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

Gene ID: 69693, updated on 26-Sep-2022

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
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Genomic context

See Pof1b in Genome Data Viewer
Location:
X; X E1
Exon count:
17
Annotation release Status Assembly Chr Location
109 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_000086.8Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2010106E10 gene Neighboring gene zinc finger protein 711 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene replication factor C (activator 1) 4 pseudogene Neighboring gene lactate dehydrogenase A pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
located_in adherens junction ISO
Inferred from Sequence Orthology
more info
 
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in bicellular tight junction ISO
Inferred from Sequence Orthology
more info
 
located_in cell junction IEA
Inferred from Electronic Annotation
more info
 
located_in desmosome ISO
Inferred from Sequence Orthology
more info
PubMed 

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.

mRNA and Protein(s)

  1. NM_181579.1NP_853557.1  protein POF1B

    See identical proteins and their annotated locations for NP_853557.1

    Status: VALIDATED

    Source sequence(s)
    AF408412, AK086511, AK137653
    Consensus CDS
    CCDS30362.1
    UniProtKB/Swiss-Prot
    Q8K4L4, Q8R4R8
    Related
    ENSMUSP00000047655.4, ENSMUST00000039887.4
    Conserved Domains (2) summary
    pfam14662
    Location:347533
    KASH_CCD; Coiled-coil region of CCDC155 or KASH
    cl23720
    Location:309482
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    111548124..111608408 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006528407.2XP_006528470.1  protein POF1B isoform X1

    See identical proteins and their annotated locations for XP_006528470.1

    Conserved Domains (1) summary
    TIGR02169
    Location:273529
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
  2. XM_006528406.2XP_006528469.1  protein POF1B isoform X1

    See identical proteins and their annotated locations for XP_006528469.1

    Conserved Domains (1) summary
    TIGR02169
    Location:273529
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type