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Q8N5D6

- GBGT1_HUMAN

UniProt

Q8N5D6 - GBGT1_HUMAN

Protein

Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

Gene

GBGT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (10 May 2005)
      Previous versions | rss
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    Functioni

    Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens.

    Cofactori

    Manganese.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi206 – 2061ManganeseBy similarity
    Metal bindingi208 – 2081ManganeseBy similarity

    GO - Molecular functioni

    1. globoside alpha-N-acetylgalactosaminyltransferase activity Source: Ensembl
    2. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. glycolipid biosynthetic process Source: ProtInc
    2. protein glycosylation Source: UniProtKB-UniPathway

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Ligandi

    Manganese, Metal-binding

    Enzyme and pathway databases

    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT6. Glycosyltransferase Family 6.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (EC:2.4.1.-)
    Alternative name(s):
    Forssman glycolipid synthase-like protein
    Gene namesi
    Name:GBGT1
    ORF Names:UNQ2513/PRO6002
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:20460. GBGT1.

    Subcellular locationi

    GO - Cellular componenti

    1. Golgi membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134967297.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 347347Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1PRO_0000157295Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi108 – 1081N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ8N5D6.
    PRIDEiQ8N5D6.

    Expressioni

    Tissue specificityi

    Widely expressed. Expressed at higher level in placenta, ovary and peripheral blood leukocyte, whereas it is weakly expressed in liver, thymus, and testis.1 Publication

    Gene expression databases

    ArrayExpressiQ8N5D6.
    BgeeiQ8N5D6.
    CleanExiHS_GBGT1.
    GenevestigatoriQ8N5D6.

    Organism-specific databases

    HPAiHPA051298.

    Interactioni

    Protein-protein interaction databases

    IntActiQ8N5D6. 1 interaction.
    STRINGi9606.ENSP00000361110.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N5D6.
    SMRiQ8N5D6. Positions 66-338.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 55CytoplasmicSequence Analysis
    Topological domaini27 – 347321LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei6 – 2621Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domaini

    The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis By similarity.By similarity

    Sequence similaritiesi

    Belongs to the glycosyltransferase 6 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG43612.
    HOVERGENiHBG003563.
    InParanoidiQ8N5D6.
    KOiK00722.
    OMAiPCPEIFN.
    OrthoDBiEOG72JWGX.
    PhylomeDBiQ8N5D6.
    TreeFamiTF330991.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR005076. Glyco_trans_6.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR10462. PTHR10462. 1 hit.
    PfamiPF03414. Glyco_transf_6. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N5D6-1) [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

    MHRRRLALGL GFCLLAGTSL SVLWVYLENW LPVSYVPYYL PCPEIFNMKL    50
    HYKREKPLQP VVWSQYPQPK LLEHRPTQLL TLTPWLAPIV SEGTFNPELL 100
    QHIYQPLNLT IGVTVFAVGK YTHFIQSFLE SAEEFFMRGY RVHYYIFTDN 150
    PAAVPGVPLG PHRLLSSIPI QGHSHWEETS MRRMETISQH IAKRAHREVD 200
    YLFCLDVDMV FRNPWGPETL GDLVAAIHPS YYAVPRQQFP YERRRVSTAF 250
    VADSEGDFYY GGAVFGGQVA RVYEFTRGCH MAILADKANG IMAAWREESH 300
    LNRHFISNKP SKVLSPEYLW DDRKPQPPSL KLIRFSTLDK DISCLRS 347
    Length:347
    Mass (Da):40,127
    Last modified:May 10, 2005 - v2
    Checksum:i99987D43B22344A0
    GO
    Isoform 2 (identifier: Q8N5D6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         120-347: KYTHFIQSFL...LDKDISCLRS → NPSWSQPRSS...SWLPGGRKAT

    Note: No experimental confirmation available.

    Show »
    Length:294
    Mass (Da):32,687
    Checksum:i4FC38271E20C577F
    GO
    Isoform 3 (identifier: Q8N5D6-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         46-63: FNMKLHYKREKPLQPVVW → L

    Note: No experimental confirmation available.

