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Q96PV0

- SYGP1_HUMAN

UniProt

Q96PV0 - SYGP1_HUMAN

Protein

Ras/Rap GTPase-activating protein SynGAP

Gene

SYNGAP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 4 (26 Jun 2007)
      Previous versions | rss
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    Functioni

    Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits By similarity.By similarity

    GO - Molecular functioni

    1. Rab GTPase activator activity Source: Ensembl
    2. Ras GTPase activator activity Source: RefGenome

    GO - Biological processi

    1. dendrite development Source: Ensembl
    2. negative regulation of axonogenesis Source: Ensembl
    3. negative regulation of neuron apoptotic process Source: Ensembl
    4. negative regulation of Ras protein signal transduction Source: UniProtKB
    5. pattern specification process Source: Ensembl
    6. positive regulation of Ras GTPase activity Source: RefGenome
    7. Ras protein signal transduction Source: Ensembl
    8. receptor clustering Source: Ensembl
    9. regulation of long-term neuronal synaptic plasticity Source: Ensembl
    10. regulation of MAPK cascade Source: Ensembl
    11. regulation of synapse structure and activity Source: Ensembl
    12. regulation of synaptic plasticity Source: UniProtKB
    13. visual learning Source: Ensembl

    Keywords - Molecular functioni

    GTPase activation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ras/Rap GTPase-activating protein SynGAP
    Alternative name(s):
    Neuronal RasGAP
    Synaptic Ras GTPase-activating protein 1
    Short name:
    Synaptic Ras-GAP 1
    Gene namesi
    Name:SYNGAP1
    Synonyms:KIAA1938
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:11497. SYNGAP1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: RefGenome
    2. dendritic shaft Source: Ensembl
    3. intrinsic component of the cytoplasmic side of the plasma membrane Source: RefGenome

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, autosomal dominant 5 (MRD5) [MIM:612621]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe mental retardation, and severe language impairment. Epilepsy and autism can be present in some patients.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti362 – 3621W → R in MRD5; the disease phenotype consists of intellectual disability, autism and epilepsy; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 Publication
    VAR_069232
    Natural varianti562 – 5621P → L in MRD5; the disease phenotype consists of intellectual disability and autism; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 Publication
    VAR_069233

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi612621. phenotype.
    Orphaneti178469. Autosomal dominant nonsyndromic intellectual disability.
    PharmGKBiPA36279.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13431343Ras/Rap GTPase-activating protein SynGAPPRO_0000056654Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei34 – 341PhosphotyrosineBy similarity
    Modified residuei39 – 391PhosphotyrosineBy similarity
    Modified residuei379 – 3791PhosphoserineBy similarity
    Modified residuei385 – 3851Phosphoserine; by PLK2By similarity
    Modified residuei449 – 4491Phosphoserine; by PLK2By similarity
    Modified residuei466 – 4661Phosphoserine; by PLK2By similarity
    Modified residuei836 – 8361Phosphoserine; by PLK2By similarity
    Modified residuei840 – 8401Phosphoserine; by PLK2By similarity
    Modified residuei842 – 8421Phosphoserine; by PLK2By similarity
    Modified residuei895 – 8951Phosphoserine; by PLK2By similarity
    Modified residuei1204 – 12041PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption. Phosphorylation by PLK2 promotes its activity By similarity.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ96PV0.
    PRIDEiQ96PV0.

    PTM databases

    PhosphoSiteiQ96PV0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96PV0.
    BgeeiQ96PV0.
    CleanExiHS_SYNGAP1.
    GenevestigatoriQ96PV0.

    Organism-specific databases

    HPAiHPA038373.
    HPA038374.

    Interactioni

    Subunit structurei

    Interacts KLHL17, CAMK2A and CAMK2B By similarity. Interacts with MPDZ.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi114358. 5 interactions.
    IntActiQ96PV0. 6 interactions.
    STRINGi9606.ENSP00000403636.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96PV0.
    SMRiQ96PV0. Positions 401-734.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini150 – 251102PHPROSITE-ProRule annotationAdd
    BLAST
    Domaini249 – 34799C2Add
    BLAST
    Domaini443 – 635193Ras-GAPPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi785 – 81531SH3-bindingSequence AnalysisAdd
    BLAST

    Domaini

    The C2 domain is required for RapGAP activity.By similarity

    Sequence similaritiesi

    Contains 1 C2 domain.Curated
    Contains 1 PH domain.PROSITE-ProRule annotation
    Contains 1 Ras-GAP domain.PROSITE-ProRule annotation

    Keywords - Domaini

    SH3-binding

    Phylogenomic databases

    eggNOGiNOG245428.
    HOVERGENiHBG006492.
    InParanoidiQ96PV0.
    KOiK17631.
    OMAiNPHIQRQ.
    PhylomeDBiQ96PV0.
    TreeFamiTF105303.

    Family and domain databases

    Gene3Di1.10.506.10. 1 hit.
    2.20.170.10. 1 hit.
    2.30.29.30. 2 hits.
    2.60.40.150. 1 hit.
    InterProiIPR000008. C2_dom.
    IPR021887. DUF3498.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR001936. RasGAP.
    IPR023152. RasGAP_CS.
    IPR008936. Rho_GTPase_activation_prot.
    IPR023315. SynGAP_C2_N.
    [Graphical view]
    PfamiPF00168. C2. 1 hit.
    PF12004. DUF3498. 1 hit.
    PF00616. RasGAP. 1 hit.
    [Graphical view]
    SMARTiSM00239. C2. 1 hit.
    SM00233. PH. 1 hit.
    SM00323. RasGAP. 1 hit.
    [Graphical view]
    SUPFAMiSSF48350. SSF48350. 1 hit.
    SSF49562. SSF49562. 1 hit.
    PROSITEiPS50003. PH_DOMAIN. 1 hit.
    PS00509. RAS_GTPASE_ACTIV_1. 1 hit.
    PS50018. RAS_GTPASE_ACTIV_2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q96PV0-1) [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

    MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI     50
    ISGNQLLMLD EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY 100
    HLGRSRRKSV PGGKQYSMEG APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL 150
    DRTSSFRQIL PRFRSADHDR ARLMQSFKES HSHESLLSPS SAAEALELNL 200
    DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD KWIENLQRAV 250
    KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS 300
    ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV 350
    ATLAGRHFTE QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV 400
    RLKARYQTMS ILPMELYKEF AEYVTNHYRM LCAVLEPALN VKGKEEVASA 450
    LVHILQSTGK AKDFLSDMAM SEVDRFMERE HLIFRENTLA TKAIEEYMRL 500
    IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ ANLRMCCELA 550
    LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP 600
    AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN 650
    EFLELEWGSM QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL 700
    PQLSKEALLK LGPLPRLLND ISTALRNPNI QRQPSRQSER PRPQPVVLRG 750
    PSAEMQGYMM RDLNSSIDLQ SFMARGLNSS MDMARLPSPT KEKPPPPPPG 800
    GGKDLFYVSR PPLARSSPAY CTSSSDITEP EQKMLSVNKS VSMLDLQGDG 850
    PGGRLNSSSV SNLAAVGDLL HSSQASLTAA LGLRPAPAGR LSQGSGSSIT 900
    AAGMRLSQMG VTTDGVPAQQ LRIPLSFQNP LFHMAADGPG PPGGHGGGGG 950
    HGPPSSHHHH HHHHHHRGGE PPGDTFAPFH GYSKSEDLSS GVPKPPAASI 1000
    LHSHSYSDEF GPSGTDFTRR QLSLQDNLQH MLSPPQITIG PQRPAPSGPG 1050
    GGSGGGSGGG GGGQPPPLQR GKSQQLTVSA AQKPRPSSGN LLQSPEPSYG 1100
    PARPRQQSLS KEGSIGGSGG SGGGGGGGLK PSITKQHSQT PSTLNPTMPA 1150
    SERTVAWVSN MPHLSADIES AHIEREEYKL KEYSKSMDES RLDRVKEYEE 1200
    EIHSLKERLH MSNRKLEEYE RRLLSQEEQT SKILMQYQAR LEQSEKRLRQ 1250
    QQAEKDSQIK SIIGRLMLVE EELRRDHPAM AEPLPEPKKR LLDAQERQLP 1300
    PLGPTNPRVT LAPPWNGLAP PAPPPPPRLQ ITENGEFRNT ADH 1343
    Length:1,343
    Mass (Da):148,284
    Last modified:June 26, 2007 - v4
    Checksum:iD9ABE21054677AA0
    GO
    Isoform 2 (identifier: Q96PV0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1265-1343: RLMLVEEELR...NGEFRNTADH → SPSLQADAGGGGAAPGPPRHG

    Show »
    Length:1,285
    Mass (Da):141,248
    Checksum:iA9353354EF091FD6
    GO
    Isoform 3 (identifier: Q96PV0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-98: MSRSRASIHR...PVEGRPHGEH → MGLRPPTPSP...RRCSSCCFPG

