Free for academic non-profit institutions. Other users need a Commercial license

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 Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for TUBGCP4 Gene

Promoters and enhancers for TUBGCP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J043370 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +1.9 1869 2.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B E2F8 ZSCAN29 TUBGCP4 ADAL TGM7 RN7SL487P
GH15J043368 Enhancer 0.3 Ensembl 650.7 -0.3 -320 0.2 IKZF1 TUBGCP4 ZSCAN29 PIR62879
GH15J042497 Enhancer 1.3 Ensembl ENCODE dbSUPER 27.9 -869.6 -869614 4.3 HDGF PKNOX1 ARNT FEZF1 GTF3C2 TCF12 ATF7 FOS NCOA1 MEF2D LRRC57 TUBGCP4 GANC MGA LCMT2 CDAN1 HAUS2 ENSG00000260814 LOC105370795 RPAP1
GH15J043823 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.7 +456.8 456807 5.7 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 GLIS1 NBN WDR76 MFAP1 CTDSPL2 SPG11 ZSCAN29 ENSG00000259563 LCMT2 ENSG00000249839 ELL3 ADAL
GH15J044286 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 16.7 +919.6 919572 3.7 HDGF PKNOX1 SMAD1 NEUROD1 SIN3A FEZF1 DMAP1 IRF4 YY1 ZNF207 GC15M044288 CASC4 CTDSPL2 LCMT2 ENSG00000259563 ZSCAN29 WDR76 SPG11 TUBGCP4 ENSG00000249839
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBGCP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TUBGCP4 gene promoter:
  • GR
  • PPAR-gamma2
  • RSRFC4
  • GR-alpha
  • GR-beta
  • C/EBPalpha
  • CHOP-10
  • PPAR-gamma1
  • C/EBPbeta
  • NRSF form 2

Genomic Locations for TUBGCP4 Gene

Genomic Locations for TUBGCP4 Gene
chr15:43,369,221-43,409,771
(GRCh38/hg38)
Size:
40,551 bases
Orientation:
Plus strand
chr15:43,661,419-43,699,293
(GRCh37/hg19)
Size:
37,875 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

Blocks:
InterPro:
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBGCP4

Clone Products

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:0007020 microtubule nucleation IEA,NAS 10562286
GO:0031122 cytoplasmic microtubule organization IBA --
GO:0051298 centrosome duplication IBA --
GO:0051321 meiotic cell cycle IBA --
GO:0051415 microtubule nucleation by interphase microtubule organizing center 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBGCP4

Clone Products

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, 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
Regions:
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

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 34 33
  • 99.9 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUBGCP4 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBGCP4 34 33
  • 92.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TUBGCP4 34 33
  • 91.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tubgcp4 16 34 33
  • 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 34 33
  • 80.95 (n)
OneToOne
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 34 33
  • 75.58 (n)
OneToOne
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 34 33
  • 42.73 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for TUBGCP4: view image

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 Variation AA Info Type
rs200092283 pathogenic, Microcephaly and chorioretinopathy, autosomal recessive, 3, not provided 43,403,697(+) G/T coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs794726855 pathogenic, Microcephaly and chorioretinopathy, autosomal recessive, 3 43,383,360(+) T/TT coding_sequence_variant, frameshift, non_coding_transcript_variant
rs794726856 pathogenic, Microcephaly and chorioretinopathy, autosomal recessive, 3 43,376,592(+) TT/T 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs886039671 pathogenic, not provided 43,385,793(+) C/AA coding_sequence_variant, frameshift, non_coding_transcript_variant
rs117773969 likely-benign, not specified 43,395,164(+) G/A intron_variant

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
microcephaly and chorioretinopathy, autosomal recessive, 3
  • mccrp3
autosomal recessive chorioretinopathy-microcephaly syndrome
  • autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
microcephaly
  • microcephalus
esophageal varix
  • bleeding esophageal varices
- 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.

Additional Disease Information for TUBGCP4

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 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 58
  2. ATF5 Connects the Pericentriolar Materials to the Proximal End of the Mother Centriole. (PMID: 26213385) Madarampalli B … Liu DX (Cell 2015) 3 4 58
  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 58
  4. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson JE … Couch FJ (Breast cancer research and treatment 2011) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for TUBGCP4 Gene

Sources for TUBGCP4 Gene

Content
Loading form....