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

Summary

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. Acts upstream of or within several processes, including protein-containing complex assembly; regulation of protein localization; and spermatid development. Located in cytoplasm and sperm head-tail coupling apparatus. Is active in sperm flagellum and sperm head. 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, Nov 2024]
Expression: Restricted expression toward testis adult (RPKM 27.4) See more
Orthologs: human all
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Genomic context

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Loss of PMFBP1 Disturbs Mouse Spermatogenesis by Downregulating HDAC3 Expression.
Title: Loss of PMFBP1 Disturbs Mouse Spermatogenesis by Downregulating HDAC3 Expression.
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.
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.
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)

Endonuclease-mediated (4) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein localization	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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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	IBA Inferred from Biological aspect of Ancestor more info
is_active_in sperm head-tail coupling apparatus	IDA Inferred from Direct Assay more info	PubMed
located_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
located_in sperm head-tail coupling apparatus	ISO Inferred from Sequence Orthology more info

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)

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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

110104447..110269274

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
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]
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]
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]
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]
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]
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]
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]