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Q8ND04

- SMG8_HUMAN

UniProt

Q8ND04 - SMG8_HUMAN

Protein

Protein SMG8

Gene

SMG8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. gene expression Source: Reactome
    2. mRNA metabolic process Source: Reactome
    3. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: UniProtKB
    4. regulation of protein kinase activity Source: UniProtKB
    5. RNA metabolic process Source: Reactome

    Keywords - Biological processi

    Nonsense-mediated mRNA decay

    Enzyme and pathway databases

    ReactomeiREACT_75822. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein SMG8
    Alternative name(s):
    Amplified in breast cancer gene 2 protein
    Protein smg-8 homolog
    Gene namesi
    Name:SMG8
    Synonyms:ABC2, C17orf71
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:25551. SMG8.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672219.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 991991Protein SMG8PRO_0000304974Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei469 – 4691Phosphoserine2 Publications
    Modified residuei668 – 6681Phosphoserine2 Publications

    Post-translational modificationi

    Phosphorylated by SMG1.3 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8ND04.
    PaxDbiQ8ND04.
    PRIDEiQ8ND04.

    PTM databases

    PhosphoSiteiQ8ND04.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8ND04.
    BgeeiQ8ND04.
    CleanExiHS_C17orf71.
    GenevestigatoriQ8ND04.

    Organism-specific databases

    HPAiHPA024841.

    Interactioni

    Subunit structurei

    Component of the SMG1C complex composed of SMG1, SMG8 and SMG9; the recruitment of SMG8 to SMG1 N-terminus induces a large conformational change in the SMG1 C-terminal head domain containing the catalytic domain. Forms heterodimers with SMG9; this assembly form may represent a SMG1C intermediate form.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SMG9Q9H0W84EBI-3903643,EBI-2872322

    Protein-protein interaction databases

    BioGridi120480. 6 interactions.
    IntActiQ8ND04. 4 interactions.
    STRINGi9606.ENSP00000300917.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8ND04.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the SMG8 family.Curated

    Phylogenomic databases

    eggNOGiNOG253733.
    HOGENOMiHOG000154346.
    InParanoidiQ8ND04.
    OMAiHKFHLLP.
    OrthoDBiEOG7S4X5N.
    PhylomeDBiQ8ND04.
    TreeFamiTF323445.

    Family and domain databases

    InterProiIPR028802. SMG8.
    IPR019354. Smg8/Smg9.
    [Graphical view]
    PANTHERiPTHR13091:SF0. PTHR13091:SF0. 1 hit.
    PfamiPF10220. DUF2146. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8ND04-1) [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

    MAGPVSLRDL LMGASAWMGS ESPGGSPTEG GGSAAGGPEP PWREDEICVV    50
    GIFGKTALRL NSEKFSLVNT VCDRQVFPLF RHQDPGDPGP GIRTEAGAVG 100
    EAGGAEDPGA AAGGSVRGSG AVAEGNRTEA GSQDYSLLQA YYSQESKVLY 150
    LLLTSICDNS QLLRACRALQ SGEAGGGLSL PHAEAHEFWK HQEKLQCLSL 200
    LYLFSVCHIL LLVHPTCSFD ITYDRVFRAL DGLRQKVLPL LKTAIKDCPV 250
    GKDWKLNCRP CPPRLLFLFQ LNGALKVEPP RNQDPAHPDK PKKHSPKRRL 300
    QHALEDQIYR IFRKSRVLTN QSINCLFTVP ANQAFVYIVP GSQEEDPVGM 350
    LLDQLRSHCT VKDPESLLVP APLSGPRRYQ VMRQHSRQQL SFHIDSSSSS 400
    SSGQLVDFTL REFLWQHVEL VLSKKGFDDS VGRNPQPSHF ELPTYQKWIS 450
    AASKLYEVAI DGKEEDLGSP TGELTSKILS SIKVLEGFLD IDTKFSENRC 500
    QKALPMAHSA YQSNLPHNYT MTVHKNQLAQ ALRVYSQHAR GPAFHKYAMQ 550
    LHEDCYKFWS NGHQLCEERS LTDQHCVHKF HSLPKSGEKP EADRNPPVLY 600
    HNSRARSTGA CNCGRKQAPR DDPFDIKAAN YDFYQLLEEK CCGKLDHINF 650
    PVFEPSTPDP APAKNESSPA PPDSDADKLK EKEPQTQGES TSLSLALSLG 700
    QSTDSLGTYP ADPQAGGDNP EVHGQVEVKT EKRPNFVDRQ ASTVEYLPGM 750
    LHSNCPKGLL PKFSSWSLVK LGPAKSYNFH TGLDQQGFIP GTNYLMPWDI 800
    VIRTRAEDEG DLDTNSWPAP NKAIPGKRSA VVMGRGRRRD DIARAFVGFE 850
    YEDSRGRRFM CSGPDKVMKV MGSGPKESAL KALNSDMPLY ILSSSQGRGL 900
    KPHYAQLMRL FVVVPDAPLQ IILMPQVQPG PPPCPVFYPE KQEITLPPDG 950
    LWVLRFPYAY VTERGPCFPP KENVQLMSYK VLRGVLKAVT Q 991
    Length:991
    Mass (Da):109,684
    Last modified:October 1, 2002 - v1
    Checksum:i9D8168B171179CFF
    GO
    Isoform 2 (identifier: Q8ND04-2) [UniParc]FASTAAdd to Basket

