Pof1b premature ovarian failure 1B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pof1bprovided by MGI
Official Full Name: premature ovarian failure 1Bprovided by MGI
Primary source: MGI:MGI:1916943
See related: Ensembl:ENSMUSG00000034607 AllianceGenome:MGI:1916943
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2310066B14Rik
Summary: Predicted to enable actin filament binding activity. Predicted to be involved in actin filament organization; bicellular tight junction assembly; and epithelial cell morphogenesis. Predicted to be located in desmosome. Predicted to be active in actin filament; adherens junction; and bicellular tight junction. Is expressed in several structures, including alimentary system; genitourinary system; nose; respiratory system; and skin. Human ortholog(s) of this gene implicated in primary ovarian insufficiency 2B. Orthologous to human POF1B (POF1B actin binding protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bladder adult (RPKM 4.4), colon adult (RPKM 3.5) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: X E1; X 48.76 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (111548124..111608408, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (112638427..112698711, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The data show that during mouse development Pof1b expression is activated in the external layers of the epidermis just prior to formation of the epidermal permeability barrier.
Title: Spatial and temporal expression of POF1B, a gene expressed in epithelia.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-71h9 (e-PCR)
- UniSTS:258166

px-25c6 (e-PCR)
- UniSTS:257468

Pof1b (e-PCR), detects polymorphism
- UniSTS:499138

Pof1b (e-PCR), detects polymorphism
- UniSTS:499139

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	ISO Inferred from Sequence Orthology more info
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicellular tight junction assembly	ISO Inferred from Sequence Orthology more info
involved_in epithelial cell morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in epithelial cell morphogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in actin filament	ISO Inferred from Sequence Orthology more info
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	ISO Inferred from Sequence Orthology more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	ISO Inferred from Sequence Orthology more info
located_in desmosome	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: protein POF1B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.