HHAT
entrez
55733
canonical
uniprot
Q5VTY9
canonical
ensembl
ENSG00000054392
resolver
ensembl
ENSG00000280680
resolver
ensp
ENSP00000261458
resolver
ensp
ENSP00000355977
resolver
ensp
ENSP00000416845
resolver
ensp
ENSP00000438468
resolver
ensp
ENSP00000442625
resolver
ensp
ENSP00000444995
resolver
ensp
ENSP00000640007
resolver
genesymbol
HHAT
resolver
genesymbol_syn
MART2
resolver
genesymbol_syn
SKI1
resolver
hgnc
HGNC:18270
resolver
uniprot
B7Z4D5
resolver
uniprot
B7Z5I1
resolver
uniprot
B7Z5N1
resolver
uniprot
B7Z868
resolver
uniprot
B7ZA75
resolver
uniprot
D3DT91
resolver
uniprot
F5H444
resolver
uniprot
Q17RZ7
resolver
uniprot
Q4G0K3
resolver
uniprot
Q5CZ95
resolver
uniprot
Q5TGI2
resolver
uniprot
Q9NVH9
resolver
uniprot
Q9Y3N8
resolver
uniprot_entry
B7Z5N1_HUMAN
resolver
uniprot_entry
HHAT_HUMAN
resolver
uniprot_sec
B7Z4D5
resolver
uniprot_sec
B7Z5I1
resolver
uniprot_sec
B7Z868
resolver
uniprot_sec
B7ZA75
resolver
uniprot_sec
D3DT91
resolver
uniprot_sec
F5H444
resolver
uniprot_sec
Q17RZ7
resolver
uniprot_sec
Q4G0K3
resolver
uniprot_sec
Q5CZ95
resolver
uniprot_sec
Q5TGI2
resolver
uniprot_sec
Q9NVH9
resolver
uniprot_sec
Q9Y3N8
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by NaCl concentrations above 150 mM (PubMed:18534984). Inhibited by small-molecule inhibitor IMP-1575, which blocks palmitoyl-CoA access to hedgehog (PubMed:34890564). {ECO:0000269|PubMed:18534984, ECO:0000269|PubMed:34890564}.
uniprot
proteins
amino_acid_sequence
MLPRWELALYLLASLGFHFYSFYEVYKVSREHEEELDQEFELETDTLFGGLKKDATDFEWSFWMEWGKQWLVWLLLGHMVVSQMATLLARKHRPWILMLYGMWACWCVLGTPGVAMVLLHTTISFCVAQFRSQLLTWLCSLLLLSTLRLQGVEEVKRRWYKTENEYYLLQFTLTVRCLYYTSFSLELCWQQLPAASTSYSFPWMLAYVFYYPVLHNGPILSFSEFIKQMQQQEHDSLKASLCVLALGLGRLLCWWWLAELMAHLMYMHAIYSSIPLLETVSCWTLGGLALAQVLFFYVKYLVLFGVPALLMRLDGLTPPALPRCVSTMFSFTGMWRYFDVGLHNFLIRYVYIPVGGSQHGLLGTLFSTAMTFAFVSYWHGGYDYLWCWAALNWLGVTVENGVRRLVETPCIQDSLARYFSPQARRRFHAALASCSTSMLILSNLVFLGGNEVGKTYWNRIFIQGWPWVTLSVLGFLYCYSHVGIAWAQTYATD
uniprot
proteins
disease_involvement
DISEASE: Nivelon-Nivelon-Mabille syndrome (NNMS) [MIM:600092]: An autosomal recessive syndrome characterized by progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Additional variable features include early infantile-onset seizures, intrauterine and postnatal growth retardation, generalized chondrodysplasia, and micromelia. 46,XY gonadal dysgenesis may be present. {ECO:0000269|PubMed:24784881, ECO:0000269|PubMed:30912300, ECO:0000269|PubMed:34890564, ECO:0000269|PubMed:35045414, ECO:0000269|PubMed:36303863, ECO:0000269|PubMed:40326711}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.-
uniprot
proteins
function
FUNCTION: Palmitoyl acyltransferase that catalyzes N-terminal palmitoylation of hedgehog (DHH, IHH or SHH) morphogens, promoting their maturation (PubMed:11486055, PubMed:18534984, PubMed:24784881, PubMed:31875564, PubMed:34112694, PubMed:34890564). Promotes the transfer of palmitoyl-CoA from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane, where hedgehog palmitoylation occurs (PubMed:31875564, PubMed:34112694, PubMed:34890564). Required for hedgehog signaling during limb development (By similarity). Plays a role in proper testis cord formation and the differentiation of Leydig cells (PubMed:24784881). {ECO:0000250|UniProtKB:Q8BMT9, ECO:0000269|PubMed:11486055, ECO:0000269|PubMed:18534984, ECO:0000269|PubMed:24784881, ECO:0000269|PubMed:31875564, ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564}.
