1D13 TBC1 domain family member 13 [ Homo sapiens (human) ]

    Gene ID: 54662, updated on 28-Oct-2024

    Summary

    Official Symbol
    TBC1D13provided by HGNC
    Official Full Name
    TBC1 domain family member 13provided by HGNC
    Primary source
    HGNC:HGNC:25571
    See related
    Ensembl:ENSG00000107021 MIM:616218; AllianceGenome:HGNC:25571
    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
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in intracellular protein transport. Predicted to be located in cytosol and membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 17.4), ovary (RPKM 10.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TBC1D13 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128787253..128810430)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140992029..141015220)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131549532..131572709)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene zyg-11 related cell cycle regulator Neighboring gene uncharacterized LOC124902282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131534571-131535297 Neighboring gene CRISPRi-validated cis-regulatory element chr9.3033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20352 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131574071-131574244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131581177-131581742 Neighboring gene KYAT1-SPOUT1 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131590537-131591467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29093 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131592801-131593024 Neighboring gene SPOUT domain containing methyltransferase 1 Neighboring gene endonuclease G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131600611-131601111 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131607420-131607646 Neighboring gene kynurenine aminotransferase 1 Neighboring gene Sharpr-MPRA regulatory region 9337 Neighboring gene Sharpr-MPRA regulatory region 7409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20355 Neighboring gene leucine rich repeat containing 8 VRAC subunit A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10743

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    TBC1 domain family member 13
    Names
    epididymis secretory sperm binding 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.

    mRNA and Protein(s)

    1. NM_001286772.2NP_001273701.1  TBC1 domain family member 13 isoform b

      See identical proteins and their annotated locations for NP_001273701.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons that result in the loss of an in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AL441992
      Consensus CDS
      CCDS69677.1
      Related
      ENSP00000223865.8, ENST00000223865.8
      Conserved Domains (1) summary
      smart00164
      Location:32242
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    2. NM_018201.5NP_060671.3  TBC1 domain family member 13 isoform a

      See identical proteins and their annotated locations for NP_060671.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL441992
      Consensus CDS
      CCDS6911.1
      UniProtKB/Swiss-Prot
      A7E2E7, B3KW04, B9EGJ8, Q5T270, Q5T271, Q9NVG8
      UniProtKB/TrEMBL
      A0A024R8C8, Q59F95
      Related
      ENSP00000361731.5, ENST00000372648.10
      Conserved Domains (1) summary
      smart00164
      Location:32367
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      128787253..128810430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423479.1XP_047279435.1  TBC1 domain family member 13 isoform X1

    2. XM_005252060.3XP_005252117.1  TBC1 domain family member 13 isoform X2

      See identical proteins and their annotated locations for XP_005252117.1

      UniProtKB/TrEMBL
      B4DHM6, Q59F95
      Conserved Domains (1) summary
      smart00164
      Location:28291
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140992029..141015220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363130.1XP_054219105.1  TBC1 domain family member 13 isoform X1

    2. XM_054363131.1XP_054219106.1  TBC1 domain family member 13 isoform X2

      UniProtKB/TrEMBL
      B4DHM6