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TBCCD1 TBCC domain containing 1 [ Homo sapiens (human) ]

Gene ID: 55171, updated on 5-Mar-2024

Summary

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Official Symbol
TBCCD1provided by HGNC
Official Full Name
TBCC domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25546
See related
Ensembl:ENSG00000113838 MIM:619848; AllianceGenome:HGNC:25546
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
Involved in several processes, including maintenance of Golgi location; maintenance of centrosome location; and regulation of cell shape. Located in spindle pole centrosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 10.9), thyroid (RPKM 4.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3q27.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186546067..186570543, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189361789..189386265, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186263856..186288332, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186194185-186194957 Neighboring gene long intergenic non-protein coding RNA 2051 Neighboring gene Sharpr-MPRA regulatory region 13089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20942 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:186270000-186271199 Neighboring gene crystallin gamma S Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14987 Neighboring gene DnaJ heat shock protein family (Hsp40) member B11 Neighboring gene Sharpr-MPRA regulatory region 9080 Neighboring gene PET100 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. TBCCD1, a new centrosomal protein, is required for centrosome and Golgi apparatus positioning. Gonçalves J, et al. EMBO Rep, 2010 Mar. PMID 20168327, Free PMC Article
  2. Systematic Analysis of Human Protein Phosphatase Interactions and Dynamics. Yadav L, et al. Cell Syst, 2017 Apr 26. PMID 28330616
  3. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  4. A Human Tyrosine Phosphatase Interactome Mapped by Proteomic Profiling. Kumar P, et al. J Proteome Res, 2017 Aug 4. PMID 28675297, Free PMC Article
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10560

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 maintenance of Golgi location IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in maintenance of Golgi location IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in maintenance of centrosome location IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in maintenance of centrosome location IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in spindle pole centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in spindle pole centrosome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
TBCC domain-containing 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_001134415.1 → NP_001127887.1  TBCC domain-containing protein 1 isoform a

    See identical proteins and their annotated locations for NP_001127887.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC068631, BC025748, CA428099, DB033833
    Consensus CDS
    CCDS3276.1
    UniProtKB/Swiss-Prot
    B3KW69, D3DNU6, G5E9J4, Q9NVR7
    Related
    ENSP00000411253.1, ENST00000424280.5
    Conserved Domains (1) summary
    pfam07986
    Location:329 → 444
    TBCC; Tubulin binding cofactor C

  2. NM_001286749.2 → NP_001273678.1  TBCC domain-containing protein 1 isoform b

    See identical proteins and their annotated locations for NP_001273678.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks part of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a shorter and distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC068631, AK124362, BC025748, CA428099
    Consensus CDS
    CCDS75061.1
    UniProtKB/Swiss-Prot
    Q9NVR7
    Related
    ENSP00000397091.1, ENST00000446782.5
    Conserved Domains (1) summary
    pfam07986
    Location:233 → 348
    TBCC; Tubulin binding cofactor C

  3. NM_018138.5 → NP_060608.1  TBCC domain-containing protein 1 isoform a

    See identical proteins and their annotated locations for NP_060608.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC068631, AK124362, BC025748, CA428099
    Consensus CDS
    CCDS3276.1
    UniProtKB/Swiss-Prot
    B3KW69, D3DNU6, G5E9J4, Q9NVR7
    Related
    ENSP00000341652.5, ENST00000338733.10
    Conserved Domains (1) summary
    pfam07986
    Location:329 → 444
    TBCC; Tubulin binding cofactor C

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    186546067..186570543 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    189361789..189386265 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NVR7.1 GenPept UniProtKB/Swiss-Prot:Q9NVR7

Gene LinkOut

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

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