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

Gene ID: 54662, updated on 24-Nov-2020

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
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
Expression
Ubiquitous expression in kidney (RPKM 17.4), ovary (RPKM 10.6) and 25 other tissues See more
Orthologs

Genomic context

See TBC1D13 in Genome Data Viewer
Location:
9q34.11
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (128787253..128810432)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131549510..131572711)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506100 Neighboring gene zyg-11 related cell cycle regulator Neighboring gene CRISPRi-validated cis-regulatory element chr9.3033 Neighboring gene SPOUT domain containing methyltransferase 1 Neighboring gene endonuclease G Neighboring gene kynurenine aminotransferase 1 Neighboring gene leucine rich repeat containing 8 VRAC subunit A

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

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10743

Gene Ontology Provided by GOA

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

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
    UniProtKB/Swiss-Prot
    Q9NVG8
    UniProtKB/TrEMBL
    A0A024R8B1, B3KNG3
    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
    Q9NVG8
    UniProtKB/TrEMBL
    A0A024R8C8, B3KNG3
    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: Homo sapiens Updated Annotation Release 109.20201120

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
    128787253..128810432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252060.2XP_005252117.1  TBC1 domain family member 13 isoform X1

    See identical proteins and their annotated locations for XP_005252117.1

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