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Pmfbp1 polyamine modulated factor 1 binding protein 1 [ Mus musculus (house mouse) ]

Gene ID: 56523, updated on 8-May-2024

Summary

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Official Symbol
Pmfbp1provided by MGI
Official Full Name
polyamine modulated factor 1 binding protein 1provided by MGI
Primary source
MGI:MGI:1930136
See related
Ensembl:ENSMUSG00000031727 AllianceGenome:MGI:1930136
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
F77; Stap; 1700016D22Rik
Summary
Involved in spermatogenesis. Located in cytoplasm and sperm connecting piece. Is expressed in central nervous system; dorsal root ganglion; and neural retina. Used to study male infertility and spermatogenic failure 31. Human ortholog(s) of this gene implicated in spermatogenic failure 31. Orthologous to human PMFBP1 (polyamine modulated factor 1 binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis adult (RPKM 27.4) See more
Orthologs
human all
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Genomic context

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See Pmfbp1 in Genome Data Viewer
Location:
8 D3; 8 57.05 cM
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (110104447..110269274)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (109377815..109542642)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene WD repeat domain 70 pseudogene Neighboring gene predicted gene, 53452 Neighboring gene STARR-seq mESC enhancer starr_22651 Neighboring gene predicted gene, 35145 Neighboring gene STARR-seq mESC enhancer starr_22655 Neighboring gene predicted gene, 39246 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:112089480-112089589 Neighboring gene STARR-positive B cell enhancer ABC_E565 Neighboring gene DEAH-box helicase 38 Neighboring gene thioredoxin-like 4B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Biallelic mutations in PMFBP1 cause acephalic spermatozoa. Sha YW, et al. Clin Genet, 2019 Feb. PMID 30298696
  2. The missing linker between SUN5 and PMFBP1 in sperm head-tail coupling apparatus. Zhang Y, et al. Nat Commun, 2021 Aug 13. PMID 34389728, Free PMC Article
  3. Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. Zhu F, et al. Am J Hum Genet, 2018 Aug 2. PMID 30032984, Free PMC Article
  4. Characterization of a novel gene, sperm-tail-associated protein (Stap), in mouse post-meiotic testicular germ cells. Ohuchi J, et al. Mol Reprod Dev, 2001 Aug. PMID 11468771
  5. Molecular design of hypothalamus development. Romanov RA, et al. Nature, 2020 Jun. PMID 32499648, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of PMFBP1 Disturbs Mouse Spermatogenesis by Downregulating HDAC3 Expression.
    Title: Loss of PMFBP1 Disturbs Mouse Spermatogenesis by Downregulating HDAC3 Expression.
  2. The missing linker between SUN5 and PMFBP1 in sperm head-tail coupling apparatus.
    Title: The missing linker between SUN5 and PMFBP1 in sperm head-tail coupling apparatus.
  3. our data indicate that PMFBP1 is necessary for sperm morphology in both humans and mice, and that biallelic truncating mutations in PMFBP1 cause acephalic spermatozoa
    Title: Biallelic mutations in PMFBP1 cause acephalic spermatozoa.
  4. Mutations in PMFBP1 are an important cause of infertility in men with acephalic spermatozoa syndrome.
    Title: Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.
Submit: New GeneRIF Correction

Variation

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Alleles

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

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within spermatid development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatogenesis ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  
is_active_in sperm connecting piece IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm connecting piece IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm connecting piece ISO
Inferred from Sequence Orthology
more info
  
is_active_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in sperm head IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in sperm head-tail coupling apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in sperm head-tail coupling apparatus ISO
Inferred from Sequence Orthology
more info
 PubMed 

General protein information

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Preferred Names
polyamine-modulated factor 1-binding protein 1
Names
PMF-1-binding protein
sperm tail-associated protein

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_019938.3 → NP_064322.1  polyamine-modulated factor 1-binding protein 1

    See identical proteins and their annotated locations for NP_064322.1

    Status: VALIDATED

    Source sequence(s)
    AC123838, AC125162
    Consensus CDS
    CCDS40468.1
    UniProtKB/Swiss-Prot
    Q9WVQ0
    UniProtKB/TrEMBL
    B2RR67
    Related
    ENSMUSP00000034162.7, ENSMUST00000034162.8
    Conserved Domains (3) summary
    PRK02224
    Location:245 → 685
    PRK02224; DNA double-strand break repair Rad50 ATPase
    COG1196
    Location:476 → 834
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1269
    Location:740 → 965
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    110104447..110269274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036154196.1 → XP_036010089.1  polyamine-modulated factor 1-binding protein 1 isoform X3

    Conserved Domains (3) summary
    PRK02224
    Location:201 → 641
    PRK02224; DNA double-strand break repair Rad50 ATPase
    COG1196
    Location:432 → 790
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1269
    Location:696 → 921
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

  2. XM_011248452.1 → XP_011246754.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011246754.1

    Conserved Domains (3) summary
    PRK02224
    Location:275 → 715
    PRK02224; DNA double-strand break repair Rad50 ATPase
    COG1196
    Location:506 → 864
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1269
    Location:770 → 995
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

  3. XM_011248456.1 → XP_011246758.1  polyamine-modulated factor 1-binding protein 1 isoform X3

    Conserved Domains (3) summary
    PRK02224
    Location:201 → 641
    PRK02224; DNA double-strand break repair Rad50 ATPase
    COG1196
    Location:432 → 790
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1269
    Location:696 → 921
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

  4. XM_011248453.1 → XP_011246755.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011246755.1

    Conserved Domains (3) summary
    PRK02224
    Location:275 → 715
    PRK02224; DNA double-strand break repair Rad50 ATPase
    COG1196
    Location:506 → 864
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1269
    Location:770 → 995
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

  5. XM_030243693.1 → XP_030099553.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    Conserved Domains (3) summary
    PRK02224
    Location:275 → 715
    PRK02224; DNA double-strand break repair Rad50 ATPase
    COG1196
    Location:506 → 864
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1269
    Location:770 → 995
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

  6. XM_011248454.3 → XP_011246756.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011246756.1

    Conserved Domains (3) summary
    PRK02224
    Location:275 → 715
    PRK02224; DNA double-strand break repair Rad50 ATPase
    COG1196
    Location:506 → 864
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1269
    Location:770 → 995
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

  7. XM_006531213.4 → XP_006531276.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006531276.1

    Conserved Domains (3) summary
    PRK02224
    Location:275 → 715
    PRK02224; DNA double-strand break repair Rad50 ATPase
    COG1196
    Location:506 → 864
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1269
    Location:770 → 995
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

  8. XM_030243694.1 → XP_030099554.1  polyamine-modulated factor 1-binding protein 1 isoform X4

    Conserved Domains (3) summary
    PRK02224
    Location:171 → 611
    PRK02224; DNA double-strand break repair Rad50 ATPase
    COG1196
    Location:402 → 760
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1269
    Location:666 → 891
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

  9. XM_006531214.4 → XP_006531277.1  polyamine-modulated factor 1-binding protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006531277.1

    UniProtKB/Swiss-Prot
    Q9WVQ0
    UniProtKB/TrEMBL
    B2RR67
    Conserved Domains (3) summary
    PRK02224
    Location:245 → 685
    PRK02224; DNA double-strand break repair Rad50 ATPase
    COG1196
    Location:476 → 834
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1269
    Location:740 → 965
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9WVQ0.1 GenPept UniProtKB/Swiss-Prot:Q9WVQ0

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