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Q9Y5P6

- GMPPB_HUMAN

UniProt

Q9Y5P6 - GMPPB_HUMAN

Protein

Mannose-1-phosphate guanyltransferase beta

Gene

GMPPB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (23 Oct 2007)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    GTP + alpha-D-mannose 1-phosphate = diphosphate + GDP-mannose.

    Pathwayi

    GO - Molecular functioni

    1. GTP binding Source: UniProtKB-KW
    2. mannose-1-phosphate guanylyltransferase activity Source: UniProtKB-EC

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
    3. GDP-mannose biosynthetic process Source: Reactome
    4. post-translational protein modification Source: Reactome
    5. protein N-linked glycosylation via asparagine Source: Reactome

    Keywords - Molecular functioni

    Nucleotidyltransferase, Transferase

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_22423. Synthesis of GDP-mannose.
    UniPathwayiUPA00126; UER00930.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mannose-1-phosphate guanyltransferase beta (EC:2.7.7.13)
    Alternative name(s):
    GDP-mannose pyrophosphorylase B
    GTP-mannose-1-phosphate guanylyltransferase beta
    Gene namesi
    Name:GMPPB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:22932. GMPPB.

    Subcellular locationi

    Cytoplasm 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. extracellular vesicular exosome Source: UniProt
    3. mitochondrion Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti334 – 3341D → N in MDDGA14; causes protein aggregation. 1 Publication
    VAR_070148
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]: A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti32 – 321P → L in MDDGB14; causes protein aggregation. 1 Publication
    VAR_070144
    Natural varianti185 – 1851R → C in MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 Publication
    VAR_070145
    Natural varianti287 – 2871R → Q in MDDGB14. 1 Publication
    VAR_070146
    Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]: An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221P → S in MDDGC14; causes protein aggregation. 1 Publication
    VAR_070142
    Natural varianti27 – 271D → H in MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 Publication
    VAR_070143
    Natural varianti330 – 3301V → I in MDDGC14; causes protein aggregation. 1 Publication
    VAR_070147

    Keywords - Diseasei

    Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy

    Organism-specific databases

    MIMi615350. phenotype.
    615351. phenotype.
    615352. phenotype.
    Orphaneti363623. Autosomal recessive limb-girdle muscular dystrophy type 2T.
    370959. Congenital muscular dystrophy with cerebellar involvement.
    370968. Congenital muscular dystrophy with intellectual disability.
    588. Muscle-eye-brain disease.
    PharmGKBiPA134875590.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 360360Mannose-1-phosphate guanyltransferase betaPRO_0000307162Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y5P6.
    PaxDbiQ9Y5P6.
    PRIDEiQ9Y5P6.

    PTM databases

    PhosphoSiteiQ9Y5P6.

    Expressioni

    Gene expression databases

    BgeeiQ9Y5P6.
    CleanExiHS_GMPPB.
    GenevestigatoriQ9Y5P6.

    Organism-specific databases

    HPAiHPA014657.

    Interactioni

    Subunit structurei

    Associates with GMPPA.By similarity

    Protein-protein interaction databases

    BioGridi118966. 12 interactions.
    IntActiQ9Y5P6. 1 interaction.
    MINTiMINT-1461031.
    STRINGi9606.ENSP00000309092.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y5P6.
    SMRiQ9Y5P6. Positions 1-333.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1208.
    HOGENOMiHOG000283479.
    HOVERGENiHBG107955.
    KOiK00966.
    OMAiNAKIFSS.
    OrthoDBiEOG7CRTPW.
    PhylomeDBiQ9Y5P6.
    TreeFamiTF300718.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR001451. Hexapep_transf.
    IPR018357. Hexapep_transf_CS.
    IPR005835. NTP_transferase.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF00132. Hexapep. 1 hit.
    PF00483. NTP_transferase. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.
    PROSITEiPS00101. HEXAPEP_TRANSFERASES. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y5P6-1) [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

