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Q9H7V2 (SYNG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Synapse differentiation-inducing gene protein 1

Short name=SynDIG1
Alternative name(s):
Dispanin subfamily C member 2
Short name=DSPC2
Transmembrane protein 90B
Gene names
Name:SYNDIG1
Synonyms:C20orf39, TMEM90B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length258 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May regulate AMPA receptor content at nascent synapses, and have a role in postsynaptic development and maturation By similarity.

Subunit structure

Homodimer. Interacts with GRIA1 and GRIA2 By similarity.

Subcellular location

Cell membrane; Single-pass type II membrane protein. Early endosome membrane; Single-pass type II membrane protein By similarity. Cell junctionsynapsepostsynaptic cell membranepostsynaptic density By similarity. Cell junctionsynapse By similarity. Cell projectiondendrite By similarity. Cell projectiondendritic spine By similarity. Note: Shuttles between the cell surface and early endosome membrane By similarity.

Sequence similarities

Belongs to the CD225/Dispanin family.

Ontologies

Keywords
   Cellular componentCell junction
Cell membrane
Cell projection
Endosome
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityPolymorphism
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processintracellular protein transport

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of synapse assembly

Inferred from direct assay PubMed 20152115. Source: UniProtKB

response to biotic stimulus

Inferred from electronic annotation. Source: InterPro

synaptic vesicle clustering

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentcell body

Inferred from sequence or structural similarity. Source: UniProtKB

cell junction

Inferred from electronic annotation. Source: UniProtKB-KW

dendritic shaft

Inferred from sequence or structural similarity. Source: UniProtKB

dendritic spine

Inferred from sequence or structural similarity. Source: UniProtKB

early endosome membrane

Inferred from sequence or structural similarity. Source: UniProtKB

excitatory synapse

Inferred from sequence or structural similarity. Source: UniProtKB

integral component of plasma membrane

Inferred from sequence or structural similarity. Source: UniProtKB

postsynaptic density

Inferred from sequence or structural similarity. Source: UniProtKB

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionglutamate receptor binding

Inferred from sequence or structural similarity. Source: UniProtKB

protein homodimerization activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 258258Synapse differentiation-inducing gene protein 1
PRO_0000135696

Regions

Topological domain1 – 181181Cytoplasmic Potential
Transmembrane182 – 20221Helical; Potential
Topological domain203 – 22826Extracellular Potential
Intramembrane229 – 24921Helical; Potential
Topological domain250 – 2589Extracellular Potential
Compositional bias151 – 1555Poly-Glu

Natural variations

Natural variant541G → R.
Corresponds to variant rs6083553 [ dbSNP | Ensembl ].
VAR_053733

Sequences

Sequence LengthMass (Da)Tools
Q9H7V2 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 89EDF1AE382246A2

FASTA25828,551
        10         20         30         40         50         60 
MDGIIEQKSM LVHSKISDAG KRNGLINTRN LMAESRDGLV SVYPAPQYQS HRVGASTVPA 

        70         80         90        100        110        120 
SLDSSRSEPM QQLLDPNTLQ QSVESRYRPN IILYSEGVLR SWGDGVAADC CETTFIEDRS 

       130        140        150        160        170        180 
PTKDSLEYPD GKFIDLSADD IKIHTLSYDV EEEEEFQELE SDYSSDTESE DNFLMMPPRD 

       190        200        210        220        230        240 
HLGLSVFSML CCFWPLGIAA FYLSHETNKA VAKGDLHQAS TSSRRALFLA VLSITIGTGV 

       250 
YVGVAVALIA YLSKNNHL 

« Hide

References

« Hide 'large scale' references
[1]"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. expand/collapse author list , 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].
[2]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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].
Tissue: Hippocampus.
[5]"The dispanins: a novel gene family of ancient origin that contains 14 human members."
Sallman Almen M., Bringeland N., Fredriksson R., Schioth H.B.
PLoS ONE 7:E31961-E31961(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: GENE FAMILY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK024282 mRNA. Translation: BAB14872.1.
CR457325 mRNA. Translation: CAG33606.1.
AL049594, AL157413 Genomic DNA. Translation: CAI23040.1.
AL157413, AL049594 Genomic DNA. Translation: CAI15132.1.
BC030637 mRNA. Translation: AAH30637.1.
RefSeqNP_079169.1. NM_024893.2.
UniGeneHs.124638.

3D structure databases

ProteinModelPortalQ9H7V2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9H7V2. 1 interaction.
MINTMINT-1378766.
STRING9606.ENSP00000366058.

PTM databases

PhosphoSiteQ9H7V2.

Polymorphism databases

DMDM23813901.

Proteomic databases

PaxDbQ9H7V2.
PRIDEQ9H7V2.

Protocols and materials databases

DNASU79953.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000376862; ENSP00000366058; ENSG00000101463.
GeneID79953.
KEGGhsa:79953.
UCSCuc002wtw.1. human.

Organism-specific databases

CTD79953.
GeneCardsGC20P024451.
HGNCHGNC:15885. SYNDIG1.
HPAHPA059267.
MIM614311. gene.
neXtProtNX_Q9H7V2.
PharmGKBPA25752.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41838.
HOVERGENHBG051163.
InParanoidQ9H7V2.
OMANFMAESR.
OrthoDBEOG7P5T2F.
PhylomeDBQ9H7V2.
TreeFamTF331357.

Gene expression databases

BgeeQ9H7V2.
CleanExHS_C20orf39.
GenevestigatorQ9H7V2.

Family and domain databases

InterProIPR007593. CD225/Dispanin_fam.
[Graphical view]
PfamPF04505. Dispanin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79953.
NextBio69921.
PROQ9H7V2.
SOURCESearch...

Entry information

Entry nameSYNG1_HUMAN
AccessionPrimary (citable) accession number: Q9H7V2
Secondary accession number(s): Q6IA30, Q9H514
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: March 1, 2001
Last modified: April 16, 2014
This is version 93 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM