• Gene id: 57467

Gene Summary

• Gene Symbol: HHATL   Gene   UCSC   Ensembl
• Aliases: C3orf3, GUP1, MBOAT3, MSTP002, OACT3
• Gene name: hedgehog acyltransferase like
• Alternate names: protein-cysteine N-palmitoyltransferase HHAT-like protein, GUP1 glycerol uptake/transporter homolog, glycerol uptake/transporter homolog, hedgehog acyltransferase-like protein, membrane bound O-acyltransferase domain containing 3,
• Gene location: 3p22.1 (42702848: 42692662)     Exons: 14     NC_000003.12
• OMIM: 610046

Protein Summary

• Protein general information: Q9HCP6  
  • Name: Protein cysteine N palmitoyltransferase HHAT like protein (Glycerol uptake/transporter homolog) (Hedgehog acyltransferase like protein)
  • Length: 504  
  • Mass: 56703
  • Tissue specificity: Heart-specific. {ECO
• Sequence:

  MGIKTALPAAELGLYSLVLSGALAYAGRGLLEASQDGAHRKAFRESVRPGWEYIGRKMDVADFEWVMWFTSFRNV
  IIFALSGHVLFAKLCTMVAPKLRSWMYAVYGALAVMGTMGPWYLLLLLGHCVGLYVASLLGQPWLCLGLGLASLA
  SFKMDPLISWQSGFVTGTFDLQEVLFHGGSSFTVLRCTSFALESCAHPDRHYSLADLLKYNFYLPFFFFGPIMTF
  DRFHAQVSQVEPVRREGELWHIRAQAGLSVVAIMAVDIFFHFFYILTIPSDLKFANRLPDSALAGLAYSNLVYDW
  VKAAVLFGVVNTVACLDHLDPPQPPKCITALYVFAETHFDRGINDWLCKYVYNHIGGEHSAVIPELAATVATFAI
  TTLWLGPCDIVYLWSFLNCFGLNFELWMQKLAEWGPLARIEASLSVQMSRRVRALFGAMNFWAIIMYNLVSLNSL
  KFTELVARRLLLTGFPQTTLSILFVTYCGVQLVKERERTLALEEEQKQDKEKPE

• Structural information:
  • Interpro: IPR032980  IPR004299  
  • STRING: ENSP00000405423
• Other Databases: GeneCards:  HHATL  Malacards:  HHATL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0016746	transferase activity, transferring acyl groups	IBA	molecular function
GO:0060262	negative regulation of N-terminal protein palmitoylation	IBA	biological process
GO:0060262	negative regulation of N-terminal protein palmitoylation	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060262	negative regulation of N-terminal protein palmitoylation	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0060262	negative regulation of N-terminal protein palmitoylation	ISS	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R