| Tbio | Protein POF1B |
Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development.
Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]
Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| periodontitis | 269 | 3.58335938208019E-29 |
| lung carcinoma | 2844 | 7.84879569266966E-17 |
| non-small cell lung cancer | 2798 | 8.73179879308989E-9 |
| lung cancer | 4473 | 1.92534592118761E-6 |
| pancreatic cancer | 2300 | 1.0451486508117E-5 |
| interstitial cystitis | 2299 | 1.09171678242831E-5 |
| intraductal papillary-mucinous adenoma (IPMA) | 2956 | 3.82121822958899E-4 |
| Atopic dermatitis | 944 | 4.05017742585276E-4 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3289 | 0.00275448526874102 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2988 | 0.00444667291931465 |
| psoriasis | 6685 | 0.00539113841539205 |
| spina bifida | 1064 | 0.0338840927787601 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Premature ovarian failure | 64 | 5.204 | 2.6 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Polyhydramnios | 29 | 3.391 | 1.7 |
| Ovarian dysfunction | 19 | 3.235 | 1.6 |
| Disease | Target Count |
|---|---|
| Premature ovarian failure 2B | 1 |
| Disease | log2 FC | p |
|---|---|---|
| periodontitis | -1.400 | 0.000 |
| Atopic dermatitis | -2.300 | 0.000 |
| non-small cell lung cancer | 1.450 | 0.000 |
| intraductal papillary-mucinous adenoma (... | 1.900 | 0.000 |
| intraductal papillary-mucinous carcinoma... | 2.000 | 0.004 |
| intraductal papillary-mucinous neoplasm ... | 2.100 | 0.003 |
| lung cancer | 3.100 | 0.000 |
| pancreatic cancer | 1.500 | 0.000 |
| interstitial cystitis | -3.300 | 0.000 |
| psoriasis | 1.100 | 0.005 |
| lung carcinoma | 2.100 | 0.000 |
| spina bifida | -2.333 | 0.034 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG |
| Pig | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Chicken | OMA EggNOG Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 25084053 | POF1B was restricted to granular layers in human healthy epidermis, whereas it largely increased in hyperproliferative human skin diseases, thus demonstrating the localization of POF1B also in desmosomes of multistratified epithelia. |
| 21940798 | The POF1B candidate gene for premature ovarian failure regulates epithelial polarity |
| 20734064 | Observational study of gene-disease association. (HuGE Navigator) |
| 15459172 | Observational study of gene-disease association. (HuGE Navigator) |
| 15459172 | Our findings could not demonstrate any involvement of POF1B in premature ovarian failure |
MSSSYWSETSSSSCGTQQLPEVLQCQPQHYHCYHQSSQAQQPPEKNVVYERVRTYSGPMNKVVQALDPFN 1 - 70 SREVLSPLKTTSSYQNLVWSDHSQELHSPTLKISTCAPSTLHITQNTEQELHSPTVKLTTYPQTTIRKYV 71 - 140 VQNPEQEPLSQFLRGSHFFPGNNVIYEKTIRKVEKLNTDQGCHPQAQCHHHIIQQPQVIHSAHWQQPDSS 141 - 210 QQIQAITGNNPISTHIGNELCHSGSSQICEQVIIQDDGPEKLDPRYFGELLADLSRKNTDLYHCLLEHLQ 211 - 280 RIGGSKQDFESTDESEDIESLIPKGLSEFTKQQIRYILQMRGMSDKSLRLVLSTFSNIREELGHLQNDMT 281 - 350 SLENDKMRLEKDLSFKDTQLKEYEELLASVRANNHQQQQGLQDSSSKCQALEENNLSLRHTLSDMEYRLK 351 - 420 ELEYCKRNLEQENQNLRMQVSETCTGPMLQAKMDEIGNHYTEMVKNLRMEKDREICRLRSQLNQYHKDVS 421 - 490 KREGSCSDFQFKLHELTSLLEEKDSLIKRQSEELSKLRQEIYSSHNQPSTGGRTTITTKKYRTQYPILGL 491 - 560 LYDDYEYIPPGSETQTIVIEKTEDKYTCP 561 - 589 //
| PMID | Year | Title |
|---|---|---|
| 25084053 | 2015 | POF1B localizes to desmosomes and regulates cell adhesion in human intestinal and keratinocyte cell lines. |
| 24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. |
| 21940798 | 2011 | The POF1B candidate gene for premature ovarian failure regulates epithelial polarity. |
| 20734064 | 2010 | A large-scale candidate gene association study of age at menarche and age at natural menopause. |
| 18029348 | 2008 | Toward a confocal subcellular atlas of the human proteome. |
| 17123869 | 2007 | Spatial and temporal expression of POF1B, a gene expressed in epithelia. |
| 16773570 | 2006 | Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. |
| 15772651 | 2005 | The DNA sequence of the human X chromosome. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| 15459172 | 2004 | Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. |
| More... |
