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Q5VTY9 (HHAT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:HHAT
Synonyms:MART2, SKI1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length493 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.

Tissue specificity

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

Sequence similarities

Belongs to the membrane-bound acyltransferase family. HHAT subfamily.

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5VTY9-1)

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.
Isoform 2 (identifier: Q5VTY9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     91-155: Missing.
     465-493: WPWVTLSVLGFLYCYSHVGIAWAQTYATD → GLFLFFLLNP...IENTSELSSY
Isoform 3 (identifier: Q5VTY9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     465-493: WPWVTLSVLGFLYCYSHVGIAWAQTYATD → GLFLFFLLNP...IENTSELSSY
Note: No experimental confirmation available.
Isoform 4 (identifier: Q5VTY9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-369: Missing.
     416-451: ARYFSPQARRRFHAALASCSTSMLILSNLVFLGGNE → VSRILAPVLGDSGTRQIRFIRDGAIRFPAPTMGPFY
     452-493: Missing.
Isoform 5 (identifier: Q5VTY9-5)

The sequence of this isoform differs from the canonical sequence as follows:
     91-155: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: Q5VTY9-6)

The sequence of this isoform differs from the canonical sequence as follows:
     92-228: Missing.
Note: No experimental confirmation available.
Isoform 7 (identifier: Q5VTY9-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: MLPRWELALYLLASLGFHFYSFYEVYKVSR → MSLGLGSAERGVLGTRGARERCRRRRPGQPG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 493493Protein-cysteine N-palmitoyltransferase HHAT
PRO_0000213134

Regions

Transmembrane5 – 2521Helical; Potential
Transmembrane69 – 8921Helical; Potential
Transmembrane95 – 11521Helical; Potential
Transmembrane133 – 15220Helical; Potential
Transmembrane200 – 22021Helical; Potential
Transmembrane251 – 27121Helical; Potential
Transmembrane290 – 31021Helical; Potential
Transmembrane360 – 38021Helical; Potential
Transmembrane429 – 44921Helical; Potential
Transmembrane467 – 48721Helical; Potential
Region448 – 4558GTP-binding Probable

Sites

Active site3791 Potential

Natural variations

Alternative sequence1 – 369369Missing in isoform 4.
VSP_016685
Alternative sequence1 – 3030MLPRW…YKVSR → MSLGLGSAERGVLGTRGARE RCRRRRPGQPG in isoform 7.
VSP_044968
Alternative sequence91 – 15565Missing in isoform 2 and isoform 5.
VSP_016686
Alternative sequence92 – 228137Missing in isoform 6.
VSP_043481
Alternative sequence416 – 45136ARYFS…LGGNE → VSRILAPVLGDSGTRQIRFI RDGAIRFPAPTMGPFY in isoform 4.
VSP_016687
Alternative sequence452 – 49342Missing in isoform 4.
VSP_016688
Alternative sequence465 – 49329WPWVT…TYATD → GLFLFFLLNPCWETAFQGFP VFLHFLQTEVLATFVPNYFS WNICIENTSELSSY in isoform 2 and isoform 3.
VSP_016689
Natural variant1651E → G.
Corresponds to variant rs2228898 [ dbSNP | Ensembl ].
VAR_050024
Natural variant1821S → N. Ref.6
Corresponds to variant rs2294851 [ dbSNP | Ensembl ].
VAR_024743
Natural variant1881C → R. Ref.2
Corresponds to variant rs34228541 [ dbSNP | Ensembl ].
VAR_061336
Natural variant4481G → E in a melanoma cell line; abolishes GTP-binding. Ref.1
VAR_024744
Natural variant4501N → S in a lung cancer cell line. Ref.1
VAR_024745

Experimental info

Sequence conflict21L → P in BAA91772. Ref.2
Sequence conflict2041M → V in BAH14561. Ref.2
Sequence conflict4501N → D in BAA91772. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 7, 2004. Version 1.
Checksum: 5E962E2A61F2DE15

FASTA49357,313
        10         20         30         40         50         60 
MLPRWELALY LLASLGFHFY SFYEVYKVSR EHEEELDQEF ELETDTLFGG LKKDATDFEW 

        70         80         90        100        110        120 
SFWMEWGKQW LVWLLLGHMV VSQMATLLAR KHRPWILMLY GMWACWCVLG TPGVAMVLLH 

       130        140        150        160        170        180 
TTISFCVAQF RSQLLTWLCS LLLLSTLRLQ GVEEVKRRWY KTENEYYLLQ FTLTVRCLYY 

       190        200        210        220        230        240 
TSFSLELCWQ QLPAASTSYS FPWMLAYVFY YPVLHNGPIL SFSEFIKQMQ QQEHDSLKAS 

       250        260        270        280        290        300 
LCVLALGLGR LLCWWWLAEL MAHLMYMHAI YSSIPLLETV SCWTLGGLAL AQVLFFYVKY 

       310        320        330        340        350        360 
LVLFGVPALL MRLDGLTPPA LPRCVSTMFS FTGMWRYFDV GLHNFLIRYV YIPVGGSQHG 

       370        380        390        400        410        420 
LLGTLFSTAM TFAFVSYWHG GYDYLWCWAA LNWLGVTVEN GVRRLVETPC IQDSLARYFS 

       430        440        450        460        470        480 
PQARRRFHAA LASCSTSMLI LSNLVFLGGN EVGKTYWNRI FIQGWPWVTL SVLGFLYCYS 

       490 
HVGIAWAQTY ATD 

« Hide

Isoform 2 [UniParc].

