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STARD8

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Protein-coding gene in the species Homo sapiens

STARD8
Identifiers
AliasesSTARD8, ARHGAP38, DLC3, STARTGAP3, StAR related lipid transfer domain containing 8
External IDsOMIM: 300689; MGI: 2448556; HomoloGene: 22837; GeneCards: STARD8; OMA:STARD8 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)
X chromosome (human)Genomic location for STARD8Genomic location for STARD8
BandXq13.1Start68,647,666 bp
End68,725,842 bp
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)
X chromosome (mouse)Genomic location for STARD8Genomic location for STARD8
BandX|X C3Start98,046,854 bp
End98,118,334 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lung

  • upper lobe of left lung

  • apex of heart

  • olfactory bulb

  • human kidney

  • testicle

  • left ventricle

  • right lobe of thyroid gland

  • left uterine tube

  • left lobe of thyroid gland
Top expressed in
  • stroma of bone marrow

  • yolk sac

  • right lung lobe

  • sciatic nerve

  • left lung

  • extraocular muscle

  • dermis

  • left lung lobe

  • myocardium of ventricle

  • human kidney
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

9754

236920

Ensembl

ENSG00000130052

ENSMUSG00000031216

UniProt

Q92502

Q8K031

RefSeq (mRNA)

NM_001142503
NM_001142504
NM_014725

NM_199018

RefSeq (protein)

NP_001135975
NP_001135976
NP_055540

NP_950183

Location (UCSC)Chr X: 68.65 – 68.73 MbChr X: 98.05 – 98.12 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

StAR-related lipid transfer domain protein 8 (STARD8) also known as deleted in liver cancer 3 protein (DLC-3) is a protein that in humans is encoded by the STARD8 gene and is a member of the DLC family.

Structure and function

The protein is 1103 amino acids long, which like other DLC proteins consists of a sterile alpha motif (SAM), RhoGAP and a StAR-related lipid-transfer (START) domains.

The protein is a Rho GTPase-activating protein (GAP), a type of protein that regulates members of the Rho family of GTPases. STARD8 is characterized as activating Rho GTPases. Its expression inhibits the growth of human breast and prostate cancer cells in culture.

Tissue distribution and pathology

The protein is expressed in tissues throughout the body, but is absent or reduced in many kinds of tumor cells.

While there are no known disorders caused by STARD8, partial loss of the STARD8 gene occurs in cases of craniofrontonasal syndrome where the EFNB1 gene (which causes the syndrome) is completely deleted.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000130052Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031216Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: StAR-related lipid transfer (START) domain containing 8".
  6. Nagase T, Seki N, Ishikawa K, Tanaka A, Nomura N (Feb 1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research. 3 (1): 17–24. doi:10.1093/dnares/3.1.17. PMID 8724849.
  7. ^ Durkin ME, Ullmannova V, Guan M, Popescu NC (Jul 2007). "Deleted in liver cancer 3 (DLC-3), a novel Rho GTPase-activating protein, is downregulated in cancer and inhibits tumor cell growth". Oncogene. 26 (31): 4580–9. doi:10.1038/sj.onc.1210244. PMID 17297465. S2CID 5867743.
  8. Twigg SR, Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO (Jun 2006). "The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males". American Journal of Human Genetics. 78 (6): 999–1010. doi:10.1086/504440. PMC 1474108. PMID 16685650.
  9. Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P (Dec 2007). "Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome". Clinical Genetics. 72 (6): 506–16. doi:10.1111/j.1399-0004.2007.00905.x. PMID 17941886. S2CID 33823266.

Further reading


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