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P00414

- COX3_HUMAN

UniProt

P00414 - COX3_HUMAN

Protein

Cytochrome c oxidase subunit 3

Gene

MT-CO3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 2 (30 May 2000)
      Previous versions | rss
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    Functioni

    Subunits I, II and III form the functional core of the enzyme complex.

    GO - Molecular functioni

    1. cytochrome-c oxidase activity Source: InterPro
    2. protein binding Source: IntAct

    GO - Biological processi

    1. aerobic electron transport chain Source: InterPro
    2. cellular metabolic process Source: Reactome
    3. respiratory chain complex IV assembly Source: UniProtKB
    4. respiratory electron transport chain Source: Reactome
    5. small molecule metabolic process Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_22393. Respiratory electron transport.

    Protein family/group databases

    TCDBi3.D.4.11.1. the proton-translocating cytochrome oxidase (cox) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome c oxidase subunit 3
    Alternative name(s):
    Cytochrome c oxidase polypeptide III
    Gene namesi
    Name:MT-CO3
    Synonyms:COIII, COXIII, MTCO3
    Encoded oniMitochondrion
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Mitochondrion

    Organism-specific databases

    HGNCiHGNC:7422. MT-CO3.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: Reactome
    3. respiratory chain complex IV Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti78 – 781G → S in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
    VAR_002167
    Natural varianti200 – 2001A → T in LHON; possible rare primary mutation. 1 Publication
    VAR_002168
    Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti94 – 985Missing in MT-C4D; with RM-MT. 1 Publication
    VAR_033057
    Recurrent myoglobinuria mitochondrial (RM-MT) [MIM:550500]: Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine.
    Note: The gene represented in this entry may be involved in disease pathogenesis.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti94 – 985Missing in MT-C4D; with RM-MT. 1 Publication
    VAR_033057

    Keywords - Diseasei

    Disease mutation, Leber hereditary optic neuropathy, MELAS syndrome

    Organism-specific databases

    MIMi220110. phenotype.
    535000. phenotype.
    550500. phenotype.
    Orphaneti99845. Genetic recurrent myoglobinuria.
    254905. Isolated cytochrome C oxidase deficiency.
    104. Leber hereditary optic neuropathy.
    255210. Maternally-inherited Leigh syndrome.
    550. MELAS syndrome.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 261260Cytochrome c oxidase subunit 3PRO_0000183793Add
    BLAST

    Proteomic databases

    MaxQBiP00414.
    PaxDbiP00414.
    PRIDEiP00414.

    Expressioni

    Gene expression databases

    BgeeiP00414.
    GenevestigatoriP00414.

    Organism-specific databases

    HPAiHPA042788.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SNCAP378403EBI-3932264,EBI-985879

    Protein-protein interaction databases

    BioGridi110617. 3 interactions.
    IntActiP00414. 6 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliP00414.
    SMRiP00414. Positions 3-261.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei15 – 3521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei42 – 5918HelicalSequence AnalysisAdd
    BLAST
    Transmembranei81 – 10121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei127 – 14721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei159 – 17921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei197 – 21721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei239 – 25921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1845.
    HOGENOMiHOG000264954.
    HOVERGENiHBG016686.
    InParanoidiP00414.
    KOiK02262.
    OMAiIFLATEV.
    OrthoDBiEOG72VH70.
    PhylomeDBiP00414.
    TreeFamiTF343435.

