Protein-coding gene in the species Homo sapiens
POF1B Available structures PDB Ortholog search: PDBe RCSB
Identifiers Aliases POF1B , POF, POF2B, premature ovarian failure, 1B, actin binding protein, POF1B actin binding proteinExternal 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] End 85,379,717 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X E1 Start 111,548,128 bp[2] End 111,608,348 bp[2]
RNA expression pattern Bgee 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 belly cord conjunctival fornix transitional epithelium of urinary bladder left colon epithelium of stomach mucous cell of stomach
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 Species Human Mouse Entrez Ensembl UniProt RefSeq (mRNA) RefSeq (protein) Location (UCSC) Chr X: 85.28 – 85.38 Mb Chr X: 111.55 – 111.61 Mb PubMed search [3] [4]
Wikidata View/Edit Human View/Edit Mouse
Protein POF1B is a protein that in humans is encoded by the POF1B gene.[5] [6]
^ 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".
Last Update: 2024-01-13T10:15:46Z
Protein POF1B is a protein that in humans is encoded by the POF1B gene. GRCh38: Ensembl release 89: ENSG00000124429 – Ensembl, May 2017 GRCm38: Ensembl...
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Last Update: 2024-04-29T04:50:21Z
POF1 311360 FMR1 Xq26-q28 POF2A 300511 DIAPH2 Xq13.3-q21.1 POF2B 300604 POF1B Xq13.3-q21.1 POF3 608996 FOXL2 3q23 POF4 300510 BMP15 Xp11.2 POF5 611548...
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Last Update: 2024-06-19T15:20:02Z
hyperplasia; 46,XX gonadal dysgenesis and 46,XX primary ovarian insufficiency POF1B Premature ovarian failure 1B Hypergonadotrophic, primary amenorrhea (POF2B)...
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Last Update: 2023-07-31T15:12:24Z
analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B ". Human Reproduction. 19 (12): 2759–66. doi:10.1093/humrep/deh502. PMID 15459172...
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