FEZF1

FEZF1
Identifiers
AliasesFEZF1, FEZ, ZNF312B, HH22, FEZ family zinc finger 1
External IDsMGI: 1920441 HomoloGene: 19252 GeneCards: FEZF1
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q31.32Start122,301,394 bp[1]
End122,310,691 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

389549

73191

Ensembl

ENSG00000128610

ENSMUSG00000029697

UniProt

A0PJY2

Q0VDQ9

RefSeq (mRNA)

NM_001024613
NM_001160264

NM_028462

RefSeq (protein)

NP_001019784
NP_001153736

NP_082738

Location (UCSC)Chr 7: 122.3 – 122.31 MbChr 6: 23.25 – 23.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FEZ family zinc finger 1 is a protein that in humans is encoded by the FEZF1 gene.[5]

Clinical significance

Mutations in FEZF1 cause Kallmann Syndrome .[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000128610 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029697 - Ensembl, May 2017
  3. "Human PubMed Reference:".
  4. "Mouse PubMed Reference:".
  5. "Entrez Gene: FEZ family zinc finger 1".
  6. Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S, Topaloglu AK (September 2014). "Mutations in FEZF1 cause Kallmann syndrome". American Journal of Human Genetics. 95 (3): 326–31. doi:10.1016/j.ajhg.2014.08.006. PMC 4157145. PMID 25192046.

Further reading

  • Song IS, Oh NS, Kim HT, Ha GH, Jeong SY, Kim JM, Kim DI, Yoo HS, Kim CH, Kim NS (April 2009). "Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene". Cancer Research. 69 (7): 3131–9. doi:10.1158/0008-5472.CAN-08-2240. PMID 19318583.
  • Ulrich M, Seeber S, Becker CM, Enz R (January 2007). "Tax1-binding protein 1 is expressed in the retina and interacts with the GABA(C) receptor rho1 subunit". The Biochemical Journal. 401 (2): 429–36. doi:10.1042/BJ20061036. PMC 1820818. PMID 16999686.
  • Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP (September 2010). "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility". Molecular Psychiatry. 15 (9): 954–68. doi:10.1038/mp.2009.34. PMC 2934739. PMID 19401682.
  • Song IS, Ha GH, Kim JM, Jeong SY, Lee HC, Kim YS, Kim YJ, Kwon TK, Kim NS (November 2011). "Human ZNF312b oncogene is regulated by Sp1 binding to its promoter region through DNA demethylation and histone acetylation in gastric cancer". International Journal of Cancer. 129 (9): 2124–33. doi:10.1002/ijc.25871. PMID 21170990.


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