Seroatlas · Human Serome Atlas

PHF1

PHD finger protein 1

Also known as: MTF2L2, PCL1, PHF1_HUMAN, TDRD19C

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

Protein identityUniProt · HPA

UniProt accession
O43189
Gene
PHF1
Ensembl
ENSG00000112511
Chromosome
6
Canonical length
567 aa
Protein class
Disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

Canonical amino-acid sequenceUniProt

567 residues, UniProt reviewed canonical sequence.

>O43189|PHF1
     1  MAQPPRLSRS GASSLWDPAS PAPTSGPRPR LWEGQDVLAR WTDGLLYLGT IKKVDSAREV
    61  CLVQFEDDSQ FLVLWKDISP AALPGEELLC CVCRSETVVP GNRLVSCEKC RHAYHQDCHV
   121  PRAPAPGEGE GTSWVCRQCV FAIATKRGGA LKKGPYARAM LGMKLSLPYG LKGLDWDAGH
   181  LSNRQQSYCY CGGPGEWNLK MLQCRSCLQW FHEACTQCLS KPLLYGDRFY EFECCVCRGG
   241  PEKVRRLQLR WVDVAHLVLY HLSVCCKKKY FDFDREILPF TSENWDSLLL GELSDTPKGE
   301  RSSRLLSALN SHKDRFISGR EIKKRKCLFG LHARMPPPVE PPTGDGALTS FPSGQGPGGG
   361  VSRPLGKRRR PEPEPLRRRQ KGKVEELGPP SAVRNQPEPQ EQRERAHLQR ALQASVSPPS
   421  PSPNQSYQGS SGYNFRPTDA RCLPSSPIRM FASFHPSAST AGTSGDSGPP DRSPLELHIG
   481  FPTDIPKSAP HSMTASSSSV SSPSPGLPRR SAPPSPLCRS LSPGTGGGVR GGVGYLSRGD
   541  PVRVLARRVR PDGSVQYLVE WGGGGIF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHF1 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)
0.44
Highest tissue expression
92 nTPM

Expression across tissuesHPA

Tissue

  • ovary: 92 nTPM
  • pituitary gland: 77 nTPM
  • blood vessel: 74 nTPM
  • testis: 74 nTPM
  • cervix: 65 nTPM
  • thyroid gland: 61 nTPM

Single-cell type

  • late spermatids: 115 nCPM
  • other brain neurons: 34 nCPM
  • bergmann glia: 32 nCPM
  • oligodendrocyte progenitor cells: 31 nCPM
  • astrocytes: 30 nCPM
  • brain inhibitory neurons: 30 nCPM

Immune cell

  • MAIT T-cell: 2.1 nTPM
  • memory CD8 T-cell: 1.9 nTPM
  • memory CD4 T-cell: 1.6 nTPM
  • naive CD4 T-cell: 1.6 nTPM
  • neutrophil: 1.5 nTPM
  • eosinophil: 1 nTPM

Brain region

  • cerebral cortex: 2.2 nTPM
  • white matter: 1.9 nTPM
  • medulla oblongata: 1.8 nTPM
  • choroid plexus: 1.4 nTPM
  • amygdala: 1.2 nTPM
  • hippocampal formation: 1.2 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)
0.2
gnomAD pLI
1
gnomAD missense Z
1.8
DepMap mean gene effect
-0.13
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 PHF1 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 PHF1 as an antibody target. Whether an autoantibody or antibody against PHF1 could matter depends on whether native PHF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PHF1 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 PHF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PHF1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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