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P19224

- UD16_HUMAN

UniProt

P19224 - UD16_HUMAN

Protein

UDP-glucuronosyltransferase 1-6

Gene

UGT1A6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 2 (11 Apr 2003)
      Previous versions | rss
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    Functioni

    UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 By similarity.By similarity

    Catalytic activityi

    UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.

    GO - Molecular functioni

    1. enzyme binding Source: BHF-UCL
    2. glucuronosyltransferase activity Source: UniProt
    3. protein heterodimerization activity Source: UniProt
    4. protein homodimerization activity Source: UniProt

    GO - Biological processi

    1. cellular glucuronidation Source: UniProt
    2. small molecule metabolic process Source: Reactome
    3. xenobiotic metabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_6784. Glucuronidation.
    SABIO-RKP19224.

    Protein family/group databases

    CAZyiGT1. Glycosyltransferase Family 1.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UDP-glucuronosyltransferase 1-6 (EC:2.4.1.17)
    Short name:
    UDPGT 1-6
    Short name:
    UGT1*6
    Short name:
    UGT1-06
    Short name:
    UGT1.6
    Alternative name(s):
    Phenol-metabolizing UDP-glucuronosyltransferase
    UDP-glucuronosyltransferase 1-F
    Short name:
    UGT-1F
    Short name:
    UGT1F
    UDP-glucuronosyltransferase 1A6
    Gene namesi
    Name:UGT1A6
    Synonyms:GNT1, UGT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:12538. UGT1A6.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProt
    2. endoplasmic reticulum membrane Source: Reactome
    3. extracellular vesicular exosome Source: UniProt
    4. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37181.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2626Sequence AnalysisAdd
    BLAST
    Chaini27 – 532506UDP-glucuronosyltransferase 1-6PRO_0000036005Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi294 – 2941N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi346 – 3461N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiP19224.
    PaxDbiP19224.
    PRIDEiP19224.

    PTM databases

    PhosphoSiteiP19224.

    Expressioni

    Tissue specificityi

    Expressed in skin. Isoforms 1 and 3 are expressed in kidney and liver. Isoform 1 but not isoform 2 is expressed in colon, esophagus and small intestine.2 Publications

    Gene expression databases

    BgeeiP19224.
    GenevestigatoriP19224.

    Organism-specific databases

    HPAiCAB009819.

    Interactioni

    Subunit structurei

    Isoform 1 interacts with isoform 3/i2 suggesting that oligomerization is involved in negative regulation of transferase activity by isoform 3. Isoform 1 also interacts with respective i2 isoforms of UGT1A1, UGT1A3, UGT1A4, UGT1A7, UGT1A8, UGT1A9 and UGT1A10.1 Publication

    Protein-protein interaction databases

    IntActiP19224. 7 interactions.
    STRINGi9606.ENSP00000303174.

    Structurei

    3D structure databases

    ProteinModelPortaliP19224.
    SMRiP19224. Positions 228-443.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei490 – 50617HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the UDP-glycosyltransferase family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1819.
    HOGENOMiHOG000220832.
    HOVERGENiHBG004033.
    KOiK00699.
    OMAiLKESKHY.
    OrthoDBiEOG78H3T2.
    PhylomeDBiP19224.
    TreeFamiTF315472.

    Family and domain databases

    InterProiIPR002213. UDP_glucos_trans.
    [Graphical view]
    PANTHERiPTHR11926. PTHR11926. 1 hit.
    PfamiPF00201. UDPGT. 1 hit.
    [Graphical view]
    PROSITEiPS00375. UDPGT. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P19224-1) [UniParc]FASTAAdd to Basket

