BAG family molecular chaperone regulator 5

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• chaperone binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • "BAG5 inhibits parkin and enhances dopaminergic neuron degeneration."
    Kalia S.K., Lee S., Smith P.D., Liu L., Crocker S.J., Thorarinsdottir T.E., Glover J.R., Fon E.A., Park D.S., Lozano A.M.
    Neuron 44:931-945(2004) [PubMed] [Europe PMC] [Abstract]
• protein kinase binding Source: ParkinsonsUK-UCLInferred from physical interactionⁱ
  • "BAG5 protects against mitochondrial oxidative damage through regulating PINK1 degradation."
    Wang X., Guo J., Fei E., Mu Y., He S., Che X., Tan J., Xia K., Zhang Z., Wang G., Tang B.
    PLoS ONE 9:e86276-e86276(2014) [PubMed] [Europe PMC] [Abstract]
• ubiquitin protein ligase binding Source: ParkinsonsUK-UCLInferred from physical interactionⁱ
  • Ref.6

    "High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy."
    Hasson S.A., Kane L.A., Yamano K., Huang C.H., Sliter D.A., Buehler E., Wang C., Heman-Ackah S.M., Hessa T., Guha R., Martin S.E., Youle R.J.
    Nature 504:291-295(2013) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH PRKN.

GO - Biological processⁱ

• Golgi organization Source: ParkinsonsUK-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease."
    International Parkinson’s Disease Genomics Consortium
    Beilina A., Rudenko I.N., Kaganovich A., Civiero L., Chau H., Kalia S.K., Kalia L.V., Lobbestael E., Chia R., Ndukwe K., Ding J., Nalls M.A., Olszewski M., Hauser D.N., Kumaran R., Lozano A.M., Baekelandt V., Greene L.E.

    , Taymans J.M., Greggio E., Cookson M.R., Nalls M.A., Plagnol V., Hernandez D.G., Sharma M., Sheerin U.M., Saad M., Simon-Sanchez J., Schulte C., Lesage S., Sveinbjornsdottir S., Arepalli S., Barker R., Ben-Shlomo Y., Berendse H.W., Berg D., Bhatia K., de Bie R.M., Biffi A., Bloem B., Bochdanovits Z., Bonin M., Bras J.M., Brockmann K., Brooks J., Burn D.J., Charlesworth G., Chen H., Chinnery P.F., Chong S., Clarke C.E., Cookson M.R., Cooper J.M., Corvol J.C., Counsell C., Damier P., Dartigues J.F., Deloukas P., Deuschl G., Dexter D.T., van Dijk K.D., Dillman A., Durif F., Durr A., Edkins S., Evans J.R., Foltynie T., Gao J., Gardner M., Gibbs J.R., Goate A., Gray E., Guerreiro R., Gustafsson O., Harris C., van Hilten J.J., Hofman A., Hollenbeck A., Holton J., Hu M., Huang X., Huber H., Hudson G., Hunt S.E., Huttenlocher J., Illig T., Jonsson P.V., Lambert J.C., Langford C., Lees A., Lichtner P., Limousin P., Lopez G., Lorenz D., McNeill A., Moorby C., Moore M., Morris H.R., Morrison K.E., Mudanohwo E., O'Sullivan S.S., Pearson J., Perlmutter J.S., Petursson H., Pollak P., Post B., Potter S., Ravina B., Revesz T., Riess O., Rivadeneira F., Rizzu P., Ryten M., Sawcer S., Schapira A., Scheffer H., Shaw K., Shoulson I., Sidransky E., Smith C., Spencer C.C., Stefansson H., Steinberg S., Stockton J.D., Strange A., Talbot K., Tanner C.M., Tashakkori-Ghanbaria A., Tison F., Trabzuni D., Traynor B.J., Uitterlinden A.G., Velseboer D., Vidailhet M., Walker R., van de Warrenburg B., Wickremaratchi M., Williams N., Williams-Gray C.H., Winder-Rhodes S., Stefansson K., Martinez M., Hardy J., Heutink P., Brice A., Gasser T., Singleton A.B., Wood N.W., Arepalli S., Cookson M.R., Dillman A., Ferrucci L., Gibbs J.R., Hernandez D.G., Johnson R., Longo D.L., Majounie E., Nalls M.A., O'Brien R., Singleton A.B., Traynor B.J., Troncoso J., van der Brug M., Zielke H.R., Zonderman A.B.
    Proc. Natl. Acad. Sci. U.S.A. 111:2626-2631(2014) [PubMed] [Europe PMC] [Abstract]
• negative regulation of neuron projection development Source: ParkinsonsUK-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease."
    International Parkinson’s Disease Genomics Consortium
    Beilina A., Rudenko I.N., Kaganovich A., Civiero L., Chau H., Kalia S.K., Kalia L.V., Lobbestael E., Chia R., Ndukwe K., Ding J., Nalls M.A., Olszewski M., Hauser D.N., Kumaran R., Lozano A.M., Baekelandt V., Greene L.E.

    , Taymans J.M., Greggio E., Cookson M.R., Nalls M.A., Plagnol V., Hernandez D.G., Sharma M., Sheerin U.M., Saad M., Simon-Sanchez J., Schulte C., Lesage S., Sveinbjornsdottir S., Arepalli S., Barker R., Ben-Shlomo Y., Berendse H.W., Berg D., Bhatia K., de Bie R.M., Biffi A., Bloem B., Bochdanovits Z., Bonin M., Bras J.M., Brockmann K., Brooks J., Burn D.J., Charlesworth G., Chen H., Chinnery P.F., Chong S., Clarke C.E., Cookson M.R., Cooper J.M., Corvol J.C., Counsell C., Damier P., Dartigues J.F., Deloukas P., Deuschl G., Dexter D.T., van Dijk K.D., Dillman A., Durif F., Durr A., Edkins S., Evans J.R., Foltynie T., Gao J., Gardner M., Gibbs J.R., Goate A., Gray E., Guerreiro R., Gustafsson O., Harris C., van Hilten J.J., Hofman A., Hollenbeck A., Holton J., Hu M., Huang X., Huber H., Hudson G., Hunt S.E., Huttenlocher J., Illig T., Jonsson P.V., Lambert J.C., Langford C., Lees A., Lichtner P., Limousin P., Lopez G., Lorenz D., McNeill A., Moorby C., Moore M., Morris H.R., Morrison K.E., Mudanohwo E., O'Sullivan S.S., Pearson J., Perlmutter J.S., Petursson H., Pollak P., Post B., Potter S., Ravina B., Revesz T., Riess O., Rivadeneira F., Rizzu P., Ryten M., Sawcer S., Schapira A., Scheffer H., Shaw K., Shoulson I., Sidransky E., Smith C., Spencer C.C., Stefansson H., Steinberg S., Stockton J.D., Strange A., Talbot K., Tanner C.M., Tashakkori-Ghanbaria A., Tison F., Trabzuni D., Traynor B.J., Uitterlinden A.G., Velseboer D., Vidailhet M., Walker R., van de Warrenburg B., Wickremaratchi M., Williams N., Williams-Gray C.H., Winder-Rhodes S., Stefansson K., Martinez M., Hardy J., Heutink P., Brice A., Gasser T., Singleton A.B., Wood N.W., Arepalli S., Cookson M.R., Dillman A., Ferrucci L., Gibbs J.R., Hernandez D.G., Johnson R., Longo D.L., Majounie E., Nalls M.A., O'Brien R., Singleton A.B., Traynor B.J., Troncoso J., van der Brug M., Zielke H.R., Zonderman A.B.
    Proc. Natl. Acad. Sci. U.S.A. 111:2626-2631(2014) [PubMed] [Europe PMC] [Abstract]
• negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway Source: ParkinsonsUK-UCLInferred from direct assayⁱ
  • "BAG5 protects against mitochondrial oxidative damage through regulating PINK1 degradation."
    Wang X., Guo J., Fei E., Mu Y., He S., Che X., Tan J., Xia K., Zhang Z., Wang G., Tang B.
    PLoS ONE 9:e86276-e86276(2014) [PubMed] [Europe PMC] [Abstract]
• negative regulation of proteasomal ubiquitin-dependent protein catabolic process Source: ParkinsonsUK-UCLInferred from direct assayⁱ
  • "BAG5 protects against mitochondrial oxidative damage through regulating PINK1 degradation."
    Wang X., Guo J., Fei E., Mu Y., He S., Che X., Tan J., Xia K., Zhang Z., Wang G., Tang B.
    PLoS ONE 9:e86276-e86276(2014) [PubMed] [Europe PMC] [Abstract]
• negative regulation of protein refolding Source: BHF-UCL <p>Inferred from Sequence or Structural Similarity <br />Used for any analysis based on sequence alignment, structure comparison, or evaluation of sequence features such as composition.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iss">GO evidence code guide</a></p> Inferred from sequence or structural similarityⁱ
  • "BAG5 inhibits parkin and enhances dopaminergic neuron degeneration."
    Kalia S.K., Lee S., Smith P.D., Liu L., Crocker S.J., Thorarinsdottir T.E., Glover J.R., Fon E.A., Park D.S., Lozano A.M.
    Neuron 44:931-945(2004) [PubMed] [Europe PMC] [Abstract]
• negative regulation of protein ubiquitination Source: ARUK-UCLInferred from direct assayⁱ
  • "The BAG2 and BAG5 proteins inhibit the ubiquitination of pathogenic ataxin3-80Q."
    Che X.Q., Tang B.S., Wang H.F., Yan X.X., Jiang H., Shen L., Xu Q., Wang G.H., Zhang H.N., Wang C.Y., Guo J.F.
    Int. J. Neurosci. 125:390-394(2015) [PubMed] [Europe PMC] [Abstract]
• negative regulation of ubiquitin-protein transferase activity Source: BHF-UCLInferred from sequence or structural similarityⁱ
  • "BAG5 inhibits parkin and enhances dopaminergic neuron degeneration."
    Kalia S.K., Lee S., Smith P.D., Liu L., Crocker S.J., Thorarinsdottir T.E., Glover J.R., Fon E.A., Park D.S., Lozano A.M.
    Neuron 44:931-945(2004) [PubMed] [Europe PMC] [Abstract]
• neuron death Source: BHF-UCLInferred from sequence or structural similarityⁱ
  • "BAG5 inhibits parkin and enhances dopaminergic neuron degeneration."
    Kalia S.K., Lee S., Smith P.D., Liu L., Crocker S.J., Thorarinsdottir T.E., Glover J.R., Fon E.A., Park D.S., Lozano A.M.
    Neuron 44:931-945(2004) [PubMed] [Europe PMC] [Abstract]
• protein folding Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • Ref.1