    Also known as: ABC2

    The sequence of this isoform differs from the canonical sequence as follows:
         945-945: T → TLPPDGLWVLRFPYAYGLREDLVSPXGKKQEIP

    Show »
    Length:1,023
    Mass (Da):113,332
    Checksum:i0A57F66C4D7DEEDC
    GO
    Isoform 3 (identifier: Q8ND04-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         588-588: E → S
         589-991: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:588
    Mass (Da):65,088
    Checksum:i25C593B6499D91B8
    GO

    Sequence cautioni

    The sequence AAH20957.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA91699.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti278 – 2781E → V in BAB15576. (PubMed:14702039)Curated
    Sequence conflicti411 – 4111R → W in BAB15576. (PubMed:14702039)Curated
    Sequence conflicti488 – 4881F → L in AAL83913. 1 PublicationCurated
    Sequence conflicti491 – 4911I → F in AAL83913. 1 PublicationCurated
    Sequence conflicti493 – 4931T → P in AAL83913. 1 PublicationCurated
    Sequence conflicti520 – 5201T → P in AAL83913. 1 PublicationCurated
    Sequence conflicti522 – 5221T → P in AAL83913. 1 PublicationCurated
    Sequence conflicti532 – 5321L → R in AAL83913. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti280 – 2801P → L.
    Corresponds to variant rs8068240 [ dbSNP | Ensembl ].
    VAR_035137

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei588 – 5881E → S in isoform 3. 1 PublicationVSP_028164
    Alternative sequencei589 – 991403Missing in isoform 3. 1 PublicationVSP_028165Add
    BLAST
    Alternative sequencei945 – 9451T → TLPPDGLWVLRFPYAYGLRE DLVSPXGKKQEIP in isoform 2. 1 PublicationVSP_028166

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF349467 mRNA. Translation: AAL83913.1.
    AK001449 mRNA. Translation: BAA91699.1. Different initiation.
    AK026858 mRNA. Translation: BAB15576.1.
    AL834490 mRNA. Translation: CAD39148.1.
    AC099850 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94415.1.
    BC020957 mRNA. Translation: AAH20957.1. Different initiation.
    BC031604 mRNA. Translation: AAH31604.1.
    CCDSiCCDS11615.1. [Q8ND04-1]
    RefSeqiNP_060619.4. NM_018149.6. [Q8ND04-1]
    UniGeneiHs.7296.

    Genome annotation databases

    EnsembliENST00000300917; ENSP00000300917; ENSG00000167447. [Q8ND04-1]
    ENST00000543872; ENSP00000438748; ENSG00000167447. [Q8ND04-1]
    ENST00000578922; ENSP00000462119; ENSG00000167447. [Q8ND04-3]
    GeneIDi55181.
    KEGGihsa:55181.
    UCSCiuc002ixi.3. human. [Q8ND04-1]

    Polymorphism databases

    DMDMi74715258.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF349467 mRNA. Translation: AAL83913.1 .
    AK001449 mRNA. Translation: BAA91699.1 . Different initiation.
    AK026858 mRNA. Translation: BAB15576.1 .
    AL834490 mRNA. Translation: CAD39148.1 .
    AC099850 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94415.1 .
    BC020957 mRNA. Translation: AAH20957.1 . Different initiation.
    BC031604 mRNA. Translation: AAH31604.1 .
    CCDSi CCDS11615.1. [Q8ND04-1 ]
    RefSeqi NP_060619.4. NM_018149.6. [Q8ND04-1 ]
    UniGenei Hs.7296.

