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Aliases for TUBGCP4 Gene

Aliases for TUBGCP4 Gene

  • Tubulin Gamma Complex Associated Protein 4 2 3 5
  • Gamma-Ring Complex Protein 76 KDa 3 4
  • GCP-4 3 4
  • GCP4 3 4
  • 76P 3 4
  • Gamma Tubulin Ring Complex Protein (76p Gene) 3
  • Tubulin, Gamma Complex Associated Protein 4 2
  • Gamma-Tubulin Complex Component 4 3
  • HGrip76 4
  • Grip76 3
  • MCCRP3 3
  • HGCP4 4
  • H76p 4

External Ids for TUBGCP4 Gene

Previous GeneCards Identifiers for TUBGCP4 Gene

  • GC15P041451
  • GC15P043663
  • GC15P020511

Summaries for TUBGCP4 Gene

Entrez Gene Summary for TUBGCP4 Gene

  • This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

GeneCards Summary for TUBGCP4 Gene

TUBGCP4 (Tubulin Gamma Complex Associated Protein 4) is a Protein Coding gene. Diseases associated with TUBGCP4 include Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 and Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is TUBGCP6.

UniProtKB/Swiss-Prot for TUBGCP4 Gene

  • Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.

Additional gene information for TUBGCP4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBGCP4 Gene

Genomics for TUBGCP4 Gene

Regulatory Elements for TUBGCP4 Gene

Enhancers for TUBGCP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H042497 1.5 Ensembl ENCODE dbSUPER 27.9 -869.6 -869614 4 HDGF PKNOX1 ARNT FEZF1 TCF12 GTF3C2 ATF7 FOS MEF2D SMARCA4 LRRC57 TUBGCP4 GANC MGA LCMT2 CDAN1 HAUS2 ENSG00000260814 LOC105370795 RPAP1
GH15H043823 1.2 ENCODE 16.7 +456.8 456808 5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 SPG11 CTDSPL2 WDR76 ENSG00000249839 ELL3 ZSCAN29 ENSG00000259563 MFAP1 LCMT2 ADAL
GH15H044028 0.7 ENCODE 26.9 +660.5 660464 2 CTCF NFIB JUN ZNF195 LCORL ZNF350 NFE2 MAFK ZNF132 MAFG TP53BP1 TUBGCP4 CTDSPL2 ENSG00000249839 WDR76 RPS3AP47 ZSCAN29 ENSG00000259563 CATSPER2 UBR1
GH15H044286 1.1 ENCODE 16.7 +919.6 919573 3 HDGF PKNOX1 SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 SP3 SP5 CTDSPL2 ENSG00000259563 SPG11 LCMT2 WDR76 ZSCAN29 TUBGCP4 ENSG00000249839 ENSG00000259659 PPIP5K1
GH15H044295 1.2 Ensembl ENCODE 9.8 +927.6 927597 2 PKNOX1 ATF1 ARNT TCF12 ZNF121 FOS ATF7 NCOA1 ZNF592 MEF2D ZSCAN29 CTDSPL2 LCMT2 TUBGCP4 ENSG00000259659 GC15M044288 GAPDHP43
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUBGCP4 on UCSC Golden Path with GeneCards custom track

Promoters for TUBGCP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075836 1879 1801 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF207 SP3 MXD4

Genomic Location for TUBGCP4 Gene

Chromosome:
15
Start:
43,369,221 bp from pter
End:
43,409,771 bp from pter
Size:
40,551 bases
Orientation:
Plus strand

Genomic View for TUBGCP4 Gene

Genes around TUBGCP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBGCP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBGCP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBGCP4 Gene

Proteins for TUBGCP4 Gene

  • Protein details for TUBGCP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGJ1-GCP4_HUMAN
    Recommended name:
    Gamma-tubulin complex component 4
    Protein Accession:
    Q9UGJ1
    Secondary Accessions:
    • B3KNK6
    • Q969X3
    • Q9NVF0

