C-C motif chemokine 4

<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

Caution

<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

• CCR1 chemokine receptor binding Source: UniProtKB <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
  • "Monocyte chemotactic protein-3 (MCP3) interacts with multiple leukocyte receptors. C-C CKR1, a receptor for macrophage inflammatory protein-1 alpha/Rantes, is also a functional receptor for MCP3."
    Ben-Baruch A., Xu L., Young P.R., Bengali K., Oppenheim J.J., Wang J.M.
    J. Biol. Chem. 270:22123-22128(1995) [PubMed] [Europe PMC] [Abstract]
• CCR5 chemokine receptor binding Source: UniProtKBInferred from physical interactionⁱ
  • "Extracellular cysteines of CCR5 are required for chemokine binding, but dispensable for HIV-1 coreceptor activity."
    Blanpain C., Lee B., Vakili J., Doranz B.J., Govaerts C., Migeotte I., Sharron M., Dupriez V., Vassart G., Doms R.W., Parmentier M.
    J. Biol. Chem. 274:18902-18908(1999) [PubMed] [Europe PMC] [Abstract]
  • "Lipopolysaccharide inhibits HIV-1 infection of monocyte- derived macrophages through direct and sustained down-regulation of CC chemokine receptor 5."
    Franchin G., Zybarth G., Dai W.W., Dubrovsky L., Reiling N., Schmidtmayerova H., Bukrinsky M., Sherry B.
    J. Immunol. 164:2592-2601(2000) [PubMed] [Europe PMC] [Abstract]
• CCR chemokine receptor binding Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• chemokine activity Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cytokine activity 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

    "Identification, cloning, and characterization of an immune activation gene."
    Lipes M.A., Napolitano M., Jeang K.-T., Chang N.T., Leonard W.J.
    Proc. Natl. Acad. Sci. U.S.A. 85:9704-9708(1988) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
• identical protein binding Source: IntActInferred from physical interactionⁱ
  • "Polymerization of MIP-1 chemokine (CCL3 and CCL4) and clearance of MIP-1 by insulin-degrading enzyme."
    Ren M., Guo Q., Guo L., Lenz M., Qian F., Koenen R.R., Xu H., Schilling A.B., Weber C., Ye R.D., Dinner A.R., Tang W.J.
    EMBO J. 29:3952-3966(2010) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• cell adhesion Source: ProtIncTraceable author statementⁱ
  • "Induction of interactions between CD44 and hyaluronic acid by a short exposure of human T cells to diverse pro-inflammatory mediators."
    Ariel A., Lider O., Brill A., Cahalon L., Savion N., Varon D., Hershkoviz R.
    Immunology 100:345-351(2000) [PubMed] [Europe PMC] [Abstract]
• cell-cell signaling Source: ProtIncTraceable author statementⁱ
  • Ref.2

    "Mitogenic activation of human T cells induces two closely related genes which share structural similarities with a new family of secreted factors."
    Zipfel P.F., Balke J., Irving S.G., Kelly K., Siebenlist U.
    J. Immunol. 142:1582-1590(1989) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
• cellular response to interferon-gamma Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cellular response to interleukin-1 Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cellular response to tumor necrosis factor Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• chemokine-mediated signaling pathway Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cytokine-mediated signaling pathway Source: Reactome
• establishment or maintenance of cell polarity Source: ProtIncTraceable author statementⁱ
  • "Roles of chemokines and receptor polarization in NK-target cell interactions."
    Nieto M., Navarro F., Perez-Villar J.J., del Pozo M.A., Gonzalez-Amaro R., Mellado M., Frade J.M., Martinez-A C., Lopez-Botet M., Sanchez-Madrid F.
    J. Immunol. 161:3330-3339(1998) [PubMed] [Europe PMC] [Abstract]
• G protein-coupled receptor signaling pathway Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• immune response Source: ProtIncTraceable author statementⁱ
  • "Induction of interactions between CD44 and hyaluronic acid by a short exposure of human T cells to diverse pro-inflammatory mediators."
    Ariel A., Lider O., Brill A., Cahalon L., Savion N., Varon D., Hershkoviz R.
    Immunology 100:345-351(2000) [PubMed] [Europe PMC] [Abstract]
• inflammatory response Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• lymphocyte chemotaxis Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• monocyte chemotaxis Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• negative regulation by host of viral transcription Source: UniProtKB <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
  • "In vitro correlates of HIV-2-mediated HIV-1 protection."
    Kokkotou E.G., Sankale J.L., Mani I., Gueye-Ndiaye A., Schwartz D., Essex M.E., Mboup S., Kanki P.J.
    Proc. Natl. Acad. Sci. U.S.A. 97:6797-6802(2000) [PubMed] [Europe PMC] [Abstract]
• neutrophil chemotaxis Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of calcium ion transport Source: UniProtKBInferred from direct assayⁱ
  • "Cloning and functional expression of CC CKR5, a human monocyte CC chemokine receptor selective for MIP-1(alpha), MIP-1(beta), and RANTES."
    Combadiere C., Ahuja S.K., Tiffany H.L., Murphy P.M.
    J. Leukoc. Biol. 60:147-152(1996) [PubMed] [Europe PMC] [Abstract]
• positive regulation of calcium-mediated signaling Source: UniProtKB <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
  • "Lipopolysaccharide inhibits HIV-1 infection of monocyte- derived macrophages through direct and sustained down-regulation of CC chemokine receptor 5."
    Franchin G., Zybarth G., Dai W.W., Dubrovsky L., Reiling N., Schmidtmayerova H., Bukrinsky M., Sherry B.
    J. Immunol. 164:2592-2601(2000) [PubMed] [Europe PMC] [Abstract]
• positive regulation of ERK1 and ERK2 cascade Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of GTPase activity Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of natural killer cell chemotaxis Source: UniProtKBInferred from direct assayⁱ
  • "Monocyte chemotactic protein-3 (MCP3) interacts with multiple leukocyte receptors. C-C CKR1, a receptor for macrophage inflammatory protein-1 alpha/Rantes, is also a functional receptor for MCP3."
    Ben-Baruch A., Xu L., Young P.R., Bengali K., Oppenheim J.J., Wang J.M.
    J. Biol. Chem. 270:22123-22128(1995) [PubMed] [Europe PMC] [Abstract]
• response to toxic substance Source: UniProtKBInferred from direct assayⁱ
  • "In vitro correlates of HIV-2-mediated HIV-1 protection."
    Kokkotou E.G., Sankale J.L., Mani I., Gueye-Ndiaye A., Schwartz D., Essex M.E., Mboup S., Kanki P.J.
    Proc. Natl. Acad. Sci. U.S.A. 97:6797-6802(2000) [PubMed] [Europe PMC] [Abstract]
• response to virus Source: ProtIncTraceable author statementⁱ
  • "CXCR4 and CCR5 on human thymocytes: biological function and role in HIV-1 infection."
    Zaitseva M.B., Lee S., Rabin R.L., Tiffany H.L., Farber J.M., Peden K.W., Murphy P.M., Golding H.
    J. Immunol. 161:3103-3113(1998) [PubMed] [Europe PMC] [Abstract]
• signal transduction Source: ProtIncTraceable author statementⁱ
  • "Induction of interactions between CD44 and hyaluronic acid by a short exposure of human T cells to diverse pro-inflammatory mediators."
    Ariel A., Lider O., Brill A., Cahalon L., Savion N., Varon D., Hershkoviz R.
    Immunology 100:345-351(2000) [PubMed] [Europe PMC] [Abstract]
  • "Dendritic cells express multiple chemokine receptors used as coreceptors for HIV entry."
    Rubbert A., Combadiere C., Ostrowski M., Arthos J., Dybul M., Machado E., Cohn M.A., Hoxie J.A., Murphy P.M., Fauci A.S., Weissman D.
    J. Immunol. 160:3933-3941(1998) [PubMed] [Europe PMC] [Abstract]

