Seroatlas · Human Serome Atlas

PMFBP1

Polyamine-modulated factor 1-binding protein 1

Also known as: PMFBP_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8TBY8
Gene: PMFBP1
Ensembl: ENSG00000118557
Chromosome: 16
Canonical length: 1007 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cell Junctions,Acrosome,Connecting piece,Flagellar centriole,Mid piece,Principal piece

OverviewNCBI Gene

Involved in spermatogenesis. Located in sperm head-tail coupling apparatus. Implicated in spermatogenic failure 31. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1007 residues, UniProt reviewed canonical sequence.

>Q8TBY8|PMFBP1
     1  MKDEAGERDR EVSSLNSKLL SLQLDIKNLH DVCKRQRKTL QDNQLCMEEA MNSSHDKKQA
    61  QALAFEESEV EFGSSKQCHL RQLQQLKKKL LVLQQELEFH TEELQTSYYS LRQYQSILEK
   121  QTSDLVLLHH HCKLKEDEVI LYEEEMGNHN ENTGEKLHLA QEQLALAGDK IASLERSLNL
   181  YRDKYQSSLS NIELLECQVK MLQGELGGIM GQEPENKGDH SKVRIYTSPC MIQEHQETQK
   241  RLSEVWQKVS QQDDLIQELR NKLACSNALV LEREKALIKL QADFASCTAT HRYPPSSSEE
   301  CEDIKKILKH LQEQKDSQCL HVEEYQNLVK DLRVELEAVS EQKRNIMKDM MKLELDLHGL
   361  REETSAHIER KDKDITILQC RLQELQLEFT ETQKLTLKKD KFLQEKDEML QELEKKLTQV
   421  QNSLLKKEKE LEKQQCMATE LEMTVKEAKQ DKSKEAECKA LQAEVQKLKN SLEEAKQQER
   481  LAAQQAAQCK EEAALAGCHL EDTQRKLQKG LLLDKQKADT IQELQRELQM LQKESSMAEK
   541  EQTSNRKRVE ELSLELSEAL RKLENSDKEK RQLQKTVAEQ DMKMNDMLDR IKHQHREQGS
   601  IKCKLEEDLQ EATKLLEDKR EQLKKSKEHE KLMEGELEAL RQEFKKKDKT LKENSRKLEE
   661  ENENLRAELQ CCSTQLESSL NKYNTSQQVI QDLNKEIALQ KESLMSLQAQ LDKALQKEKH
   721  YLQTTITKEA YDALSRKSAA CQDDLTQALE KLNHVTSETK SLQQSLTQTQ EKKAQLEEEI
   781  IAYEERMKKL NTELRKLRGF HQESELEVHA FDKKLEEMSC QVLQWQKQHQ NDLKMLAAKE
   841  EQLREFQEEM AALKENLLED DKEPCCLPQW SVPKDTCRLY RGNDQIMTNL EQWAKQQKVA
   901  NEKLGNQLRE QVKYIAKLSG EKDHLHSVMV HLQQENKKLK KEIEEKKMKA ENTRLCTKAL
   961  GPSRTESTQR EKVCGTLGWK GLPQDMGQRM DLTKYIGMPH CPGSSYC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PMFBP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.52
Highest tissue expression: 20 nTPM

Expression across tissuesHPA

Tissue

testis: 20 nTPM
epididymis: 13 nTPM
pancreas: 6.5 nTPM
spleen: 4.7 nTPM
bone marrow: 4.2 nTPM
skin: 4.2 nTPM

Single-cell type

late spermatids: 465 nCPM
retinal horizontal cells: 224 nCPM
early spermatids: 152 nCPM
late primary spermatocytes: 83 nCPM
paneth cells: 54 nCPM
retinal amacrine cells: 54 nCPM

Immune cell

non-classical monocyte: 0.4 nTPM
plasmacytoid DC: 0.4 nTPM
classical monocyte: 0.3 nTPM
myeloid DC: 0.3 nTPM
eosinophil: 0.2 nTPM
intermediate monocyte: 0.1 nTPM

Brain region

pons: 30 nTPM
medulla oblongata: 8.7 nTPM
midbrain: 7.1 nTPM
cerebellum: 6.9 nTPM
spinal cord: 5.7 nTPM
hypothalamus: 5.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PMFBP1.

Disease | AllUniProt

Conditions PMFBP1 is implicated in, by any mechanism.

Spermatogenic failure 31 (SPGF31) MIM:618112

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 196 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 31
Oligospermia
Abnormal sperm morphology

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.11
gnomAD pLI: 0
gnomAD missense Z: -0.47
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Polyamine-modulated factor 1-binding protein 1

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PMFBP1 as an antibody target. Whether an autoantibody or antibody against PMFBP1 could matter depends on whether native PMFBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PMFBP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PMFBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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