    Show »
    Length:1,284
    Mass (Da):140,929
    Checksum:i73BCEF16133B6D77
    GO
    Isoform 4 (identifier: Q96PV0-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1296-1343: ERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH → LLIR

    Show »
    Length:1,299
    Mass (Da):143,569
    Checksum:iAC4DC1FF002B7075
    GO

    Sequence cautioni

    The sequence BAB67831.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti201 – 2011D → E.1 Publication
    VAR_065078
    Natural varianti362 – 3621W → R in MRD5; the disease phenotype consists of intellectual disability, autism and epilepsy; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 Publication
    VAR_069232
    Natural varianti562 – 5621P → L in MRD5; the disease phenotype consists of intellectual disability and autism; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 Publication
    VAR_069233
    Natural varianti749 – 7491R → Q.1 Publication
    VAR_065079
    Natural varianti790 – 7901T → N.1 Publication
    VAR_065080
    Natural varianti991 – 9911G → R.1 Publication
    VAR_065081
    Natural varianti1115 – 11151I → T.2 Publications
    Corresponds to variant rs191549504 [ dbSNP | Ensembl ].
    VAR_065082
    Natural varianti1283 – 12831P → L.1 Publication
    VAR_065083
    Natural varianti1310 – 13101T → M.1 Publication
    VAR_065084

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9898MSRSR…PHGEH → MGLRPPTPSPSGGSCSGSLP PPSRCQPLRRRCSSCCFPG in isoform 3. CuratedVSP_026376Add
    BLAST
    Alternative sequencei1265 – 134379RLMLV…NTADH → SPSLQADAGGGGAAPGPPRH G in isoform 2. 1 PublicationVSP_007973Add
    BLAST
    Alternative sequencei1296 – 134348ERQLP…NTADH → LLIR in isoform 4. CuratedVSP_026377Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB067525 mRNA. Translation: BAB67831.2. Different initiation.
    AL021366 Genomic DNA. Translation: CAA16161.1.
    AL662799 Genomic DNA. Translation: CAI18276.2.
    AL662799 Genomic DNA. Translation: CAM25572.1.
    BX088650 Genomic DNA. Translation: CAM26304.1.
    BX088650 Genomic DNA. Translation: CAM26305.1.
    BX088650 Genomic DNA. Translation: CAM26306.1.
    AL713634 mRNA. Translation: CAD28452.1.
    CCDSiCCDS34434.2. [Q96PV0-1]
    RefSeqiNP_006763.2. NM_006772.2. [Q96PV0-1]
    UniGeneiHs.586264.

    Genome annotation databases

    EnsembliENST00000293748; ENSP00000293748; ENSG00000197283. [Q96PV0-4]
    ENST00000395071; ENSP00000378509; ENSG00000227460. [Q96PV0-4]
    ENST00000414753; ENSP00000407995; ENSG00000227460. [Q96PV0-3]
    ENST00000418600; ENSP00000403636; ENSG00000197283. [Q96PV0-1]
    ENST00000428982; ENSP00000412475; ENSG00000197283. [Q96PV0-3]
    ENST00000455687; ENSP00000414259; ENSG00000227460. [Q96PV0-1]
    GeneIDi8831.
    KEGGihsa:8831.
    UCSCiuc010juz.3. human. [Q96PV0-2]
    uc011dri.2. human. [Q96PV0-1]

    Polymorphism databases

    DMDMi150421676.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Synaptic Ras GTPase activating protein 1 homolog (rat) (SYNGAP1)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB067525 mRNA. Translation: BAB67831.2 . Different initiation.
    AL021366 Genomic DNA. Translation: CAA16161.1 .
    AL662799 Genomic DNA. Translation: CAI18276.2 .
    AL662799 Genomic DNA. Translation: CAM25572.1 .
    BX088650 Genomic DNA. Translation: CAM26304.1 .
    BX088650 Genomic DNA. Translation: CAM26305.1 .
    BX088650 Genomic DNA. Translation: CAM26306.1 .
    AL713634 mRNA. Translation: CAD28452.1 .
    CCDSi CCDS34434.2. [Q96PV0-1 ]
    RefSeqi NP_006763.2. NM_006772.2. [Q96PV0-1 ]
    UniGenei Hs.586264.

    3D structure databases

    ProteinModelPortali Q96PV0.
    SMRi Q96PV0. Positions 401-734.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114358. 5 interactions.
    IntActi Q96PV0. 6 interactions.
    STRINGi 9606.ENSP00000403636.