<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

Keywords - Cellular componentⁱ

<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

Miscellaneous 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

Amino acid modifications

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationⁱ

Keywords - PTMⁱ

Proteomic 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

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductionⁱ

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

• CCR1 chemokine receptor binding Source: UniProtKBInferred from physical interactionⁱ
  • "Monocyte chemotactic protein-3 (MCP3) interacts with multiple leukocyte receptors. C-C CKR1, a receptor for macrophage inflammatory protein-1 alpha/Rantes, is also a functional receptor for MCP3."
    Ben-Baruch A., Xu L., Young P.R., Bengali K., Oppenheim J.J., Wang J.M.
    J. Biol. Chem. 270:22123-22128(1995) [PubMed] [Europe PMC] [Abstract]
• CCR5 chemokine receptor binding Source: UniProtKBInferred from physical interactionⁱ
  • "Extracellular cysteines of CCR5 are required for chemokine binding, but dispensable for HIV-1 coreceptor activity."
    Blanpain C., Lee B., Vakili J., Doranz B.J., Govaerts C., Migeotte I., Sharron M., Dupriez V., Vassart G., Doms R.W., Parmentier M.
    J. Biol. Chem. 274:18902-18908(1999) [PubMed] [Europe PMC] [Abstract]
  • "Lipopolysaccharide inhibits HIV-1 infection of monocyte- derived macrophages through direct and sustained down-regulation of CC chemokine receptor 5."
    Franchin G., Zybarth G., Dai W.W., Dubrovsky L., Reiling N., Schmidtmayerova H., Bukrinsky M., Sherry B.
    J. Immunol. 164:2592-2601(2000) [PubMed] [Europe PMC] [Abstract]
• CCR chemokine receptor binding Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• chemokine activity Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cytokine activity Source: ProtIncTraceable author statementⁱ
  • Ref.1

    "Identification, cloning, and characterization of an immune activation gene."
    Lipes M.A., Napolitano M., Jeang K.-T., Chang N.T., Leonard W.J.
    Proc. Natl. Acad. Sci. U.S.A. 85:9704-9708(1988) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
• identical protein binding Source: IntActInferred from physical interactionⁱ
  • "Polymerization of MIP-1 chemokine (CCL3 and CCL4) and clearance of MIP-1 by insulin-degrading enzyme."
    Ren M., Guo Q., Guo L., Lenz M., Qian F., Koenen R.R., Xu H., Schilling A.B., Weber C., Ye R.D., Dinner A.R., Tang W.J.
    EMBO J. 29:3952-3966(2010) [PubMed] [Europe PMC] [Abstract]

Protein-protein interaction databases

Chemistry databases

Miscellaneous 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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingⁱ: The displayed sequence is further processed into a mature form.

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

        10         20         30         40         50
MKLCVTVLSL LMLVAAFCSP ALSAPMGSDP PTACCFSYTA RKLPRNFVVD 
        60         70         80         90 
YYETSSLCSQ PAVVFQTKRS KQVCADPSES WVQEYVYDLE LN         

Experimental Info

Natural variant

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

• 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry 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. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references
2. SIMILARITY comments
   Index of protein domains and families
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
6. Human chromosome 17
   Human chromosome 17: entries, gene names and cross-references to MIM