uniprot
proteins
mass_dalton
57313
uniprot
proteins
mutagenesis
MUTAGEN 58; /note="F->A: Does not affect palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 59; /note="E->R: Abolished palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 67; /note="G->L: Reduced palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 255; /note="W->A: Reduced palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 306; /note="V->L,F: Does not affect palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 306; /note="V->R: Strongly reduced palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 324; /note="C->A,S: Abolished palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 325; /note="V->F: Abolished palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 335; /note="W->A: Reduced palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 336; /note="R->E: Abolished palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 339; /note="D->A,N: Nearly abolished palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564"; MUTAGEN 343; /note="H->E: Abolished palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 351; /note="Y->A: No significant effect on catalytic activity. Defective HHAT-mediated palmitoyl-CoA uptake into microsomal membranes."; /evidence="ECO:0000269|PubMed:31875564"; MUTAGEN 379; /note="H->A: Nearly abolished palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:18534984, ECO:0000269|PubMed:31875564, ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564"; MUTAGEN 382..384; /note="YDY->ADA: Strongly reduced palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 386; /note="W->C: Slightly reduced palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564"; MUTAGEN 479; /note="Y->A: Abolished palmitoyltransferase activity."; /evidence="ECO:0000269|PubMed:34890564
uniprot
proteins
protein_family
HHAT subfamily
uniprot
proteins
protein_family
Membrane-bound acyltransferase family
uniprot
proteins
pubmed
11160356
uniprot
proteins
pubmed
11486055
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18534984
uniprot
proteins
pubmed
24784881
uniprot
proteins
pubmed
25505265
uniprot
proteins
pubmed
30912300
uniprot
proteins
pubmed
31875564
uniprot
proteins
pubmed
34112694
uniprot
proteins
pubmed
34890564
uniprot
proteins
pubmed
35045414
uniprot
proteins
pubmed
36303863
uniprot
proteins
pubmed
40326711
uniprot
proteins
sequence_length
493
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:25505265, ECO:0000305|PubMed:18534984}; Multi-pass membrane protein {ECO:0000269|PubMed:25505265}. Golgi apparatus membrane {ECO:0000305|PubMed:18534984}; Multi-pass membrane protein {ECO:0000255}. Note=Co-localizes with SHH in the ER and Golgi membrane. {ECO:0000305|PubMed:18534984}.
uniprot
proteins
transmembrane_region
TRANSMEM 5..23; /note="Helical; Name=alpha1"; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564, ECO:0007744|PDB:7MHY, ECO:0007744|PDB:7MHZ, ECO:0007744|PDB:7Q1U, ECO:0007744|PDB:7Q6Z"; TRANSMEM 69..85; /note="Helical; Name=alpha2"; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564, ECO:0007744|PDB:7MHY, ECO:0007744|PDB:7MHZ, ECO:0007744|PDB:7Q1U, ECO:0007744|PDB:7Q6Z"; TRANSMEM 133..149; /note="Helical; Name=alpha5"; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564, ECO:0007744|PDB:7MHY, ECO:0007744|PDB:7MHZ, ECO:0007744|PDB:7Q1U, ECO:0007744|PDB:7Q6Z"; TRANSMEM 167..185; /note="Helical; Name=alpha6"; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564, ECO:0007744|PDB:7MHY, ECO:0007744|PDB:7MHZ, ECO:0007744|PDB:7Q1U, ECO:0007744|PDB:7Q6Z"; TRANSMEM 240..262; /note="Helical; Name=alpha7"; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564, ECO:0007744|PDB:7MHY, ECO:0007744|PDB:7MHZ, ECO:0007744|PDB:7Q1U, ECO:0007744|PDB:7Q6Z"; TRANSMEM 285..314; /note="Helical; Name=alpha8"; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564, ECO:0007744|PDB:7MHY, ECO:0007744|PDB:7MHZ, ECO:0007744|PDB:7Q1U, ECO:0007744|PDB:7Q6Z"; TRANSMEM 361..379; /note="Helical; Name=alpha9"; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564, ECO:0007744|PDB:7MHY, ECO:0007744|PDB:7MHZ, ECO:0007744|PDB:7Q1U, ECO:0007744|PDB:7Q6Z"; TRANSMEM 386..402; /note="Helical; Name=alpha10"; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564, ECO:0007744|PDB:7MHY, ECO:0007744|PDB:7MHZ, ECO:0007744|PDB:7Q1U, ECO:0007744|PDB:7Q6Z"; TRANSMEM 426..449; /note="Helical; Name=alpha11"; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564, ECO:0007744|PDB:7MHY, ECO:0007744|PDB:7MHZ, ECO:0007744|PDB:7Q1U, ECO:0007744|PDB:7Q6Z"; TRANSMEM 466..486; /note="Helical; Name=alpha12"; /evidence="ECO:0000269|PubMed:34112694, ECO:0000269|PubMed:34890564, ECO:0007744|PDB:7MHY, ECO:0007744|PDB:7MHZ, ECO:0007744|PDB:7Q1U, ECO:0007744|PDB:7Q6Z
uniprot
proteins