HHAT is a 493 amino acid multi-pass membrane protein that localizes to the endoplasmic reticulum and belongs to the membrane-bound acyltransferase family. Expressed ubiquitously, HHAT functions to catalyze the N-terminal palmitoylation of SSH (slingshot homolog), an event that is required for SHH signaling pathways. HHAT is expressed in cancer cell lines, suggesting a role for HHAT in tumorigenesis. The gene encoding HHAT maps to human chromosome 1 and is expressed as four alternatively spliced isoforms. Chromosome 1 is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. Several disorders, including Stickler syndrome, Parkinsons Disease, Gaucher disease, malignant melanoma and Usher syndrome, are caused by defects in genes that localize to chromosome 1.
Function:
Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling (By similarity). May bind GTP.
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity).
Tissue Specificity:
Ubiquitously expressed in normal tissues and cancer cell lines.
Similarity:
Belongs to the membrane-bound acyltransferase family. HHAT subfamily.
SWISS:
Q9HCP6
Gene ID:
57467
Database links:
Entrez Gene: 57467 Human
Entrez Gene: 74770 Mouse
Entrez Gene: 301073 Rat
Omim: 608116 Human
SwissProt: Q9HCP6 Human
SwissProt: Q9D1G3 Mouse
Unigene: 476041 Human
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