    "An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators."
    Takayama S., Xie Z., Reed J.C.
    J. Biol. Chem. 274:781-786(1999) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
• protein stabilization Source: ARUK-UCLInferred from direct assayⁱ
  • "The BAG2 and BAG5 proteins inhibit the ubiquitination of pathogenic ataxin3-80Q."
    Che X.Q., Tang B.S., Wang H.F., Yan X.X., Jiang H., Shen L., Xu Q., Wang G.H., Zhang H.N., Wang C.Y., Guo J.F.
    Int. J. Neurosci. 125:390-394(2015) [PubMed] [Europe PMC] [Abstract]
• regulation of cellular response to heat Source: Reactome
• regulation of inclusion body assembly Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "BAG5 inhibits parkin and enhances dopaminergic neuron degeneration."
    Kalia S.K., Lee S., Smith P.D., Liu L., Crocker S.J., Thorarinsdottir T.E., Glover J.R., Fon E.A., Park D.S., Lozano A.M.
    Neuron 44:931-945(2004) [PubMed] [Europe PMC] [Abstract]
• regulation of ubiquitin-protein transferase activity Source: ParkinsonsUK-UCLTraceable author statementⁱ
  • Ref.6

    "High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy."
    Hasson S.A., Kane L.A., Yamano K., Huang C.H., Sliter D.A., Buehler E., Wang C., Heman-Ackah S.M., Hessa T., Guha R., Martin S.E., Youle R.J.
    Nature 504:291-295(2013) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH PRKN.

