PMFBP1 - polyamine modulated factor 1 binding protein 1 Gene

Homo sapiens

Also known as STAP; SPGF31

Gene ID: 83449 | Gene type: protein coding

About PMFBP1

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:72,116,657-72,249,949 (from NCBI)

This gene has 11 transcripts (splice variants), 120 orthologues and is associated with 2 phenotypes. Biased expression in testis (RPKM 6.6), small intestine (RPKM 0.5) and 2 other tissues.

Summary

Involved in spermatogenesis. Located in sperm connecting piece. Implicated in spermatogenic failure 31. [provided by Alliance of Genome Resources, Apr 2022]

PMFBP1 Products(2)

mRNA	Protein	Name
NM_001160213.2	NP_001153685.1	polyamine-modulated factor 1-binding protein 1 isoform b
NM_031293.3	NP_112583.2	polyamine-modulated factor 1-binding protein 1 isoform a

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in spermatogenesis	IMP IMP: Inferred from mutant phenotype	30032984	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in sperm head-tail coupling apparatus	IDA IDA: Inferred from direct assay	30032984	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

polyamine-modulated factor 1-binding protein 1

PMF-1 binding protein

Related Diseases

Diseases

Alias

Spermatogenic Failure 31

SPGF31

Male Infertility Due To Acephalic Spermatozoa

Acephalic Spermatozoa Syndrome

Spermatogenic Failure 16

SPGF16	Acephalic Spermatozoa Syndrome
Spermatozoa, Acephalic

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Hypocalcemia, Autosomal Dominant 2

Autosomal Dominant Hypocalcemia 2	HYPOC2
Hypocalcemia, Autosomal Dominant, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10763	PMFBP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PMFBP1	MGD	MGI:1930136
Canis familiaris	PMFBP1	VGNC	VGNC:44732
Rattus norvegicus	PMFBP1	RGD	RGD:621677
Felis catus	PMFBP1	VGNC	VGNC:64256
Bos taurus	PMFBP1	VGNC	VGNC:33071
Macaca mulatta	PMFBP1	VGNC	VGNC:76052

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