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O60243

- H6ST1_HUMAN

UniProt

O60243 - H6ST1_HUMAN

Protein

Heparan-sulfate 6-O-sulfotransferase 1

Gene

HS6ST1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 5 (05 May 2009)
      Previous versions | rss
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    Functioni

    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. Critical for normal neuronal development where it may play a role in neuron branching. May also play a role in limb development. May prefer iduronic acid.1 Publication

    Catalytic activityi

    3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate + [heparan sulfate]-glucosamine 6-sulfate.

    GO - Molecular functioni

    1. sulfotransferase activity Source: ProtInc

    GO - Biological processi

    1. angiogenesis Source: Ensembl
    2. carbohydrate metabolic process Source: Reactome
    3. glycosaminoglycan biosynthetic process Source: Reactome
    4. glycosaminoglycan metabolic process Source: Reactome
    5. heparan sulfate proteoglycan biosynthetic process, enzymatic modification Source: ProtInc
    6. labyrinthine layer blood vessel development Source: Ensembl
    7. lung alveolus development Source: Ensembl
    8. neuron development Source: UniProtKB
    9. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Transferase

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000136720-MONOMER.
    ReactomeiREACT_121248. HS-GAG biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Heparan-sulfate 6-O-sulfotransferase 1 (EC:2.8.2.-)
    Short name:
    HS6ST-1
    Gene namesi
    Name:HS6ST1
    Synonyms:HS6ST
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:5201. HS6ST1.

    Subcellular locationi

    GO - Cellular componenti

    1. Golgi membrane Source: Reactome
    2. integral component of plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).1 Publication
    Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti306 – 3061R → Q in HH15; 15 to 30% reduction in enzymatic activity compared to wild-type. 1 Publication
    VAR_069283
    Natural varianti306 – 3061R → W in HH15; with anosmia; results in Kallmann syndrome in the presence of FGFR1 mutation Gln-250; approximately 50% reduction in enzymatic activity compared to wild-type. 1 Publication
    VAR_069284
    Natural varianti323 – 3231R → Q in HH15; approximately 30% reduction in enzymatic activity compared to wild-type when heparan sulfate is the acceptor substrate. 1 Publication
    VAR_069285
    Natural varianti382 – 3821R → W in HH15; with or without anosmia; results in Kallmann syndrome in the presence of NSMF mutation Ala-480; 25 to 35% reduction in enzymatic activity compared to wild-type. 1 Publication
    VAR_069286
    Natural varianti404 – 4041M → V in HH15; with anosmia; 30 to 70% reduction in enzymatic activity compared to wild-type. 1 Publication
    VAR_069287

    Keywords - Diseasei

    Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

    Organism-specific databases

    MIMi614880. phenotype.
    Orphaneti478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBiPA35102.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 411411Heparan-sulfate 6-O-sulfotransferase 1PRO_0000190801Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi264 – 2641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi320 – 3201N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.By similarity

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiO60243.
    PRIDEiO60243.

    PTM databases

    PhosphoSiteiO60243.

    Expressioni

    Tissue specificityi

    Expressed in fetal brain.1 Publication

    Gene expression databases

    ArrayExpressiO60243.
    BgeeiO60243.
    CleanExiHS_HS6ST1.
    GenevestigatoriO60243.

    Organism-specific databases

    HPAiHPA044586.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000259241.

    Structurei

    3D structure databases

    ProteinModelPortaliO60243.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini11 – 177CytoplasmicSequence Analysis
    Topological domaini38 – 411374LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei18 – 3720Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni96 – 10275'-phosphosulfate-bindingSequence Analysis
    Regioni185 – 19393'-phosphate bindingSequence Analysis

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili352 – 38736Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi2 – 54Poly-Arg

    Sequence similaritiesi

    Belongs to the sulfotransferase 6 family.Curated

    Keywords - Domaini

    Coiled coil, Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG302961.
    HOGENOMiHOG000007772.
    HOVERGENiHBG083012.
    InParanoidiO60243.
    KOiK02514.
    OMAiPTEDYMN.
    OrthoDBiEOG75MVW3.
    PhylomeDBiO60243.
    TreeFamiTF312835.

    Family and domain databases

    InterProiIPR010635. Heparan_SO4-6-sulfoTrfase.
    IPR027417. P-loop_NTPase.
    IPR005331. Sulfotransferase.
    [Graphical view]
    PANTHERiPTHR12812. PTHR12812. 1 hit.
    PfamiPF03567. Sulfotransfer_2. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O60243-1) [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

    MRRRRAGGRT MVERASKFVL VVAGSVCFML ILYQYAGPGL SLGAPGGRAP    50
    PDDLDLFPTP DPHYEKKYYF PVRELERSLR FDMKGDDVIV FLHIQKTGGT 100
    TFGRHLVQNV RLEVPCDCRP GQKKCTCYRP NRRETWLFSR FSTGWSCGLH 150
    ADWTELTNCV PGVLDRRDSA ALRTPRKFYY ITLLRDPVSR YLSEWRHVQR 200
    GATWKTSLHM CDGRTPTPEE LPPCYEGTDW SGCTLQEFMD CPYNLANNRQ 250
    VRMLADLSLV GCYNLSFIPE GKRAQLLLES AKKNLRGMAF FGLTEFQRKT 300
    QYLFERTFNL KFIRPFMQYN STRAGGVEVD EDTIRRIEEL NDLDMQLYDY 350
    AKDLFQQRYQ YKRQLERREQ RLRSREERLL HRAKEALPRE DADEPGRVPT 400
    EDYMSHIIEK W 411
    Length:411
    Mass (Da):48,226
    Last modified:May 5, 2009 - v5
    Checksum:iFCBF7AFAF1F3325D
    GO
    Isoform 2 (identifier: O60243-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-162: Missing.
         163-175: VLDRRDSAALRTP → MFSWCLWPVVGES

    Note: No experimental confirmation available.

