Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8IWU4

- ZNT8_HUMAN

UniProt

Q8IWU4 - ZNT8_HUMAN

Protein

Zinc transporter 8

Gene

SLC30A8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (10 Jun 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-efflux transporter. May be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta-cells.1 Publication

    GO - Molecular functioni

    1. protein homodimerization activity Source: BHF-UCL
    2. zinc ion binding Source: BHF-UCL
    3. zinc ion transmembrane transporter activity Source: BHF-UCL

    GO - Biological processi

    1. cellular zinc ion homeostasis Source: BHF-UCL
    2. insulin secretion Source: BHF-UCL
    3. positive regulation of insulin secretion Source: BHF-UCL
    4. regulation of sequestering of zinc ion Source: BHF-UCL
    5. regulation of vesicle-mediated transport Source: BHF-UCL
    6. response to glucose Source: BHF-UCL
    7. response to interferon-gamma Source: Ensembl
    8. response to interleukin-1 Source: Ensembl
    9. sequestering of zinc ion Source: BHF-UCL
    10. transmembrane transport Source: Reactome
    11. zinc ion transmembrane transport Source: GOC
    12. zinc ion transport Source: BHF-UCL

    Keywords - Biological processi

    Ion transport, Transport, Zinc transport

    Keywords - Ligandi

    Zinc

    Enzyme and pathway databases

    ReactomeiREACT_20582. Zinc efflux and compartmentalization by the SLC30 family.

    Protein family/group databases

    TCDBi2.A.4.3.5. the cation diffusion facilitator (cdf) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc transporter 8
    Short name:
    ZnT-8
    Alternative name(s):
    Solute carrier family 30 member 8
    Gene namesi
    Name:SLC30A8
    Synonyms:ZNT8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:20303. SLC30A8.

    Subcellular locationi

    Cell membrane Curated; Multi-pass membrane protein Curated. Cytoplasmic vesiclesecretory vesicle membrane Curated; Multi-pass membrane protein Curated
    Note: Associated with insulin and glucagon secretory granules.By similarity

    GO - Cellular componenti

    1. cytoplasmic membrane-bounded vesicle Source: BHF-UCL
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: BHF-UCL
    4. secretory granule Source: BHF-UCL
    5. secretory granule membrane Source: Reactome
    6. transport vesicle membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cytoplasmic vesicle, Membrane

    Pathology & Biotechi

    Keywords - Diseasei

    Diabetes mellitus

    Organism-specific databases

    MIMi125853. phenotype.
    PharmGKBiPA134915546.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 369369Zinc transporter 8PRO_0000281740Add
    BLAST

    Proteomic databases

    PaxDbiQ8IWU4.
    PRIDEiQ8IWU4.

    PTM databases

    PhosphoSiteiQ8IWU4.

    Expressioni

    Tissue specificityi

    In the endocrine pancreas, expressed in insulin-producing beta cells. Expressed at relatively high levels in subcutaneous fat tissue from lean persons; much lower levels in visceral fat, whether from lean or obese individuals, and in subcutaneous fat tissue from obese individuals. Expressed in peripheral blood mononuclear cells, including T-cells and B-cells, with great variation among individuals ranging from negative to strongly positive.5 Publications

    Gene expression databases

    ArrayExpressiQ8IWU4.
    BgeeiQ8IWU4.
    CleanExiHS_SLC30A8.
    GenevestigatoriQ8IWU4.

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Protein-protein interaction databases

    MINTiMINT-4722284.
    STRINGi9606.ENSP00000297345.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IWU4.
    SMRiQ8IWU4. Positions 73-170.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 7979CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini101 – 1033ExtracellularSequence Analysis
    Topological domaini125 – 14016CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini162 – 17514ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini197 – 21721CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini239 – 2457ExtracellularSequence Analysis
    Topological domaini267 – 369103CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei80 – 10021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei104 – 12421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei141 – 16121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei176 – 19621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei218 – 23821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei246 – 26621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi197 – 2059HXXXXX[HY]NH-motif

    Domaini

    Contains a histidine-rich region, HXXXXXHNH-motif, which is a ligand for zinc.By similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1230.
    HOGENOMiHOG000079023.
    HOVERGENiHBG003345.
    InParanoidiQ8IWU4.
    KOiK14695.
    OMAiVYLACER.
    OrthoDBiEOG7S4X68.
    PhylomeDBiQ8IWU4.
    TreeFamiTF313382.

