LMPD Database

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LMP001990

UniProt Annotations

Entry Information
Gene Namehedgehog acyltransferase
Protein EntryHHAT_MOUSE
UniProt IDQ8BMT9
SpeciesMouse
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BMT9-1; Sequence=Displayed; Name=2; IsoId=Q8BMT9-2; Sequence=VSP_016690, VSP_016691; Note=No experimental confirmation available.;
Developmental StageBroadly expressed from E7. At E10.5, strongly expressed in anterior ectoderm, pharyngeal arches, and distal part of the limb. {ECO:0000269|PubMed:15075292}.
Disruption PhenotypeMice are characterized by a smaller size and holoprosencephaly at E10.5, shortening of limbs at E13.5, and severe short-limb dwarfism at birth. They die soon after birth. {ECO:0000269|PubMed:15075292}.
FunctionCatalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling during limb development. May bind GTP. {ECO:0000269|PubMed:15075292}.
SimilarityBelongs to the membrane-bound acyltransferase family. HHAT subfamily. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:15075292, ECO:0000269|PubMed:18081866}; Multi- pass membrane protein {ECO:0000269|PubMed:15075292, ECO:0000269|PubMed:18081866}.