    PTM databases

    PhosphoSitei Q96PV0.

    Polymorphism databases

    DMDMi 150421676.

    Proteomic databases

    PaxDbi Q96PV0.
    PRIDEi Q96PV0.

    Protocols and materials databases

    DNASUi 8831.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000293748 ; ENSP00000293748 ; ENSG00000197283 . [Q96PV0-4 ]
    ENST00000395071 ; ENSP00000378509 ; ENSG00000227460 . [Q96PV0-4 ]
    ENST00000414753 ; ENSP00000407995 ; ENSG00000227460 . [Q96PV0-3 ]
    ENST00000418600 ; ENSP00000403636 ; ENSG00000197283 . [Q96PV0-1 ]
    ENST00000428982 ; ENSP00000412475 ; ENSG00000197283 . [Q96PV0-3 ]
    ENST00000455687 ; ENSP00000414259 ; ENSG00000227460 . [Q96PV0-1 ]
    GeneIDi 8831.
    KEGGi hsa:8831.
    UCSCi uc010juz.3. human. [Q96PV0-2 ]
    uc011dri.2. human. [Q96PV0-1 ]

    Organism-specific databases

    CTDi 8831.
    GeneCardsi GC06P033387.
    GC06Po33527.
    HGNCi HGNC:11497. SYNGAP1.
    HPAi HPA038373.
    HPA038374.
    MIMi 603384. gene.
    612621. phenotype.
    neXtProti NX_Q96PV0.
    Orphaneti 178469. Autosomal dominant nonsyndromic intellectual disability.
    PharmGKBi PA36279.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG245428.
    HOVERGENi HBG006492.
    InParanoidi Q96PV0.
    KOi K17631.
    OMAi NPHIQRQ.
    PhylomeDBi Q96PV0.
    TreeFami TF105303.

    Miscellaneous databases

    GeneWikii SYNGAP1.
    GenomeRNAii 8831.
    NextBioi 33144.
    PROi Q96PV0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96PV0.
    Bgeei Q96PV0.
    CleanExi HS_SYNGAP1.
    Genevestigatori Q96PV0.

    Family and domain databases

    Gene3Di 1.10.506.10. 1 hit.
    2.20.170.10. 1 hit.
    2.30.29.30. 2 hits.
    2.60.40.150. 1 hit.
    InterProi IPR000008. C2_dom.
    IPR021887. DUF3498.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR001936. RasGAP.
    IPR023152. RasGAP_CS.
    IPR008936. Rho_GTPase_activation_prot.
    IPR023315. SynGAP_C2_N.
    [Graphical view ]
    Pfami PF00168. C2. 1 hit.
    PF12004. DUF3498. 1 hit.
    PF00616. RasGAP. 1 hit.
    [Graphical view ]
    SMARTi SM00239. C2. 1 hit.
    SM00233. PH. 1 hit.
    SM00323. RasGAP. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48350. SSF48350. 1 hit.
    SSF49562. SSF49562. 1 hit.
    PROSITEi PS50003. PH_DOMAIN. 1 hit.
    PS00509. RAS_GTPASE_ACTIV_1. 1 hit.
    PS50018. RAS_GTPASE_ACTIV_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."
      Nagase T., Kikuno R., Ohara O.
      DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 384-1343 (ISOFORM 2).
      Tissue: Amygdala.
    4. "SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation."
      Krapivinsky G., Medina I., Krapivinsky L., Gapon S., Clapham D.E.
      Neuron 43:563-574(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MPDZ.
    5. Cited for: INVOLVEMENT IN MRD5, VARIANTS GLU-201; GLN-749; ASN-790; THR-1115; LEU-1283 AND MET-1310.
    6. Cited for: INVOLVEMENT IN MRD5.
    7. Cited for: INVOLVEMENT IN MRD5, VARIANTS ARG-991 AND THR-1115.
    8. Cited for: VARIANTS MRD5 ARG-362 AND LEU-562, CHARACTERIZATION OF VARIANTS MRD5 ARG-362 AND LEU-562.

    Entry informationi

    Entry nameiSYGP1_HUMAN
    AccessioniPrimary (citable) accession number: Q96PV0
    Secondary accession number(s): A2AB17
    , A2BEL6, A2BEL7, A8MQC4, Q8TCS2, Q9UGE2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 15, 2003
    Last sequence update: June 26, 2007
    Last modified: October 1, 2014
    This is version 115 of the entry and version 4 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

    Caution

    It is uncertain whether Met-1 or Met-16 is the initiator methionine.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3