POF1B - POF1B actin binding protein Gene

Homo sapiens

Also known as POF; POF2B

Gene ID: 79983 | Gene type: protein coding

About POF1B

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:85,277,396-85,379,665 (from NCBI)

This gene has 2 transcripts (splice variants), 185 orthologues and is associated with 2 phenotypes. Biased expression in skin (RPKM 60.6), colon (RPKM 34.9) and 8 other tissues.

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]

POF1B Products(2)

mRNA	Protein	Name
NM_001307940.2	NP_001294869.1	protein POF1B isoform 2
NM_024921.4	NP_079197.3	protein POF1B isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin filament binding	IMP IMP: Inferred from mutant phenotype	16773570	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	16773570	GOA
involved in actin filament organization	IMP IMP: Inferred from mutant phenotype	21940798	GOA
involved in bicellular tight junction assembly	IMP IMP: Inferred from mutant phenotype	21940798	GOA
involved in epithelial cell morphogenesis	IMP IMP: Inferred from mutant phenotype	21940798	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in actin filament	IDA IDA: Inferred from direct assay	16773570	GOA
located in adherens junction	IDA IDA: Inferred from direct assay	21940798	GOA
located in bicellular tight junction	IDA IDA: Inferred from direct assay	21940798	GOA
located in desmosome	IDA IDA: Inferred from direct assay	17123869	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

protein POF1B

premature ovarian failure protein 1B

Related Diseases

Diseases

Alias

Premature Ovarian Failure 2b

POF2B

Ovarian Failure, Premature, Type 2b

Amenorrhea

Absence Of Menstruation

Amenia

Cerebrooculofacioskeletal Syndrome 2

COFS2	Cerebro-Oculo-Facio-Skeletal Syndrome 2
Cofs Syndrome

Deafness, X-Linked 7

X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome	DFNX7
X-Linked Deafness 7	Deafness, X-Linked, 7

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10810	POF1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	POF1B	RGD	RGD:1560798
Macaca mulatta	POF1B	VGNC	VGNC:76022
Bos taurus	POF1B	VGNC	VGNC:33104
Felis catus	POF1B	VGNC	VGNC:64276
Canis familiaris	POF1B	VGNC	VGNC:44766
Mus musculus	POF1B	MGD	MGI:1916943

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