Gene/Proteome Database (LMPD)

LMPD ID
LMP004595
Gene ID
55733
Species
Homo sapiens (Human)
Gene Name
hedgehog acyltransferase
Gene Symbol
HHAT
Synonyms
MART2; SKI1; Skn
Chromosome
1
Map Location
1q32
EC Number
2.3.1.-
Summary
'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]
Orthologs
View orthologs and multiple alignments for HHAT

Proteins

protein-cysteine N-palmitoyltransferase HHAT isoform 1
Refseq ID NP_060664
Protein GI 170784861
UniProt ID Q5VTY9
mRNA ID NM_018194
Length 493
RefSeq Status VALIDATED
MLPRWELALYLLASLGFHFYSFYEVYKVSREHEEELDQEFELETDTLFGGLKKDATDFEWSFWMEWGKQWLVWLLLGHMVVSQMATLLARKHRPWILMLYGMWACWCVLGTPGVAMVLLHTTISFCVAQFRSQLLTWLCSLLLLSTLRLQGVEEVKRRWYKTENEYYLLQFTLTVRCLYYTSFSLELCWQQLPAASTSYSFPWMLAYVFYYPVLHNGPILSFSEFIKQMQQQEHDSLKASLCVLALGLGRLLCWWWLAELMAHLMYMHAIYSSIPLLETVSCWTLGGLALAQVLFFYVKYLVLFGVPALLMRLDGLTPPALPRCVSTMFSFTGMWRYFDVGLHNFLIRYVYIPVGGSQHGLLGTLFSTAMTFAFVSYWHGGYDYLWCWAALNWLGVTVENGVRRLVETPCIQDSLARYFSPQARRRFHAALASCSTSMLILSNLVFLGGNEVGKTYWNRIFIQGWPWVTLSVLGFLYCYSHVGIAWAQTYATD
protein-cysteine N-palmitoyltransferase HHAT isoform 1
Refseq ID NP_001116306
Protein GI 170784863
UniProt ID Q5VTY9
mRNA ID NM_001122834
Length 493
RefSeq Status VALIDATED
Protein sequence is identical to GI:170784861 (mRNA isoform)
protein-cysteine N-palmitoyltransferase HHAT isoform 1
Refseq ID NP_001164051
Protein GI 282397094
UniProt ID Q5VTY9
mRNA ID NM_001170580
Length 493
RefSeq Status VALIDATED
Protein sequence is identical to GI:170784861 (mRNA isoform)
protein-cysteine N-palmitoyltransferase HHAT isoform 2
Refseq ID NP_001164035
Protein GI 282396062
UniProt ID Q5VTY9
mRNA ID NM_001170564
Length 356
RefSeq Status VALIDATED
MLPRWELALYLLASLGFHFYSFYEVYKVSREHEEELDQEFELETDTLFGGLKKDATDFEWSFWMEWGKQWLVWLLLGHMVVSQMATLLARKMQQQEHDSLKASLCVLALGLGRLLCWWWLAELMAHLMYMHAIYSSIPLLETVSCWTLGGLALAQVLFFYVKYLVLFGVPALLMRLDGLTPPALPRCVSTMFSFTGMWRYFDVGLHNFLIRYVYIPVGGSQHGLLGTLFSTAMTFAFVSYWHGGYDYLWCWAALNWLGVTVENGVRRLVETPCIQDSLARYFSPQARRRFHAALASCSTSMLILSNLVFLGGNEVGKTYWNRIFIQGWPWVTLSVLGFLYCYSHVGIAWAQTYATD
protein-cysteine N-palmitoyltransferase HHAT isoform 3
Refseq ID NP_001164059
Protein GI 282398139
UniProt ID Q5VTY9
mRNA ID NM_001170588
Length 428
RefSeq Status VALIDATED
MLPRWELALYLLASLGFHFYSFYEVYKVSREHEEELDQEFELETDTLFGGLKKDATDFEWSFWMEWGKQWLVWLLLGHMVVSQMATLLARKRRWYKTENEYYLLQFTLTVRCLYYTSFSLELCWQQLPAASTSYSFPWMLAYVFYYPVLHNGPILSFSEFIKQMQQQEHDSLKASLCVLALGLGRLLCWWWLAELMAHLMYMHAIYSSIPLLETVSCWTLGGLALAQVLFFYVKYLVLFGVPALLMRLDGLTPPALPRCVSTMFSFTGMWRYFDVGLHNFLIRYVYIPVGGSQHGLLGTLFSTAMTFAFVSYWHGGYDYLWCWAALNWLGVTVENGVRRLVETPCIQDSLARYFSPQARRRFHAALASCSTSMLILSNLVFLGGNEVGKTYWNRIFIQGWPWVTLSVLGFLYCYSHVGIAWAQTYATD
protein-cysteine N-palmitoyltransferase HHAT isoform 4
Refseq ID NP_001164058
Protein GI 282397094
UniProt ID Q5VTY9
mRNA ID NM_001170587
Length 493
RefSeq Status VALIDATED
Protein sequence is identical to GI:170784861 (mRNA isoform)

Gene Information

Entrez Gene ID
55733
Gene Name
hedgehog acyltransferase
Gene Symbol
HHAT
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005783 IEA:UniProtKB-KW C endoplasmic reticulum
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0005525 IEA:UniProtKB-KW F GTP binding
GO:0016409 IEA:Ensembl F palmitoyltransferase activity
GO:0007275 IEA:UniProtKB-KW P multicellular organismal development
GO:0018345 IEA:Ensembl P protein palmitoylation
GO:0007224 IEA:Ensembl P smoothened signaling pathway

