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

    Gene ID: 56523, updated on 21-Apr-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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    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 
    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 

    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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