    Family and domain databases

    Gene3Di1.20.120.80. 1 hit.
    InterProiIPR024791. Cyt_c/ubiquinol_Oxase_su3.
    IPR013833. Cyt_c_oxidase_su3_a-hlx.
    IPR000298. Cyt_c_oxidase_su3_dom.
    [Graphical view]
    PANTHERiPTHR11403. PTHR11403. 1 hit.
    PfamiPF00510. COX3. 1 hit.
    [Graphical view]
    SUPFAMiSSF81452. SSF81452. 1 hit.
    PROSITEiPS50253. COX3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P00414-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTHQSHAYHM VKPSPWPLTG ALSALLMTSG LAMWFHFHSM TLLMLGLLTN    50
    TLTMYQWWRD VTRESTYQGH HTPPVQKGLR YGMILFITSE VFFFAGFFWA 100
    FYHSSLAPTP QLGGHWPPTG ITPLNPLEVP LLNTSVLLAS GVSITWAHHS 150
    LMENNRNQMI QALLITILLG LYFTLLQASE YFESPFTISD GIYGSTFFVA 200
    TGFHGLHVII GSTFLTICFI RQLMFHFTSK HHFGFEAAAW YWHFVDVVWL 250
    FLYVSIYWWG S 261
    Length:261
    Mass (Da):29,951
    Last modified:May 30, 2000 - v2
    Checksum:iA04385EF748B7C14
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti118 – 1181P → R in CAA24032. (PubMed:7219534)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31H → R.1 Publication
    VAR_008573
    Natural varianti35 – 351F → S.1 Publication
    VAR_008574
    Natural varianti78 – 781G → S in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
    VAR_002167
    Natural varianti91 – 911V → I.1 Publication
    Corresponds to variant rs2853825 [ dbSNP | Ensembl ].
    VAR_008575
    Natural varianti94 – 985Missing in MT-C4D; with RM-MT. 1 Publication
    VAR_033057
    Natural varianti177 – 1771Q → R.1 Publication
    VAR_008576
    Natural varianti200 – 2001A → T in LHON; possible rare primary mutation. 1 Publication
    VAR_002168
    Natural varianti251 – 2511F → L in a patient with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. 1 Publication
    VAR_002169
    Natural varianti254 – 2541V → I.1 Publication
    VAR_008577

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J01415 Genomic DNA. Translation: AAB58949.2.
    V00662 Genomic DNA. Translation: CAA24032.1.
    DQ654394 Genomic DNA. Translation: ABG27956.1.
    DQ654395 Genomic DNA. Translation: ABG27958.1.
    DQ654396 Genomic DNA. Translation: ABG27960.1.
    DQ654397 Genomic DNA. Translation: ABG27962.1.
    DQ654398 Genomic DNA. Translation: ABG27964.1.
    DQ654399 Genomic DNA. Translation: ABG27966.1.
    DQ654400 Genomic DNA. Translation: ABG27968.1.
    DQ654401 Genomic DNA. Translation: ABG27970.1.
    DQ654402 Genomic DNA. Translation: ABG27972.1.
    DQ654403 Genomic DNA. Translation: ABG27974.1.
    DQ654404 Genomic DNA. Translation: ABG27976.1.
    DQ654405 Genomic DNA. Translation: ABG27978.1.
    DQ654406 Genomic DNA. Translation: ABG27980.1.
    DQ654407 Genomic DNA. Translation: ABG27982.1.
    DQ654408 Genomic DNA. Translation: ABG27984.1.
    DQ654409 Genomic DNA. Translation: ABG27986.1.
    DQ654410 Genomic DNA. Translation: ABG27988.1.
    DQ654411 Genomic DNA. Translation: ABG27990.1.
    DQ654412 Genomic DNA. Translation: ABG27992.1.
    DQ654413 Genomic DNA. Translation: ABG27994.1.
    DQ654414 Genomic DNA. Translation: ABG27996.1.
    DQ654415 Genomic DNA. Translation: ABG27998.1.
    DQ654416 Genomic DNA. Translation: ABG28000.1.
    DQ654417 Genomic DNA. Translation: ABG28002.1.
    DQ654418 Genomic DNA. Translation: ABG28004.1.
    DQ654419 Genomic DNA. Translation: ABG28006.1.
    DQ654420 Genomic DNA. Translation: ABG28008.1.
    DQ654421 Genomic DNA. Translation: ABG28010.1.
    DQ654422 Genomic DNA. Translation: ABG28012.1.
    DQ654423 Genomic DNA. Translation: ABG28014.1.
    DQ654424 Genomic DNA. Translation: ABG28016.1.
    DQ654425 Genomic DNA. Translation: ABG28018.1.
    DQ654426 Genomic DNA. Translation: ABG28020.1.
    DQ654427 Genomic DNA. Translation: ABG28022.1.
    DQ654428 Genomic DNA. Translation: ABG28024.1.
    DQ654429 Genomic DNA. Translation: ABG28026.1.
    DQ654430 Genomic DNA. Translation: ABG28028.1.
    DQ654431 Genomic DNA. Translation: ABG28030.1.
    DQ654432 Genomic DNA. Translation: ABG28032.1.
    DQ654433 Genomic DNA. Translation: ABG28034.1.
    DQ654434 Genomic DNA. Translation: ABG28036.1.
    DQ654435 Genomic DNA. Translation: ABG28038.1.
    DQ654436 Genomic DNA. Translation: ABG28040.1.
    DQ654437 Genomic DNA. Translation: ABG28042.1.
    DQ654438 Genomic DNA. Translation: ABG28044.1.
    DQ654439 Genomic DNA. Translation: ABG28046.1.
    DQ654440 Genomic DNA. Translation: ABG28048.1.
    DQ654441 Genomic DNA. Translation: ABG28050.1.
    DQ654442 Genomic DNA. Translation: ABG28052.1.
    DQ654443 Genomic DNA. Translation: ABG28054.1.
    AF004341 Genomic DNA. Translation: AAB63452.1.
    PIRiA00482. OTHU3.
    RefSeqiYP_003024032.1. NC_012920.1.

