• Gene id: 55733

Gene Summary

• Gene Symbol: HHAT   Gene   UCSC   Ensembl
• Aliases: MART2, SKI1, Skn
• Gene name: hedgehog acyltransferase
• Alternate names: protein-cysteine N-palmitoyltransferase HHAT, melanoma antigen recognized by T-cells 2, skinny hedgehog protein 1,
• Gene location: 1q32.2 (210327872: 210676297)     Exons: 29     NC_000001.11
• Gene summary(Entrez): '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]
• OMIM: 605743

Protein Summary

• Protein general information: Q5VTY9  
  • Name: Protein cysteine N palmitoyltransferase HHAT (EC 2.3.1. ) (Hedgehog acyltransferase) (Melanoma antigen recognized by T cells 2) (MART 2) (Skinny hedgehog protein 1)
  • Length: 493  
  • Mass: 57313
  • Tissue specificity: Ubiquitously expressed in normal tissues and cancer cell lines. {ECO
• Sequence:

  MLPRWELALYLLASLGFHFYSFYEVYKVSREHEEELDQEFELETDTLFGGLKKDATDFEWSFWMEWGKQWLVWLL
  LGHMVVSQMATLLARKHRPWILMLYGMWACWCVLGTPGVAMVLLHTTISFCVAQFRSQLLTWLCSLLLLSTLRLQ
  GVEEVKRRWYKTENEYYLLQFTLTVRCLYYTSFSLELCWQQLPAASTSYSFPWMLAYVFYYPVLHNGPILSFSEF
  IKQMQQQEHDSLKASLCVLALGLGRLLCWWWLAELMAHLMYMHAIYSSIPLLETVSCWTLGGLALAQVLFFYVKY
  LVLFGVPALLMRLDGLTPPALPRCVSTMFSFTGMWRYFDVGLHNFLIRYVYIPVGGSQHGLLGTLFSTAMTFAFV
  SYWHGGYDYLWCWAALNWLGVTVENGVRRLVETPCIQDSLARYFSPQARRRFHAALASCSTSMLILSNLVFLGGN
  EVGKTYWNRIFIQGWPWVTLSVLGFLYCYSHVGIAWAQTYATD

• Structural information:
  • Interpro: IPR032981  IPR004299  
  • STRING: ENSP00000438468
• Other Databases: GeneCards:  HHAT  Malacards:  HHAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016746	transferase activity, transferring acyl groups	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0018345	protein palmitoylation	IBA	biological process
GO:0016409	palmitoyltransferase activity	IBA	molecular function
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0016409	palmitoyltransferase activity	IEA	molecular function
GO:0018345	protein palmitoylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0008374	O-acyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0018345	protein palmitoylation	IEA	biological process
GO:0016409	palmitoyltransferase activity	IEA	molecular function
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)