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O15303

- GRM6_HUMAN

UniProt

O15303 - GRM6_HUMAN

Protein

Metabotropic glutamate receptor 6

Gene

GRM6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 2 (16 Jun 2009)
      Previous versions | rss
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    Functioni

    G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity By similarity. Signaling stimulates TRPM1 channel activity and Ca2+ uptake. Required for normal vision.By similarity1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei154 – 1541GlutamateBy similarity
    Binding sitei225 – 2251GlutamateBy similarity
    Binding sitei307 – 3071GlutamateBy similarity
    Binding sitei400 – 4001GlutamateBy similarity

    GO - Molecular functioni

    1. glutamate receptor activity Source: UniProtKB
    2. G-protein coupled receptor activity Source: UniProtKB
    3. group III metabotropic glutamate receptor activity Source: RefGenome
    4. protein binding Source: UniProtKB
    5. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway Source: RefGenome
    2. detection of light stimulus involved in visual perception Source: UniProtKB
    3. detection of visible light Source: ProtInc
    4. G-protein coupled glutamate receptor signaling pathway Source: UniProtKB
    5. locomotory behavior Source: Ensembl
    6. positive regulation of calcium ion import Source: UniProtKB
    7. regulation of synaptic transmission, glutamatergic Source: RefGenome
    8. retina development in camera-type eye Source: Ensembl
    9. synaptic transmission Source: Ensembl

    Keywords - Molecular functioni

    G-protein coupled receptor, Receptor, Transducer

    Keywords - Biological processi

    Sensory transduction, Vision

    Enzyme and pathway databases

    ReactomeiREACT_18319. Class C/3 (Metabotropic glutamate/pheromone receptors).
    REACT_19231. G alpha (i) signalling events.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Metabotropic glutamate receptor 6
    Short name:
    mGluR6
    Gene namesi
    Name:GRM6
    Synonyms:GPRC1F, MGLUR6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:4598. GRM6.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication. Golgi apparatus membrane 1 Publication; Multi-pass membrane protein 1 Publication. Cell projectiondendrite By similarity
    Note: Subject to trafficking from the endoplasmic reticulum to the Golgi apparatus and then to the cell membrane.

    GO - Cellular componenti

    1. dendrite Source: UniProtKB-SubCell
    2. endoplasmic reticulum membrane Source: UniProtKB
    3. Golgi membrane Source: UniProtKB
    4. integral component of plasma membrane Source: UniProtKB
    5. new growing cell tip Source: Ensembl
    6. plasma membrane Source: Reactome
    7. presynaptic membrane Source: RefGenome

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]: A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1B is an autosomal recessive form associated with a negative electroretinogram waveform. Patients are night blind from an early age, and when maximally dark-adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system. ERGs in response to single brief flashes of light have clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b-waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicate a markedly reduced on response and a nearly normal OFF response. There is no subjective delay in the perception of suddenly appearing white vs black objects on a gray background.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti46 – 461P → L in CSNB1B; abolishes expression at the cell membrane. 2 Publications
    VAR_069817
    Natural varianti58 – 581G → R in CSNB1B; abolishes expression at the cell membrane. 2 Publications
    VAR_069818
    Natural varianti150 – 1501G → S in CSNB1B; abolishes expression at the cell membrane. 2 Publications
    VAR_030756
    Natural varianti405 – 4051I → T in CSNB1B; abolishes expression at the cell membrane. 1 Publication
    VAR_069819
    Natural varianti522 – 5221C → Y in CSNB1B; abolishes expression at the cell membrane. 2 Publications
    VAR_069820
    Natural varianti781 – 7811E → K in CSNB1B; abolishes expression at the cell membrane. 2 Publications
    VAR_030757

    Keywords - Diseasei

    Congenital stationary night blindness, Disease mutation

    Organism-specific databases

    MIMi257270. phenotype.
    Orphaneti215. Congenital stationary night blindness.
    PharmGKBiPA28995.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Chaini25 – 877853Metabotropic glutamate receptor 6PRO_0000012934Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi57 ↔ 99By similarity
    Disulfide bondi244 ↔ 536By similarity
    Glycosylationi296 – 2961N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi367 ↔ 383By similarity
    Disulfide bondi423 ↔ 430By similarity
    Glycosylationi451 – 4511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi479 – 4791N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi518 ↔ 537By similarity
    Disulfide bondi522 ↔ 540By similarity
    Disulfide bondi543 ↔ 555By similarity
    Disulfide bondi558 ↔ 571By similarity
    Glycosylationi567 – 5671N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiO15303.
    PRIDEiO15303.

    PTM databases

    PhosphoSiteiO15303.

    Expressioni

    Tissue specificityi

    Detected in melanocytes.1 Publication

    Gene expression databases

    BgeeiO15303.
    CleanExiHS_GRM6.
    GenevestigatoriO15303.

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000231188.

    Structurei

    3D structure databases

    ProteinModelPortaliO15303.
    SMRiO15303. Positions 32-851.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini25 – 585561ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini609 – 62214CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini644 – 65411ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini674 – 69724CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini719 – 74830ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini771 – 78313CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini807 – 81913ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini846 – 87732CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei586 – 60823Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei623 – 64321Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei655 – 67319Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei698 – 71821Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei749 – 77022Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei784 – 80623Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei820 – 84526Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni175 – 1773Glutamate bindingBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG295200.
    HOGENOMiHOG000218635.
    HOVERGENiHBG107965.
    KOiK04608.
    OMAiVCIAQSI.
    OrthoDBiEOG7Z0JXG.
    PhylomeDBiO15303.
    TreeFamiTF313240.

    Family and domain databases

    InterProiIPR001828. ANF_lig-bd_rcpt.
    IPR000337. GPCR_3.
    IPR011500. GPCR_3_9-Cys_dom.
    IPR017978. GPCR_3_C.
    IPR017979. GPCR_3_CS.
    IPR000162. GPCR_3_mtglu_rcpt.
    IPR000112. GPCR_3_mtglu_rcpt_6.
    IPR028082. Peripla_BP_I.
    [Graphical view]
    PfamiPF00003. 7tm_3. 1 hit.
    PF01094. ANF_receptor. 1 hit.
    PF07562. NCD3G. 1 hit.
    [Graphical view]
    PRINTSiPR00248. GPCRMGR.
    PR01056. MTABOTROPC6R.
    PR00593. MTABOTROPICR.
    SUPFAMiSSF53822. SSF53822. 1 hit.
    PROSITEiPS00979. G_PROTEIN_RECEP_F3_1. 1 hit.
    PS00980. G_PROTEIN_RECEP_F3_2. 1 hit.
    PS00981. G_PROTEIN_RECEP_F3_3. 1 hit.
    PS50259. G_PROTEIN_RECEP_F3_4. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    O15303-1 [UniParc]FASTAAdd to Basket