    MKALILVGGY GTRLRPLTLS TPKPLVDFCN KPILLHQVEA LAAAGVDHVI    50
    LAVSYMSQVL EKEMKAQEQR LGIRISMSHE EEPLGTAGPL ALARDLLSET 100
    ADPFFVLNSD VICDFPFQAM VQFHRHHGQE GSILVTKVEE PSKYGVVVCE 150
    ADTGRIHRFV EKPQVFVSNK INAGMYILSP AVLQRIQLQP TSIEKEVFPI 200
    MAKEGQLYAM ELQGFWMDIG QPKDFLTGMC LFLQSLRQKQ PERLCSGPGI 250
    VGNVLVDPSA RIGQNCSIGP NVSLGPGVVV EDGVCIRRCT VLRDARIRSH 300
    SWLESCIVGW RCRVGQWVRM ENVTVLGEDV IVNDELYLNG ASVLPHKSIG 350
    ESVPEPRIIM 360
    Length:360
    Mass (Da):39,834
    Last modified:October 23, 2007 - v2
    Checksum:i8212C77BBB2EF960
    GO
    Isoform 2 (identifier: Q9Y5P6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         317-317: W → WVSLWAGLGGERGGECACLPDKAYPLLE

    Show »
    Length:387
    Mass (Da):42,622
    Checksum:iE6F568BDB5D1BF1D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221P → S in MDDGC14; causes protein aggregation. 1 Publication
    VAR_070142
    Natural varianti27 – 271D → H in MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 Publication
    VAR_070143
    Natural varianti32 – 321P → L in MDDGB14; causes protein aggregation. 1 Publication
    VAR_070144
    Natural varianti126 – 1261H → D.
    Corresponds to variant rs34345884 [ dbSNP | Ensembl ].
    VAR_035372
    Natural varianti184 – 1841Q → R.3 Publications
    Corresponds to variant rs1466685 [ dbSNP | Ensembl ].
    VAR_035373
    Natural varianti185 – 1851R → C in MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 Publication
    VAR_070145
    Natural varianti287 – 2871R → Q in MDDGB14. 1 Publication
    VAR_070146
    Natural varianti330 – 3301V → I in MDDGC14; causes protein aggregation. 1 Publication
    VAR_070147
    Natural varianti334 – 3341D → N in MDDGA14; causes protein aggregation. 1 Publication
    VAR_070148

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei317 – 3171W → WVSLWAGLGGERGGECACLP DKAYPLLE in isoform 2. 1 PublicationVSP_028619

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF135421 mRNA. Translation: AAD38516.1.
    AK024319 mRNA. Translation: BAB14882.1.
    AK291700 mRNA. Translation: BAF84389.1.
    AC099668 Genomic DNA. No translation available.
    BC001141 mRNA. Translation: AAH01141.1.
    BC008033 mRNA. Translation: AAH08033.1.
    CCDSiCCDS2802.1. [Q9Y5P6-2]
    CCDS2803.1. [Q9Y5P6-1]
    RefSeqiNP_037466.2. NM_013334.3.
    NP_068806.1. NM_021971.2.
    UniGeneiHs.567488.

    Genome annotation databases

    EnsembliENST00000308375; ENSP00000309092; ENSG00000173540. [Q9Y5P6-2]
    ENST00000308388; ENSP00000311130; ENSG00000173540. [Q9Y5P6-1]
    ENST00000480687; ENSP00000418565; ENSG00000173540. [Q9Y5P6-1]
    GeneIDi29925.
    KEGGihsa:29925.
    UCSCiuc003cxk.1. human. [Q9Y5P6-1]
    uc003cxl.1. human. [Q9Y5P6-2]

    Polymorphism databases

    DMDMi160013885.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF135421 mRNA. Translation: AAD38516.1 .
    AK024319 mRNA. Translation: BAB14882.1 .
    AK291700 mRNA. Translation: BAF84389.1 .
    AC099668 Genomic DNA. No translation available.
    BC001141 mRNA. Translation: AAH01141.1 .
    BC008033 mRNA. Translation: AAH08033.1 .
    CCDSi CCDS2802.1. [Q9Y5P6-2 ]
    CCDS2803.1. [Q9Y5P6-1 ]
    RefSeqi NP_037466.2. NM_013334.3.
    NP_068806.1. NM_021971.2.
    UniGenei Hs.567488.