    Show »
    Length:330
    Mass (Da):37,945
    Checksum:iDBF7B5A9A1BCDE3D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti163 – 1631R → Q in AAF06145. (PubMed:10506200)Curated
    Sequence conflicti202 – 2021L → F in AAF06145. (PubMed:10506200)Curated
    Sequence conflicti254 – 2541S → R in AAF06145. (PubMed:10506200)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201L → F.4 Publications
    Corresponds to variant rs2073924 [ dbSNP | Ensembl ].
    VAR_022452
    Natural varianti21 – 211S → G.1 Publication
    Corresponds to variant rs35578482 [ dbSNP | Ensembl ].
    VAR_025068
    Natural varianti79 – 791L → P.1 Publication
    Corresponds to variant rs12350913 [ dbSNP | Ensembl ].
    VAR_025069
    Natural varianti163 – 1631R → W.1 Publication
    Corresponds to variant rs34260370 [ dbSNP | Ensembl ].
    VAR_025070
    Natural varianti200 – 2001D → N.1 Publication
    Corresponds to variant rs34903033 [ dbSNP | Ensembl ].
    VAR_025071
    Natural varianti238 – 2381Q → P.1 Publication
    Corresponds to variant rs35366884 [ dbSNP | Ensembl ].
    VAR_025072
    Natural varianti248 – 2481T → I.1 Publication
    Corresponds to variant rs35184631 [ dbSNP | Ensembl ].
    VAR_025073
    Natural varianti291 – 2911I → F.1 Publication
    Corresponds to variant rs35403335 [ dbSNP | Ensembl ].
    VAR_025074

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei46 – 6318FNMKL…QPVVW → L in isoform 3. 1 PublicationVSP_055375Add
    BLAST
    Alternative sequencei120 – 347228KYTHF…SCLRS → NPSWSQPRSSSCVGTGCTTT SSLTTLQPFPGSRWVPTGFS APSPSRVTPTGRRHPCAGWR PSASTLLRGLTGRWTTSSAL MWTWCFGTRGALRPWETWWL PFTQATTPFPASSSPMSAGV FPLPLWQTAKGTSIMVGQSS GGRWPGYMSLLGAATWPSWR TRPMASWLPGGRKAT in isoform 2. 1 PublicationVSP_013750Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF163572 Transcribed RNA. Translation: AAF06145.1.
    AY358175 mRNA. Translation: AAQ88542.1.
    AK074639 mRNA. Translation: BAC11106.1.
    AK291498 mRNA. Translation: BAF84187.1.
    AK303825 mRNA. Translation: BAH14061.1.
    AK314097 mRNA. Translation: BAG36792.1.
    DQ145941 Genomic DNA. Translation: AAZ38721.1.
    AL162417 Genomic DNA. Translation: CAI13418.1.
    AL162417 Genomic DNA. Translation: CAI13420.1.
    CH471090 Genomic DNA. Translation: EAW88045.1.
    BC032499 mRNA. Translation: AAH32499.1.
    CCDSiCCDS65175.1. [Q8N5D6-3]
    CCDS65176.1. [Q8N5D6-2]
    CCDS6960.1. [Q8N5D6-1]
    RefSeqiNP_001269558.1. NM_001282629.1. [Q8N5D6-2]
    NP_001269561.1. NM_001282632.1.
    NP_001275501.1. NM_001288572.1.
    NP_001275502.1. NM_001288573.1.
    NP_068836.2. NM_021996.5. [Q8N5D6-1]
    UniGeneiHs.495419.

    Genome annotation databases

    EnsembliENST00000372040; ENSP00000361110; ENSG00000148288. [Q8N5D6-1]
    ENST00000372043; ENSP00000361113; ENSG00000148288. [Q8N5D6-2]
    ENST00000540636; ENSP00000437663; ENSG00000148288. [Q8N5D6-3]
    GeneIDi26301.
    KEGGihsa:26301.
    UCSCiuc004ccw.3. human. [Q8N5D6-1]

    Polymorphism databases

    DMDMi67464687.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    SeattleSNPs
    Functional Glycomics Gateway - GTase

    Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF163572 Transcribed RNA. Translation: AAF06145.1 .
    AY358175 mRNA. Translation: AAQ88542.1 .
    AK074639 mRNA. Translation: BAC11106.1 .
    AK291498 mRNA. Translation: BAF84187.1 .
    AK303825 mRNA. Translation: BAH14061.1 .
    AK314097 mRNA. Translation: BAG36792.1 .
    DQ145941 Genomic DNA. Translation: AAZ38721.1 .
    AL162417 Genomic DNA. Translation: CAI13418.1 .
    AL162417 Genomic DNA. Translation: CAI13420.1 .
    CH471090 Genomic DNA. Translation: EAW88045.1 .
    BC032499 mRNA. Translation: AAH32499.1 .
    CCDSi CCDS65175.1. [Q8N5D6-3 ]
    CCDS65176.1. [Q8N5D6-2 ]
    CCDS6960.1. [Q8N5D6-1 ]
    RefSeqi NP_001269558.1. NM_001282629.1. [Q8N5D6-2 ]
    NP_001269561.1. NM_001282632.1.
    NP_001275501.1. NM_001288572.1.
    NP_001275502.1. NM_001288573.1.
    NP_068836.2. NM_021996.5. [Q8N5D6-1 ]
    UniGenei Hs.495419.

    3D structure databases

    ProteinModelPortali Q8N5D6.
    SMRi Q8N5D6. Positions 66-338.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q8N5D6. 1 interaction.
    STRINGi 9606.ENSP00000361110.

    Protein family/group databases

    CAZyi GT6. Glycosyltransferase Family 6.

    Polymorphism databases

    DMDMi 67464687.

    Proteomic databases

    PaxDbi Q8N5D6.
    PRIDEi Q8N5D6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372040 ; ENSP00000361110 ; ENSG00000148288 . [Q8N5D6-1 ]
    ENST00000372043 ; ENSP00000361113 ; ENSG00000148288 . [Q8N5D6-2 ]
    ENST00000540636 ; ENSP00000437663 ; ENSG00000148288 . [Q8N5D6-3 ]
    GeneIDi 26301.
    KEGGi hsa:26301.
    UCSCi uc004ccw.3. human. [Q8N5D6-1 ]

    Organism-specific databases

    CTDi 26301.
    GeneCardsi GC09M136028.
    HGNCi HGNC:20460. GBGT1.
    HPAi HPA051298.
    MIMi 606074. gene.
    neXtProti NX_Q8N5D6.
    PharmGKBi PA134967297.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG43612.
    HOVERGENi HBG003563.
    InParanoidi Q8N5D6.
    KOi K00722.
    OMAi PCPEIFN.
    OrthoDBi EOG72JWGX.
    PhylomeDBi Q8N5D6.
    TreeFami TF330991.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .

    Miscellaneous databases

    GeneWikii GBGT1.
    GenomeRNAii 26301.
    NextBioi 35480557.
    PROi Q8N5D6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N5D6.
    Bgeei Q8N5D6.
    CleanExi HS_GBGT1.
    Genevestigatori Q8N5D6.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR005076. Glyco_trans_6.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR10462. PTHR10462. 1 hit.
    Pfami PF03414. Glyco_transf_6. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of the human Forssman synthetase gene: an evolving association between glycolipid synthesis and host-microbial interactions."
      Xu H., Storch T., Yu M., Elliott S.P., Haslam D.B.
      J. Biol. Chem. 274:29390-29398(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), LACK OF FORSSMAN SYNTHASE ACTIVITY, TISSUE SPECIFICITY.
      Tissue: Substantia nigra.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-20.
    3. "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] (ISOFORMS 1; 2 AND 3), VARIANT PHE-20.
      Tissue: Adrenal gland, Embryo and Lung.
    4. SeattleSNPs variation discovery resource
      Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PHE-20; GLY-21; PRO-79; TRP-163; ASN-200; PRO-238; ILE-248 AND PHE-291.
    5. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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), VARIANT PHE-20.
      Tissue: Pancreas.

    Entry informationi

    Entry nameiGBGT1_HUMAN
    AccessioniPrimary (citable) accession number: Q8N5D6
    Secondary accession number(s): A8K633
    , B2RA95, B7Z8S5, Q45F07, Q5T7U9, Q5T7V1, Q8N2K4, Q9UKI5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2005
    Last sequence update: May 10, 2005
    Last modified: October 1, 2014
    This is version 106 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 9
      Human chromosome 9: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3