    Family and domain databases

    Gene3Di1.20.1510.10. 1 hit.
    InterProiIPR002524. Cation_efflux.
    IPR027469. Cation_efflux_TMD.
    [Graphical view]
    PANTHERiPTHR11562. PTHR11562. 1 hit.
    PfamiPF01545. Cation_efflux. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR01297. CDF. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IWU4-1) [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

    MEFLERTYLV NDKAAKMYAF TLESVELQQK PVNKDQCPRE RPEELESGGM    50
    YHCHSGSKPT EKGANEYAYA KWKLCSASAI CFIFMIAEVV GGHIAGSLAV 100
    VTDAAHLLID LTSFLLSLFS LWLSSKPPSK RLTFGWHRAE ILGALLSILC 150
    IWVVTGVLVY LACERLLYPD YQIQATVMII VSSCAVAANI VLTVVLHQRC 200
    LGHNHKEVQA NASVRAAFVH ALGDLFQSIS VLISALIIYF KPEYKIADPI 250
    CTFIFSILVL ASTITILKDF SILLMEGVPK SLNYSGVKEL ILAVDGVLSV 300
    HSLHIWSLTM NQVILSAHVA TAASRDSQVV RREIAKALSK SFTMHSLTIQ 350
    MESPVDQDPD CLFCEDPCD 369
    Length:369
    Mass (Da):40,755
    Last modified:June 10, 2008 - v2
    Checksum:i45926FADCEE18FF3
    GO
    Isoform 2 (identifier: Q8IWU4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-49: Missing.

    Show »
    Length:320
    Mass (Da):35,053
    Checksum:i5D6EE4250AFD9492
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti18 – 181Y → H in AAM80562. (PubMed:15331542)Curated
    Sequence conflicti123 – 1231L → S in ABQ59023. (PubMed:17974005)Curated
    Sequence conflicti222 – 2221L → P in CAD28545. (PubMed:17974005)Curated
    Sequence conflicti302 – 3021S → C in CAD28545. (PubMed:17974005)Curated

    Polymorphismi

    Variant Trp-325 is a risk factor that confers susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM) [MIMi:125853].

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti325 – 3251R → Q.
    Corresponds to variant rs16889462 [ dbSNP | Ensembl ].
    VAR_031258
    Natural varianti325 – 3251R → W.1 Publication
    Corresponds to variant rs13266634 [ dbSNP | Ensembl ].
    VAR_031259

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4949Missing in isoform 2. 3 PublicationsVSP_024025Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY117411 mRNA. Translation: AAM80562.1.
    AK298294 mRNA. Translation: BAG60552.1.
    AL713790 mRNA. Translation: CAD28545.1.
    EF560713 mRNA. Translation: ABQ59023.1.
    AC027419 Genomic DNA. No translation available.
    AC084114 Genomic DNA. No translation available.
    CH471060 Genomic DNA. Translation: EAW91968.1.
    BC126446 mRNA. No translation available.
    CCDSiCCDS55272.1. [Q8IWU4-2]
    CCDS6322.1. [Q8IWU4-1]
    RefSeqiNP_001166282.1. NM_001172811.1. [Q8IWU4-2]
    NP_001166284.1. NM_001172813.1. [Q8IWU4-2]
    NP_001166285.1. NM_001172814.1. [Q8IWU4-2]
    NP_001166286.1. NM_001172815.1. [Q8IWU4-2]
    NP_776250.2. NM_173851.2. [Q8IWU4-1]
    UniGeneiHs.532270.

    Genome annotation databases

    EnsembliENST00000427715; ENSP00000407505; ENSG00000164756. [Q8IWU4-2]
    ENST00000456015; ENSP00000415011; ENSG00000164756. [Q8IWU4-1]
    ENST00000519688; ENSP00000431069; ENSG00000164756. [Q8IWU4-2]
    ENST00000521243; ENSP00000428545; ENSG00000164756. [Q8IWU4-2]
    GeneIDi169026.
    KEGGihsa:169026.
    UCSCiuc003yog.3. human. [Q8IWU4-1]

    Polymorphism databases

    DMDMi190358866.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY117411 mRNA. Translation: AAM80562.1 .
    AK298294 mRNA. Translation: BAG60552.1 .
    AL713790 mRNA. Translation: CAD28545.1 .
    EF560713 mRNA. Translation: ABQ59023.1 .
    AC027419 Genomic DNA. No translation available.
    AC084114 Genomic DNA. No translation available.
    CH471060 Genomic DNA. Translation: EAW91968.1 .
    BC126446 mRNA. No translation available.
    CCDSi CCDS55272.1. [Q8IWU4-2 ]
    CCDS6322.1. [Q8IWU4-1 ]
    RefSeqi NP_001166282.1. NM_001172811.1. [Q8IWU4-2 ]
    NP_001166284.1. NM_001172813.1. [Q8IWU4-2 ]
    NP_001166285.1. NM_001172814.1. [Q8IWU4-2 ]
    NP_001166286.1. NM_001172815.1. [Q8IWU4-2 ]
    NP_776250.2. NM_173851.2. [Q8IWU4-1 ]
    UniGenei Hs.532270.

