O60243 (H6ST1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 91.
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: Heparan-sulfate 6-O-sulfotransferase 1 Short name=HS6ST-1 EC=2.8.2.- | ||||
| Gene names |
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| 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 | 411 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. |
| Catalytic activity | 3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate + [heparan sulfate]-glucosamine 6-sulfate. |
| Subcellular location | Membrane; Single-pass type II membrane protein Potential. |
| Tissue specificity | Expressed in fetal brain. Ref.1 |
| Post-translational modification | N-glycosylated By similarity. |
| Sequence similarities | Belongs to the sulfotransferase 6 family. |
| Sequence caution | The sequence AAY14736.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA25760.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAA25760.1 differs from that shown. Reason: Frameshift at positions 5 and 7. The sequence BAG57153.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O60243-1) 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: O60243-2) The sequence of this isoform differs from the canonical sequence as follows: 1-162: Missing. 163-175: VLDRRDSAALRTP → MFSWCLWPVVGES | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 411 | 411 | Heparan-sulfate 6-O-sulfotransferase 1 | PRO_0000190801 | |||||
Regions | |||||||||
| Topological domain | 11 – 17 | 7 | Cytoplasmic Potential | ||||||
| Transmembrane | 18 – 37 | 20 | Helical; Signal-anchor for type II membrane protein; Potential | ||||||
| Topological domain | 38 – 411 | 374 | Lumenal Potential | ||||||
| Region | 96 – 102 | 7 | 5'-phosphosulfate-binding Potential | ||||||
| Region | 185 – 193 | 9 | 3'-phosphate binding Potential | ||||||
| Coiled coil | 352 – 387 | 36 | Potential | ||||||
| Compositional bias | 2 – 5 | 4 | Poly-Arg | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 264 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 320 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 162 | 162 | Missing in isoform 2. | VSP_037048 | |||||
| Alternative sequence | 163 – 175 | 13 | VLDRR…ALRTP → MFSWCLWPVVGES in isoform 2. | VSP_037049 | |||||
Experimental info | |||||||||
| Sequence conflict | 55 | 1 | D → Y in BAA25760. Ref.1 | ||||||
| Sequence conflict | 191 | 1 | Y → C in BAG57153. Ref.2 | ||||||
| Sequence conflict | 255 | 1 | A → T in BAG57153. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular characterization and expression of heparan-sulfate 6-sulfotransferase." Habuchi H., Kobayashi M., Kimata K. J. Biol. Chem. 273:9208-9213(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Fetal brain. |
| [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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 171-411 (ISOFORM 1). Tissue: Cerebellum and Hippocampus. |
| [3] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "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). Tissue: Eye. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB006179 mRNA. Translation: BAA25760.1. Sequence problems. AK293724 mRNA. Translation: BAG57153.1. Different initiation. AK295898 mRNA. Translation: BAG58691.1. AC017079 Genomic DNA. Translation: AAY14736.1. Different initiation. BC001196 mRNA. Translation: AAH01196.1. BC096239 mRNA. Translation: AAH96239.4. BC096240 mRNA. Translation: AAH96240.4. BC099638 mRNA. Translation: AAH99638.4. BC099639 mRNA. Translation: AAH99639.4. |
| IPI | IPI00028449. IPI00929423. |
| RefSeq | NP_004798.3. NM_004807.2. |
| UniGene | Hs.512841. |
3D structure databases | |
| ProteinModelPortal | O60243. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000259241. |
PTM databases | |
| PhosphoSite | O60243. |
Proteomic databases | |
| PaxDb | O60243. |
| PRIDE | O60243. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000259241; ENSP00000259241; ENSG00000136720. |
| GeneID | 9394. |
| KEGG | hsa:9394. |
| UCSC | uc002tpt.4. human. |
Organism-specific databases | |
| CTD | 9394. |
| GeneCards | GC02M128929. |
| HGNC | HGNC:5201. HS6ST1. |
| HPA | HPA044586. |
| MIM | 604846. gene. |
| neXtProt | NX_O60243. |
| Orphanet | 478. Kallmann syndrome. 432. Normosmic congenital hypogonadotropic hypogonadism. |
| PharmGKB | PA35102. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG302961. |
| HOGENOM | HOG000007772. |
| HOVERGEN | HBG083012. |
| InParanoid | O60243. |
| KO | K02514. |
| OMA | MVERSSK. |
| OrthoDB | EOG4X6C8G. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:ENSG00000136720-MONOMER. |
| Reactome | REACT_111217. Metabolism. REACT_116125. Disease. |
Gene expression databases | |
| ArrayExpress | O60243. |
| Bgee | O60243. |
| CleanEx | HS_HS6ST1. |
| Genevestigator | O60243. |
| GermOnline | ENSG00000136720. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR010635. Heparan_SO4-6-sulfoTrfase. IPR005331. Sulfotransferase. [Graphical view] |
| PANTHER | PTHR12812. PTHR12812. 1 hit. |
| Pfam | PF03567. Sulfotransfer_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | HS6ST1. human. |
| GenomeRNAi | 9394. |
| NextBio | 35195. |
| SOURCE | Search... |
Entry information
| Entry name | H6ST1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O60243 Secondary accession number(s): B4DEP2 Q9BVI1 | ||||||||
| Entry history |
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| 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 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| 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
