Seroatlas · Human Serome Atlas

HEPHL1

Ferroxidase HEPHL1

Also known as: DKFZp686F22190, HPHL1_HUMAN, Zp

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

Protein identityUniProt · HPA

UniProt accession: Q6MZM0
Gene: HEPHL1
Ensembl: ENSG00000181333
Chromosome: 11
Canonical length: 1159 aa
Protein class: Disease related genes, Enzymes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Enables ferroxidase activity. Involved in intracellular iron ion homeostasis. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1159 residues, UniProt reviewed canonical sequence.

>Q6MZM0|HEPHL1
     1  MPRKQPAGCI FLLTFLGLSG LVGTVTRTYY IGIVEEYWNY VPQGKNVITG KSFTEDKLAT
    61  LFLERGPNRI GSIYKKAVYR RFTDGTYSIE IPKPPWLGFL GPILRAEVGD VIVIHLKNFA
   121  SRPYSLHPHG VFYNKDSEGA LYPDGTSGRN KNDDMVPPGK NYTYVWPVRE EYAPTPADAN
   181  CLTWVYHSHI DAPKDICSGL IGPLLVCKEG ILNRYSGTRN DVDREFVIMF TLVDENQSWY
   241  LNENIKHFCT NPDSVDKKDA VFQRSNKMHA LNGYLFGNFP EPDMCVGESV SWHLFGMGNE
   301  IDIHSIYFYG NTFISRGHRT DVVNLFPATF LTTEMIAENP GKWMITCQVS DHLQAGMLGQ
   361  YNVDNCKSDI FYPKMKGQQR RYFIAAEKIL WDYAPQGYNK FSGLPLNASG SDSDLYFTQG
   421  DNRIGGKYWK VRYTEFVDAT FTKRKRLSAE EAHLGILGPV IKAEVGDTLL VTFANKADKV
   481  YSILPHGVIY DKASDAAPNL DGFVKPGAHV KPGETFTYKW TVPESVSPTA GDPPCLTYLY
   541  FSAVDPIKDT SSGLVGPLLV CKKGVLNADG TQKGIDKEFY LLFTVFDENL SRYFDENIQK
   601  FIWHPFSIDK EDKEFVKSNR MHAVNGYMYG NQPGLNMCKR DRVSWHLIGL GTDTDMHGIV
   661  FQGNTIHLRG THRDSLALFP HMATTAFMQP DHAGIFRVFC ATMPHLSRGM GQIYEVSSCD
   721  NRDPSEQRYG MIRTFYIAAE EVEWDYAPNK NWEFEKQHVD ARGERHGDIF MNRTENWIGS
   781  QYKKVVYREY TDGEFVEIKA RPPREEHLEL LGPMIHAEVG NTVLIIFKNK ASRPYSISAQ
   841  GVEEMDSGKQ FQVPMTKPGE VKTYRWNIPK RSGPGPSDPN CIPWVYYSTV NFVKDTYSGL
   901  MGPLITCRKG VLNEKGRRSD VDYEFALLFL VFNENESWYL DDNIKKYLNK DPRDFKRTDD
   961  FEESNRMHAI NGKIFGNLHG LIMNEDTMTN WYLLGIGSEV DIHTIHYHAE SFLFKIDKSY
  1021  REDVYDLFPG TFQTIELFAD HPGTWLLHCH VSDHIHAGME TTYTVLRNID NRIPYSTTSP
  1081  GVASHPATVP SNERPGKEQL YFFGKNLGPT GAKAALVILF IIGLLLLITT VILSLRLCSA
  1141  MKQTDYQQVQ SCALPTDAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HEPHL1 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: 9.3 nTPM

Expression across tissuesHPA

Tissue

cervix: 9.3 nTPM
tonsil: 8.9 nTPM
esophagus: 4.2 nTPM
vagina: 4.2 nTPM
skin: 3.2 nTPM
salivary gland: 0.4 nTPM

Single-cell type

esophageal apical cells: 162 nCPM
suprabasal keratinocytes: 79 nCPM
epicardial cells: 46 nCPM
basal keratinocytes: 38 nCPM
tuft cells: 23 nCPM
esophageal suprabasal cells: 17 nCPM

Immune cell

naive B-cell: 0.1 nTPM
NK-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

cerebellum: 0.3 nTPM
choroid plexus: 0.2 nTPM
hypothalamus: 0.2 nTPM
basal ganglia: 0.1 nTPM
cerebral cortex: 0.1 nTPM
medulla oblongata: 0.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HEPHL1.

Disease | AllUniProt

Conditions HEPHL1 is implicated in, by any mechanism.

Abnormal hair, joint laxity, and developmental delay (HJDD) MIM:261990

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 236 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Pili torti-developmental delay-neurological abnormalities syndrome

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): 1.18
gnomAD pLI: 0
gnomAD missense Z: 0.18
DepMap mean gene effect: -0.01
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

plasma membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HEPHL1 as an antibody target. Whether an autoantibody or antibody against HEPHL1 could matter depends on whether native HEPHL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HEPHL1 is annotated at the cell surface, where native HEPHL1 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 HEPHL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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