PMFBP1
entrez
83449
canonical
uniprot
Q8TBY8
canonical
ensembl
ENSG00000118557
resolver
ensp
ENSP00000237353
resolver
ensp
ENSP00000347854
resolver
genesymbol
PMFBP1
resolver
hgnc
HGNC:17728
resolver
uniprot
B3KVI9
resolver
uniprot
G3V1Q7
resolver
uniprot
H7BY07
resolver
uniprot
Q8NA09
resolver
uniprot
Q9BY16
resolver
uniprot
Q9H0H4
resolver
uniprot_entry
PMFBP_HUMAN
resolver
uniprot_sec
B3KVI9
resolver
uniprot_sec
G3V1Q7
resolver
uniprot_sec
H7BY07
resolver
uniprot_sec
Q8NA09
resolver
uniprot_sec
Q9BY16
resolver
uniprot_sec
Q9H0H4
resolver
amino_acid_sequence
MKDEAGERDREVSSLNSKLLSLQLDIKNLHDVCKRQRKTLQDNQLCMEEAMNSSHDKKQAQALAFEESEVEFGSSKQCHLRQLQQLKKKLLVLQQELEFHTEELQTSYYSLRQYQSILEKQTSDLVLLHHHCKLKEDEVILYEEEMGNHNENTGEKLHLAQEQLALAGDKIASLERSLNLYRDKYQSSLSNIELLECQVKMLQGELGGIMGQEPENKGDHSKVRIYTSPCMIQEHQETQKRLSEVWQKVSQQDDLIQELRNKLACSNALVLEREKALIKLQADFASCTATHRYPPSSSEECEDIKKILKHLQEQKDSQCLHVEEYQNLVKDLRVELEAVSEQKRNIMKDMMKLELDLHGLREETSAHIERKDKDITILQCRLQELQLEFTETQKLTLKKDKFLQEKDEMLQELEKKLTQVQNSLLKKEKELEKQQCMATELEMTVKEAKQDKSKEAECKALQAEVQKLKNSLEEAKQQERLAAQQAAQCKEEAALAGCHLEDTQRKLQKGLLLDKQKADTIQELQRELQMLQKESSMAEKEQTSNRKRVEELSLELSEALRKLENSDKEKRQLQKTVAEQDMKMNDMLDRIKHQHREQGSIKCKLEEDLQEATKLLEDKREQLKKSKEHEKLMEGELEALRQEFKKKDKTLKENSRKLEEENENLRAELQCCSTQLESSLNKYNTSQQVIQDLNKEIALQKESLMSLQAQLDKALQKEKHYLQTTITKEAYDALSRKSAACQDDLTQALEKLNHVTSETKSLQQSLTQTQEKKAQLEEEIIAYEERMKKLNTELRKLRGFHQESELEVHAFDKKLEEMSCQVLQWQKQHQNDLKMLAAKEEQLREFQEEMAALKENLLEDDKEPCCLPQWSVPKDTCRLYRGNDQIMTNLEQWAKQQKVANEKLGNQLREQVKYIAKLSGEKDHLHSVMVHLQQENKKLKKEIEEKKMKAENTRLCTKALGPSRTESTQREKVCGTLGWKGLPQDMGQRMDLTKYIGMPHCPGSSYC
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 31 (SPGF31) [MIM:618112]: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligozoospermia with a high proportion of acephalic sperm. {ECO:0000269|PubMed:30032984, ECO:0000269|PubMed:30298696}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for normal spermatogenesis (PubMed:1770140, PubMed:30032984, PubMed:30298696). It functions as a scaffold protein that attaches the sperm head-tail connecting piece to the nuclear envelope, thus maintaining sperm head and tail integrity (PubMed:30032984). May also be involved in the general organization of cellular cytoskeleton (By similarity). {ECO:0000250|UniProtKB:Q9WVQ0, ECO:0000269|PubMed:1770140, ECO:0000269|PubMed:30032984, ECO:0000269|PubMed:30298696}.
uniprot
proteins
mass_dalton
117494
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
1770140
uniprot
proteins
pubmed
30032984
uniprot
proteins
pubmed
30298696
uniprot
proteins
sequence_length
1007
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000269|PubMed:30032984, ECO:0000269|PubMed:30298696}. Note=Localized at the sperm head-tail connecting piece (PubMed:30032984, PubMed:30298696). During spermatogenesis, it is first observed in the cytoplasm of round spermatids, it later appears in the implantation fossa region of the sperm nucleus during sperm head elongation and differentiation, and finally it localizes to the head-tail connecting piece (By similarity). {ECO:0000250|UniProtKB:Q9WVQ0, ECO:0000269|PubMed:30032984, ECO:0000269|PubMed:30298696}.
uniprot
proteins