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Q9Y619

- ORNT1_HUMAN

UniProt

Q9Y619 - ORNT1_HUMAN

Protein

Mitochondrial ornithine transporter 1

Gene

SLC25A15

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    Functioni

    Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix.

    GO - Molecular functioni

    1. L-ornithine transmembrane transporter activity Source: ProtInc

    GO - Biological processi

    1. cellular amino acid metabolic process Source: ProtInc
    2. cellular nitrogen compound metabolic process Source: Reactome
    3. mitochondrial ornithine transport Source: ProtInc
    4. small molecule metabolic process Source: Reactome
    5. urea cycle Source: Reactome

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_847. Urea cycle.

    Protein family/group databases

    TCDBi2.A.29.19.2. the mitochondrial carrier (mc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mitochondrial ornithine transporter 1
    Alternative name(s):
    Solute carrier family 25 member 15
    Gene namesi
    Name:SLC25A15
    Synonyms:ORNT1
    ORF Names:SP1855
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:10985. SLC25A15.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: ProtInc
    2. mitochondrial inner membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]: Autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271G → E in HHH syndrome. 1 Publication
    VAR_012757
    Natural varianti27 – 271G → R in HHH syndrome; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 3 Publications
    VAR_012758
    Natural varianti37 – 371M → R in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058948
    Natural varianti70 – 701A → L in HHH syndrome; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication
    VAR_058949
    Natural varianti71 – 711L → Q in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058950
    Natural varianti113 – 1131G → C in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058951
    Natural varianti126 – 1261P → R in HHH syndrome. 1 Publication
    VAR_012759
    Natural varianti180 – 1801E → K in HHH syndrome. 1 Publication
    VAR_012760
    Natural varianti188 – 1881F → L in HHH syndrome; maintains a residual transport activity of 10%. 1 Publication
    VAR_058952
    Natural varianti188 – 1881Missing in HHH syndrome. 3 Publications
    VAR_012761
    Natural varianti190 – 1901G → D in HHH syndrome; maintains a residual transport activity of 35%. 2 Publications
    VAR_012762
    Natural varianti216 – 2161G → S in HHH syndrome. 1 Publication
    VAR_058953
    Natural varianti272 – 2721T → I in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058954
    Natural varianti273 – 2731M → K in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058955
    Natural varianti275 – 2751R → Q in HHH syndrome. 2 Publications
    VAR_012764
    Natural varianti283 – 2831L → F in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058956

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi238970. phenotype.
    Orphaneti415. Hyperornithinemia-hyperammonemia-homocitrullinuria.
    PharmGKBiPA35861.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 301301Mitochondrial ornithine transporter 1PRO_0000090650Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y619.
    PaxDbiQ9Y619.
    PRIDEiQ9Y619.

    PTM databases

    PhosphoSiteiQ9Y619.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y619.
    BgeeiQ9Y619.
    CleanExiHS_SLC25A15.
    GenevestigatoriQ9Y619.

    Organism-specific databases

    HPAiHPA042146.

    Interactioni

    Protein-protein interaction databases

    BioGridi115468. 2 interactions.
    STRINGi9606.ENSP00000342267.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y619.
    SMRiQ9Y619. Positions 17-295.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei5 – 2521Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei68 – 8821Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei110 – 13021Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei168 – 18821Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei207 – 22721Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei237 – 25721Helical; Name=6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati7 – 9185Solcar 1Add
    BLAST
    Repeati104 – 19794Solcar 2Add
    BLAST
    Repeati207 – 29387Solcar 3Add
    BLAST

    Sequence similaritiesi

    Contains 3 Solcar repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG245037.
    HOGENOMiHOG000168307.
    HOVERGENiHBG062630.
    InParanoidiQ9Y619.
    KOiK15101.
    OMAiSRKLMMN.
    OrthoDBiEOG7XWPPB.
    PhylomeDBiQ9Y619.
    TreeFamiTF314880.

    Family and domain databases

    Gene3Di1.50.40.10. 1 hit.
    InterProiIPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view]
    PfamiPF00153. Mito_carr. 3 hits.
    [Graphical view]
    SUPFAMiSSF103506. SSF103506. 1 hit.
    PROSITEiPS50920. SOLCAR. 3 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9Y619-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKSNPAIQAA IDLTAGAAGG TACVLTGQPF DTMKVKMQTF PDLYRGLTDC    50
    CLKTYSQVGF RGFYKGTSPA LIANIAENSV LFMCYGFCQQ VVRKVAGLDK 100
    QAKLSDLQNA AAGSFASAFA ALVLCPTELV KCRLQTMYEM ETSGKIAKSQ 150
    NTVWSVIKSI LRKDGPLGFY HGLSSTLLRE VPGYFFFFGG YELSRSFFAS 200
    GRSKDELGPV PLMLSGGVGG ICLWLAVYPV DCIKSRIQVL SMSGKQAGFI 250
    RTFINVVKNE GITALYSGLK PTMIRAFPAN GALFLAYEYS RKLMMNQLEA 300
    Y 301
    Length:301
    Mass (Da):32,736
    Last modified:November 1, 1999 - v1
    Checksum:i34436A15B105DC53
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271G → E in HHH syndrome. 1 Publication
    VAR_012757
    Natural varianti27 – 271G → R in HHH syndrome; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 3 Publications
    VAR_012758
    Natural varianti37 – 371M → R in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058948
    Natural varianti70 – 701A → L in HHH syndrome; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication
    VAR_058949
    Natural varianti71 – 711L → Q in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058950
    Natural varianti113 – 1131G → C in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058951
    Natural varianti126 – 1261P → R in HHH syndrome. 1 Publication
    VAR_012759
    Natural varianti180 – 1801E → K in HHH syndrome. 1 Publication
    VAR_012760
    Natural varianti188 – 1881F → L in HHH syndrome; maintains a residual transport activity of 10%. 1 Publication
    VAR_058952
    Natural varianti188 – 1881Missing in HHH syndrome. 3 Publications
    VAR_012761
    Natural varianti190 – 1901G → D in HHH syndrome; maintains a residual transport activity of 35%. 2 Publications
    VAR_012762
    Natural varianti216 – 2161G → S in HHH syndrome. 1 Publication
    VAR_058953
    Natural varianti254 – 2541I → L.
    Corresponds to variant rs17849654 [ dbSNP | Ensembl ].
    VAR_012763
    Natural varianti272 – 2721T → I in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058954
    Natural varianti273 – 2731M → K in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058955
    Natural varianti275 – 2751R → Q in HHH syndrome. 2 Publications
    VAR_012764
    Natural varianti283 – 2831L → F in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 Publication
    VAR_058956

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF112968 mRNA. Translation: AAD45238.1.
    AJ309943 Genomic DNA. Translation: CAC83972.1.
    AF177333 mRNA. Translation: AAG17977.1.
    AL161614 Genomic DNA. Translation: CAH72774.1.
    CH471075 Genomic DNA. Translation: EAX08630.1.
    BC002702 mRNA. Translation: AAH02702.1.
    CCDSiCCDS9373.1.
    RefSeqiNP_055067.1. NM_014252.3.
    UniGeneiHs.646645.

    Genome annotation databases

    EnsembliENST00000338625; ENSP00000342267; ENSG00000102743.
    GeneIDi10166.
    KEGGihsa:10166.
    UCSCiuc001uxn.3. human.

    Polymorphism databases

    DMDMi20139303.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF112968 mRNA. Translation: AAD45238.1 .
    AJ309943 Genomic DNA. Translation: CAC83972.1 .
    AF177333 mRNA. Translation: AAG17977.1 .
    AL161614 Genomic DNA. Translation: CAH72774.1 .
    CH471075 Genomic DNA. Translation: EAX08630.1 .
    BC002702 mRNA. Translation: AAH02702.1 .
    CCDSi CCDS9373.1.
    RefSeqi NP_055067.1. NM_014252.3.
    UniGenei Hs.646645.

    3D structure databases

    ProteinModelPortali Q9Y619.
    SMRi Q9Y619. Positions 17-295.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115468. 2 interactions.
    STRINGi 9606.ENSP00000342267.

    Chemistry

    DrugBanki DB00129. L-Ornithine.

    Protein family/group databases

    TCDBi 2.A.29.19.2. the mitochondrial carrier (mc) family.

    PTM databases

    PhosphoSitei Q9Y619.

    Polymorphism databases

    DMDMi 20139303.

    Proteomic databases

    MaxQBi Q9Y619.
    PaxDbi Q9Y619.
    PRIDEi Q9Y619.

