Seroatlas · Human Serome Atlas

HACE1

E3 ubiquitin-protein ligase HACE1

Also known as: HACE1_HUMAN, KIAA1320

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

Protein identityUniProt · HPA

UniProt accession: Q8IYU2
Gene: HACE1
Ensembl: ENSG00000085382
Chromosome: 6
Canonical length: 909 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nuclear bodies,Endoplasmic reticulum
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

909 residues, UniProt reviewed canonical sequence.

>Q8IYU2|HACE1
     1  MERAMEQLNR LTRSLRRART VELPEDNETA VYTLMPMVMA DQHRSVSELL SNSKFDVNYA
    61  FGRVKRSLLH IAANCGSVEC LVLLLKKGAN PNYQDISGCT PLHLAARNGQ KKCMSKLLEY
   121  SADVNICNNE GLTAIHWLAV NGRTELLHDL VQHVSDVDVE DAMGQTALHV ACQNGHKTTV
   181  QCLLDSGADI NRPNVSGATP LYFACSHGQR DTAQILLLRG AKYLPDKNGV TPLDLCVQGG
   241  YGETCEVLIQ YHPRLFQTII QMTQNEDLRE NMLRQVLEHL SQQSESQYLK ILTSLAEVAT
   301  TNGHKLLSLS SNYDAQMKSL LRIVRMFCHV FRIGPSSPSN GIDMGYNGNK TPRSQVFKPL
   361  ELLWHSLDEW LVLIATELMK NKRDSTEITS ILLKQKGQDQ DAASIPPFEP PGPGSYENLS
   421  TGTRESKPDA LAGRQEASAD CQDVISMTAN RLSAVIQAFY MCCSCQMPPG MTSPRFIEFV
   481  CKHDEVLKCF VNRNPKIIFD HFHFLLECPE LMSRFMHIIK AQPFKDRCEW FYEHLHSGQP
   541  DSDMVHRPVN ENDILLVHRD SIFRSSCEVV SKANCAKLKQ GIAVRFHGEE GMGQGVVREW
   601  FDILSNEIVN PDYALFTQSA DGTTFQPNSN SYVNPDHLNY FRFAGQILGL ALNHRQLVNI
   661  YFTRSFYKHI LGIPVNYQDV ASIDPEYAKN LQWILDNDIS DLGLELTFSV ETDVFGAMEE
   721  VPLKPGGGSI LVTQNNKAEY VQLVTELRMT RAIQPQINAF LQGFHMFIPP SLIQLFDEYE
   781  LELLLSGMPE IDVSDWIKNT EYTSGYERED PVIQWFWEVV EDITQEERVL LLQFVTGSSR
   841  VPHGGFANIM GGSGLQNFTI AAVPYTPNLL PTSSTCINML KLPEYPSKEI LKDRLLVALH
   901  CGSYGYTMA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HACE1 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: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 29 nTPM

Expression across tissuesHPA

Tissue

placenta: 29 nTPM
retina: 11 nTPM
testis: 9.7 nTPM
cerebral cortex: 7.1 nTPM
parathyroid gland: 6.7 nTPM
kidney: 5.8 nTPM

Single-cell type

rod photoreceptor cells: 161 nCPM
retinal horizontal cells: 144 nCPM
cone photoreceptor cells: 126 nCPM
brain inhibitory neurons: 97 nCPM
brain excitatory neurons: 94 nCPM
distal convoluted tubule cells: 85 nCPM

Immune cell

MAIT T-cell: 1.3 nTPM
gdT-cell: 1.2 nTPM
memory CD8 T-cell: 1.2 nTPM
naive CD4 T-cell: 1.2 nTPM
memory CD4 T-cell: 1.1 nTPM
intermediate monocyte: 1 nTPM

Brain region

white matter: 23 nTPM
cerebellum: 22 nTPM
cerebral cortex: 21 nTPM
basal ganglia: 20 nTPM
thalamus: 18 nTPM
midbrain: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HACE1.

Disease | AllUniProt

Conditions HACE1 is implicated in, by any mechanism.

Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) MIM:616756

Disease | GeneticClinVar

36 pathogenic / likely-pathogenic of 346 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spastic paraplegia-severe developmental delay-epilepsy syndrome
Seizure
Global developmental delay
Generalized hypotonia
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): 0.52
gnomAD pLI: 0
gnomAD missense Z: 3.59
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 HACE1 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 HACE1 as an antibody target. Whether an autoantibody or antibody against HACE1 could matter depends on whether native HACE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HACE1 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 HACE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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