    Protein attributes for TUBGCP4 Gene

    Size:
    667 amino acids
    Molecular mass:
    76089 Da
    Quaternary structure:
    • Gamma-tubulin complex is composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6. Interacts with NINL. Interacts with ATF5; the ATF5:PCNT:polyglutamylated tubulin (PGT) tripartite unites the mother centriole and the pericentriolar material (PCM) in the centrosome (PubMed:26213385).
    SequenceCaution:
    • Sequence=BAA91802.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TUBGCP4 Gene

    Alternative splice isoforms for TUBGCP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBGCP4 Gene

Post-translational modifications for TUBGCP4 Gene

  • Ubiquitination at posLast=358358
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TUBGCP4 Gene

Domains & Families for TUBGCP4 Gene

Gene Families for TUBGCP4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TUBGCP4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TUBGCP4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UGJ1

UniProtKB/Swiss-Prot:

GCP4_HUMAN :
  • Belongs to the TUBGCP family.
Family:
  • Belongs to the TUBGCP family.
genes like me logo Genes that share domains with TUBGCP4: view

Function for TUBGCP4 Gene

Molecular function for TUBGCP4 Gene

UniProtKB/Swiss-Prot Function:
Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.

Phenotypes From GWAS Catalog for TUBGCP4 Gene

Gene Ontology (GO) - Molecular Function for TUBGCP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton NAS,IBA 10562286
GO:0005515 protein binding IPI 25416956
GO:0043015 gamma-tubulin binding IBA,IEA --
GO:0051011 contributes_to microtubule minus-end binding IBA --
genes like me logo Genes that share ontologies with TUBGCP4: view
genes like me logo Genes that share phenotypes with TUBGCP4: view

Human Phenotype Ontology for TUBGCP4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TUBGCP4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBGCP4 Gene

Localization for TUBGCP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBGCP4 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

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 TUBGCP4 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 5
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TUBGCP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0000923 equatorial microtubule organizing center IBA --
GO:0000930 gamma-tubulin complex IBA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome TAS,IDA 21399614
genes like me logo Genes that share ontologies with TUBGCP4: view

Pathways & Interactions for TUBGCP4 Gene

genes like me logo Genes that share pathways with TUBGCP4: view

Pathways by source for TUBGCP4 Gene

Gene Ontology (GO) - Biological Process for TUBGCP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly NAS 10562286
GO:0007020 microtubule nucleation IEA,NAS 10562286
GO:0031122 cytoplasmic microtubule organization IBA --
GO:0051298 centrosome duplication IBA --
GO:0051321 meiotic cell cycle IBA --
genes like me logo Genes that share ontologies with TUBGCP4: view

No data available for SIGNOR curated interactions for TUBGCP4 Gene

Drugs & Compounds for TUBGCP4 Gene

No Compound Related Data Available

Transcripts for TUBGCP4 Gene

Unigene Clusters for TUBGCP4 Gene

Tubulin, gamma complex associated protein 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TUBGCP4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TUBGCP4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5:
SP6:
SP7:

ExUns: 19 ^ 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for TUBGCP4 Gene

GeneLoc Exon Structure for
TUBGCP4
ECgene alternative splicing isoforms for
TUBGCP4

Expression for TUBGCP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TUBGCP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TUBGCP4 Gene

This gene is overexpressed in Breast (43.0) and Platelet (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TUBGCP4 Gene



Protein tissue co-expression partners for TUBGCP4 Gene

NURSA nuclear receptor signaling pathways regulating expression of TUBGCP4 Gene:

TUBGCP4

SOURCE GeneReport for Unigene cluster for TUBGCP4 Gene:

Hs.584887

mRNA Expression by UniProt/SwissProt for TUBGCP4 Gene:

Q9UGJ1-GCP4_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for TUBGCP4 Gene

  • Lung(4.1)
  • Nervous system(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBGCP4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • nose
  • outer ear
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TUBGCP4: view

Primer Products

No data available for mRNA differential expression in normal tissues for TUBGCP4 Gene

