Q5VTY9 (HHAT_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 84.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 493 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| Ligand | GTP-binding Nucleotide-binding |
| Molecular function | Acyltransferase Developmental protein Transferase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular_function | GTP binding Inferred from electronic annotation. Source: UniProtKB-KW transferase activity, transferring acyl groupsInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 493 | 493 | Protein-cysteine N-palmitoyltransferase HHAT | PRO_0000213134 | |||||
Regions | |||||||||
| Transmembrane | 5 – 25 | 21 | Helical; Potential | ||||||
| Transmembrane | 69 – 89 | 21 | Helical; Potential | ||||||
| Transmembrane | 95 – 115 | 21 | Helical; Potential | ||||||
| Transmembrane | 133 – 152 | 20 | Helical; Potential | ||||||
| Transmembrane | 200 – 220 | 21 | Helical; Potential | ||||||
| Transmembrane | 251 – 271 | 21 | Helical; Potential | ||||||
| Transmembrane | 290 – 310 | 21 | Helical; Potential | ||||||
| Transmembrane | 360 – 380 | 21 | Helical; Potential | ||||||
| Transmembrane | 429 – 449 | 21 | Helical; Potential | ||||||
| Transmembrane | 467 – 487 | 21 | Helical; Potential | ||||||
| Region | 448 – 455 | 8 | GTP-binding Probable | ||||||
Sites | |||||||||
| Active site | 379 | 1 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 369 | 369 | Missing in isoform 4. | VSP_016685 | |||||
| Alternative sequence | 1 – 30 | 30 | MLPRW…YKVSR → MSLGLGSAERGVLGTRGARE RCRRRRPGQPG in isoform 7. | VSP_044968 | |||||
| Alternative sequence | 91 – 155 | 65 | Missing in isoform 2 and isoform 5. | VSP_016686 | |||||
| Alternative sequence | 92 – 228 | 137 | Missing in isoform 6. | VSP_043481 | |||||
| Alternative sequence | 416 – 451 | 36 | ARYFS…LGGNE → VSRILAPVLGDSGTRQIRFI RDGAIRFPAPTMGPFY in isoform 4. | VSP_016687 | |||||
| Alternative sequence | 452 – 493 | 42 | Missing in isoform 4. | VSP_016688 | |||||
| Alternative sequence | 465 – 493 | 29 | WPWVT…TYATD → GLFLFFLLNPCWETAFQGFP VFLHFLQTEVLATFVPNYFS WNICIENTSELSSY in isoform 2 and isoform 3. | VSP_016689 | |||||
| Natural variant | 165 | 1 | E → G. Corresponds to variant rs2228898 [ dbSNP | Ensembl ]. | VAR_050024 | |||||
| Natural variant | 182 | 1 | S → N. Ref.6 Corresponds to variant rs2294851 [ dbSNP | Ensembl ]. | VAR_024743 | |||||
| Natural variant | 188 | 1 | C → R. Ref.2 Corresponds to variant rs34228541 [ dbSNP | Ensembl ]. | VAR_061336 | |||||
| Natural variant | 448 | 1 | G → E in a melanoma cell line; abolishes GTP-binding. Ref.1 | VAR_024744 | |||||
| Natural variant | 450 | 1 | N → S in a lung cancer cell line. Ref.1 | VAR_024745 | |||||
Experimental info | |||||||||
| Sequence conflict | 2 | 1 | L → P in BAA91772. Ref.2 | ||||||
| Sequence conflict | 204 | 1 | M → V in BAH14561. Ref.2 | ||||||
| Sequence conflict | 450 | 1 | N → D in BAA91772. Ref.2 | ||||||
Sequences
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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. 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. 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. 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 AL691441 Genomic DNA. Translation: CAH70523.1.AL034351 Genomic DNA. Translation: CAI23103.1. AL034351 AL691441 Genomic DNA. Translation: CAI23104.1.AL035414 AL691441 Genomic DNA. Translation: CAI22284.1.AL691441 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. |
| IPI | IPI00018902. IPI00163890. IPI00657747. IPI00922056. IPI00923457. |
| RefSeq | NP_001116306.1. NM_001122834.2. NP_001164035.1. NM_001170564.1. NP_001164051.1. NM_001170580.1. NP_001164058.1. NM_001170587.1. NP_001164059.1. NM_001170588.1. NP_060664.2. NM_018194.4. |
| UniGene | Hs.58650. |
3D structure databases | |
| ProteinModelPortal | Q5VTY9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000261458. |
PTM databases | |
| PhosphoSite | Q5VTY9. |
Polymorphism databases | |
| DMDM | 74747010. |
Proteomic databases | |
| PRIDE | Q5VTY9. |
Protocols and materials databases | |
| DNASU | 55733. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000261458; ENSP00000261458; ENSG00000054392. ENST00000367010; ENSP00000355977; ENSG00000054392. ENST00000391905; ENSP00000375773; ENSG00000054392. ENST00000413764; ENSP00000416845; ENSG00000054392. ENST00000426968; ENSP00000413399; ENSG00000054392. ENST00000537898; ENSP00000442625; ENSG00000054392. ENST00000541565; ENSP00000444995; ENSG00000054392. ENST00000545154; ENSP00000438468; ENSG00000054392. |
| GeneID | 55733. |
| KEGG | hsa:55733. |
| UCSC | uc001hhz.4. human. |
Organism-specific databases | |
| CTD | 55733. |
| GeneCards | GC01P210501. |
| HGNC | HGNC:18270. HHAT. |
| HPA | HPA016462. |
| MIM | 605743. gene. |
| neXtProt | NX_Q5VTY9. |
| PharmGKB | PA134926499. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1696. |
| HOGENOM | HOG000015758. |
| HOVERGEN | HBG106485. |
| OMA | IQSNETY. |
| OrthoDB | EOG41C6W6. |
| PhylomeDB | Q5VTY9. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | hedgehog_2pathway. Signaling events mediated by the Hedgehog family. |
Gene expression databases | |
| ArrayExpress | Q5VTY9. |
| Bgee | Q5VTY9. |
| CleanEx | HS_HHAT. |
| Genevestigator | Q5VTY9. |
| GermOnline | ENSG00000054392. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004299. MBOAT_fam. [Graphical view] |
| Pfam | PF03062. MBOAT. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 55733. |
| NextBio | 35480853. |
| SOURCE | Search... |
Entry information
| Entry name | HHAT_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5VTY9 Secondary accession number(s): B7Z4D5 Q9Y3N8 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