    Genome annotation databases

    EnsembliENST00000362079; ENSP00000354982; ENSG00000198938.
    GeneIDi4514.
    KEGGihsa:4514.

    Polymorphism databases

    DMDMi6648058.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J01415 Genomic DNA. Translation: AAB58949.2 .
    V00662 Genomic DNA. Translation: CAA24032.1 .
    DQ654394 Genomic DNA. Translation: ABG27956.1 .
    DQ654395 Genomic DNA. Translation: ABG27958.1 .
    DQ654396 Genomic DNA. Translation: ABG27960.1 .
    DQ654397 Genomic DNA. Translation: ABG27962.1 .
    DQ654398 Genomic DNA. Translation: ABG27964.1 .
    DQ654399 Genomic DNA. Translation: ABG27966.1 .
    DQ654400 Genomic DNA. Translation: ABG27968.1 .
    DQ654401 Genomic DNA. Translation: ABG27970.1 .
    DQ654402 Genomic DNA. Translation: ABG27972.1 .
    DQ654403 Genomic DNA. Translation: ABG27974.1 .
    DQ654404 Genomic DNA. Translation: ABG27976.1 .
    DQ654405 Genomic DNA. Translation: ABG27978.1 .
    DQ654406 Genomic DNA. Translation: ABG27980.1 .
    DQ654407 Genomic DNA. Translation: ABG27982.1 .
    DQ654408 Genomic DNA. Translation: ABG27984.1 .
    DQ654409 Genomic DNA. Translation: ABG27986.1 .
    DQ654410 Genomic DNA. Translation: ABG27988.1 .
    DQ654411 Genomic DNA. Translation: ABG27990.1 .
    DQ654412 Genomic DNA. Translation: ABG27992.1 .
    DQ654413 Genomic DNA. Translation: ABG27994.1 .
    DQ654414 Genomic DNA. Translation: ABG27996.1 .
    DQ654415 Genomic DNA. Translation: ABG27998.1 .
    DQ654416 Genomic DNA. Translation: ABG28000.1 .
    DQ654417 Genomic DNA. Translation: ABG28002.1 .
    DQ654418 Genomic DNA. Translation: ABG28004.1 .
    DQ654419 Genomic DNA. Translation: ABG28006.1 .
    DQ654420 Genomic DNA. Translation: ABG28008.1 .
    DQ654421 Genomic DNA. Translation: ABG28010.1 .
    DQ654422 Genomic DNA. Translation: ABG28012.1 .
    DQ654423 Genomic DNA. Translation: ABG28014.1 .
    DQ654424 Genomic DNA. Translation: ABG28016.1 .
    DQ654425 Genomic DNA. Translation: ABG28018.1 .
    DQ654426 Genomic DNA. Translation: ABG28020.1 .
    DQ654427 Genomic DNA. Translation: ABG28022.1 .
    DQ654428 Genomic DNA. Translation: ABG28024.1 .
    DQ654429 Genomic DNA. Translation: ABG28026.1 .
    DQ654430 Genomic DNA. Translation: ABG28028.1 .
    DQ654431 Genomic DNA. Translation: ABG28030.1 .
    DQ654432 Genomic DNA. Translation: ABG28032.1 .
    DQ654433 Genomic DNA. Translation: ABG28034.1 .
    DQ654434 Genomic DNA. Translation: ABG28036.1 .
    DQ654435 Genomic DNA. Translation: ABG28038.1 .
    DQ654436 Genomic DNA. Translation: ABG28040.1 .
    DQ654437 Genomic DNA. Translation: ABG28042.1 .
    DQ654438 Genomic DNA. Translation: ABG28044.1 .
    DQ654439 Genomic DNA. Translation: ABG28046.1 .
    DQ654440 Genomic DNA. Translation: ABG28048.1 .
    DQ654441 Genomic DNA. Translation: ABG28050.1 .
    DQ654442 Genomic DNA. Translation: ABG28052.1 .
    DQ654443 Genomic DNA. Translation: ABG28054.1 .
    AF004341 Genomic DNA. Translation: AAB63452.1 .
    PIRi A00482. OTHU3.
    RefSeqi YP_003024032.1. NC_012920.1.