    Show »
    Length:249
    Mass (Da):29,870
    Checksum:i8579B4F4EE555A99
    GO

    Sequence cautioni

    The sequence BAA25760.1 differs from that shown. Reason: Frameshift at positions 5 and 7.
    The sequence AAY14736.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA25760.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAG57153.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti55 – 551D → Y in BAA25760. (PubMed:9535912)Curated
    Sequence conflicti191 – 1911Y → C in BAG57153. (PubMed:14702039)Curated
    Sequence conflicti255 – 2551A → T in BAG57153. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti306 – 3061R → Q in HH15; 15 to 30% reduction in enzymatic activity compared to wild-type. 1 Publication
    VAR_069283
    Natural varianti306 – 3061R → W in HH15; with anosmia; results in Kallmann syndrome in the presence of FGFR1 mutation Gln-250; approximately 50% reduction in enzymatic activity compared to wild-type. 1 Publication
    VAR_069284
    Natural varianti323 – 3231R → Q in HH15; approximately 30% reduction in enzymatic activity compared to wild-type when heparan sulfate is the acceptor substrate. 1 Publication
    VAR_069285
    Natural varianti382 – 3821R → W in HH15; with or without anosmia; results in Kallmann syndrome in the presence of NSMF mutation Ala-480; 25 to 35% reduction in enzymatic activity compared to wild-type. 1 Publication
    VAR_069286
    Natural varianti404 – 4041M → V in HH15; with anosmia; 30 to 70% reduction in enzymatic activity compared to wild-type. 1 Publication
    VAR_069287

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 162162Missing in isoform 2. 1 PublicationVSP_037048Add
    BLAST
    Alternative sequencei163 – 17513VLDRR…ALRTP → MFSWCLWPVVGES in isoform 2. 1 PublicationVSP_037049Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS42748.1. [O60243-1]
    RefSeqiNP_004798.3. NM_004807.2. [O60243-1]
    UniGeneiHs.512841.

    Genome annotation databases

    EnsembliENST00000259241; ENSP00000259241; ENSG00000136720. [O60243-1]
    GeneIDi9394.
    KEGGihsa:9394.
    UCSCiuc002tpt.4. human. [O60243-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS42748.1. [O60243-1 ]
    RefSeqi NP_004798.3. NM_004807.2. [O60243-1 ]
    UniGenei Hs.512841.

    3D structure databases

    ProteinModelPortali O60243.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000259241.

    PTM databases

    PhosphoSitei O60243.

    Proteomic databases

    PaxDbi O60243.
    PRIDEi O60243.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000259241 ; ENSP00000259241 ; ENSG00000136720 . [O60243-1 ]
    GeneIDi 9394.
    KEGGi hsa:9394.
    UCSCi uc002tpt.4. human. [O60243-1 ]

    Organism-specific databases

    CTDi 9394.
    GeneCardsi GC02M128929.
    HGNCi HGNC:5201. HS6ST1.
    HPAi HPA044586.
    MIMi 604846. gene.
    614880. phenotype.
    neXtProti NX_O60243.
    Orphaneti 478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBi PA35102.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG302961.
    HOGENOMi HOG000007772.
    HOVERGENi HBG083012.
    InParanoidi O60243.
    KOi K02514.
    OMAi PTEDYMN.
    OrthoDBi EOG75MVW3.
    PhylomeDBi O60243.
    TreeFami TF312835.

    Enzyme and pathway databases

    BioCyci MetaCyc:ENSG00000136720-MONOMER.
    Reactomei REACT_121248. HS-GAG biosynthesis.

    Miscellaneous databases

    ChiTaRSi HS6ST1. human.
    GenomeRNAii 9394.
    NextBioi 35195.
    PROi O60243.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60243.
    Bgeei O60243.
    CleanExi HS_HS6ST1.
    Genevestigatori O60243.

    Family and domain databases

    InterProi IPR010635. Heparan_SO4-6-sulfoTrfase.
    IPR027417. P-loop_NTPase.
    IPR005331. Sulfotransferase.
    [Graphical view ]
    PANTHERi PTHR12812. PTHR12812. 1 hit.
    Pfami PF03567. Sulfotransfer_2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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.
      , 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] (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.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.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.
    5. "Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism."
      Tornberg J., Sykiotis G.P., Keefe K., Plummer L., Hoang X., Hall J.E., Quinton R., Seminara S.B., Hughes V., Van Vliet G., Van Uum S., Crowley W.F., Habuchi H., Kimata K., Pitteloud N., Bulow H.E.
      Proc. Natl. Acad. Sci. U.S.A. 108:11524-11529(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, VARIANTS HH15 TRP-306; GLN-306; GLN-323; TRP-382 AND VAL-404, CHARACTERIZATION OF VARIANTS HH15 TRP-306; GLN-306; GLN-323; TRP-382 AND VAL-404.

    Entry informationi

    Entry nameiH6ST1_HUMAN
    AccessioniPrimary (citable) accession number: O60243
    Secondary accession number(s): B4DEP2
    , B4DJ29, Q53SL2, Q9BVI1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 11, 2005
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 104 of the entry and version 5 of the sequence. [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

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3