    Also known as: i1

    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

    MACLLRSFQR ISAGVFFLAL WGMVVGDKLL VVPQDGSHWL SMKDIVEVLS    50
    DRGHEIVVVV PEVNLLLKES KYYTRKIYPV PYDQEELKNR YQSFGNNHFA 100
    ERSFLTAPQT EYRNNMIVIG LYFINCQSLL QDRDTLNFFK ESKFDALFTD 150
    PALPCGVILA EYLGLPSVYL FRGFPCSLEH TFSRSPDPVS YIPRCYTKFS 200
    DHMTFSQRVA NFLVNLLEPY LFYCLFSKYE ELASAVLKRD VDIITLYQKV 250
    SVWLLRYDFV LEYPRPVMPN MVFIGGINCK KRKDLSQEFE AYINASGEHG 300
    IVVFSLGSMV SEIPEKKAMA IADALGKIPQ TVLWRYTGTR PSNLANNTIL 350
    VKWLPQNDLL GHPMTRAFIT HAGSHGVYES ICNGVPMVMM PLFGDQMDNA 400
    KRMETKGAGV TLNVLEMTSE DLENALKAVI NDKSYKENIM RLSSLHKDRP 450
    VEPLDLAVFW VEFVMRHKGA PHLRPAAHDL TWYQYHSLDV IGFLLAVVLT 500
    VAFITFKCCA YGYRKCLGKK GRVKKAHKSK TH 532
    Length:532
    Mass (Da):60,751
    Last modified:April 11, 2003 - v2
    Checksum:i4A9EA6A88CBC3136
    GO
    Isoform 2 (identifier: P19224-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-267: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:265
    Mass (Da):29,647
    Checksum:iC0DEE8F8EC498CFD
    GO
    Isoform 3 (identifier: P19224-3) [UniParc]FASTAAdd to Basket

    Also known as: i2, UGT1A6s

    The sequence of this isoform differs from the canonical sequence as follows:
         434-532: SYKENIMRLS...VKKAHKSKTH → RKKQQSGRQM

    Show »
    Length:443
    Mass (Da):50,528
    Checksum:iD49A8F5D16A09EDD
    GO

    Sequence cautioni

    The sequence BM924331 differs from that shown. Reason: Probable cloning artifact.
    The sequence BM924331 differs from that shown. Reason: Frameshift at positions 451 and 463.
    The sequence BM924331 differs from that shown. Reason: Erroneous termination at position 420. Translated as Glu.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti231 – 2311E → K in AAA61251. (PubMed:1339448)Curated
    Sequence conflicti247 – 2493YQK → SE in AAA61251. (PubMed:1339448)Curated
    Sequence conflicti328 – 3281I → N in AAA61251. (PubMed:1339448)Curated
    Sequence conflicti419 – 4191S → F in BM924331. (PubMed:15489334)Curated
    Sequence conflicti446 – 4461H → S in BM924331. (PubMed:15489334)Curated
    Sequence conflicti468 – 4681K → Q in BM924331. (PubMed:15489334)Curated
    Sequence conflicti476 – 4772AA → GS in BM924331. (PubMed:15489334)Curated
    Sequence conflicti514 – 5141R → P in AAA61251. (PubMed:1339448)Curated

    Polymorphismi

    Polymorphisms in the UGT1A6 gene define four common haplotypes: UGT1A6*1, UGT1A6*2, UGT1A6*3 and UGT1A6*4. Liver tissue samples that were homozygous for UGT1A6*2 exhibited a high rate of glucuronidation relative to tissues with other genotypes. Biochemical kinetic studies indicate that the UGT1A6*2 allozyme, expressed homozygously, had almost two-fold greater activity toward p-nitrophenol than UGT1A6*1 and when expressed heterozygously (UGT1A6*1/*2) it is associated with low enzyme activity. Common genetic variation in UGT1A6 confers functionally significant differences in biochemical phenotype. This genetic variation might impact clinical efficacy or toxicity of drugs metabolized by UGT1A6.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71S → A in allele UGT1A6*2, allele UGT1A6*3 and allele UGT1A6*4. 1 Publication
    Corresponds to variant rs6759892 [ dbSNP | Ensembl ].
    VAR_024685
    Natural varianti70 – 701S → Y.1 Publication
    Corresponds to variant rs1042708 [ dbSNP | Ensembl ].
    VAR_026628
    Natural varianti181 – 1811T → A in allele UGT1A6*2. 4 Publications
    Corresponds to variant rs2070959 [ dbSNP | Ensembl ].
    VAR_014784
    Natural varianti184 – 1841R → S in allele UGT1A6*2 and allele UGT1A6*4. 4 Publications
    Corresponds to variant rs1105879 [ dbSNP | Ensembl ].
    VAR_015559
    Natural varianti510 – 5101A → P.1 Publication
    Corresponds to variant rs1042709 [ dbSNP | Ensembl ].
    VAR_026629

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 267267Missing in isoform 2. 1 PublicationVSP_045779Add
    BLAST
    Alternative sequencei434 – 53299SYKEN…KSKTH → RKKQQSGRQM in isoform 3. 1 PublicationVSP_053962Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M84130 Genomic DNA. Translation: AAC41717.1.
    M84124, M84122, M84123 Genomic DNA. Translation: AAA61247.1. Sequence problems.
    J04093 mRNA. Translation: AAA61251.1.
    AF297093 Genomic DNA. Translation: AAG30420.1.
    DQ364250 mRNA. Translation: ABC96774.1.
    AC006985 Genomic DNA. No translation available.
    AC114812 Genomic DNA. No translation available.
    BM924331 mRNA. No translation available.
    AF014112 Genomic DNA. Translation: AAB87411.1.
    CCDSiCCDS2507.1. [P19224-1]
    CCDS2508.1. [P19224-2]
    PIRiA31340.
    RefSeqiNP_001063.2. NM_001072.3. [P19224-1]
    UniGeneiHs.554822.

    Genome annotation databases

    EnsembliENST00000305139; ENSP00000303174; ENSG00000167165. [P19224-1]
    ENST00000373424; ENSP00000362523; ENSG00000167165. [P19224-2]
    GeneIDi54578.
    KEGGihsa:54578.
    UCSCiuc002vuv.4. human. [P19224-1]

    Polymorphism databases

    DMDMi29840832.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M84130 Genomic DNA. Translation: AAC41717.1 .
    M84124 , M84122 , M84123 Genomic DNA. Translation: AAA61247.1 . Sequence problems.
    J04093 mRNA. Translation: AAA61251.1 .
    AF297093 Genomic DNA. Translation: AAG30420.1 .
    DQ364250 mRNA. Translation: ABC96774.1 .
    AC006985 Genomic DNA. No translation available.
    AC114812 Genomic DNA. No translation available.
    BM924331 mRNA. No translation available.
    AF014112 Genomic DNA. Translation: AAB87411.1 .
    CCDSi CCDS2507.1. [P19224-1 ]
    CCDS2508.1. [P19224-2 ]
    PIRi A31340.
    RefSeqi NP_001063.2. NM_001072.3. [P19224-1 ]
    UniGenei Hs.554822.

    3D structure databases

    ProteinModelPortali P19224.
    SMRi P19224. Positions 228-443.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi P19224. 7 interactions.
    STRINGi 9606.ENSP00000303174.

    Chemistry

    BindingDBi P19224.
    ChEMBLi CHEMBL1743316.

    Protein family/group databases

    CAZyi GT1. Glycosyltransferase Family 1.

    PTM databases

    PhosphoSitei P19224.

    Polymorphism databases

    DMDMi 29840832.

    Proteomic databases

    MaxQBi P19224.
    PaxDbi P19224.
    PRIDEi P19224.

    Protocols and materials databases

    DNASUi 54578.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000305139 ; ENSP00000303174 ; ENSG00000167165 . [P19224-1 ]
    ENST00000373424 ; ENSP00000362523 ; ENSG00000167165 . [P19224-2 ]
    GeneIDi 54578.
    KEGGi hsa:54578.
    UCSCi uc002vuv.4. human. [P19224-1 ]

    Organism-specific databases

    CTDi 54578.
    GeneCardsi GC02P234600.
    HGNCi HGNC:12538. UGT1A6.
    HPAi CAB009819.
    MIMi 191740. gene.
    606431. gene.
    neXtProti NX_P19224.
    PharmGKBi PA37181.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1819.
    HOGENOMi HOG000220832.
    HOVERGENi HBG004033.
    KOi K00699.
    OMAi LKESKHY.
    OrthoDBi EOG78H3T2.
    PhylomeDBi P19224.
    TreeFami TF315472.

    Enzyme and pathway databases

    Reactomei REACT_6784. Glucuronidation.
    SABIO-RK P19224.

    Miscellaneous databases

    GeneWikii UGT1A6.
    GenomeRNAii 54578.
    NextBioi 35481513.
    PROi P19224.
    SOURCEi Search...

    Gene expression databases

    Bgeei P19224.
    Genevestigatori P19224.

    Family and domain databases

    InterProi IPR002213. UDP_glucos_trans.
    [Graphical view ]
    PANTHERi PTHR11926. PTHR11926. 1 hit.
    Pfami PF00201. UDPGT. 1 hit.
    [Graphical view ]
    PROSITEi PS00375. UDPGT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini."
      Ritter J.K., Chen F., Sheen Y.Y., Tran H.M., Kimura S., Yeatman M.T., Owens I.S.
      J. Biol. Chem. 267:3257-3261(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, VARIANTS TYR-70 AND PRO-510.
    2. "Cloning and substrate specificity of a human phenol UDP-glucuronosyltransferase expressed in COS-7 cells."
      Harding D., Fournel-Gigleux S., Jackson M.R., Burchell B.
      Proc. Natl. Acad. Sci. U.S.A. 85:8381-8385(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    3. "Thirteen UDP-glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus."
      Gong Q.H., Cho J.W., Huang T., Potter C., Gholami N., Basu N.K., Kubota S., Carvalho S., Pennington M.W., Owens I.S., Popescu N.C.
      Pharmacogenetics 11:357-368(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. Guillemette C., Levesque E., Girard H., Bernard O.
      Submitted (JAN-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), VARIANTS ALA-181 AND SER-184.
    5. "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].
    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] OF 1-488 (ISOFORM 2).
    7. "Aryl hydrocarbon receptor-inducible or constitutive expression of human UDP glucuronosyltransferase UGT1A6."
      Muenzel P.A., Lehmkoester T., Brueck M., Ritter J.K., Bock K.W.
      Arch. Biochem. Biophys. 350:72-78(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-33.
    8. "Genetic diversity at the UGT1 locus is amplified by a novel 3' alternative splicing mechanism leading to nine additional UGT1A proteins that act as regulators of glucuronidation activity."
      Girard H., Levesque E., Bellemare J., Journault K., Caillier B., Guillemette C.
      Pharmacogenet. Genomics 17:1077-1089(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    9. "Alternatively spliced products of the UGT1A gene interact with the enzymatically active proteins to inhibit glucuronosyltransferase activity in vitro."
      Bellemare J., Rouleau M., Girard H., Harvey M., Guillemette C.
      Drug Metab. Dispos. 38:1785-1789(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT.
    10. "Genetic polymorphism in the human UGT1A6 (planar phenol) UDP-glucuronosyltransferase: pharmacological implications."
      Ciotti M., Marrone A., Potter C., Owens I.S.
      Pharmacogenetics 7:485-495(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALA-181 AND SER-184.
    11. "Human UGT1A6 pharmacogenetics: identification of a novel SNP, characterization of allele frequencies and functional analysis of recombinant allozymes in human liver tissue and in cultured cells."
      Nagar S., Zalatoris J.J., Blanchard R.L.
      Pharmacogenetics 14:487-499(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALA-7; ALA-181 AND SER-184.
    12. "Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population."
      Menard V., Girard H., Harvey M., Perusse L., Guillemette C.
      Hum. Mutat. 30:677-687(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALA-181 AND SER-184.

    Entry informationi

    Entry nameiUD16_HUMAN
    AccessioniPrimary (citable) accession number: P19224
    Secondary accession number(s): A6NKK6, B8K289, Q96TE7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1990
    Last sequence update: April 11, 2003
    Last modified: October 1, 2014
    This is version 141 of the entry and version 2 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

    Miscellaneous

    The gene is part of the UGT1A complex locus which displays alternative use of promoters, first exons and terminal exons. The locus is defined by 13 first exons, which are alternatively spliced to 3 other common exons and 2 alternative terminal exons 5. From the 27 possible mRNA isoforms, 9 produce functionally active polypeptides (UGT1A1, 1A3, 1A4, 1A5, 1A6, 1A7, 1A8, 1A9 and 1A10) called isoforms 1 (i1). Use of an alternative exon 5 (5b) as terminal exon is leading to 9 additional alternatively spliced products termed isoforms i2 and which lack transferase activity.

    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