Checksum: 83441A7D3EAE5A84
Show »

FASTA45352,891
Isoform 3 [UniParc].

Checksum: 9FDB3E0136FB3AFE
Show »

FASTA51860,308
Isoform 4 [UniParc].

Checksum: E6DA1D13019D20A2
Show »

FASTA829,328
Isoform 5 [UniParc].

Checksum: 0EDD316948355C70
Show »

FASTA42849,896
Isoform 6 [UniParc].

Checksum: 7F78984C97B46E08
Show »

FASTA35641,100
Isoform 7 [UniParc].

Checksum: 52FA7301CED685EF
Show »

FASTA49456,951

References

« Hide 'large scale' references
[1]"Isolation of a new melanoma antigen, MART-2, containing a mutated epitope recognized by autologous tumor-infiltrating T lymphocytes."
Kawakami Y., Wang X., Shofuda T., Sumimoto H., Tupesis J., Fitzgerald E., Rosenberg S.
J. Immunol. 166:2871-2877(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), TISSUE SPECIFICITY, GTP-BINDING, CHARACTERIZATION OF VARIANT GLU-448, VARIANT SER-450.
Tissue: Melanoma.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 5; 6 AND 7), VARIANT ARG-188.
Tissue: Brain, Lung, Teratocarcinoma, Testis and Trachea.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Brain cortex.
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASN-182.
Tissue: Brain and Testis.
[7]Rhodes S.
Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 32-335 (ISOFORM 2).
[8]"Skinny hedgehog, an acyltransferase required for palmitoylation and activity of the hedgehog signal."
Chamoun Z., Mann R.K., Nellen D., von Kessler D.P., Bellotto M., Beachy P.A., Basler K.
Science 293:2080-2084(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 328-390 (ISOFORM 1).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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 expand/collapse EMBL AC list , AC096636, AL034351, AL035414, AL691441 Genomic DNA. Translation: CAH70523.1.
AL034351 Genomic DNA. Translation: CAI23103.1.
AL034351 expand/collapse EMBL AC list , AC096636, AL035414, AL590653, AL691441 Genomic DNA. Translation: CAI23104.1.
AL035414 expand/collapse EMBL AC list , AC096636, AL034351, AL590653, AL691441 Genomic DNA. Translation: CAI22284.1.
AL691441 expand/collapse EMBL AC list , 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.
RefSeqNP_001116306.1. NM_001122834.3.
NP_001164035.1. NM_001170564.2.
NP_001164051.1. NM_001170580.2.
NP_001164058.1. NM_001170587.2.
NP_001164059.1. NM_001170588.2.
NP_060664.2. NM_018194.5.
UniGeneHs.58650.

3D structure databases

ProteinModelPortalQ5VTY9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120852. 1 interaction.
STRING9606.ENSP00000261458.

PTM databases

PhosphoSiteQ5VTY9.

Polymorphism databases

DMDM74747010.

Proteomic databases

PRIDEQ5VTY9.

Protocols and materials databases

DNASU55733.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261458; ENSP00000261458; ENSG00000054392. [Q5VTY9-1]
ENST00000367010; ENSP00000355977; ENSG00000054392. [Q5VTY9-1]
ENST00000391905; ENSP00000375773; ENSG00000054392. [Q5VTY9-3]
ENST00000413764; ENSP00000416845; ENSG00000054392. [Q5VTY9-1]
ENST00000537898; ENSP00000442625; ENSG00000054392. [Q5VTY9-5]
ENST00000541565; ENSP00000444995; ENSG00000054392. [Q5VTY9-6]
ENST00000545154; ENSP00000438468; ENSG00000054392. [Q5VTY9-7]
GeneID55733.
KEGGhsa:55733.
UCSCuc001hhz.4. human. [Q5VTY9-1]
uc009xcy.3. human. [Q5VTY9-5]
uc010psq.2. human. [Q5VTY9-6]

Organism-specific databases

CTD55733.
GeneCardsGC01P210501.
HGNCHGNC:18270. HHAT.
HPAHPA016462.
MIM605743. gene.
neXtProtNX_Q5VTY9.
PharmGKBPA134926499.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1696.
HOGENOMHOG000015758.
HOVERGENHBG106485.
OMAGGLKKDP.
OrthoDBEOG7JT6W2.
PhylomeDBQ5VTY9.
TreeFamTF315826.

Enzyme and pathway databases

SignaLinkQ5VTY9.

Gene expression databases

ArrayExpressQ5VTY9.
BgeeQ5VTY9.
CleanExHS_HHAT.
GenevestigatorQ5VTY9.

Family and domain databases

InterProIPR004299. MBOAT_fam.
[Graphical view]
PfamPF03062. MBOAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55733.
NextBio35480853.
PROQ5VTY9.
SOURCESearch...

Entry information

Entry nameHHAT_HUMAN
AccessionPrimary (citable) accession number: Q5VTY9
Secondary accession number(s): B7Z4D5 expand/collapse secondary AC list , B7Z5I1, B7Z868, B7ZA75, D3DT91, F5H444, Q17RZ7, Q4G0K3, Q5CZ95, Q5TGI2, Q9NVH9, Q9Y3N8
Entry history
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: December 7, 2004
Last modified: April 16, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM