POF1B

GENERAL INFORMATION

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Gene name

POF1B

Gene description

Premature ovarian failure, 1B

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (skin)
GTEx:Group enriched (skin)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA002033
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (skin)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (skin)

Organ

Expression



GENE INFORMATION

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Gene name

POF1B (HGNC Symbol)

Synonyms

FLJ22792, POF

Description

Premature ovarian failure, 1B (HGNC Symbol)

Entrez gene summary

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]

Chromosome

X

Cytoband

q21.1

Chromosome location (bp)

85277396 - 85379743

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124429 (version 78.38)

Entrez gene

79983

UniProt

Q8WVV4 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WVV4

Antibodypedia

POF1B antibodies


PROTEIN BROWSER

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ENST00000262753
 
ENST00000373145
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

POF1B-001 ENSP00000262753
ENST00000262753
Q8WVV4
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Show » Show » 589 68.1 No 0
POF1B-002 ENSP00000362238
ENST00000373145
Q8WVV4
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Show » Show » 595 68.7 No 0