U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TBC1D3B TBC1 domain family member 3B [ Homo sapiens (human) ]

Gene ID: 414059, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
TBC1D3Bprovided by HGNC
Official Full Name
TBC1 domain family member 3Bprovided by HGNC
Primary source
HGNC:HGNC:27011
See related
Ensembl:ENSG00000274808 MIM:610144; AllianceGenome:HGNC:27011
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
PRC17; TBC1D3I; TBC1D3L
Summary
This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009]
Expression
Broad expression in testis (RPKM 19.5), skin (RPKM 8.9) and 23 other tissues See more
Orthologs
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
17q12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (36165683..36176636, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37113575..37124508, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34493063..34503996, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927369 Neighboring gene golgi membrane protein 1 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:34450775-34451357 Neighboring gene uncharacterized LOC107985055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34501670-34502170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34503901-34504401 Neighboring gene uncharacterized LOC128966684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:34598171-34598682 Neighboring gene uncharacterized LOC128966706 Neighboring gene C-C motif chemokine ligand 3 like 3

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. Hodzic D, et al. Genomics, 2006 Dec. PMID 16863688
  2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, Free PMC Article
  3. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
  4. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ78399

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
TBC1 domain family member 3B
Names
Rab GTPase-activating protein PRC17 duplicate
TBC1 domain family member 3B/I
TBC1 domain family, member 3-like
TBC1 domain family, member 3I
prostate cancer gene 17 duplicate

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_001001417.7 → NP_001001417.6  TBC1 domain family member 3B

    See identical proteins and their annotated locations for NP_001001417.6

    Status: REVIEWED

    Source sequence(s)
    AC243829
    Consensus CDS
    CCDS42300.1
    UniProtKB/Swiss-Prot
    A6NDS4, A8K892
    UniProtKB/TrEMBL
    A0A0G2JLM6
    Related
    ENSP00000478473.1, ENST00000611257.5
    Conserved Domains (1) summary
    smart00164
    Location:99 → 312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

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
    36165683..36176636 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257980.5 → XP_005258037.2  TBC1 domain family member 3B isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLM6
    Conserved Domains (1) summary
    smart00164
    Location:160 → 373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    400591..411524 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329301.1 → XP_054185276.1  TBC1 domain family member 3B isoform X2

  2. XM_054329300.1 → XP_054185275.1  TBC1 domain family member 3B isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187661.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    119786..130739 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330084.1 → XP_054186059.1  TBC1 domain family member 3B isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    37113575..37124508 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316148.1 → XP_054172123.1  TBC1 domain family member 3B isoform X4

  2. XM_054316147.1 → XP_054172122.1  TBC1 domain family member 3B isoform X1

  3. XM_054316149.1 → XP_054172124.1  TBC1 domain family member 3B isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NDS4.2 GenPept UniProtKB/Swiss-Prot:A6NDS4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous