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

    Gene ID: 55171, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Broad expression in testis (RPKM 10.9), thyroid (RPKM 4.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TBCCD1 in Genome Data Viewer
    Location:
    3q27.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186546067..186570543, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189361789..189386265, complement)
    RS_2024_09 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    TBCC domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    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_001134415.1NP_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:329444
      TBCC; Tubulin binding cofactor C
    2. NM_001286749.2NP_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:233348
      TBCC; Tubulin binding cofactor C
    3. NM_018138.5NP_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:329444
      TBCC; Tubulin binding cofactor C

    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_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)