    3D structure databases

    ProteinModelPortali Q8ND04.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120480. 6 interactions.
    IntActi Q8ND04. 4 interactions.
    STRINGi 9606.ENSP00000300917.

    PTM databases

    PhosphoSitei Q8ND04.

    Polymorphism databases

    DMDMi 74715258.

    Proteomic databases

    MaxQBi Q8ND04.
    PaxDbi Q8ND04.
    PRIDEi Q8ND04.

    Protocols and materials databases

    DNASUi 55181.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000300917 ; ENSP00000300917 ; ENSG00000167447 . [Q8ND04-1 ]
    ENST00000543872 ; ENSP00000438748 ; ENSG00000167447 . [Q8ND04-1 ]
    ENST00000578922 ; ENSP00000462119 ; ENSG00000167447 . [Q8ND04-3 ]
    GeneIDi 55181.
    KEGGi hsa:55181.
    UCSCi uc002ixi.3. human. [Q8ND04-1 ]

    Organism-specific databases

    CTDi 55181.
    GeneCardsi GC17P057288.
    H-InvDB HIX0202411.
    HGNCi HGNC:25551. SMG8.
    HPAi HPA024841.
    MIMi 613175. gene.
    neXtProti NX_Q8ND04.
    PharmGKBi PA142672219.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG253733.
    HOGENOMi HOG000154346.
    InParanoidi Q8ND04.
    OMAi HKFHLLP.
    OrthoDBi EOG7S4X5N.
    PhylomeDBi Q8ND04.
    TreeFami TF323445.

    Enzyme and pathway databases

    Reactomei REACT_75822. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).

    Miscellaneous databases

    ChiTaRSi SMG8. human.
    GenomeRNAii 55181.
    NextBioi 59007.
    PROi Q8ND04.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8ND04.
    Bgeei Q8ND04.
    CleanExi HS_C17orf71.
    Genevestigatori Q8ND04.

    Family and domain databases

    InterProi IPR028802. SMG8.
    IPR019354. Smg8/Smg9.
    [Graphical view ]
    PANTHERi PTHR13091:SF0. PTHR13091:SF0. 1 hit.
    Pfami PF10220. DUF2146. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of three novel amplified and overexpressed genes from breast cancer."
      Wu G.G., Couch F.J.
      Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    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 1).
      Tissue: Adipose tissue.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(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] OF 265-991 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-991 (ISOFORM 3).
      Tissue: Brain and Colon.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-469, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay."
      Yamashita A., Izumi N., Kashima I., Ohnishi T., Saari B., Katsuhata Y., Muramatsu R., Morita T., Iwamatsu A., Hachiya T., Kurata R., Hirano H., Anderson P., Ohno S.
      Genes Dev. 23:1091-1105(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, PHOSPHORYLATION, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SMG1C COMPLEX.
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "The nonsense-mediated mRNA decay SMG-1 kinase is regulated by large-scale conformational changes controlled by SMG-8."
      Arias-Palomo E., Yamashita A., Fernandez I.S., Nunez-Ramirez R., Bamba Y., Izumi N., Ohno S., Llorca O.
      Genes Dev. 25:153-164(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SMG1 AND SMG9, ELECTRON MICROSCOPY OF THE SMG1C COMPLEX.
    12. "Characterization of SMG-9, an essential component of the nonsense-mediated mRNA decay SMG1C complex."
      Fernandez I.S., Yamashita A., Arias-Palomo E., Bamba Y., Bartolome R.A., Canales M.A., Teixido J., Ohno S., Llorca O.
      Nucleic Acids Res. 39:347-358(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT.
    13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-668, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiSMG8_HUMAN
    AccessioniPrimary (citable) accession number: Q8ND04
    Secondary accession number(s): Q8N5U5
    , Q8TDN0, Q9H5P5, Q9NVQ1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 2, 2007
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 87 of the entry and version 1 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 17
      Human chromosome 17: 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