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Q9NQX3

- GEPH_HUMAN

UniProt

Q9NQX3 - GEPH_HUMAN

Protein

Gephyrin

Gene

GPHN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules By similarity. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.By similarity

    Catalytic activityi

    ATP + molybdopterin = diphosphate + adenylyl-molybdopterin.
    Adenylyl-molybdopterin + molybdate = molybdenum cofactor + AMP.

    Cofactori

    Magnesium.By similarity

    Enzyme regulationi

    Inhibited by copper and tungsten.By similarity

    Pathwayi

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW
    3. molybdopterin adenylyltransferase activity Source: UniProtKB-EC
    4. molybdopterin molybdotransferase activity Source: UniProtKB-EC
    5. transferase activity Source: Reactome

    GO - Biological processi

    1. establishment of synaptic specificity at neuromuscular junction Source: Ensembl
    2. molybdopterin cofactor biosynthetic process Source: Reactome
    3. Mo-molybdopterin cofactor biosynthetic process Source: UniProtKB-KW
    4. small molecule metabolic process Source: Reactome
    5. vitamin metabolic process Source: Reactome
    6. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Molecular functioni

    Transferase

    Keywords - Biological processi

    Molybdenum cofactor biosynthesis

    Keywords - Ligandi

    ATP-binding, Magnesium, Metal-binding, Molybdenum, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000171723-MONOMER.
    ReactomeiREACT_25073. Molybdenum cofactor biosynthesis.
    UniPathwayiUPA00344.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gephyrin
    Including the following 2 domains:
    Molybdopterin adenylyltransferase (EC:2.7.7.75)
    Short name:
    MPT adenylyltransferase
    Alternative name(s):
    Domain G
    Molybdopterin molybdenumtransferase (EC:2.10.1.1)
    Short name:
    MPT Mo-transferase
    Alternative name(s):
    Domain E
    Gene namesi
    Name:GPHN
    Synonyms:GPH, KIAA1385
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:15465. GPHN.

    Subcellular locationi

    Cell junctionsynapse By similarity. Cell junctionsynapsepostsynaptic cell membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity. Cytoplasmcytoskeleton By similarity
    Note: Cytoplasmic face of glycinergic postsynaptic membranes.By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cytoplasm Source: UniProtKB-KW
    3. cytoskeleton Source: UniProtKB-SubCell
    4. plasma membrane Source: Reactome
    5. postsynaptic membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501]: A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti580 – 5801D → A in MOCODC. 1 Publication
    VAR_070275

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi615501. phenotype.
    Orphaneti3197. Hereditary hyperekplexia.
    308400. Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C.
    PharmGKBiPA28840.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 736736GephyrinPRO_0000170964Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei188 – 1881Phosphoserine2 Publications
    Modified residuei194 – 1941Phosphoserine2 Publications
    Modified residuei266 – 2661Phosphothreonine1 Publication
    Modified residuei305 – 3051PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9NQX3.
    PaxDbiQ9NQX3.
    PRIDEiQ9NQX3.

    PTM databases

    PhosphoSiteiQ9NQX3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NQX3.
    BgeeiQ9NQX3.
    CleanExiHS_GPHN.
    GenevestigatoriQ9NQX3.

    Organism-specific databases

    HPAiCAB004419.
    HPA003116.
    HPA024694.

    Interactioni

    Subunit structurei

    Homotrimer. Interacts with GABARAP By similarity. Interacts with SRGAP2 (via SH3 domain) By similarity.By similarity

    Protein-protein interaction databases

    BioGridi115537. 20 interactions.
    IntActiQ9NQX3. 8 interactions.
    MINTiMINT-139581.
    STRINGi9606.ENSP00000303019.

    Structurei

    Secondary structure

    1
    736
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi16 – 227
    Helixi24 – 274
    Helixi34 – 4411
    Turni46 – 494
    Beta strandi52 – 598
    Helixi63 – 7513
    Beta strandi80 – 867
    Beta strandi89 – 913
    Helixi96 – 1038
    Beta strandi105 – 1073
    Helixi109 – 12214
    Helixi124 – 1285
    Beta strandi133 – 1364
    Beta strandi139 – 1446
    Helixi148 – 15811
    Helixi159 – 1613
    Helixi162 – 1698
    Helixi175 – 1784

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1JLJX-ray1.60A/B/C1-181[»]
    ProteinModelPortaliQ9NQX3.
    SMRiQ9NQX3. Positions 13-181, 318-736.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9NQX3.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni14 – 166153MPT Mo-transferaseAdd
    BLAST
    Regioni140 – 316177Interaction with GABARAPBy similarityAdd
    BLAST
    Regioni326 – 736411MPT adenylyltransferaseAdd
    BLAST

    Sequence similaritiesi

    In the N-terminal section; belongs to the MoaB/Mog family.Curated
    In the C-terminal section; belongs to the MoeA family.Curated

    Phylogenomic databases

    eggNOGiCOG0303.
    HOGENOMiHOG000280651.
    HOVERGENiHBG005828.
    KOiK15376.
    OrthoDBiEOG70087N.
    PhylomeDBiQ9NQX3.
    TreeFamiTF300902.

    Family and domain databases

    Gene3Di2.40.340.10. 1 hit.
    3.40.980.10. 2 hits.
    InterProiIPR020817. Mo_cofactor_synthesis.
    IPR008284. MoCF_biosynth_CS.
    IPR005111. MoeA_C_domain_IV.
    IPR005110. MoeA_linker/N.
    IPR001453. Mopterin-bd_dom.
    [Graphical view]
    PfamiPF00994. MoCF_biosynth. 2 hits.
    PF03454. MoeA_C. 1 hit.
    PF03453. MoeA_N. 1 hit.
    [Graphical view]
    SMARTiSM00852. MoCF_biosynth. 2 hits.
    [Graphical view]
    SUPFAMiSSF53218. SSF53218. 2 hits.
    SSF63867. SSF63867. 1 hit.
    SSF63882. SSF63882. 1 hit.
    TIGRFAMsiTIGR00177. molyb_syn. 2 hits.
    PROSITEiPS01078. MOCF_BIOSYNTHESIS_1. 1 hit.
    PS01079. MOCF_BIOSYNTHESIS_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NQX3-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MATEGMILTN HDHQIRVGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG    50
    GTISAYKIVP DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEAT 100
    KEVIEREAPG MALAMLMGSL NVTPLGMLSR PVCGIRGKTL IINLPGSKKG 150
    SQECFQFILP ALPHAIDLLR DAIVKVKEVH DELEDLPSPP PPLSPPPTTS 200
    PHKQTEDKGV QCEEEEEEKK DSGVASTEDS SSSHITAAAI AAKIPDSIIS 250
    RGVQVLPRDT ASLSTTPSES PRAQATSRLS TASCPTPKVQ SRCSSKENIL 300
    RASHSAVDIT KVARRHRMSP FPLTSMDKAF ITVLEMTPVL GTEIINYRDG 350
    MGRVLAQDVY AKDNLPPFPA SVKDGYAVRA ADGPGDRFII GESQAGEQPT 400
    QTVMPGQVMR VTTGAPIPCG ADAVVQVEDT ELIRESDDGT EELEVRILVQ 450
    ARPGQDIRPI GHDIKRGECV LAKGTHMGPS EIGLLATVGV TEVEVNKFPV 500
    VAVMSTGNEL LNPEDDLLPG KIRDSNRSTL LATIQEHGYP TINLGIVGDN 550
    PDDLLNALNE GISRADVIIT SGGVSMGEKD YLKQVLDIDL HAQIHFGRVF 600
    MKPGLPTTFA TLDIDGVRKI IFALPGNPVS AVVTCNLFVV PALRKMQGIL 650
    DPRPTIIKAR LSCDVKLDPR PEYHRCILTW HHQEPLPWAQ STGNQMSSRL 700
    MSMRSANGLL MLPPKTEQYV ELHKGEVVDV MVIGRL 736
    Length:736
    Mass (Da):79,748
    Last modified:October 1, 2000 - v1
    Checksum:iE2BDA3AD3AB962C0
    GO
    Isoform 2 (identifier: Q9NQX3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         243-243: K → KKHPFYTSPAVVMAHGEQPIPGLINYSHHSTDER

    Show »
    Length:769
    Mass (Da):83,448
    Checksum:i552D5B7BD9AD7452
    GO

    Sequence cautioni

    The sequence BAA92623.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101N → Y Found in a patient with hyperekplexia; unknown pathological significance; does not affect the structural lattices formed by gephyrin. 1 Publication
    Corresponds to variant rs121908539 [ dbSNP | Ensembl ].
    VAR_044162
    Natural varianti580 – 5801D → A in MOCODC. 1 Publication
    VAR_070275

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei243 – 2431K → KKHPFYTSPAVVMAHGEQPI PGLINYSHHSTDER in isoform 2. 2 PublicationsVSP_021769

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF272663 mRNA. Translation: AAF81785.1.
    AJ272343 mRNA. Translation: CAC10537.1.
    AB037806 mRNA. Translation: BAA92623.1. Different initiation.
    BC030016 mRNA. Translation: AAH30016.1.
    CCDSiCCDS32103.1. [Q9NQX3-1]
    CCDS9777.1. [Q9NQX3-2]
    RefSeqiNP_001019389.1. NM_001024218.1. [Q9NQX3-1]
    NP_065857.1. NM_020806.4. [Q9NQX3-2]
    UniGeneiHs.208765.

    Genome annotation databases

    EnsembliENST00000315266; ENSP00000312771; ENSG00000171723. [Q9NQX3-1]
    ENST00000478722; ENSP00000417901; ENSG00000171723. [Q9NQX3-2]
    GeneIDi10243.
    KEGGihsa:10243.
    UCSCiuc001xix.3. human. [Q9NQX3-2]
    uc001xiy.3. human. [Q9NQX3-1]

    Polymorphism databases

    DMDMi13431554.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF272663 mRNA. Translation: AAF81785.1 .
    AJ272343 mRNA. Translation: CAC10537.1 .
    AB037806 mRNA. Translation: BAA92623.1 . Different initiation.
    BC030016 mRNA. Translation: AAH30016.1 .
    CCDSi CCDS32103.1. [Q9NQX3-1 ]
    CCDS9777.1. [Q9NQX3-2 ]
    RefSeqi NP_001019389.1. NM_001024218.1. [Q9NQX3-1 ]
    NP_065857.1. NM_020806.4. [Q9NQX3-2 ]
    UniGenei Hs.208765.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1JLJ X-ray 1.60 A/B/C 1-181 [» ]
    ProteinModelPortali Q9NQX3.
    SMRi Q9NQX3. Positions 13-181, 318-736.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115537. 20 interactions.
    IntActi Q9NQX3. 8 interactions.
    MINTi MINT-139581.
    STRINGi 9606.ENSP00000303019.

    PTM databases

    PhosphoSitei Q9NQX3.

    Polymorphism databases

    DMDMi 13431554.

    Proteomic databases

    MaxQBi Q9NQX3.
    PaxDbi Q9NQX3.
    PRIDEi Q9NQX3.