    3D structure databases

    ProteinModelPortali P00414.
    SMRi P00414. Positions 3-261.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110617. 3 interactions.
    IntActi P00414. 6 interactions.

    Protein family/group databases

    TCDBi 3.D.4.11.1. the proton-translocating cytochrome oxidase (cox) superfamily.

    Polymorphism databases

    DMDMi 6648058.

    Proteomic databases

    MaxQBi P00414.
    PaxDbi P00414.
    PRIDEi P00414.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000362079 ; ENSP00000354982 ; ENSG00000198938 .
    GeneIDi 4514.
    KEGGi hsa:4514.

    Organism-specific databases

    CTDi 4514.
    GeneCardsi GCMTP009209.
    GeneReviewsi MT-CO3.
    H-InvDB HIX0060139.
    HGNCi HGNC:7422. MT-CO3.
    HPAi HPA042788.
    MIMi 220110. phenotype.
    516050. gene.
    535000. phenotype.
    550500. phenotype.
    neXtProti NX_P00414.
    Orphaneti 99845. Genetic recurrent myoglobinuria.
    254905. Isolated cytochrome C oxidase deficiency.
    104. Leber hereditary optic neuropathy.
    255210. Maternally-inherited Leigh syndrome.
    550. MELAS syndrome.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1845.
    HOGENOMi HOG000264954.
    HOVERGENi HBG016686.
    InParanoidi P00414.
    KOi K02262.
    OMAi IFLATEV.
    OrthoDBi EOG72VH70.
    PhylomeDBi P00414.
    TreeFami TF343435.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    GeneWikii MT-CO3.
    NextBioi 17434.
    PROi P00414.
    SOURCEi Search...

    Gene expression databases

    Bgeei P00414.
    Genevestigatori P00414.

    Family and domain databases

    Gene3Di 1.20.120.80. 1 hit.
    InterProi IPR024791. Cyt_c/ubiquinol_Oxase_su3.
    IPR013833. Cyt_c_oxidase_su3_a-hlx.
    IPR000298. Cyt_c_oxidase_su3_dom.
    [Graphical view ]
    PANTHERi PTHR11403. PTHR11403. 1 hit.
    Pfami PF00510. COX3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF81452. SSF81452. 1 hit.
    PROSITEi PS50253. COX3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. Kogelnik A., Brown M.
      Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION TO 118.
    3. "In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India."
      Thangaraj K., Chaubey G., Singh V.K., Vanniarajan A., Thanseem I., Reddy A.G., Singh L.
      BMC Genomics 7:151-151(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-31.
    4. Swanson K.V., Griffiss J.
      Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 167-261.
      Tissue: Endometrial adenocarcinoma.
    5. "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base."
      Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E.
      Hum. Genet. 88:139-145(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ILE-91; ARG-177 AND ILE-254.
    6. "Cytochrome c oxidase mutations in Leber hereditary optic neuropathy."
      Johns D.R., Neufeld M.J.
      Biochem. Biophys. Res. Commun. 196:810-815(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LHON SER-78 AND THR-200.
    7. "A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene."
      Manfredi G., Schon E.A., Moraes C.T., Bonilla E., Berry G.T., Sladky J.T., Dimauro S.
      Neuromuscul. Disord. 5:391-398(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LEU-251.
    8. "A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria."
      Keightley J.A., Hoffbuhr K.C., Burton M.D., Salas V.M., Johnston W.S.W., Penn A.M.W., Buist N.R.M., Kennaway N.G.
      Nat. Genet. 12:410-416(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MT-C4D 94-PHE--PHE-98 DEL.
    9. "Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome."
      Rieder M.J., Taylor S.L., Tobe V.O., Nickerson D.A.
      Nucleic Acids Res. 26:967-973(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARG-3 AND SER-35.

    Entry informationi

    Entry nameiCOX3_HUMAN
    AccessioniPrimary (citable) accession number: P00414
    Secondary accession number(s): Q14Y83
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: May 30, 2000
    Last modified: October 1, 2014
    This is version 146 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 entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    2. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3