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• chaperone binding Source: BHF-UCLInferred from physical interactionⁱ
  • "BAG5 inhibits parkin and enhances dopaminergic neuron degeneration."
    Kalia S.K., Lee S., Smith P.D., Liu L., Crocker S.J., Thorarinsdottir T.E., Glover J.R., Fon E.A., Park D.S., Lozano A.M.
    Neuron 44:931-945(2004) [PubMed] [Europe PMC] [Abstract]
• protein kinase binding Source: ParkinsonsUK-UCLInferred from physical interactionⁱ
  • "BAG5 protects against mitochondrial oxidative damage through regulating PINK1 degradation."
    Wang X., Guo J., Fei E., Mu Y., He S., Che X., Tan J., Xia K., Zhang Z., Wang G., Tang B.
    PLoS ONE 9:e86276-e86276(2014) [PubMed] [Europe PMC] [Abstract]
• ubiquitin protein ligase binding Source: ParkinsonsUK-UCLInferred from physical interactionⁱ
  • Ref.6

    "High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy."
    Hasson S.A., Kane L.A., Yamano K., Huang C.H., Sliter D.A., Buehler E., Wang C., Heman-Ackah S.M., Hessa T., Guha R., Martin S.E., Youle R.J.
    Nature 504:291-295(2013) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH PRKN.

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Domains and Repeats

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domainⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MDMGNQHPSI SRLQEIQKEV KSVEQQVIGF SGLSDDKNYK KLERILTKQL 
        60         70         80         90        100
FEIDSVDTEG KGDIQQARKR AAQETERLLK ELEQNANHPH RIEIQNIFEE 
       110        120        130        140        150
AQSLVREKIV PFYNGGNCVT DEFEEGIQDI ILRLTHVKTG GKISLRKARY 
       160        170        180        190        200
HTLTKICAVQ EIIEDCMKKQ PSLPLSEDAH PSVAKINFVM CEVNKARGVL 
       210        220        230        240        250
IALLMGVNNN ETCRHLSCVL SGLIADLDAL DVCGRTEIRN YRREVVEDIN 
       260        270        280        290        300
KLLKYLDLEE EADTTKAFDL RQNHSILKIE KVLKRMREIK NELLQAQNPS 
       310        320        330        340        350
ELYLSSKTEL QGLIGQLDEV SLEKNPCIRE ARRRAVIEVQ TLITYIDLKE 
       360        370        380        390        400
ALEKRKLFAC EEHPSHKAVW NVLGNLSEIQ GEVLSFDGNR TDKNYIRLEE 
       410        420        430        440 
LLTKQLLALD AVDPQGEEKC KAARKQAVRL AQNILSYLDL KSDEWEY    

        10         20         30         40         50
MRFHWLPTLS EPFDRNQELE TCIRPLWTPS GSACETEHNK SMDMGNQHPS 
        60         70         80         90        100
ISRLQEIQKE VKSVEQQVIG FSGLSDDKNY KKLERILTKQ LFEIDSVDTE 
       110        120        130        140        150
GKGDIQQARK RAAQETERLL KELEQNANHP HRIEIQNIFE EAQSLVREKI 
       160        170        180        190        200
VPFYNGGNCV TDEFEEGIQD IILRLTHVKT GGKISLRKAR YHTLTKICAV 
       210        220        230        240        250
QEIIEDCMKK QPSLPLSEDA HPSVAKINFV MCEVNKARGV LIALLMGVNN 
       260        270        280        290        300
NETCRHLSCV LSGLIADLDA LDVCGRTEIR NYRREVVEDI NKLLKYLDLE 
       310        320        330        340        350
EEADTTKAFD LRQNHSILKI EKVLKRMREI KNELLQAQNP SELYLSSKTE 
       360        370        380        390        400
LQGLIGQLDE VSLEKNPCIR EARRRAVIEV QTLITYIDLK EALEKRKLFA 
       410        420        430        440        450
CEEHPSHKAV WNVLGNLSEI QGEVLSFDGN RTDKNYIRLE ELLTKQLLAL 
       460        470        480 
DAVDPQGEEK CKAARKQAVR LAQNILSYLD LKSDEWEY              

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautionⁱ

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. Human chromosome 14
   Human chromosome 14: entries, gene names and cross-references to MIM
2. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references
3. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations
4. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
5. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot