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Protein

Protein-cysteine N-palmitoyltransferase HHAT

Gene

HHAT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP.By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei379Sequence analysis1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionAcyltransferase, Developmental protein, Transferase
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5358346 Hedgehog ligand biogenesis
R-HSA-5658034 HHAT G278V abrogates palmitoylation of Hh-Np
SignaLinkiQ5VTY9
SIGNORiQ5VTY9

Names & Taxonomyi

Protein namesi
Recommended name:
Protein-cysteine N-palmitoyltransferase HHAT (EC:2.3.1.-)
Alternative name(s):
Hedgehog acyltransferase
Melanoma antigen recognized by T-cells 2
Short name:
MART-2
Skinny hedgehog protein 1
Gene namesi
Name:HHAT
Synonyms:MART2, SKI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000054392.12
HGNCiHGNC:18270 HHAT
MIMi605743 gene
neXtProtiNX_Q5VTY9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 5CytoplasmicSequence analysis5
Transmembranei6 – 22HelicalSequence analysisAdd BLAST17
Topological domaini23 – 67LumenalSequence analysisAdd BLAST45
Transmembranei68 – 84HelicalSequence analysisAdd BLAST17
Topological domaini85 – 94CytoplasmicSequence analysis10
Intramembranei95 – 119Sequence analysisAdd BLAST25
Topological domaini120 – 131CytoplasmicSequence analysisAdd BLAST12
Transmembranei132 – 148HelicalSequence analysisAdd BLAST17
Topological domaini149 – 162LumenalSequence analysisAdd BLAST14
Transmembranei163 – 183HelicalSequence analysisAdd BLAST21
Topological domaini184 – 202CytoplasmicSequence analysisAdd BLAST19
Intramembranei203 – 217Sequence analysisAdd BLAST15
Topological domaini218 – 243CytoplasmicSequence analysisAdd BLAST26
Transmembranei244 – 271HelicalSequence analysisAdd BLAST28
Topological domaini272 – 281LumenalSequence analysis10
Transmembranei282 – 310HelicalSequence analysisAdd BLAST29
Topological domaini311 – 363CytoplasmicSequence analysisAdd BLAST53
Transmembranei364 – 380HelicalSequence analysisAdd BLAST17
Topological domaini381 – 383LumenalSequence analysis3
Transmembranei384 – 399HelicalSequence analysisAdd BLAST16
Topological domaini400 – 427CytoplasmicSequence analysisAdd BLAST28
Transmembranei428 – 448HelicalSequence analysisAdd BLAST21
Topological domaini449 – 462LumenalSequence analysisAdd BLAST14
Transmembranei463 – 481HelicalSequence analysisAdd BLAST19
Topological domaini482 – 493CytoplasmicSequence analysisAdd BLAST12

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55733
MalaCardsiHHAT
OpenTargetsiENSG00000054392
Orphaneti1422 Chondrodysplasia - disorder of sex development
PharmGKBiPA134926499

Polymorphism and mutation databases

BioMutaiHHAT
DMDMi74747010

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002131341 – 493Protein-cysteine N-palmitoyltransferase HHATAdd BLAST493

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi188S-palmitoyl cysteine1 Publication1
Lipidationi242S-palmitoyl cysteine1 Publication1
Lipidationi324S-palmitoyl cysteine1 Publication1
Lipidationi410S-palmitoyl cysteine1 Publication1

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ5VTY9
PeptideAtlasiQ5VTY9
PRIDEiQ5VTY9
ProteomicsDBi65361
65362 [Q5VTY9-2]
65363 [Q5VTY9-3]
65364 [Q5VTY9-4]
65365 [Q5VTY9-5]
65366 [Q5VTY9-6]

PTM databases

iPTMnetiQ5VTY9
PhosphoSitePlusiQ5VTY9
SwissPalmiQ5VTY9

Expressioni

Tissue specificityi

Ubiquitously expressed in normal tissues and cancer cell lines.1 Publication

Gene expression databases

BgeeiENSG00000054392
CleanExiHS_HHAT
ExpressionAtlasiQ5VTY9 baseline and differential
GenevisibleiQ5VTY9 HS

Organism-specific databases

HPAiHPA016462

Interactioni

Protein-protein interaction databases

IntActiQ5VTY9, 1 interactor
STRINGi9606.ENSP00000438468

Structurei

3D structure databases

ProteinModelPortaliQ5VTY9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni448 – 455GTP-binding1 Publication8

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3860 Eukaryota
COG1696 LUCA
GeneTreeiENSGT00530000063629
HOGENOMiHOG000015758
HOVERGENiHBG106485
InParanoidiQ5VTY9
OMAiGMWRHFD
OrthoDBiEOG091G0AFA
PhylomeDBiQ5VTY9
TreeFamiTF315826

Family and domain databases

InterProiView protein in InterPro
IPR032981 HHAT
IPR004299 MBOAT_fam
PANTHERiPTHR13285:SF20 PTHR13285:SF20, 1 hit
PfamiView protein in Pfam
PF03062 MBOAT, 1 hit

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5VTY9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLPRWELALY LLASLGFHFY SFYEVYKVSR EHEEELDQEF ELETDTLFGG
60 70 80 90 100
LKKDATDFEW SFWMEWGKQW LVWLLLGHMV VSQMATLLAR KHRPWILMLY
110 120 130 140 150
GMWACWCVLG TPGVAMVLLH TTISFCVAQF RSQLLTWLCS LLLLSTLRLQ
160 170 180 190 200
GVEEVKRRWY KTENEYYLLQ FTLTVRCLYY TSFSLELCWQ QLPAASTSYS
210 220 230 240 250
FPWMLAYVFY YPVLHNGPIL SFSEFIKQMQ QQEHDSLKAS LCVLALGLGR
260 270 280 290 300
LLCWWWLAEL MAHLMYMHAI YSSIPLLETV SCWTLGGLAL AQVLFFYVKY
310 320 330 340 350
LVLFGVPALL MRLDGLTPPA LPRCVSTMFS FTGMWRYFDV GLHNFLIRYV
360 370 380 390 400
YIPVGGSQHG LLGTLFSTAM TFAFVSYWHG GYDYLWCWAA LNWLGVTVEN
410 420 430 440 450
GVRRLVETPC IQDSLARYFS PQARRRFHAA LASCSTSMLI LSNLVFLGGN
460 470 480 490
EVGKTYWNRI FIQGWPWVTL SVLGFLYCYS HVGIAWAQTY ATD
Length:493
Mass (Da):57,313
Last modified:December 7, 2004 - v1
Checksum:i5E962E2A61F2DE15
GO
Isoform 2 (identifier: Q5VTY9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     91-155: Missing.
     465-493: WPWVTLSVLGFLYCYSHVGIAWAQTYATD → GLFLFFLLNP...IENTSELSSY

Show »
Length:453
Mass (Da):52,891
Checksum:i83441A7D3EAE5A84
GO
Isoform 3 (identifier: Q5VTY9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     465-493: WPWVTLSVLGFLYCYSHVGIAWAQTYATD → GLFLFFLLNP...IENTSELSSY

Note: No experimental confirmation available.
Show »
Length:518
Mass (Da):60,308
Checksum:i9FDB3E0136FB3AFE
GO
Isoform 4 (identifier: Q5VTY9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-369: Missing.
     416-451: ARYFSPQARRRFHAALASCSTSMLILSNLVFLGGNE → VSRILAPVLGDSGTRQIRFIRDGAIRFPAPTMGPFY
     452-493: Missing.

Show »
Length:82
Mass (Da):9,328
Checksum:iE6DA1D13019D20A2
GO
Isoform 5 (identifier: Q5VTY9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     91-155: Missing.

Note: No experimental confirmation available.
Show »
Length:428
Mass (Da):49,896
Checksum:i0EDD316948355C70
GO
Isoform 6 (identifier: Q5VTY9-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     92-228: Missing.

Note: No experimental confirmation available.
Show »
Length:356
Mass (Da):41,100
Checksum:i7F78984C97B46E08
GO
Isoform 7 (identifier: Q5VTY9-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: MLPRWELALYLLASLGFHFYSFYEVYKVSR → MSLGLGSAERGVLGTRGARERCRRRRPGQPG

