Seroatlas · Human Serome Atlas

HEPH

Hephaestin

Also known as: CPL, HEPH_HUMAN, KIAA0698

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

Protein identityUniProt · HPA

UniProt accession
Q9BQS7
Gene
HEPH
Ensembl
ENSG00000089472
Chromosome
X
Canonical length
1158 aa
Protein class
Metabolic proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

1158 residues, UniProt reviewed canonical sequence.

>Q9BQS7|HEPH
     1  MESGHLLWAL LFMQSLWPQL TDGATRVYYL GIRDVQWNYA PKGRNVITNQ PLDSDIVASS
    61  FLKSDKNRIG GTYKKTIYKE YKDDSYTDEV AQPAWLGFLG PVLQAEVGDV ILIHLKNFAT
   121  RPYTIHPHGV FYEKDSEGSL YPDGSSGPLK ADDSVPPGGS HIYNWTIPEG HAPTDADPAC
   181  LTWIYHSHVD APRDIATGLI GPLITCKRGA LDGNSPPQRQ DVDHDFFLLF SVVDENLSWH
   241  LNENIATYCS DPASVDKEDE TFQESNRMHA INGFVFGNLP ELNMCAQKRV AWHLFGMGNE
   301  IDVHTAFFHG QMLTTRGHHT DVANIFPATF VTAEMVPWEP GTWLISCQVN SHFRDGMQAL
   361  YKVKSCSMAP PVDLLTGKVR QYFIEAHEIQ WDYGPMGHDG STGKNLREPG SISDKFFQKS
   421  SSRIGGTYWK VRYEAFQDET FQEKMHLEED RHLGILGPVI RAEVGDTIQV VFYNRASQPF
   481  SMQPHGVFYE KDYEGTVYND GSSYPGLVAK PFEKVTYRWT VPPHAGPTAQ DPACLTWMYF
   541  SAADPIRDTN SGLVGPLLVC RAGALGADGK QKGVDKEFFL LFTVLDENKS WYSNANQAAA
   601  MLDFRLLSED IEGFQDSNRM HAINGFLFSN LPRLDMCKGD TVAWHLLGLG TETDVHGVMF
   661  QGNTVQLQGM RKGAAMLFPH TFVMAIMQPD NLGTFEIYCQ AGSHREAGMR AIYNVSQCPG
   721  HQATPRQRYQ AARIYYIMAE EVEWDYCPDR SWEREWHNQS EKDSYGYIFL SNKDGLLGSR
   781  YKKAVFREYT DGTFRIPRPR TGPEEHLGIL GPLIKGEVGD ILTVVFKNNA SRPYSVHAHG
   841  VLESTTVWPL AAEPGEVVTY QWNIPERSGP GPNDSACVSW IYYSAVDPIK DMYSGLVGPL
   901  AICQKGILEP HGGRSDMDRE FALLFLIFDE NKSWYLEENV ATHGSQDPGS INLQDETFLE
   961  SNKMHAINGK LYANLRGLTM YQGERVAWYM LAMGQDVDLH TIHFHAESFL YRNGENYRAD
  1021  VVDLFPGTFE VVEMVASNPG TWLMHCHVTD HVHAGMETLF TVFSRTEHLS PLTVITKETE
  1081  KAVPPRDIEE GNVKMLGMQI PIKNVEMLAS VLVAISVTLL LVVLALGGVV WYQHRQRKLR
  1141  RNRRSILDDS FKLLSFKQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HEPH 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
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.23
Highest tissue expression
55 nTPM

Expression across tissuesHPA

Tissue

  • colon: 55 nTPM
  • smooth muscle: 51 nTPM
  • rectum: 51 nTPM
  • small intestine: 48 nTPM
  • duodenum: 45 nTPM
  • blood vessel: 35 nTPM

Single-cell type

  • colonocytes: 323 nCPM
  • enterocytes: 297 nCPM
  • goblet cells: 234 nCPM
  • enteric transient amplifying cells: 146 nCPM
  • tuft cells: 138 nCPM
  • astrocytes: 106 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • midbrain: 12 nTPM
  • thalamus: 12 nTPM
  • basal ganglia: 8.6 nTPM
  • cerebellum: 8.3 nTPM
  • hypothalamus: 8.3 nTPM
  • medulla oblongata: 8.1 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)
0.56
gnomAD pLI
0
gnomAD missense Z
-0.71
DepMap mean gene effect
0.09
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

Antibody and autoantibody relevanceSeroatlas analysis

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

HEPH is annotated at the cell surface, where native HEPH is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

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

Canonical record: https://seroatlas.com/gene/HEPH. 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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