POF1B

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

POF1B

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
3BH9

Identifiers

POF1B, POF, POF2B, premature ovarian failure, 1B, actin binding protein, POF1B actin binding protein

External IDs

OMIM: 300603; MGI: 1916943; HomoloGene: 11785; GeneCards: POF1B; OMA:POF1B - orthologs

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	Xq21.1	Start	85,277,396 bp^[1]
Band	Xq21.1	End	85,379,717 bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	X\|X E1	Start	111,548,128 bp^[2]
Band	X\|X E1	End	111,608,348 bp^[2]

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

skin of arm

skin of leg

skin of abdomen

rectum

skin of thigh

mucosa of sigmoid colon

skin of hip

jejunal mucosa

gums

mucosa of transverse colon

Top expressed in

skin of external ear

skin of back

epidermis

hair follicle

umbilical cord

conjunctival fornix

transitional epithelium of urinary bladder

left colon

epithelium of stomach

mucous cell of stomach

More reference expression data


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

Species

Human

Mouse


79983


69693


ENSG00000124429


ENSMUSG00000034607


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 Mb

Chr X: 111.55 – 111.61 Mb

PubMed search

^[3]

^[4]

View/Edit Human

View/Edit Mouse

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000124429 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034607 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "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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