Q8BMT9 B1ANS0 Q3TA33 Q922G3 HHAT_MOUSE Protein-cysteine N-palmitoyltransferase HHAT 2.3.1.- Hedgehog acyltransferase Skinny hedgehog protein Hhat Skn Mus musculus Mouse Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Glires Rodentia Myomorpha Muroidea Muridae Murinae Mus Mus The transcriptional landscape of the mammalian genome. NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1) C57BL/6J NOD Embryo Spleen Lineage-specific biology revealed by a finished genome assembly of the mouse. NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] C57BL/6J The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2) FVB/N Mammary gland Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates. FUNCTION DEVELOPMENTAL STAGE SUBCELLULAR LOCATION DISRUPTION PHENOTYPE CATALYTIC ACTIVITY Mammalian Gup1, a homolog of Saccharomyces cerevisiae glycerol uptake/transporter 1, acts as a negative regulator for N-terminal palmitoylation of Sonic hedgehog. SUBCELLULAR LOCATION Identification of N-terminal residues of Sonic Hedgehog important for palmitoylation by Hedgehog acyltransferase. FUNCTION CATALYTIC ACTIVITY Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. FUNCTION DISRUPTION PHENOTYPE Membrane topology of hedgehog acyltransferase. FUNCTION SUBCELLULAR LOCATION TOPOLOGY Palmitoyl acyltransferase that catalyzes N-terminal palmitoylation of hedgehog (DHH, IHH or SHH) morphogens, promoting their maturation (PubMed:15075292, PubMed:23112049, PubMed:25488661). Promotes the transfer of palmitoyl-CoA from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane, where hedgehog palmitoylation occurs (PubMed:23112049). Required for hedgehog signaling during limb development (PubMed:15075292). Plays a role in proper testis cord formation and the differentiation of Leydig cells (PubMed:24784881). N-terminal L-cysteinyl-[protein] + hexadecanoyl-CoA = N-terminal N-hexadecanoyl-L-cysteinyl-[protein] + CoA + H(+) N-terminal L-cysteinyl-[protein]-C-terminal glycyl cholesterol ester + hexadecanoyl-CoA = N-terminal N-hexadecanoyl-L-cysteinyl-[protein]-C-terminal glycyl cholesterol ester + CoA + H(+) Endoplasmic reticulum membrane Multi-pass membrane protein Golgi apparatus membrane Multi-pass membrane protein Co-localizes with SHH in the ER and Golgi membrane. Q8BMT9-1 1 Q8BMT9-2 2 Broadly expressed from 7 dpc. At 10.5 dpc, strongly expressed in anterior ectoderm, pharyngeal arches, and distal part of the limb. Conditional knockout embryos are characterized by a smaller size and holoprosencephaly at 10.5 dpc, shortening of limbs at 13.5 dpc, and severe short-limb dwarfism at birth. They die soon after birth. Testicular development is significantly impaired in XY embryos by 12.5 dpc. There is a massive reduction in testis size, a reduction in the number of testis cords which are irregular in shape and diameter, and an almost complete absence of Leydig cells (PubMed:24784881). Belongs to the membrane-bound acyltransferase family. HHAT subfamily. Acyltransferase Alternative splicing Developmental protein Endoplasmic reticulum Golgi apparatus GTP-binding Lipoprotein Membrane Nucleotide-binding Palmitate Reference proteome Transferase Transmembrane Transmembrane helix heme b heme b heme b hexadecanoyl-CoA hexadecanoyl-CoA hexadecanoyl-CoA hexadecanoyl-CoA hexadecanoyl-CoA hexadecanoyl-CoA hexadecanoyl-CoA hexadecanoyl-CoA GTP GWPW AAFR D G MLPGWELTLCLLVSLGFHFRSFYEVYKVSREHEEELDQEFELEMDTLFGGLKKDPTDFEWNFWMEWGKRRLVWLFIGHMAVSQLATLLTKKHRPWIVMVYGMWACWCVLGAPGVVMVLLHSTIAFCVAQFRSVLLSWLCSLLLLSTLRLQSVEEVKRRWYKTENEYYLLQFTLTVRCLYYTSFSLELCRQPPSAQPTPSAQGASHSYPWLLTYVFYYPVFHNGPILNFPEFFRQMQQPELNSLQHSLCIVAKGLGRLLCWWWLAELMVHLMYMHALYSSAPLLESVSCWTLGGLALAQVLFFYVKYLVLFGVPALLMRLDGLTPPPLPRCVSTMFSFTGMWRYFDVGLHNFLIRYVYIPLGGSQHGLLGTLLSTATTFAFVSYWHGSYEDLWCWAALNWLGVTVESGVRRLLETPCVRETLARHLSPQAHHRLHALLAACSTSMLILFNLVFLGGIQVGKTYWNRIFLQGWPWVTLSVLGFLYCYSHVDIAWAQTYTVL Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms Distributed under the Creative Commons Attribution (CC BY 4.0) License