Seroatlas · Human Serome Atlas

PEF1

Peflin

Also known as: PEF1_HUMAN, PEF1A

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

Protein identityUniProt · HPA

UniProt accession: Q9UBV8
Gene: PEF1
Ensembl: ENSG00000162517
Chromosome: 1
Canonical length: 284 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

284 residues, UniProt reviewed canonical sequence.

>Q9UBV8|PEF1
     1  MASYPYRQGC PGAAGQAPGA PPGSYYPGPP NSGGQYGSGL PPGGGYGGPA PGGPYGPPAG
    61  GGPYGHPNPG MFPSGTPGGP YGGAAPGGPY GQPPPSSYGA QQPGLYGQGG APPNVDPEAY
   121  SWFQSVDSDH SGYISMKELK QALVNCNWSS FNDETCLMMI NMFDKTKSGR IDVYGFSALW
   181  KFIQQWKNLF QQYDRDRSGS ISYTELQQAL SQMGYNLSPQ FTQLLVSRYC PRSANPAMQL
   241  DRFIQVCTQL QVLTEAFREK DTAVQGNIRL SFEDFVTMTA SRML

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEF1 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): 0.46
Highest tissue expression: 105 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 105 nTPM
blood vessel: 91 nTPM
choroid plexus: 88 nTPM
skin: 82 nTPM
epididymis: 80 nTPM
kidney: 70 nTPM

Single-cell type

syncytiotrophoblasts: 209 nCPM
cytotrophoblasts: 186 nCPM
migrating cytotrophoblasts: 181 nCPM
esophageal apical cells: 149 nCPM
late spermatids: 140 nCPM
esophageal suprabasal cells: 126 nCPM

Immune cell

basophil: 148 nTPM
total PBMC: 105 nTPM
eosinophil: 93 nTPM
gdT-cell: 90 nTPM
NK-cell: 88 nTPM
MAIT T-cell: 87 nTPM

Brain region

pons: 67 nTPM
medulla oblongata: 61 nTPM
hypothalamus: 60 nTPM
white matter: 58 nTPM
spinal cord: 57 nTPM
cerebellum: 57 nTPM

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): 1.06
gnomAD pLI: 0
gnomAD missense Z: 0.28
DepMap mean gene effect: -0.33
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PEF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PEF1 as an antibody target. Whether an autoantibody or antibody against PEF1 could matter depends on whether native PEF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PEF1 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 PEF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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