Orthologs for TUBGCP4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBGCP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUBGCP4 33 34
  • 99.9 (n)
oppossum
(Monodelphis domestica)
Mammalia TUBGCP4 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBGCP4 33 34
  • 92.79 (n)
cow
(Bos Taurus)
Mammalia TUBGCP4 33 34
  • 91.99 (n)
mouse
(Mus musculus)
Mammalia Tubgcp4 33 16 34
  • 90.7 (n)
rat
(Rattus norvegicus)
Mammalia Tubgcp4 33
  • 90.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TUBGCP4 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves TUBGCP4 33 34
  • 80.95 (n)
lizard
(Anolis carolinensis)
Reptilia TUBGCP4 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tubgcp4 33
  • 77.04 (n)
Str.3574 33
zebrafish
(Danio rerio)
Actinopterygii tubgcp4 33 34
  • 75.58 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11204 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008847 33
  • 46.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta Grip75 33 34
  • 42.73 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPC98 34
  • 10 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GCP4 33
  • 46.88 (n)
rice
(Oryza sativa)
Liliopsida Os05g0154500 33
  • 47.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for TUBGCP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TUBGCP4 Gene

ENSEMBL:
Gene Tree for TUBGCP4 (if available)
TreeFam:
Gene Tree for TUBGCP4 (if available)

Paralogs for TUBGCP4 Gene

Paralogs for TUBGCP4 Gene

genes like me logo Genes that share paralogs with TUBGCP4: view

Variants for TUBGCP4 Gene

Sequence variations from dbSNP and Humsavar for TUBGCP4 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs200092283 Pathogenic 43,403,697(+) TGCCT(G/T)AATGA intron-variant, nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime
rs794726855 Pathogenic 43,383,360(+) TCCAT(-/T)GGACT nc-transcript-variant, reference, frameshift-variant
rs794726856 Pathogenic 43,376,593(+) AGCCT(-/T)ATCGC nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs886039671 Pathogenic 43,385,793(+) TAGCG(AA/C)CTGAT nc-transcript-variant, reference, frameshift-variant
rs199517801 Uncertain significance 43,401,771(+) TACCC(A/G)AGACT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TUBGCP4 Gene

Variant ID Type Subtype PubMed ID
nsv1513 CNV insertion 18451855

Variation tolerance for TUBGCP4 Gene

Residual Variation Intolerance Score: 18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBGCP4 Gene

Human Gene Mutation Database (HGMD)
TUBGCP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBGCP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBGCP4 Gene

Disorders for TUBGCP4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TUBGCP4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly and chorioretinopathy, autosomal recessive, 3
  • microcephaly and chorioretinopathy, autosomal recessive 3
autosomal recessive chorioretinopathy-microcephaly syndrome
  • pseudotoxoplasmosis syndrome
optic nerve hypoplasia
  • optic nerve hypoplasia, bilateral
esophageal varix
  • bleeding esophageal varices
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GCP4_HUMAN
  • Microcephaly and chorioretinopathy, autosomal recessive, 3 (MCCRP3) [MIM:616335]: A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties. {ECO:0000269 PubMed:25817018}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUBGCP4

Genetic Association Database (GAD)
TUBGCP4
Human Genome Epidemiology (HuGE) Navigator
TUBGCP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBGCP4
genes like me logo Genes that share disorders with TUBGCP4: view

No data available for Genatlas for TUBGCP4 Gene

Publications for TUBGCP4 Gene

  1. Human 76p: A new member of the gamma-tubulin-associated protein family. (PMID: 10562286) Fava F … Wright M (The Journal of cell biology 1999) 2 3 4 60
  2. ATF5 Connects the Pericentriolar Materials to the Proximal End of the Mother Centriole. (PMID: 26213385) Madarampalli B … Liu DX (Cell 2015) 3 4 60
  3. Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. (PMID: 25817018) Scheidecker S … Dollfus H (American journal of human genetics 2015) 3 4 60
  4. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson JE … Couch FJ (Breast cancer research and treatment 2011) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for TUBGCP4 Gene

Sources for TUBGCP4 Gene

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