Note: No experimental confirmation available.
Show »
Length:494
Mass (Da):56,951
Checksum:i52FA7301CED685EF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2L → P in BAA91772 (PubMed:14702039).Curated1
Sequence conflicti204M → V in BAH14561 (PubMed:14702039).Curated1
Sequence conflicti450N → D in BAA91772 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050024165E → G. Corresponds to variant dbSNP:rs2228898Ensembl.1
Natural variantiVAR_024743182S → N1 PublicationCorresponds to variant dbSNP:rs2294851Ensembl.1
Natural variantiVAR_061336188C → R1 PublicationCorresponds to variant dbSNP:rs34228541Ensembl.1
Natural variantiVAR_024744448G → E in a melanoma cell line; abolishes GTP-binding. 1 PublicationCorresponds to variant dbSNP:rs757163023Ensembl.1
Natural variantiVAR_024745450N → S in a lung cancer cell line. 1 PublicationCorresponds to variant dbSNP:rs147954610Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0166851 – 369Missing in isoform 4. 1 PublicationAdd BLAST369
Alternative sequenceiVSP_0449681 – 30MLPRW…YKVSR → MSLGLGSAERGVLGTRGARE RCRRRRPGQPG in isoform 7. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_01668691 – 155Missing in isoform 2 and isoform 5. 3 PublicationsAdd BLAST65
Alternative sequenceiVSP_04348192 – 228Missing in isoform 6. 1 PublicationAdd BLAST137
Alternative sequenceiVSP_016687416 – 451ARYFS…LGGNE → VSRILAPVLGDSGTRQIRFI RDGAIRFPAPTMGPFY in isoform 4. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_016688452 – 493Missing in isoform 4. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_016689465 – 493WPWVT…TYATD → GLFLFFLLNPCWETAFQGFP VFLHFLQTEVLATFVPNYFS WNICIENTSELSSY in isoform 2 and isoform 3. 2 PublicationsAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001586 mRNA Translation: BAA91772.1
AK297193 mRNA Translation: BAH12521.1
AK298991 mRNA Translation: BAH12917.1
AK302955 mRNA Translation: BAH13854.1
AK316190 mRNA Translation: BAH14561.1
AK316524 mRNA Translation: BAH14895.1
CR936628 mRNA Translation: CAI56771.1
AL590653
, AC096636, AL034351, AL035414, AL691441 Genomic DNA Translation: CAH70523.1
AL034351 Genomic DNA Translation: CAI23103.1
AL034351
, AC096636, AL035414, AL590653, AL691441 Genomic DNA Translation: CAI23104.1
AL035414
, AC096636, AL034351, AL590653, AL691441 Genomic DNA Translation: CAI22284.1
AL691441
, AC096636, AL034351, AL035414, AL590653 Genomic DNA Translation: CAI17039.1
BX255872 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93427.1
CH471100 Genomic DNA Translation: EAW93428.1
CH471100 Genomic DNA Translation: EAW93430.1
BC117130 mRNA Translation: AAI17131.1
AL049848 mRNA Translation: CAB42852.1
CCDSiCCDS1495.1 [Q5VTY9-1]
CCDS53471.1 [Q5VTY9-7]
CCDS53472.1 [Q5VTY9-5]
CCDS53473.1 [Q5VTY9-6]
RefSeqiNP_001116306.1, NM_001122834.3 [Q5VTY9-1]
NP_001164035.1, NM_001170564.2 [Q5VTY9-6]
NP_001164051.1, NM_001170580.2 [Q5VTY9-1]
NP_001164058.1, NM_001170587.2 [Q5VTY9-7]
NP_001164059.1, NM_001170588.2 [Q5VTY9-5]
NP_060664.2, NM_018194.5 [Q5VTY9-1]
XP_011508041.1, XM_011509739.2 [Q5VTY9-3]
XP_011508042.1, XM_011509740.2 [Q5VTY9-3]
XP_011508043.1, XM_011509741.2 [Q5VTY9-3]
XP_011508048.1, XM_011509746.2 [Q5VTY9-2]
XP_016857218.1, XM_017001729.1 [Q5VTY9-3]
XP_016857221.1, XM_017001732.1 [Q5VTY9-5]
XP_016857224.1, XM_017001735.1 [Q5VTY9-5]
XP_016857226.1, XM_017001737.1 [Q5VTY9-6]
UniGeneiHs.58650

Genome annotation databases

EnsembliENST00000261458; ENSP00000261458; ENSG00000054392 [Q5VTY9-1]
ENST00000367010; ENSP00000355977; ENSG00000054392 [Q5VTY9-1]
ENST00000413764; ENSP00000416845; ENSG00000054392 [Q5VTY9-1]
ENST00000537898; ENSP00000442625; ENSG00000054392 [Q5VTY9-5]
ENST00000541565; ENSP00000444995; ENSG00000054392 [Q5VTY9-6]
ENST00000545154; ENSP00000438468; ENSG00000054392 [Q5VTY9-7]
ENST00000625523; ENSP00000486634; ENSG00000280680 [Q5VTY9-6]
ENST00000625820; ENSP00000486054; ENSG00000280680 [Q5VTY9-1]
ENST00000626327; ENSP00000487414; ENSG00000280680 [Q5VTY9-5]
ENST00000627903; ENSP00000487400; ENSG00000280680 [Q5VTY9-1]
ENST00000628693; ENSP00000486611; ENSG00000280680 [Q5VTY9-7]
ENST00000629360; ENSP00000486128; ENSG00000280680 [Q5VTY9-1]
GeneIDi55733
KEGGihsa:55733
UCSCiuc001hhz.5 human [Q5VTY9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHHAT_HUMAN
AccessioniPrimary (citable) accession number: Q5VTY9
Secondary accession number(s): B7Z4D5
, B7Z5I1, B7Z868, B7ZA75, D3DT91, F5H444, Q17RZ7, Q4G0K3, Q5CZ95, Q5TGI2, Q9NVH9, Q9Y3N8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: December 7, 2004
Last modified: June 20, 2018
This is version 129 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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