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 d... See more...

Aliases for TUBGCP4 Gene

Aliases for TUBGCP4 Gene

  • Tubulin Gamma Complex Associated Protein 4 2 3 5
  • 76P 2 3 4
  • Gamma-Tubulin Complex Component 4 3 4
  • Gamma-Ring Complex Protein 76 KDa 3 4
  • GCP-4 3 4
  • GCP4 3 4
  • Gamma Tubulin Ring Complex Protein (76p Gene) 3
  • Tubulin, Gamma Complex Associated Protein 4 2
  • FLJ14797 2
  • TUBGCP4 5
  • 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. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is TUBGCP6.

UniProtKB/Swiss-Prot Summary for TUBGCP4 Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBGCP4 Gene

Genomics for TUBGCP4 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH15J043368 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.5 1480 3.8 HNRNPL GATAD2A CTCF PRDM10 ZNF629 IKZF1 NFKBIZ POLR2A ZNF692 MTA2 ZSCAN29 5EW4_A-015 TUBGCP4 lnc-TP53BP1-4 ADAL TGM7
GH15J043367 Promoter 0.3 Ensembl 600.7 -1.4 -1420 0.4 TUBGCP4 ZSCAN29 piR-39834 LCMT2
GH15J042490 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 27.9 -873.6 -873647 12.3 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 LEF1 SNAP23 ZNF106 lnc-HAUS2-1 TUBGCP4 LRRC57 HAUS2 GANC ENSG00000260814 MGA LCMT2
GH15J043823 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.7 +456.9 456866 5.8 CREB1 GATAD2A PRDM10 ZNF629 REST LEF1 IKZF1 NFKBIZ KDM1A ZNF692 WDR76 MFAP1 PPIP5K1P1 ZSCAN29 SPG11 ADAL CATSPER2 CTDSPL2 TUBGCP4 PPIP5K1
GH15J044286 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.7 +919.8 919780 4.4 BRCA1 ARHGAP35 SP1 PRDM10 RFX1 CTCF BACH1 JUND LARP7 GABPA GOLM2 lnc-FRMD5-1 lnc-FRMD5-3 CTDSPL2 ZSCAN29 ENSG00000259563 LCMT2 SPG11 WDR76 MFAP1
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBGCP4

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

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=Truncated N-terminus.; 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 Lys358
  • 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:
  • Spc97/Spc98
ProtoNet:

Suggested Antigen Peptide Sequences for TUBGCP4 Gene

GenScript: Design optimal peptide antigens:
  • Gamma-ring complex protein 76 kDa (GCP4_HUMAN)
  • TUBGCP4 protein (Q9BVR6_HUMAN)

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 10562286
GO:0005515 protein binding IPI 19060904
GO:0043015 gamma-tubulin binding IEA,IBA 21873635
GO:0051011 contributes_to microtubule minus-end binding IBA 21873635
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

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
endosome 5
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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 21873635
GO:0000930 gamma-tubulin complex IBA 21873635
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:0000226 microtubule cytoskeleton organization IEA --
GO:0000278 mitotic cell cycle IBA 21873635
GO:0007020 microtubule nucleation IEA,NAS 10562286
GO:0031122 cytoplasmic microtubule organization IBA 21873635
GO:0051225 spindle assembly IBA 21873635
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

mRNA/cDNA for TUBGCP4 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

Expression for TUBGCP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.2)
  • Nervous system(3.5)
  • Skin(2.1)

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 30 31
  • 99.9 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TUBGCP4 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TUBGCP4 30 31
  • 92.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TUBGCP4 30 31
  • 91.99 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tubgcp4 30 17 31
  • 90.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tubgcp4 30
  • 90.29 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TUBGCP4 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TUBGCP4 30 31
  • 80.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TUBGCP4 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tubgcp4 30
  • 77.04 (n)
Str.3574 30
Zebrafish
(Danio rerio)
Actinopterygii tubgcp4 30 31
  • 75.58 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11204 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008847 30
  • 46.73 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Grip75 30 31
  • 42.73 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPC98 31
  • 10 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons GCP4 30
  • 46.88 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0154500 30
  • 47.31 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Species where no ortholog for TUBGCP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBGCP4 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
709094 Likely Benign: not provided 43,398,096(+) T/C SYNONYMOUS_VARIANT
711616 Benign: not provided 43,380,079(+) C/T INTRON_VARIANT
716409 Benign: not provided 43,385,798(+) T/C MISSENSE_VARIANT
726427 Likely Benign: not provided 43,400,143(+) G/A SYNONYMOUS_VARIANT
731175 Likely Benign: not provided 43,376,103(+) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TUBGCP4 Gene

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

(5) MalaCards diseases for TUBGCP4 Gene - From: 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
plasmodium malariae malaria
  • malaria by plasmodium malariae
microphthalmia
  • microphthalmos
- 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
Open Targets Platform
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
  2. 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
  3. ATF5 Connects the Pericentriolar Materials to the Proximal End of the Mother Centriole. (PMID: 26213385) Madarampalli B … Liu DX (Cell 2015) 3 4
  4. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson JE … Couch FJ (Breast cancer research and treatment 2011) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for TUBGCP4 Gene

  • Signalway Proteins for TUBGCP4

Sources for TUBGCP4 Gene