Seroatlas · Human Serome Atlas

PHC1

Polyhomeotic-like protein 1

Also known as: EDR1, HPH1, PHC1_HUMAN, RAE28

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

Protein identityUniProt · HPA

UniProt accession: P78364
Gene: PHC1
Ensembl: ENSG00000111752
Chromosome: 12
Canonical length: 1004 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Mid piece
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1004 residues, UniProt reviewed canonical sequence.

>P78364|PHC1
     1  METESEQNSN STNGSSSSGG SSRPQIAQMS LYERQAVQAL QALQRQPNAA QYFHQFMLQQ
    61  QLSNAQLHSL AAVQQATIAA SRQASSPNTS TTQQQTTTTQ ASINLATTSA AQLISRSQSV
   121  SSPSATTLTQ SVLLGNTTSP PLNQSQAQMY LRPQLGNLLQ VNRTLGRNVP LASQLILMPN
   181  GAVAAVQQEV PSAQSPGVHA DADQVQNLAV RNQQASAQGP QMQGSTQKAI PPGASPVSSL
   241  SQASSQALAV AQASSGATNQ SLNLSQAGGG SGNSIPGSMG PGGGGQAHGG LGQLPSSGMG
   301  GGSCPRKGTG VVQPLPAAQT VTVSQGSQTE AESAAAKKAE ADGSGQQNVG MNLTRTATPA
   361  PSQTLISSAT YTQIQPHSLI QQQQQIHLQQ KQVVIQQQIA IHHQQQFQHR QSQLLHTATH
   421  LQLAQQQQQQ QQQQQQQQQP QATTLTAPQP PQVPPTQQVP PSQSQQQAQT LVVQPMLQSS
   481  PLSLPPDAAP KPPIPIQSKP PVAPIKPPQL GAAKMSAAQQ PPPHIPVQVV GTRQPGTAQA
   541  QALGLAQLAA AVPTSRGMPG TVQSGQAHLA SSPPSSQAPG ALQECPPTLA PGMTLAPVQG
   601  TAHVVKGGAT TSSPVVAQVP AAFYMQSVHL PGKPQTLAVK RKADSEEERD DVSTLGSMLP
   661  AKASPVAESP KVMDEKSSLG EKAESVANVN ANTPSSELVA LTPAPSVPPP TLAMVSRQMG
   721  DSKPPQAIVK PQILTHIIEG FVIQEGAEPF PVGCSQLLKE SEKPLQTGLP TGLTENQSGG
   781  PLGVDSPSAE LDKKANLLKC EYCGKYAPAE QFRGSKRFCS MTCAKRYNVS CSHQFRLKRK
   841  KMKEFQEANY ARVRRRGPRR SSSDIARAKI QGKCHRGQED SSRGSDNSSY DEALSPTSPG
   901  PLSVRAGHGE RDLGNPNTAP PTPELHGINP VFLSSNPSRW SVEEVYEFIA SLQGCQEIAE
   961  EFRSQEIDGQ ALLLLKEEHL MSAMNIKLGP ALKICAKINV LKET

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHC1 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): 0.65
Highest tissue expression: 60 nTPM

Expression across tissuesHPA

Tissue

pituitary gland: 60 nTPM
cerebellum: 52 nTPM
retina: 37 nTPM
ovary: 36 nTPM
cervix: 36 nTPM
testis: 36 nTPM

Single-cell type

lactotrophs: 48 nCPM
thyrotrophs: 45 nCPM
somatotrophs: 39 nCPM
pituitary stem cells: 37 nCPM
brain inhibitory neurons: 37 nCPM
astrocytes: 37 nCPM

Immune cell

non-classical monocyte: 2.8 nTPM
memory CD8 T-cell: 1.5 nTPM
memory CD4 T-cell: 1.2 nTPM
naive CD4 T-cell: 1.2 nTPM
plasmacytoid DC: 1.2 nTPM
intermediate monocyte: 1.1 nTPM

Brain region

choroid plexus: 51 nTPM
cerebellum: 39 nTPM
midbrain: 33 nTPM
amygdala: 32 nTPM
hippocampal formation: 30 nTPM
hypothalamus: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PHC1.

Disease | AllUniProt

Conditions PHC1 is implicated in, by any mechanism.

Microcephaly 11, primary, autosomal recessive (MCPH11) MIM:615414

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 199 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Microcephaly 11, primary, autosomal recessive
Primary microcephaly
Intellectual disability

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): 0.24
gnomAD pLI: 1
gnomAD missense Z: 1.92
DepMap mean gene effect: -0.12
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 PHC1 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 PHC1 as an antibody target. Whether an autoantibody or antibody against PHC1 could matter depends on whether native PHC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PHC1 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 PHC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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