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FLASH GENE
Symbol PMFBP1 contributors: mct - updated : 06-09-2018
HGNC name polyamine modulated factor 1 binding protein 1
HGNC id 17728
Corresponding disease
ACSPS Acephalic Spermatozoa Syndrome
Location 16q22.2      Physical location : 72.152.996 - 72.206.349
Synonym symbol(s) DKFZP434G131, STAP, F77
DNA
TYPE functioning gene
STRUCTURE 57.21 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned   linked   status
Physical map
MTR3 16q22.1 homolog of yeast mRNA transport regulator 3 AARS 16q22.1 alanyl-tRNA synthetase DDX19 16q22.1 DEAD (Asp-Glu-Ala-As) box polypeptide 19 FLJ11126 16q22.1 hypothetical protein FLJ11126 SIAT4B 16q22.3 sialyltransferase 4B (beta-galactoside alpha-2,3-sialyltransferase) FUK 16q22.1 fucokinase COG4 16q22.3 component of oligomeric golgi complex 4 SF3B3 16q22.1 splicing factor 3b, subunit 3, 130kDa MGC34647 16q22.1 hypothetical protein MGC34647 LOC92154 16q22.1 hypothetical protein BC002770 FLJ10305 16q22.1 hypothetical protein FLJ10305 HYDIN 16q22.2 hydrocephalus inducing LOC388287 16 similar to hydrocephalus-inducing protein FLJ14665 16q22.2 hypothetical protein FLJ14665 DKFZp434L0850 16q22.2 hypothetical protein DKFZp434L0850 FLJ11171 16q22.2 hypothetical protein FLJ11171 LOC388288 16 similar to hypothetical protein (L1H 3 region) - human CALB2 16q22.2 calbindin 2, 29kDa (calretinin) ZNF23 16q22.2 zinc finger protein 23 (KOX 16) LOC390738 16 similar to mKIAA1261 protein ZNF19 16q23.1 zinc finger protein 19 (KOX 12) CHST4 16q23.1 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 TAT 16q22.1 tyrosine aminotransferase LOC91862 16q22.2 similar to RIKEN cDNA 1810006A16 gene KIAA0931 16q23.1 similar to RIKEN cDNA 1810006A16 gene AP1G1 16q23 adaptor-related protein complex 1, gamma 1 subunit LOC342371 16q22.2 similar to Ataxin-1 (Spinocerebellar ataxia type 1 protein homolog) LOC55565 16q22.2 hypothetical protein LOC55565 KIAA0174 16q23.1 hypothetical protein LOC55565 PKD1L3 16q22.2 polycystic kidney disease 1-like 3 DHODH 16q22 dihydroorotate dehydrogenase HP 16q22.2 haptoglobin HPR 16q22.2 haptoglobin-related protein FLJ20511 16q22.2 hypothetical protein FLJ20511 DHX38 16q21-q22.3 DEAH (Asp-Glu-Ala-His) box polypeptide 38 PMFBP1 16q23.1 polyamine modulated factor 1 binding protein 1 LOC390739 16 similar to C-Myc binding protein (Associate of Myc 1) (AMY-1) LOC342374 16q22.3 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) ATBF1 16q22.3-q23.1 AT-binding transcription factor 1 LOC283902 16q22.3 hypothetical gene supported by BC019009 LOC388289 16 hypothetical gene supported by AK129695
RNA
TRANSCRIPTS type
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 3690 - 882 - 2001 11468771
21 - 3452 - 1007 - 2001 11468771
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis    Homo sapiens
 male systemmale genital tractepididymis   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
text
  • is localized at the sperm head-to-tail connecting piece to join the coupling apparatus to the sperm nuclear envelope
  • basic FUNCTION
  • sperm tail-associated protein
  • is essential for the attachment of the coupling apparatus to the sperm head
  • PMFBP1 and SUN5 might work in a similar way to maintain sperm head and tail integrity
  • PMFBP1 may work as a scaffold protein to connect the coupling apparatus and the sperm nuclear envelope
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cooperates with SUN5 and SPATA6 to connect sperm head to tail
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACSPS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in Pmfbp1 knockout mice, the disruption of Pmfbp1 led to male infertility due to the production of acephalic spermatozoa
  • Pmfbp1-/- male mice failed to produce offspring, while Pmfbp1-deficient female mice with normal follicle development were fertile