GAS8
Dynein regulatory complex subunit 4
Also known as: DRC4, DRC4_HUMAN, GAS11
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95995
- Gene
- GAS8
- Ensembl
- ENSG00000141013
- Chromosome
- 16
- Canonical length
- 478 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus,Vesicles,Plasma membrane,Primary cilium,Cytosol,Mid piece,Principal piece,End piece
OverviewNCBI Gene
This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Canonical amino-acid sequenceUniProt
478 residues, UniProt reviewed canonical sequence.
>O95995|GAS8
1 MAPKKKGKKG KAKGTPIVDG LAPEDMSKEQ VEEHVSRIRE ELDREREERN YFQLERDKIH
61 TFWEITRRQL EEKKAELRNK DREMEEAEER HQVEIKVYKQ KVKHLLYEHQ NNLTEMKAEG
121 TVVMKLAQKE HRIQESVLRK DMRALKVELK EQELASEVVV KNLRLKHTEE ITRMRNDFER
181 QVREIEAKYD KKMKMLRDEL DLRRKTELHE VEERKNGQIH TLMQRHEEAF TDIKNYYNDI
241 TLNNLALINS LKEQMEDMRK KEDHLEREMA EVSGQNKRLA DPLQKAREEM SEMQKQLANY
301 ERDKQILLCT KARLKVREKE LKDLQWEHEV LEQRFTKVQQ ERDELYRKFT AAIQEVQQKT
361 GFKNLVLERK LQALSAAVEK KEVQFNEVLA ASNLDPAALT LVSRKLEDVL ESKNSTIKDL
421 QYELAQVCKA HNDLLRTYEA KLLAFGIPLD NVGFKPLETA VIGQTLGQGP AGLVGTPTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GAS8 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)
- 0.5
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 18 nTPM
- fallopian tube: 18 nTPM
- testis: 16 nTPM
- parathyroid gland: 15 nTPM
- pituitary gland: 15 nTPM
- skeletal muscle: 15 nTPM
Single-cell type
- late spermatids: 409 nCPM
- early spermatids: 221 nCPM
- respiratory ciliated cells: 125 nCPM
- fallopian tube ciliated cells: 108 nCPM
- late primary spermatocytes: 89 nCPM
- epididymal efferent duct ciliated cells: 76 nCPM
Immune cell
- intermediate monocyte: 2.1 nTPM
- plasmacytoid DC: 1.9 nTPM
- myeloid DC: 1.8 nTPM
- basophil: 1.7 nTPM
- neutrophil: 1.6 nTPM
- T-reg: 1.6 nTPM
Brain region
- cerebral cortex: 15 nTPM
- choroid plexus: 12 nTPM
- thalamus: 9 nTPM
- spinal cord: 7.5 nTPM
- medulla oblongata: 7.4 nTPM
- pons: 7.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GAS8.
Disease | AllUniProt
Conditions GAS8 is implicated in, by any mechanism.
- Ciliary dyskinesia, primary, 33 (CILD33) MIM:616726
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 50 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Primary ciliary dyskinesia 33
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)
- 1.19
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.92
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
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
- axoneme assembly
- brain development
- cilium movement involved in cell motility
- cilium organization
- determination of left/right symmetry
- epithelial cilium movement involved in extracellular fluid movement
- establishment of localization in cell
- flagellated sperm motility
- microtubule cytoskeleton organization
- negative regulation of cell population proliferation
- positive regulation of protein localization to cilium
- positive regulation of smoothened signaling pathway
- protein localization to cilium
- protein-containing complex assembly
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Growth arrest-specific protein 8 domain
- Growth arrest-specific protein 8
- Growth-arrest specific micro-tubule binding
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GAS8 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 GAS8 as an antibody target. Whether an autoantibody or antibody against GAS8 could matter depends on whether native GAS8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GAS8 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 GAS8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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