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    MARPRRAREP LLVALLPLAW LAQAGLARAA GSVRLAGGLT LGGLFPVHAR    50
    GAAGRACGQL KKEQGVHRLE AMLYALDRVN ADPELLPGVR LGARLLDTCS 100
    RDTYALEQAL SFVQALIRGR GDGDEVGVRC PGGVPPLRPA PPERVVAVVG 150
    ASASSVSIMV ANVLRLFAIP QISYASTAPE LSDSTRYDFF SRVVPPDSYQ 200
    AQAMVDIVRA LGWNYVSTLA SEGNYGESGV EAFVQISREA GGVCIAQSIK 250
    IPREPKPGEF SKVIRRLMET PNARGIIIFA NEDDIRRVLE AARQANLTGH 300
    FLWVGSDSWG AKTSPILSLE DVAVGAITIL PKRASIDGFD QYFMTRSLEN 350
    NRRNIWFAEF WEENFNCKLT SSGTQSDDST RKCTGEERIG RDSTYEQEGK 400
    VQFVIDAVYA IAHALHSMHQ ALCPGHTGLC PAMEPTDGRM LLQYIRAVRF 450
    NGSAGTPVMF NENGDAPGRY DIFQYQATNG SASSGGYQAV GQWAETLRLD 500
    VEALQWSGDP HEVPSSLCSL PCGPGERKKM VKGVPCCWHC EACDGYRFQV 550
    DEFTCEACPG DMRPTPNHTG CRPTPVVRLS WSSPWAAPPL LLAVLGIVAT 600
    TTVVATFVRY NNTPIVRASG RELSYVLLTG IFLIYAITFL MVAEPGAAVC 650
    AARRLFLGLG TTLSYSALLT KTNRIYRIFE QGKRSVTPPP FISPTSQLVI 700
    TFSLTSLQVV GMIAWLGARP PHSVIDYEEQ RTVDPEQARG VLKCDMSDLS 750
    LIGCLGYSLL LMVTCTVYAI KARGVPETFN EAKPIGFTMY TTCIIWLAFV 800
    PIFFGTAQSA EKIYIQTTTL TVSLSLSASV SLGMLYVPKT YVILFHPEQN 850
    VQKRKRSLKA TSTVAAPPKG EDAEAHK 877
    Length:877
    Mass (Da):95,468
    Last modified:June 16, 2009 - v2
    Checksum:i2AB27C5627B388C6
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti46 – 461P → L in CSNB1B; abolishes expression at the cell membrane. 2 Publications
    VAR_069817
    Natural varianti58 – 581G → R in CSNB1B; abolishes expression at the cell membrane. 2 Publications
    VAR_069818
    Natural varianti59 – 591Q → P No effect on location at the cell membrane. 2 Publications
    Corresponds to variant rs2645329 [ dbSNP | Ensembl ].
    VAR_059310
    Natural varianti150 – 1501G → S in CSNB1B; abolishes expression at the cell membrane. 2 Publications
    VAR_030756
    Natural varianti191 – 1911S → F in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036195
    Natural varianti227 – 2271E → V.
    Corresponds to variant rs17078898 [ dbSNP | Ensembl ].
    VAR_055876
    Natural varianti236 – 2361I → F.
    Corresponds to variant rs17078896 [ dbSNP | Ensembl ].
    VAR_055877
    Natural varianti405 – 4051I → T in CSNB1B; abolishes expression at the cell membrane. 1 Publication
    VAR_069819
    Natural varianti522 – 5221C → Y in CSNB1B; abolishes expression at the cell membrane. 2 Publications
    VAR_069820
    Natural varianti712 – 7121M → V.
    Corresponds to variant rs17078877 [ dbSNP | Ensembl ].
    VAR_055878
    Natural varianti781 – 7811E → K in CSNB1B; abolishes expression at the cell membrane. 2 Publications
    VAR_030757
    Natural varianti807 – 8071A → V.
    Corresponds to variant rs17078874 [ dbSNP | Ensembl ].
    VAR_055879
    Natural varianti817 – 8171T → S.
    Corresponds to variant rs17078857 [ dbSNP | Ensembl ].
    VAR_055880

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U82083 Genomic DNA. Translation: AAB82068.1.
    AC104117 Genomic DNA. No translation available.
    CCDSiCCDS4442.1.
    RefSeqiNP_000834.2. NM_000843.3.
    UniGeneiHs.248131.

    Genome annotation databases

    EnsembliENST00000231188; ENSP00000231188; ENSG00000113262.
    ENST00000517717; ENSP00000430767; ENSG00000113262.
    GeneIDi2916.
    KEGGihsa:2916.
    UCSCiuc003mjr.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U82083 Genomic DNA. Translation: AAB82068.1 .
    AC104117 Genomic DNA. No translation available.
    CCDSi CCDS4442.1.
    RefSeqi NP_000834.2. NM_000843.3.
    UniGenei Hs.248131.

    3D structure databases

    ProteinModelPortali O15303.
    SMRi O15303. Positions 32-851.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000231188.

    Chemistry

    BindingDBi O15303.
    ChEMBLi CHEMBL4573.
    GuidetoPHARMACOLOGYi 294.

    Protein family/group databases

    GPCRDBi Search...

    PTM databases

    PhosphoSitei O15303.

    Proteomic databases

    PaxDbi O15303.
    PRIDEi O15303.

    Protocols and materials databases

    DNASUi 2916.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000231188 ; ENSP00000231188 ; ENSG00000113262 .
    ENST00000517717 ; ENSP00000430767 ; ENSG00000113262 .
    GeneIDi 2916.
    KEGGi hsa:2916.
    UCSCi uc003mjr.3. human.