    3D structure databases

    ProteinModelPortali Q9Y5P6.
    SMRi Q9Y5P6. Positions 1-333.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118966. 12 interactions.
    IntActi Q9Y5P6. 1 interaction.
    MINTi MINT-1461031.
    STRINGi 9606.ENSP00000309092.

    PTM databases

    PhosphoSitei Q9Y5P6.

    Polymorphism databases

    DMDMi 160013885.

    Proteomic databases

    MaxQBi Q9Y5P6.
    PaxDbi Q9Y5P6.
    PRIDEi Q9Y5P6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308375 ; ENSP00000309092 ; ENSG00000173540 . [Q9Y5P6-2 ]
    ENST00000308388 ; ENSP00000311130 ; ENSG00000173540 . [Q9Y5P6-1 ]
    ENST00000480687 ; ENSP00000418565 ; ENSG00000173540 . [Q9Y5P6-1 ]
    GeneIDi 29925.
    KEGGi hsa:29925.
    UCSCi uc003cxk.1. human. [Q9Y5P6-1 ]
    uc003cxl.1. human. [Q9Y5P6-2 ]

    Organism-specific databases

    CTDi 29925.
    GeneCardsi GC03M049733.
    HGNCi HGNC:22932. GMPPB.
    HPAi HPA014657.
    MIMi 615320. gene.
    615350. phenotype.
    615351. phenotype.
    615352. phenotype.
    neXtProti NX_Q9Y5P6.
    Orphaneti 363623. Autosomal recessive limb-girdle muscular dystrophy type 2T.
    370959. Congenital muscular dystrophy with cerebellar involvement.
    370968. Congenital muscular dystrophy with intellectual disability.
    588. Muscle-eye-brain disease.
    PharmGKBi PA134875590.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1208.
    HOGENOMi HOG000283479.
    HOVERGENi HBG107955.
    KOi K00966.
    OMAi NAKIFSS.
    OrthoDBi EOG7CRTPW.
    PhylomeDBi Q9Y5P6.
    TreeFami TF300718.

    Enzyme and pathway databases

    UniPathwayi UPA00126 ; UER00930 .
    Reactomei REACT_22423. Synthesis of GDP-mannose.

    Miscellaneous databases

    GeneWikii GMPPB.
    GenomeRNAii 29925.
    NextBioi 52539.
    PROi Q9Y5P6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9Y5P6.
    CleanExi HS_GMPPB.
    Genevestigatori Q9Y5P6.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR001451. Hexapep_transf.
    IPR018357. Hexapep_transf_CS.
    IPR005835. NTP_transferase.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    Pfami PF00132. Hexapep. 1 hit.
    PF00483. NTP_transferase. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    PROSITEi PS00101. HEXAPEP_TRANSFERASES. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human homolog of GDP-mannose pyrophosphorylase."
      Matthijs G., Schollen E., Dierickx D.
      Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-184.
    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] (ISOFORMS 1 AND 2), VARIANT ARG-184.
      Tissue: Placenta.
    3. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [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), VARIANT ARG-184.
      Tissue: Brain and Eye.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Cited for: SUBCELLULAR LOCATION, VARIANT MDDGA14 ASN-334, VARIANTS MDDGB14 LEU-32; CYS-185 AND GLN-287, VARIANTS MDDGC14 SER-22; HIS-27 AND ILE-330, CHARACTERIZATION OF VARIANT MDDGA14 ASN-334, CHARACTERIZATION OF VARIANTS MDDGB14 LEU-32; CYS-185 AND GLN-287, CHARACTERIZATION OF VARIANTS MDDGC14 SER-22; HIS-27 AND ILE-330.

    Entry informationi

    Entry nameiGMPPB_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y5P6
    Secondary accession number(s): A8K6N5, Q9H7U3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 2007
    Last sequence update: October 23, 2007
    Last modified: October 1, 2014
    This is version 117 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 3
      Human chromosome 3: 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