Seroatlas · Human Serome Atlas

PYHIN1

Pyrin and HIN domain-containing protein 1

Also known as: IFIX, IFIX_HUMAN, MGC23885

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

Protein identityUniProt · HPA

UniProt accession: Q6K0P9
Gene: PYHIN1
Ensembl: ENSG00000163564
Chromosome: 1
Canonical length: 492 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli

OverviewNCBI Gene

The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

492 residues, UniProt reviewed canonical sequence.

>Q6K0P9|PYHIN1
     1  MANNYKKIVL LKGLEVINDY HFRIVKSLLS NDLKLNPKMK EEYDKIQIAD LMEEKFPGDA
    61  GLGKLIEFFK EIPTLGDLAE TLKREKLKVA NKIESIPVKG IIPSKKTKQK EVYPATPACT
   121  PSNRLTAKGA EETLGPQKRK KPSEEETGTK RSKMSKEQTR PSCSAGASTS TAMGRSPPPQ
   181  TSSSAPPNTS STESLKPLAN RHATASKNIF REDPIIAMVL NATKVFKYES SENEQRRMFH
   241  ATVATQTQFF HVKVLNINLK RKFIKKRIII ISNYSKRNSL LEVNEASSVS EAGPDQTFEV
   301  PKDIIRRAKK IPKINILHKQ TSGYIVYGLF MLHTKIVNRK TTIYEIQDKT GSMAVVGKGE
   361  CHNIPCEKGD KLRLFCFRLR KRENMSKLMS EMHSFIQIQK NTNQRSHDSR SMALPQEQSQ
   421  HPKPSEASTT LPESHLKTPQ MPPTTPSSSS FTKKDETHPG AQSSPANFRI TSPTVAPPLS
   481  SDTSTNRHPA VP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PYHIN1 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): 0.48
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

lymph node: 22 nTPM
spleen: 13 nTPM
tonsil: 12 nTPM
appendix: 7.9 nTPM
bone marrow: 5.1 nTPM
small intestine: 4.9 nTPM

Single-cell type

nk-cells: 495 nCPM
t-cells: 244 nCPM
b-cells: 37 nCPM
fibro-adipogenic progenitors: 20 nCPM
hofbauer cells: 9.6 nCPM
medullary thymic epithelial cells: 9.6 nCPM

Immune cell

gdT-cell: 97 nTPM
memory CD8 T-cell: 75 nTPM
T-reg: 67 nTPM
MAIT T-cell: 56 nTPM
naive CD8 T-cell: 45 nTPM
memory CD4 T-cell: 41 nTPM

Brain region

white matter: 4.1 nTPM
medulla oblongata: 3.5 nTPM
pons: 3.2 nTPM
thalamus: 3 nTPM
cerebral cortex: 2.9 nTPM
choroid plexus: 2.8 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): 1.24
gnomAD pLI: 0
gnomAD missense Z: -0.13
DepMap mean gene effect: 0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 PYHIN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

MDM2

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PYHIN1 as an antibody target. Whether an autoantibody or antibody against PYHIN1 could matter depends on whether native PYHIN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PYHIN1 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 PYHIN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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