POF1B

Protein-coding gene in the species Homo sapiens
POF1B
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3BH9

Identifiers
AliasesPOF1B, POF, POF2B, premature ovarian failure, 1B, actin binding protein, POF1B actin binding protein
External IDsOMIM: 300603; MGI: 1916943; HomoloGene: 11785; GeneCards: POF1B; OMA:POF1B - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for POF1B
Genomic location for POF1B
BandXq21.1Start85,277,396 bp[1]
End85,379,717 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for POF1B
Genomic location for POF1B
BandX|X E1Start111,548,128 bp[2]
End111,608,348 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • skin of abdomen

  • rectum

  • jejunal mucosa

  • gums

  • cervix epithelium

  • duodenum

  • epithelium of esophagus

  • human penis

  • vulva

  • amniotic fluid
Top expressed in
  • skin of back

  • epidermis

  • hair follicle

  • belly cord

  • conjunctival fornix

  • left colon

  • epithelium of stomach

  • mucous cell of stomach

  • esophagus

  • Paneth cell
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • actin binding
  • actin filament binding
Cellular component
  • desmosome
  • cell junction
  • actin filament
  • adherens junction
  • bicellular tight junction
Biological process
  • epithelial cell morphogenesis
  • actin filament organization
  • actin cytoskeleton organization
  • bicellular tight junction assembly
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

79983

69693

Ensembl

ENSG00000124429

ENSMUSG00000034607

UniProt

Q8WVV4

Q8K4L4

RefSeq (mRNA)

NM_001307940
NM_024921

NM_181579

RefSeq (protein)

NP_001294869
NP_079197

NP_853557

Location (UCSC)Chr X: 85.28 – 85.38 MbChr X: 111.55 – 111.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein POF1B is a protein that in humans is encoded by the POF1B gene.[5][6]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000124429 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034607 – Ensembl, 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. ^ Bione S, Toniolo D (Apr 2001). "X chromosome genes and premature ovarian failure". Semin Reprod Med. 18 (1): 51–7. doi:10.1055/s-2000-13475. PMID 11299520. S2CID 46587536.
  6. ^ "Entrez Gene: POF1B premature ovarian failure, 1B".

Further reading

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Bione S, Rizzolio F, Sala C, et al. (2005). "Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B". Hum. Reprod. 19 (12): 2759–66. doi:10.1093/humrep/deh502. PMID 15459172.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
  • Lacombe A, Lee H, Zahed L, et al. (2006). "Disruption of POF1B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure". Am. J. Hum. Genet. 79 (1): 113–9. doi:10.1086/505406. PMC 1474115. PMID 16773570.


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