    Protocols and materials databases

    DNASUi 10166.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000338625 ; ENSP00000342267 ; ENSG00000102743 .
    GeneIDi 10166.
    KEGGi hsa:10166.
    UCSCi uc001uxn.3. human.

    Organism-specific databases

    CTDi 10166.
    GeneCardsi GC13P041363.
    GeneReviewsi SLC25A15.
    H-InvDB HIX0011260.
    HGNCi HGNC:10985. SLC25A15.
    HPAi HPA042146.
    MIMi 238970. phenotype.
    603861. gene.
    neXtProti NX_Q9Y619.
    Orphaneti 415. Hyperornithinemia-hyperammonemia-homocitrullinuria.
    PharmGKBi PA35861.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG245037.
    HOGENOMi HOG000168307.
    HOVERGENi HBG062630.
    InParanoidi Q9Y619.
    KOi K15101.
    OMAi SRKLMMN.
    OrthoDBi EOG7XWPPB.
    PhylomeDBi Q9Y619.
    TreeFami TF314880.

    Enzyme and pathway databases

    Reactomei REACT_847. Urea cycle.

    Miscellaneous databases

    ChiTaRSi SLC25A15. human.
    GenomeRNAii 10166.
    NextBioi 38490.
    PROi Q9Y619.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y619.
    Bgeei Q9Y619.
    CleanExi HS_SLC25A15.
    Genevestigatori Q9Y619.

    Family and domain databases

    Gene3Di 1.50.40.10. 1 hit.
    InterProi IPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view ]
    Pfami PF00153. Mito_carr. 3 hits.
    [Graphical view ]
    SUPFAMi SSF103506. SSF103506. 1 hit.
    PROSITEi PS50920. SOLCAR. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter."
      Camacho J.A., Obie C., Biery B., Goodman B.K., Hu A., Almashanu S., Steel G., Casey R., Lombard M., Mitchell G.A., Valle D.
      Nat. Genet. 22:151-158(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS HHH SYNDROME LYS-180 AND PHE-188 DEL.
    2. "The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms."
      Fiermonte G., Dolce V., David L., Santorelli F.M., Dionisi-Vici C., Palmieri F., Walker J.E.
      J. Biol. Chem. 278:32778-32783(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], CHARACTERIZATION OF VARIANTS HHH SYNDROME ARG-27; PHE-188 DEL; ASP-190 AND GLN-275.
    3. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
      Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
      , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
      Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [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].
      Tissue: Skin.
    7. "Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome."
      Tsujino S., Kanazawa N., Ohashi T., Eto Y., Saito T., Kira J., Yamada T.
      Ann. Neurol. 47:625-631(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HHH SYNDROME GLU-27.
    8. "Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome."
      Salvi S., Dionisi-Vici C., Bertini E., Verardo M., Santorelli F.M.
      Hum. Mutat. 18:460-460(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHH SYNDROME ARG-27; PHE-188 DEL; ASP-190 AND GLN-275.
    9. "Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome."
      Salvi S., Santorelli F.M., Bertini E., Boldrini R., Meli C., Donati A., Burlina A.B., Rizzo C., Di Capua M., Fariello G., Dionisi-Vici C.
      Neurology 57:911-914(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHH SYNDROME ARG-27; PHE-188 DEL; ASP-190 AND GLN-275.
    10. "A novel mutation, P126R, in a Japanese patient with HHH syndrome."
      Miyamoto T., Kanazawa N., Hayakawa C., Tsujino S.
      Pediatr. Neurol. 26:65-67(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HHH SYNDROME ARG-126.
    11. "HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation."
      Fecarotta S., Parenti G., Vajro P., Zuppaldi A., Della Casa R., Carbone M.T., Correra A., Torre G., Riva S., Dionisi-Vici C., Santorelli F.M., Andria G.
      J. Inherit. Metab. Dis. 29:186-189(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHH SYNDROME CYS-113 AND LYS-273.
    12. Cited for: VARIANTS HHH SYNDROME ARG-27; ARG-37; LEU-70; GLN-71; LEU-188; SER-216; ILE-272 AND PHE-283, CHARACTERIZATION OF VARIANTS HHH SYNDROME ARG-37; GLN-71; CYS-113; ILE-272; LYS-273 AND PHE-283.

    Entry informationi

    Entry nameiORNT1_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y619
    Secondary accession number(s): Q5VZD8, Q9HC45
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 11, 2002
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 129 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 13
      Human chromosome 13: 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