Aliases for TBCCD1 Gene

Aliases for TBCCD1 Gene

  • TBCC Domain Containing 1 2 3 5
  • TBCC Domain-Containing Protein 1 3 4

External Ids for TBCCD1 Gene

Previous GeneCards Identifiers for TBCCD1 Gene

  • GC03M187739
  • GC03M186263
  • GC03M183672

Summaries for TBCCD1 Gene

GeneCards Summary for TBCCD1 Gene

TBCCD1 (TBCC Domain Containing 1) is a Protein Coding gene. Diseases associated with TBCCD1 include Retinitis Pigmentosa 2 and Retinitis Pigmentosa. Gene Ontology (GO) annotations related to this gene include actin binding.

UniProtKB/Swiss-Prot Summary for TBCCD1 Gene

  • Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration.

Additional gene information for TBCCD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBCCD1 Gene

Genomics for TBCCD1 Gene

GeneHancer (GH) Regulatory Elements for TBCCD1 Gene

Promoters and enhancers for TBCCD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBCCD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBCCD1

Top Transcription factor binding sites by QIAGEN in the TBCCD1 gene promoter:
  • AhR
  • Arnt
  • C/EBPalpha
  • CHOP-10
  • Evi-1
  • S8

Genomic Locations for TBCCD1 Gene

Genomic Locations for TBCCD1 Gene
chr3:186,546,067-186,570,543
(GRCh38/hg38)
Size:
24,477 bases
Orientation:
Minus strand
chr3:186,263,856-186,288,332
(GRCh37/hg19)
Size:
24,477 bases
Orientation:
Minus strand

Genomic View for TBCCD1 Gene

Genes around TBCCD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBCCD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBCCD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBCCD1 Gene

Proteins for TBCCD1 Gene

  • Protein details for TBCCD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVR7-TBCC1_HUMAN
    Recommended name:
    TBCC domain-containing protein 1
    Protein Accession:
    Q9NVR7
    Secondary Accessions:
    • B3KW69
    • D3DNU6
    • G5E9J4

    Protein attributes for TBCCD1 Gene

    Size:
    557 amino acids
    Molecular mass:
    63530 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TBCCD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBCCD1 Gene

Post-translational modifications for TBCCD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBCCD1 Gene

No data available for DME Specific Peptides for TBCCD1 Gene

Domains & Families for TBCCD1 Gene

Gene Families for TBCCD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBCCD1 Gene

Blocks:
  • Tubulin binding cofactor C
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TBCCD1 Gene

GenScript: Design optimal peptide antigens:
  • TBCC domain-containing protein 1 (TBCC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NVR7

UniProtKB/Swiss-Prot:

TBCC1_HUMAN :
  • Belongs to the TBCC family.
Family:
  • Belongs to the TBCC family.
genes like me logo Genes that share domains with TBCCD1: view

Function for TBCCD1 Gene

Molecular function for TBCCD1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration.

Phenotypes From GWAS Catalog for TBCCD1 Gene

genes like me logo Genes that share phenotypes with TBCCD1: view

Animal Models for TBCCD1 Gene

MGI Knock Outs for TBCCD1:
  • Tbccd1 Tbccd1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for TBCCD1 Gene

miRTarBase miRNAs that target TBCCD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TBCCD1 Gene

Localization for TBCCD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBCCD1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Note=Localizes at the spindle midzone, midbody and basal bodies of primary and motile cilia.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBCCD1 gene
Compartment Confidence
cytoskeleton 5
nucleus 2
golgi apparatus 2
mitochondrion 1
cytosol 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for TBCCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0031616 spindle pole centrosome IDA 20168327
genes like me logo Genes that share ontologies with TBCCD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBCCD1 Gene

Pathways & Interactions for TBCCD1 Gene

PathCards logo

SuperPathways for TBCCD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBCCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0008360 regulation of cell shape IMP 20168327
GO:0030334 regulation of cell migration IMP 20168327
GO:0051661 maintenance of centrosome location IMP 20168327
GO:0051684 maintenance of Golgi location IMP 20168327
genes like me logo Genes that share ontologies with TBCCD1: view

No data available for Pathways by source and SIGNOR curated interactions for TBCCD1 Gene

Drugs & Compounds for TBCCD1 Gene

No Compound Related Data Available

Transcripts for TBCCD1 Gene

mRNA/cDNA for TBCCD1 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBCCD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6: - -
SP7:

Relevant External Links for TBCCD1 Gene

GeneLoc Exon Structure for
TBCCD1

Expression for TBCCD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBCCD1 Gene

Protein differential expression in normal tissues from HIPED for TBCCD1 Gene

This gene is overexpressed in CD8 Tcells (36.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TBCCD1 Gene



Protein tissue co-expression partners for TBCCD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBCCD1

SOURCE GeneReport for Unigene cluster for TBCCD1 Gene:

Hs.518469

Evidence on tissue expression from TISSUES for TBCCD1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TBCCD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBCCD1 Gene

Orthologs for TBCCD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TBCCD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBCCD1 31 30
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBCCD1 31 30
  • 92.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TBCCD1 31 30
  • 90.42 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBCCD1 31
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbccd1 30
  • 84.11 (n)
mouse
(Mus musculus)
Mammalia Tbccd1 17 31 30
  • 84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBCCD1 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBCCD1 31 30
  • 68.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBCCD1 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbccd1 30
  • 63.86 (n)
zebrafish
(Danio rerio)
Actinopterygii tbccd1 31 30
  • 58.42 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for TBCCD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TBCCD1 Gene

ENSEMBL:
Gene Tree for TBCCD1 (if available)
TreeFam:
Gene Tree for TBCCD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBCCD1: view image

Paralogs for TBCCD1 Gene

Pseudogenes.org Pseudogenes for TBCCD1 Gene

genes like me logo Genes that share paralogs with TBCCD1: view

No data available for Paralogs for TBCCD1 Gene

Variants for TBCCD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBCCD1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
781974 Benign: not provided 186,554,367(-) C/T SYNONYMOUS_VARIANT
rs7619912 - p.Lys149Arg

Additional dbSNP identifiers (rs#s) for TBCCD1 Gene

Variation tolerance for TBCCD1 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.75; 57.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBCCD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBCCD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TBCCD1 Gene

Disorders for TBCCD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TBCCD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 2
  • rp2
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBCCD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TBCCD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBCCD1 Gene

Publications for TBCCD1 Gene

  1. TBCCD1, a new centrosomal protein, is required for centrosome and Golgi apparatus positioning. (PMID: 20168327) Gonçalves J … Soares H (EMBO reports 2010) 2 3 4 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Systematic Analysis of Human Protein Phosphatase Interactions and Dynamics. (PMID: 28330616) Yadav L … Varjosalo M (Cell systems 2017) 3 54

Products for TBCCD1 Gene

Sources for TBCCD1 Gene