Seroatlas · Human Serome Atlas

TUBGCP4

Gamma-tubulin complex component 4

Also known as: 76P, FLJ14797, GCP4_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UGJ1
Gene
TUBGCP4
Ensembl
ENSG00000137822
Chromosome
15
Canonical length
667 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Centrosome

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

667 residues, UniProt reviewed canonical sequence.

>Q9UGJ1|TUBGCP4
     1  MIHELLLALS GYPGSIFTWN KRSGLQVSQD FPFLHPSETS VLNRLCRLGT DYIRFTEFIE
    61  QYTGHVQQQD HHPSQQGQGG LHGIYLRAFC TGLDSVLQPY RQALLDLEQE FLGDPHLSIS
   121  HVNYFLDQFQ LLFPSVMVVV EQIKSQKIHG CQILETVYKH SCGGLPPVRS ALEKILAVCH
   181  GVMYKQLSAW MLHGLLLDQH EEFFIKQGPS SGNVSAQPEE DEEDLGIGGL TGKQLRELQD
   241  LRLIEEENML APSLKQFSLR VEILPSYIPV RVAEKILFVG ESVQMFENQN VNLTRKGSIL
   301  KNQEDTFAAE LHRLKQQPLF SLVDFEQVVD RIRSTVAEHL WKLMVEESDL LGQLKIIKDF
   361  YLLGRGELFQ AFIDTAQHML KTPPTAVTEH DVNVAFQQSA HKVLLDDDNL LPLLHLTIEY
   421  HGKEHKADAT QAREGPSRET SPREAPASGW AALGLSYKVQ WPLHILFTPA VLEKYNVVFK
   481  YLLSVRRVQA ELQHCWALQM QRKHLKSNQT DAIKWRLRNH MAFLVDNLQY YLQVDVLESQ
   541  FSQLLHQINS TRDFESIRLA HDHFLSNLLA QSFILLKPVF HCLNEILDLC HSFCSLVSQN
   601  LGPLDERGAA QLSILVKGFS RQSSLLFKIL SSVRNHQINS DLAQLLLRLD YNKYYTQAGG
   661  TLGSFGM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TUBGCP4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
12 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 12 nTPM
  • retina: 10 nTPM
  • tongue: 9.1 nTPM
  • skeletal muscle: 8.9 nTPM
  • parathyroid gland: 7.8 nTPM
  • cerebral cortex: 6 nTPM

Single-cell type

  • late spermatids: 79 nCPM
  • rod photoreceptor cells: 54 nCPM
  • retinal horizontal cells: 52 nCPM
  • epicardial cells: 50 nCPM
  • early spermatids: 47 nCPM
  • cardiomyocytes: 47 nCPM

Immune cell

  • eosinophil: 14 nTPM
  • myeloid DC: 5.3 nTPM
  • NK-cell: 5.3 nTPM
  • gdT-cell: 3.7 nTPM
  • memory B-cell: 3.6 nTPM
  • T-reg: 3.3 nTPM

Brain region

  • cerebellum: 15 nTPM
  • cerebral cortex: 12 nTPM
  • basal ganglia: 12 nTPM
  • choroid plexus: 11 nTPM
  • white matter: 11 nTPM
  • pons: 9.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TUBGCP4.

Disease | AllUniProt

Conditions TUBGCP4 is implicated in, by any mechanism.

  • Microcephaly and chorioretinopathy, autosomal recessive, 3 (MCCRP3) MIM:616335

Disease | GeneticClinVar

44 pathogenic / likely-pathogenic of 580 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Microcephaly and chorioretinopathy 3
  • Autosomal recessive chorioretinopathy-microcephaly syndrome
  • TUBGCP4-related disorder
  • See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.72
gnomAD pLI
0
gnomAD missense Z
2.58
DepMap mean gene effect
-1.39
DepMap dependency class
pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TUBGCP4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TUBGCP4 as an antibody target. Whether an autoantibody or antibody against TUBGCP4 could matter depends on whether native TUBGCP4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TUBGCP4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TUBGCP4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TUBGCP4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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