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Q96PV0

- SYGP1_HUMAN

UniProt

Q96PV0 - SYGP1_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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 non-syndromic 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

MaxQBiQ96PV0.
PaxDbiQ96PV0.
PRIDEiQ96PV0.

PTM databases

PhosphoSiteiQ96PV0.

Expressioni

Gene expression databases

BgeeiQ96PV0.
CleanExiHS_SYNGAP1.
ExpressionAtlasiQ96PV0. baseline and differential.
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 260-368, 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.
GeneTreeiENSGT00760000119092.
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

        10         20         30         40         50
MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI
60 70 80 90 100
ISGNQLLMLD EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY
110 120 130 140 150
HLGRSRRKSV PGGKQYSMEG APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL
160 170 180 190 200
DRTSSFRQIL PRFRSADHDR ARLMQSFKES HSHESLLSPS SAAEALELNL
210 220 230 240 250
DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD KWIENLQRAV
260 270 280 290 300
KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS
310 320 330 340 350
ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV
360 370 380 390 400
ATLAGRHFTE QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV
410 420 430 440 450
RLKARYQTMS ILPMELYKEF AEYVTNHYRM LCAVLEPALN VKGKEEVASA
460 470 480 490 500
LVHILQSTGK AKDFLSDMAM SEVDRFMERE HLIFRENTLA TKAIEEYMRL
510 520 530 540 550
IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ ANLRMCCELA
560 570 580 590 600
LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP
610 620 630 640 650
AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN
660 670 680 690 700
EFLELEWGSM QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL
710 720 730 740 750
PQLSKEALLK LGPLPRLLND ISTALRNPNI QRQPSRQSER PRPQPVVLRG
760 770 780 790 800
PSAEMQGYMM RDLNSSIDLQ SFMARGLNSS MDMARLPSPT KEKPPPPPPG
810 820 830 840 850
GGKDLFYVSR PPLARSSPAY CTSSSDITEP EQKMLSVNKS VSMLDLQGDG
860 870 880 890 900
PGGRLNSSSV SNLAAVGDLL HSSQASLTAA LGLRPAPAGR LSQGSGSSIT
910 920 930 940 950
AAGMRLSQMG VTTDGVPAQQ LRIPLSFQNP LFHMAADGPG PPGGHGGGGG
960 970 980 990 1000
HGPPSSHHHH HHHHHHRGGE PPGDTFAPFH GYSKSEDLSS GVPKPPAASI
1010 1020 1030 1040 1050
LHSHSYSDEF GPSGTDFTRR QLSLQDNLQH MLSPPQITIG PQRPAPSGPG
1060 1070 1080 1090 1100
GGSGGGSGGG GGGQPPPLQR GKSQQLTVSA AQKPRPSSGN LLQSPEPSYG
1110 1120 1130 1140 1150
PARPRQQSLS KEGSIGGSGG SGGGGGGGLK PSITKQHSQT PSTLNPTMPA
1160 1170 1180 1190 1200
SERTVAWVSN MPHLSADIES AHIEREEYKL KEYSKSMDES RLDRVKEYEE
1210 1220 1230 1240 1250
EIHSLKERLH MSNRKLEEYE RRLLSQEEQT SKILMQYQAR LEQSEKRLRQ
1260 1270 1280 1290 1300
QQAEKDSQIK SIIGRLMLVE EELRRDHPAM AEPLPEPKKR LLDAQERQLP
1310 1320 1330 1340
PLGPTNPRVT LAPPWNGLAP PAPPPPPRLQ ITENGEFRNT ADH
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

EnsembliENST00000395071; 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 260-368, 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

MaxQBi Q96PV0.
PaxDbi Q96PV0.
PRIDEi Q96PV0.

Protocols and materials databases

DNASUi 8831.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli 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 non-syndromic intellectual disability.
PharmGKBi PA36279.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG245428.
GeneTreei ENSGT00760000119092.
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

Bgeei Q96PV0.
CleanExi HS_SYNGAP1.
ExpressionAtlasi Q96PV0. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 116 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