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_228111 Hedgehog ligand biogenesis
REACT_228209 Hh ligand biogenesis disease
REACT_228190 Processing-defective Hh variants abrogate ligand secretion

Domain Information

InterPro Annotations

Accession Description
IPR004299 Membrane bound O-acyl transferase, MBOAT

UniProt Annotations

Entry Information

Gene Name
hedgehog acyltransferase
Protein Entry
HHAT_HUMAN
UniProt ID
Q5VTY9
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=7; Name=1; IsoId=Q5VTY9-1; Sequence=Displayed; Name=2; IsoId=Q5VTY9-2; Sequence=VSP_016686, VSP_016689; Name=3; IsoId=Q5VTY9-3; Sequence=VSP_016689; Note=No experimental confirmation available.; Name=4; IsoId=Q5VTY9-4; Sequence=VSP_016685, VSP_016687, VSP_016688; Name=5; IsoId=Q5VTY9-5; Sequence=VSP_016686; Note=No experimental confirmation available.; Name=6; IsoId=Q5VTY9-6; Sequence=VSP_043481; Note=No experimental confirmation available.; Name=7; IsoId=Q5VTY9-7; Sequence=VSP_044968; Note=No experimental confirmation available.;
Function Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling (By similarity). May bind GTP.
Similarity Belongs to the membrane-bound acyltransferase family. HHAT subfamily.
Subcellular Location Endoplasmic reticulum membrane {ECO
Tissue Specificity Ubiquitously expressed in normal tissues and cancer cell lines.

Identical and Related Proteins

Unique RefSeq proteins for LMP004595 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
170784861 RefSeq NP_060664 493 protein-cysteine N-palmitoyltransferase HHAT isoform 1
282396062 RefSeq NP_001164035 356 protein-cysteine N-palmitoyltransferase HHAT isoform 2
282398139 RefSeq NP_001164059 428 protein-cysteine N-palmitoyltransferase HHAT isoform 3

Identical Sequences to LMP004595 proteins

Reference Database Accession Length Protein Name
GI:282398139 DBBJ BAH14895.1 428 unnamed protein product [Homo sapiens]
GI:282396062 DBBJ BAH12521.1 356 unnamed protein product [Homo sapiens]
GI:282398139 DBBJ BAH12917.1 428 unnamed protein product [Homo sapiens]
GI:170784861 GenBank EAW93427.1 493 hedgehog acyltransferase, isoform CRA_b [Homo sapiens]
GI:170784861 GenBank EAW93428.1 493 hedgehog acyltransferase, isoform CRA_b [Homo sapiens]
GI:170784861 GenBank EAW93430.1 493 hedgehog acyltransferase, isoform CRA_b [Homo sapiens]
GI:170784861 RefSeq NP_001116306.1 493 protein-cysteine N-palmitoyltransferase HHAT isoform 1 [Homo sapiens]
GI:170784861 RefSeq NP_001164051.1 493 protein-cysteine N-palmitoyltransferase HHAT isoform 1 [Homo sapiens]
GI:170784861 SwissProt Q5VTY9.1 493 RecName: Full=Protein-cysteine N-palmitoyltransferase HHAT; AltName: Full=Hedgehog acyltransferase; AltName: Full=Melanoma antigen recognized by T-cells 2; Short=MART-2; AltName: Full=Skinny hedgehog protein 1 [Homo sapiens]

Related Sequences to LMP004595 proteins

Reference Database Accession Length Protein Name
GI:170784861 DBBJ BAA91772.1 493 unnamed protein product [Homo sapiens]
GI:170784861 EMBL CAE89548.1 493 unnamed protein product [Homo sapiens]
GI:170784861 GenBank AAI17131.1 493 Hedgehog acyltransferase [Homo sapiens]
GI:170784861 GenBank ADR83019.1 493 hedgehog acyltransferase (HHAT), transcript variant 2, partial [synthetic construct]
GI:170784861 GenBank AIC56727.1 493 HHAT, partial [synthetic construct]
GI:282398139 RefSeq XP_003273075.1 428 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform 5 [Nomascus leucogenys]
GI:282396062 RefSeq XP_003273076.1 356 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform 6 [Nomascus leucogenys]
GI:282398139 RefSeq XP_003339054.1 428 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform X6 [Pan troglodytes]
GI:282396062 RefSeq XP_003308782.1 356 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform X7 [Pan troglodytes]
GI:282396062 RefSeq XP_004424930.1 356 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform 5 [Ceratotherium simum simum]
GI:282398139 RefSeq XP_005540798.1 492 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform X9 [Macaca fascicularis]
GI:282398139 RefSeq XP_005540799.1 428 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform X10 [Macaca fascicularis]
GI:282396062 RefSeq XP_005540800.1 420 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform X11 [Macaca fascicularis]
GI:170784861 RefSeq XP_006711504.1 527 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform X1 [Homo sapiens]
GI:282396062 RefSeq XP_007986747.1 381 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform X8 [Chlorocebus sabaeus]
GI:282396062 RefSeq XP_008514923.1 356 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform X3 [Equus przewalskii]
GI:282398139 RefSeq XP_009439701.1 454 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform X5 [Pan troglodytes]
GI:282398139 RefSeq XP_010339280.1 428 PREDICTED: protein-cysteine N-palmitoyltransferase HHAT isoform X4 [Saimiri boliviensis boliviensis]