PMFBP1 - polyamine modulated factor 1 binding protein 1 Gene

Also Known as STAP; SPGF31

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83449

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 Références Source
involved in spermatogenesis IMP
IMP: Inferred from mutant phenotype
30032984 GOA
Cellular Component GO Annotation Evidence Références 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS10763 PMFBP1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others PMFBP1 NCBI