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TBC1D23 TBC1 domain family member 23 [ Homo sapiens (human) ]

Gene ID: 55773, updated on 6-Sep-2022

Summary

Official Symbol
TBC1D23provided by HGNC
Official Full Name
TBC1 domain family member 23provided by HGNC
Primary source
HGNC:HGNC:25622
See related
Ensembl:ENSG00000036054 MIM:617687; AllianceGenome:HGNC:25622
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
PCH11; NS4ATP1
Summary
Involved in brain development; retrograde transport, endosome to Golgi; and vesicle tethering to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. Colocalizes with WASH complex. Implicated in pontocerebellar hypoplasia. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 11.3), placenta (RPKM 11.0) and 25 other tissues See more
Orthologs
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Genomic context

See TBC1D23 in Genome Data Viewer
Location:
3q12.1-q12.2
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (100260992..100325238)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (102966332..103030580)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (99979836..100044082)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene dual specificity phosphatase 12 pseudogene 1 Neighboring gene vesicle transport through interaction with t-SNAREs 1B pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 4023 Neighboring gene nitrilase family member 2 Neighboring gene translocase of outer mitochondrial membrane 70

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

Associated conditions

Description Tests
Pontocerebellar hypoplasia, type 11
MedGen: C4540164 OMIM: 617695 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11046, DKFZp667G062

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic brain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in embryonic brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle tethering to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in vesicle tethering to Golgi IDA
Inferred from Direct Assay
more info
PubMed 
involved_in vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
TBC1 domain family member 23
Names
HCV non-structural protein 4A-transactivated protein 1
HCV nonstructural protein 4A-transactivated protein 1

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_001199198.3NP_001186127.1  TBC1 domain family member 23 isoform 1

    See identical proteins and their annotated locations for NP_001186127.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC020955, DA801258
    Consensus CDS
    CCDS56265.1
    UniProtKB/Swiss-Prot
    Q9NUY8, Q9NV75
    Related
    ENSP00000377700.4, ENST00000394144.9
    Conserved Domains (2) summary
    pfam00566
    Location:48246
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl00125
    Location:328439
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
  2. NM_018309.5NP_060779.2  TBC1 domain family member 23 isoform 2

    See identical proteins and their annotated locations for NP_060779.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK001750, BC020955, BX648032, DA801258
    Consensus CDS
    CCDS2936.1
    UniProtKB/Swiss-Prot
    Q9NUY8
    Related
    ENSP00000340693.5, ENST00000344949.9
    Conserved Domains (2) summary
    pfam00566
    Location:48246
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl00125
    Location:328439
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    100260992..100325238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006841.3XP_016862330.1  TBC1 domain family member 23 isoform X2

  2. XM_047448562.1XP_047304518.1  TBC1 domain family member 23 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    102966332..103030580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)