    Organism-specific databases

    CTDi 2916.
    GeneCardsi GC05M178392.
    H-InvDB HIX0024983.
    HGNCi HGNC:4598. GRM6.
    MIMi 257270. phenotype.
    604096. gene.
    neXtProti NX_O15303.
    Orphaneti 215. Congenital stationary night blindness.
    PharmGKBi PA28995.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG295200.
    HOGENOMi HOG000218635.
    HOVERGENi HBG107965.
    KOi K04608.
    OMAi VCIAQSI.
    OrthoDBi EOG7Z0JXG.
    PhylomeDBi O15303.
    TreeFami TF313240.

    Enzyme and pathway databases

    Reactomei REACT_18319. Class C/3 (Metabotropic glutamate/pheromone receptors).
    REACT_19231. G alpha (i) signalling events.

    Miscellaneous databases

    GeneWikii Metabotropic_glutamate_receptor_6.
    GenomeRNAii 2916.
    NextBioi 11559.
    PROi O15303.
    SOURCEi Search...

    Gene expression databases

    Bgeei O15303.
    CleanExi HS_GRM6.
    Genevestigatori O15303.

    Family and domain databases

    InterProi IPR001828. ANF_lig-bd_rcpt.
    IPR000337. GPCR_3.
    IPR011500. GPCR_3_9-Cys_dom.
    IPR017978. GPCR_3_C.
    IPR017979. GPCR_3_CS.
    IPR000162. GPCR_3_mtglu_rcpt.
    IPR000112. GPCR_3_mtglu_rcpt_6.
    IPR028082. Peripla_BP_I.
    [Graphical view ]
    Pfami PF00003. 7tm_3. 1 hit.
    PF01094. ANF_receptor. 1 hit.
    PF07562. NCD3G. 1 hit.
    [Graphical view ]
    PRINTSi PR00248. GPCRMGR.
    PR01056. MTABOTROPC6R.
    PR00593. MTABOTROPICR.
    SUPFAMi SSF53822. SSF53822. 1 hit.
    PROSITEi PS00979. G_PROTEIN_RECEP_F3_1. 1 hit.
    PS00980. G_PROTEIN_RECEP_F3_2. 1 hit.
    PS00981. G_PROTEIN_RECEP_F3_3. 1 hit.
    PS50259. G_PROTEIN_RECEP_F3_4. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6."
      Hashimoto T., Inazawa J., Okamoto N., Tagawa Y., Bessho Y., Honda Y., Nakanishi S.
      Eur. J. Neurosci. 9:1226-1235(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-59.
    2. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes."
      Devi S., Markandeya Y., Maddodi N., Dhingra A., Vardi N., Balijepalli R.C., Setaluri V.
      Pigment Cell Melanoma Res. 26:348-356(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.
    4. "Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6."
      Dryja T.P., McGee T.L., Berson E.L., Fishman G.A., Sandberg M.A., Alexander K.R., Derlacki D.J., Rajagopalan A.S.
      Proc. Natl. Acad. Sci. U.S.A. 102:4884-4889(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CSNB1B SER-150 AND LYS-781.
    5. Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-191.
    6. "Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking."
      Zeitz C., Forster U., Neidhardt J., Feil S., Kalin S., Leifert D., Flor P.J., Berger W.
      Hum. Mutat. 28:771-780(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CSNB1B LEU-46; ARG-58; SER-150; THR-405; TYR-522 AND LYS-781, VARIANT PRO-59, CHARACTERIZATION OF VARIANT PRO-59, CHARACTERIZATION OF VARIANTS CSNB1B LEU-46; ARG-58; SER-150; THR-405; TYR-522 AND LYS-781, SUBUNIT, SUBCELLULAR LOCATION.
    7. Cited for: VARIANTS CSNB1B LEU-46; ARG-58 AND TYR-522.

    Entry informationi

    Entry nameiGRM6_HUMAN
    AccessioniPrimary (citable) accession number: O15303
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: June 16, 2009
    Last modified: October 1, 2014
    This is version 122 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. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3