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P08247

- SYPH_HUMAN

UniProt

P08247 - SYPH_HUMAN

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Protein

Synaptophysin

Gene

SYP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity).By similarity

GO - Molecular functioni

  1. cholesterol binding Source: UniProtKB
  2. protein self-association Source: ParkinsonsUK-UCL
  3. transporter activity Source: InterPro

GO - Biological processi

  1. cellular response to organic substance Source: Ensembl
  2. endocytosis Source: UniProtKB
  3. regulation of long-term neuronal synaptic plasticity Source: UniProtKB
  4. regulation of neuronal synaptic plasticity Source: RefGenome
  5. regulation of opioid receptor signaling pathway Source: UniProtKB
  6. regulation of short-term neuronal synaptic plasticity Source: UniProtKB
  7. synaptic vesicle maturation Source: UniProtKB
  8. synaptic vesicle membrane organization Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Calcium

Protein family/group databases

TCDBi9.B.130.1.4. the tetraspan vesicle membrane protein (tvp) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Synaptophysin
Alternative name(s):
Major synaptic vesicle protein p38
Gene namesi
Name:SYP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:11506. SYP.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei26 – 4924HelicalSequence AnalysisAdd
BLAST
Topological domaini50 – 10657VesicularSequence AnalysisAdd
BLAST
Transmembranei107 – 13024HelicalSequence AnalysisAdd
BLAST
Topological domaini131 – 1377CytoplasmicSequence Analysis
Transmembranei138 – 16124HelicalSequence AnalysisAdd
BLAST
Topological domaini162 – 19938VesicularSequence AnalysisAdd
BLAST
Transmembranei200 – 22324HelicalSequence AnalysisAdd
BLAST
Topological domaini224 – 31390CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. excitatory synapse Source: Ensembl
  3. integral component of synaptic vesicle membrane Source: UniProtKB
  4. neuron projection Source: ParkinsonsUK-UCL
  5. neuron projection terminus Source: Ensembl
  6. presynaptic active zone Source: Ensembl
  7. presynaptic membrane Source: Ensembl
  8. protein complex Source: Ensembl
  9. synaptic vesicle Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasmic vesicle, Membrane, Synapse, Synaptosome

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked, SYP-related (MRXSYP) [MIM:300802]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti217 – 2171G → R in MRXSYP. 1 Publication
VAR_062986

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi300802. phenotype.
Orphaneti777. X-linked non-syndromic intellectual disability.
PharmGKBiPA36288.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 313313SynaptophysinPRO_0000179161Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi59 – 591N-linked (GlcNAc...)Sequence Analysis
Modified residuei81 – 811PhosphotyrosineBy similarity

Post-translational modificationi

Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiP08247.
PaxDbiP08247.
PRIDEiP08247.

PTM databases

PhosphoSiteiP08247.

Expressioni

Tissue specificityi

Characteristic of a type of small (30-80 nm) neurosecretory vesicles, including presynaptic vesicles, but also vesicles of various neuroendocrine cells of both neuronal and epithelial phenotype.

Gene expression databases

BgeeiP08247.
CleanExiHS_SYP.
ExpressionAtlasiP08247. baseline and differential.
GenevestigatoriP08247.

Organism-specific databases

HPAiCAB000076.
CAB055505.
HPA002858.

Interactioni

Subunit structurei

Homohexamer or homotetramer. Interacts with SRCIN1.1 Publication

Protein-protein interaction databases

BioGridi112721. 14 interactions.
IntActiP08247. 1 interaction.
STRINGi9606.ENSP00000263233.

Structurei

3D structure databases

ProteinModelPortaliP08247.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini21 – 227207MARVELPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni254 – 30552Repeats, Gly-richAdd
BLAST

Domaini

The calcium-binding activity is thought to be localized in the cytoplasmic tail of the protein.

Sequence similaritiesi

Belongs to the synaptophysin/synaptobrevin family.Curated
Contains 1 MARVEL domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG82723.
GeneTreeiENSGT00390000010039.
HOGENOMiHOG000252913.
HOVERGENiHBG006681.
InParanoidiP08247.
OMAiAYGDAGY.
PhylomeDBiP08247.
TreeFamiTF315804.

Family and domain databases

InterProiIPR008253. Marvel.
IPR001285. Synaptophysin/porin.
IPR028714. SYP.
[Graphical view]
PANTHERiPTHR10306. PTHR10306. 1 hit.
PTHR10306:SF10. PTHR10306:SF10. 1 hit.
PfamiPF01284. MARVEL. 1 hit.
[Graphical view]
PRINTSiPR00220. SYNAPTOPHYSN.
PROSITEiPS51225. MARVEL. 1 hit.
PS00604. SYNAPTOP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P08247-1) [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
MLLLADMDVV NQLVAGGQFR VVKEPLGFVK VLQWVFAIFA FATCGSYSGE
60 70 80 90 100
LQLSVDCANK TESDLSIEVE FEYPFRLHQV YFDAPTCRGG TTKVFLVGDY
110 120 130 140 150
SSSAEFFVTV AVFAFLYSMG ALATYIFLQN KYRENNKGPM LDFLATAVFA
160 170 180 190 200
FMWLVSSSAW AKGLSDVKMA TDPENIIKEM PVCRQTGNTC KELRDPVTSG
210 220 230 240 250
LNTSVVFGFL NLVLWVGNLW FVFKETGWAA PFLRAPPGAP EKQPAPGDAY
260 270 280 290 300
GDAGYGQGPG GYGPQDSYGP QGGYQPDYGQ PAGSGGSGYG PQGDYGQQGY
310
GPQGAPTSFS NQM
Length:313
Mass (Da):33,845
Last modified:August 1, 1991 - v3
Checksum:i592289C43B12EFA7
GO
Isoform 2 (identifier: P08247-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.

Note: No experimental confirmation available

Show »
Length:195
Mass (Da):20,757
Checksum:i0AA753652E402114
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti196 – 1961P → L in AAH64550. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21L → Q.1 Publication
VAR_062983
Natural varianti158 – 1581S → L.1 Publication
VAR_062984
Natural varianti166 – 1661D → N.1 Publication
VAR_062985
Natural varianti217 – 2171G → R in MRXSYP. 1 Publication
VAR_062986
Natural varianti248 – 2481D → N.1 Publication
VAR_062987
Natural varianti277 – 2771D → E in an individual affected by mental retardation; unknown pathological role. 1 Publication
VAR_062988
Natural varianti293 – 2931G → S in an individual affected by mental retardation; unknown pathological role. 1 Publication
Corresponds to variant rs139475570 [ dbSNP | Ensembl ].
VAR_062989

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 118118Missing in isoform 2. 1 PublicationVSP_056897Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X06389 mRNA. Translation: CAA29686.1.
U93305 Genomic DNA. Translation: AAB92358.1.
AK295524 mRNA. Translation: BAH12095.1.
AK313030 mRNA. Translation: BAG35863.1.
AK315953 mRNA. Translation: BAH14324.1.
AF196779 Genomic DNA. No translation available.
CH471224 Genomic DNA. Translation: EAW50685.1.
BC064550 mRNA. Translation: AAH64550.1.
CCDSiCCDS14321.1.
PIRiA35699.
RefSeqiNP_003170.1. NM_003179.2.
UniGeneiHs.632804.

Genome annotation databases

EnsembliENST00000263233; ENSP00000263233; ENSG00000102003. [P08247-1]
ENST00000479808; ENSP00000418169; ENSG00000102003. [P08247-1]
GeneIDi6855.
KEGGihsa:6855.
UCSCiuc004dmz.1. human. [P08247-1]

Polymorphism databases

DMDMi135162.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Synaptophysin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X06389 mRNA. Translation: CAA29686.1 .
U93305 Genomic DNA. Translation: AAB92358.1 .
AK295524 mRNA. Translation: BAH12095.1 .
AK313030 mRNA. Translation: BAG35863.1 .
AK315953 mRNA. Translation: BAH14324.1 .
AF196779 Genomic DNA. No translation available.
CH471224 Genomic DNA. Translation: EAW50685.1 .
BC064550 mRNA. Translation: AAH64550.1 .
CCDSi CCDS14321.1.
PIRi A35699.
RefSeqi NP_003170.1. NM_003179.2.
UniGenei Hs.632804.

3D structure databases

ProteinModelPortali P08247.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112721. 14 interactions.
IntActi P08247. 1 interaction.
STRINGi 9606.ENSP00000263233.

Protein family/group databases

TCDBi 9.B.130.1.4. the tetraspan vesicle membrane protein (tvp) family.

PTM databases

PhosphoSitei P08247.

Polymorphism databases

DMDMi 135162.

Proteomic databases

MaxQBi P08247.
PaxDbi P08247.
PRIDEi P08247.

Protocols and materials databases

DNASUi 6855.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263233 ; ENSP00000263233 ; ENSG00000102003 . [P08247-1 ]
ENST00000479808 ; ENSP00000418169 ; ENSG00000102003 . [P08247-1 ]
GeneIDi 6855.
KEGGi hsa:6855.
UCSCi uc004dmz.1. human. [P08247-1 ]

Organism-specific databases

CTDi 6855.
GeneCardsi GC0XM049044.
H-InvDB HIX0203320.
HGNCi HGNC:11506. SYP.
HPAi CAB000076.
CAB055505.
HPA002858.
MIMi 300802. phenotype.
313475. gene.
neXtProti NX_P08247.
Orphaneti 777. X-linked non-syndromic intellectual disability.
PharmGKBi PA36288.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG82723.
GeneTreei ENSGT00390000010039.
HOGENOMi HOG000252913.
HOVERGENi HBG006681.
InParanoidi P08247.
OMAi AYGDAGY.
PhylomeDBi P08247.
TreeFami TF315804.

Miscellaneous databases

ChiTaRSi SYP. human.
GeneWikii Synaptophysin.
GenomeRNAii 6855.
NextBioi 26757.
PROi P08247.
SOURCEi Search...

Gene expression databases

Bgeei P08247.
CleanExi HS_SYP.
ExpressionAtlasi P08247. baseline and differential.
Genevestigatori P08247.

Family and domain databases

InterProi IPR008253. Marvel.
IPR001285. Synaptophysin/porin.
IPR028714. SYP.
[Graphical view ]
PANTHERi PTHR10306. PTHR10306. 1 hit.
PTHR10306:SF10. PTHR10306:SF10. 1 hit.
Pfami PF01284. MARVEL. 1 hit.
[Graphical view ]
PRINTSi PR00220. SYNAPTOPHYSN.
PROSITEi PS51225. MARVEL. 1 hit.
PS00604. SYNAPTOP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The cDNA and derived amino acid sequences for rat and human synaptophysin."
    Suedhof T.C., Lottspeich F., Greengard P., Mehl E., Jahn R.
    Nucleic Acids Res. 15:9607-9607(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse."
    Oezcelik T., Lafreniere R.G., Archer B.T. III, Johnston P.A., Willard H.F., Francke U., Suedhof T.C.
    Am. J. Hum. Genet. 47:551-561(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp."
    Fisher S.E., Ciccodicola A., Tanaka K., Curci A., Desicato S., D'Urso M., Craig I.W.
    Genomics 45:340-347(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Amygdala.
  5. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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 1).
    Tissue: Brain.
  8. "Characterization of a multidomain adaptor protein, p140Cap, as part of a pre-synaptic complex."
    Ito H., Atsuzawa K., Sudo K., Di Stefano P., Iwamoto I., Morishita R., Takei S., Semba R., Defilippi P., Asano T., Usuda N., Nagata K.
    J. Neurochem. 107:61-72(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SRCIN1.
  9. "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation."
    Tarpey P.S., Smith R., Pleasance E., Whibley A., Edkins S., Hardy C., O'Meara S., Latimer C., Dicks E., Menzies A., Stephens P., Blow M., Greenman C., Xue Y., Tyler-Smith C., Thompson D., Gray K., Andrews J.
    , Barthorpe S., Buck G., Cole J., Dunmore R., Jones D., Maddison M., Mironenko T., Turner R., Turrell K., Varian J., West S., Widaa S., Wray P., Teague J., Butler A., Jenkinson A., Jia M., Richardson D., Shepherd R., Wooster R., Tejada M.I., Martinez F., Carvill G., Goliath R., de Brouwer A.P., van Bokhoven H., Van Esch H., Chelly J., Raynaud M., Ropers H.H., Abidi F.E., Srivastava A.K., Cox J., Luo Y., Mallya U., Moon J., Parnau J., Mohammed S., Tolmie J.L., Shoubridge C., Corbett M., Gardner A., Haan E., Rujirabanjerd S., Shaw M., Vandeleur L., Fullston T., Easton D.F., Boyle J., Partington M., Hackett A., Field M., Skinner C., Stevenson R.E., Bobrow M., Turner G., Schwartz C.E., Gecz J., Raymond F.L., Futreal P.A., Stratton M.R.
    Nat. Genet. 41:535-543(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MRXSYP ARG-217, VARIANTS [LARGE SCALE ANALYSIS] GLN-2; LEU-158; ASN-166; ASN-248; GLU-277 AND SER-293.

Entry informationi

Entry nameiSYPH_HUMAN
AccessioniPrimary (citable) accession number: P08247
Secondary accession number(s): B2R7L6, B7Z359, Q6P2F7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1991
Last modified: November 26, 2014
This is version 134 of the entry and version 3 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. Human chromosome X
    Human chromosome X: 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