Seroatlas · Human Serome Atlas

HHAT

Protein-cysteine N-palmitoyltransferase HHAT

Also known as: FLJ10724, GUP2, HHAT_HUMAN, MART-2, MART2, rasp, sit, ski, Skn

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

Protein identityUniProt · HPA

UniProt accession
Q5VTY9
Gene
HHAT
Ensembl
ENSG00000054392
Chromosome
1
Canonical length
493 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Golgi apparatus

OverviewNCBI Gene

'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]

Canonical amino-acid sequenceUniProt

493 residues, UniProt reviewed canonical sequence.

>Q5VTY9|HHAT
     1  MLPRWELALY LLASLGFHFY SFYEVYKVSR EHEEELDQEF ELETDTLFGG LKKDATDFEW
    61  SFWMEWGKQW LVWLLLGHMV VSQMATLLAR KHRPWILMLY GMWACWCVLG TPGVAMVLLH
   121  TTISFCVAQF RSQLLTWLCS LLLLSTLRLQ GVEEVKRRWY KTENEYYLLQ FTLTVRCLYY
   181  TSFSLELCWQ QLPAASTSYS FPWMLAYVFY YPVLHNGPIL SFSEFIKQMQ QQEHDSLKAS
   241  LCVLALGLGR LLCWWWLAEL MAHLMYMHAI YSSIPLLETV SCWTLGGLAL AQVLFFYVKY
   301  LVLFGVPALL MRLDGLTPPA LPRCVSTMFS FTGMWRYFDV GLHNFLIRYV YIPVGGSQHG
   361  LLGTLFSTAM TFAFVSYWHG GYDYLWCWAA LNWLGVTVEN GVRRLVETPC IQDSLARYFS
   421  PQARRRFHAA LASCSTSMLI LSNLVFLGGN EVGKTYWNRI FIQGWPWVTL SVLGFLYCYS
   481  HVGIAWAQTY ATD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HHAT 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
10
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
6.1 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 6.1 nTPM
  • choroid plexus: 5.5 nTPM
  • thyroid gland: 4.4 nTPM
  • salivary gland: 4.3 nTPM
  • prostate: 3.9 nTPM
  • kidney: 3.5 nTPM

Single-cell type

  • ependymal cells: 162 nCPM
  • choroid plexus epithelial cells: 146 nCPM
  • distal convoluted tubule cells: 100 nCPM
  • renal connecting tubule cells: 69 nCPM
  • papillary tip epithelial cells: 57 nCPM
  • renal collecting duct principal cells: 53 nCPM

Immune cell

  • plasmacytoid DC: 3.7 nTPM
  • naive B-cell: 1.8 nTPM
  • memory B-cell: 1.5 nTPM
  • MAIT T-cell: 1.3 nTPM
  • memory CD4 T-cell: 0.9 nTPM
  • memory CD8 T-cell: 0.8 nTPM

Brain region

  • choroid plexus: 8.6 nTPM
  • cerebral cortex: 4.2 nTPM
  • amygdala: 3.1 nTPM
  • spinal cord: 2.9 nTPM
  • white matter: 2.9 nTPM
  • midbrain: 2.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HHAT.

Disease | AllUniProt

Conditions HHAT is implicated in, by any mechanism.

  • Nivelon-Nivelon-Mabille syndrome (NNMS) MIM:600092

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 186 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on HHAT was assayed in.

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)
0.84
gnomAD pLI
0
gnomAD missense Z
0.05
DepMap mean gene effect
0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 HHAT as an antibody target. Whether an autoantibody or antibody against HHAT could matter depends on whether native HHAT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

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