    3D structure databases

    ProteinModelPortali Q8IWU4.
    SMRi Q8IWU4. Positions 73-170.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    MINTi MINT-4722284.
    STRINGi 9606.ENSP00000297345.

    Protein family/group databases

    TCDBi 2.A.4.3.5. the cation diffusion facilitator (cdf) family.

    PTM databases

    PhosphoSitei Q8IWU4.

    Polymorphism databases

    DMDMi 190358866.

    Proteomic databases

    PaxDbi Q8IWU4.
    PRIDEi Q8IWU4.

    Protocols and materials databases

    DNASUi 169026.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000427715 ; ENSP00000407505 ; ENSG00000164756 . [Q8IWU4-2 ]
    ENST00000456015 ; ENSP00000415011 ; ENSG00000164756 . [Q8IWU4-1 ]
    ENST00000519688 ; ENSP00000431069 ; ENSG00000164756 . [Q8IWU4-2 ]
    ENST00000521243 ; ENSP00000428545 ; ENSG00000164756 . [Q8IWU4-2 ]
    GeneIDi 169026.
    KEGGi hsa:169026.
    UCSCi uc003yog.3. human. [Q8IWU4-1 ]

    Organism-specific databases

    CTDi 169026.
    GeneCardsi GC08P117963.
    HGNCi HGNC:20303. SLC30A8.
    MIMi 125853. phenotype.
    611145. gene.
    neXtProti NX_Q8IWU4.
    PharmGKBi PA134915546.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1230.
    HOGENOMi HOG000079023.
    HOVERGENi HBG003345.
    InParanoidi Q8IWU4.
    KOi K14695.
    OMAi VYLACER.
    OrthoDBi EOG7S4X68.
    PhylomeDBi Q8IWU4.
    TreeFami TF313382.

    Enzyme and pathway databases

    Reactomei REACT_20582. Zinc efflux and compartmentalization by the SLC30 family.

    Miscellaneous databases

    GeneWikii SLC30A8.
    GenomeRNAii 169026.
    NextBioi 88780.
    PROi Q8IWU4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IWU4.
    Bgeei Q8IWU4.
    CleanExi HS_SLC30A8.
    Genevestigatori Q8IWU4.

    Family and domain databases

    Gene3Di 1.20.1510.10. 1 hit.
    InterProi IPR002524. Cation_efflux.
    IPR027469. Cation_efflux_TMD.
    [Graphical view ]
    PANTHERi PTHR11562. PTHR11562. 1 hit.
    Pfami PF01545. Cation_efflux. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR01297. CDF. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification and cloning of a beta-cell-specific zinc transporter, ZnT-8, localized into insulin secretory granules."
      Chimienti F., Devergnas S., Favier A., Seve M.
      Diabetes 53:2330-2337(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
      Tissue: Pancreas.
    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).
      Tissue: Kidney.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Amygdala and Brain.
    4. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. 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 2).
      Tissue: Lung.
    7. "ZnT-8, a pancreatic beta-cell-specific zinc transporter."
      Chimienti F., Favier A., Seve M.
      BioMetals 18:313-317(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. "In vivo expression and functional characterization of the zinc transporter ZnT8 in glucose-induced insulin secretion."
      Chimienti F., Devergnas S., Pattou F., Schuit F., Garcia-Cuenca R., Vandewalle B., Kerr-Conte J., Van Lommel L., Grunwald D., Favier A., Seve M.
      J. Cell Sci. 119:4199-4206(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, FUNCTION.
    9. "Zinc-transporter genes in human visceral and subcutaneous adipocytes: lean versus obese."
      Smidt K., Pedersen S.B., Brock B., Schmitz O., Fisker S., Bendix J., Wogensen L., Rungby J.
      Mol. Cell. Endocrinol. 264:68-73(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    10. "Intracellular zinc homeostasis in leukocyte subsets is regulated by different expression of zinc exporters ZnT-1 to ZnT-9."
      Overbeck S., Uciechowski P., Ackland M.L., Ford D., Rink L.
      J. Leukoc. Biol. 83:368-380(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    11. Cited for: VARIANT TRP-325, INVOLVEMENT IN NONINSULIN-DEPENDENT DIABETES MELLITUS.

    Entry informationi

    Entry nameiZNT8_HUMAN
    AccessioniPrimary (citable) accession number: Q8IWU4
    Secondary accession number(s): A0AVP9
    , A5YM39, B4DPE0, Q8TCL3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: June 10, 2008
    Last modified: October 1, 2014
    This is version 95 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: 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