    Protocols and materials databases

    DNASUi 10243.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000315266 ; ENSP00000312771 ; ENSG00000171723 . [Q9NQX3-1 ]
    ENST00000478722 ; ENSP00000417901 ; ENSG00000171723 . [Q9NQX3-2 ]
    GeneIDi 10243.
    KEGGi hsa:10243.
    UCSCi uc001xix.3. human. [Q9NQX3-2 ]
    uc001xiy.3. human. [Q9NQX3-1 ]

    Organism-specific databases

    CTDi 10243.
    GeneCardsi GC14P066974.
    GeneReviewsi GPHN.
    HGNCi HGNC:15465. GPHN.
    HPAi CAB004419.
    HPA003116.
    HPA024694.
    MIMi 603930. gene.
    615501. phenotype.
    neXtProti NX_Q9NQX3.
    Orphaneti 3197. Hereditary hyperekplexia.
    308400. Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C.
    PharmGKBi PA28840.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0303.
    HOGENOMi HOG000280651.
    HOVERGENi HBG005828.
    KOi K15376.
    OrthoDBi EOG70087N.
    PhylomeDBi Q9NQX3.
    TreeFami TF300902.

    Enzyme and pathway databases

    UniPathwayi UPA00344 .
    BioCyci MetaCyc:ENSG00000171723-MONOMER.
    Reactomei REACT_25073. Molybdenum cofactor biosynthesis.

    Miscellaneous databases

    ChiTaRSi GPHN. human.
    EvolutionaryTracei Q9NQX3.
    GeneWikii GPHN.
    GenomeRNAii 10243.
    NextBioi 38806.
    PROi Q9NQX3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQX3.
    Bgeei Q9NQX3.
    CleanExi HS_GPHN.
    Genevestigatori Q9NQX3.

    Family and domain databases

    Gene3Di 2.40.340.10. 1 hit.
    3.40.980.10. 2 hits.
    InterProi IPR020817. Mo_cofactor_synthesis.
    IPR008284. MoCF_biosynth_CS.
    IPR005111. MoeA_C_domain_IV.
    IPR005110. MoeA_linker/N.
    IPR001453. Mopterin-bd_dom.
    [Graphical view ]
    Pfami PF00994. MoCF_biosynth. 2 hits.
    PF03454. MoeA_C. 1 hit.
    PF03453. MoeA_N. 1 hit.
    [Graphical view ]
    SMARTi SM00852. MoCF_biosynth. 2 hits.
    [Graphical view ]
    SUPFAMi SSF53218. SSF53218. 2 hits.
    SSF63867. SSF63867. 1 hit.
    SSF63882. SSF63882. 1 hit.
    TIGRFAMsi TIGR00177. molyb_syn. 2 hits.
    PROSITEi PS01078. MOCF_BIOSYNTHESIS_1. 1 hit.
    PS01079. MOCF_BIOSYNTHESIS_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency."
      Reiss J., Gross-Hardt S., Christensen E., Schmidt P., Mendel R.R., Schwarz G.
      Am. J. Hum. Genet. 68:208-213(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN MOCODC.
    2. "The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells."
      David-Watine B.
      Gene 271:239-245(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Kidney.
    3. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. "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] (ISOFORM 2).
      Tissue: Testis.
    5. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
      Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
      Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-266, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-188 AND SER-194, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-188 AND SER-194, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications."
      Schwarz G., Schrader N., Mendel R.R., Hecht H.-J., Schindelin H.
      J. Mol. Biol. 312:405-418(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 1-181, SUBUNIT.
    12. "Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia."
      Rees M.I., Harvey K., Ward H., White J.H., Evans L., Duguid I.C., Hsu C.-C., Coleman S.L., Miller J., Baer K., Waldvogel H.J., Gibbon F., Smart T.G., Owen M.J., Harvey R.J., Snell R.G.
      J. Biol. Chem. 278:24688-24696(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TYR-10, CHARACTERIZATION OF VARIANT TYR-10.
    13. Cited for: VARIANT MOCODC ALA-580.

    Entry informationi

    Entry nameiGEPH_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQX3
    Secondary accession number(s): Q9H4E9, Q9P2G2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 135 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

    3D-structure, Complete proteome, Multifunctional enzyme, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3