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

Gene ID: 414059, updated on 18-Sep-2024

Summary

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
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Genomic context

See TBC1D3B in Genome Data Viewer
Location:
17q12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (36165683..36176636, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37113575..37124508, complement)
RS_2024_09 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

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

  • FLJ78399

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator 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

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)

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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_001001417.7NP_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:99312
    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_000017.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A0G2JLM6
    Conserved Domains (1) summary
    smart00164
    Location:160373
    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_054329301.1XP_054185276.1  TBC1 domain family member 3B isoform X2

    UniProtKB/TrEMBL
    A0A0G2JMF6
  2. XM_054329300.1XP_054185275.1  TBC1 domain family member 3B isoform X1

    UniProtKB/TrEMBL
    A0A0G2JMF6

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_054330084.1XP_054186059.1  TBC1 domain family member 3B isoform X3

    UniProtKB/TrEMBL
    B4DXP2

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_054316148.1XP_054172123.1  TBC1 domain family member 3B isoform X4

    UniProtKB/TrEMBL
    A0A0G2JMF6
  2. XM_054316147.1XP_054172122.1  TBC1 domain family member 3B isoform X1

    UniProtKB/TrEMBL
    A0A0G2JMF6
  3. XM_054316149.1XP_054172124.1  TBC1 domain family member 3B isoform X5