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Q9H7V2

- SYNG1_HUMAN

UniProt

Q9H7V2 - SYNG1_HUMAN

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Protein

Synapse differentiation-inducing gene protein 1

Gene

SYNDIG1

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

Functioni

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

GO - Molecular functioni

  1. glutamate receptor binding Source: UniProtKB
  2. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. intracellular protein transport Source: UniProtKB
  2. positive regulation of synapse assembly Source: UniProtKB
  3. response to biotic stimulus Source: InterPro
  4. synaptic vesicle clustering Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:SYNDIG1
Synonyms:C20orf39, TMEM90B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:15885. SYNDIG1.

Subcellular locationi

Cell membrane; Single-pass type II membrane protein. Early endosome membrane By similarity; 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

GO - Cellular componenti

  1. cell body Source: UniProtKB
  2. cell junction Source: UniProtKB-KW
  3. dendritic shaft Source: UniProtKB
  4. dendritic spine Source: UniProtKB
  5. early endosome membrane Source: UniProtKB
  6. excitatory synapse Source: UniProtKB
  7. integral component of plasma membrane Source: UniProtKB
  8. postsynaptic density Source: UniProtKB
  9. postsynaptic membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Endosome, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25752.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 258258Synapse differentiation-inducing gene protein 1PRO_0000135696Add
BLAST

Proteomic databases

PaxDbiQ9H7V2.
PRIDEiQ9H7V2.

PTM databases

PhosphoSiteiQ9H7V2.

Expressioni

Gene expression databases

BgeeiQ9H7V2.
CleanExiHS_C20orf39.
GenevestigatoriQ9H7V2.

Organism-specific databases

HPAiHPA059267.

Interactioni

Subunit structurei

Homodimer. Interacts with GRIA1 and GRIA2 (By similarity).By similarity

Protein-protein interaction databases

BioGridi123022. 1 interaction.
IntActiQ9H7V2. 1 interaction.
MINTiMINT-1378766.
STRINGi9606.ENSP00000366058.

Structurei

3D structure databases

ProteinModelPortaliQ9H7V2.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 181181CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini203 – 22826ExtracellularSequence AnalysisAdd
BLAST
Topological domaini250 – 2589ExtracellularSequence Analysis

Intramembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei229 – 24921HelicalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei182 – 20221HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi151 – 1555Poly-Glu

Sequence similaritiesi

Belongs to the CD225/Dispanin family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG41838.
GeneTreeiENSGT00390000009914.
HOVERGENiHBG051163.
InParanoidiQ9H7V2.
OMAiNFMAESR.
OrthoDBiEOG7P5T2F.
PhylomeDBiQ9H7V2.
TreeFamiTF331357.

Family and domain databases

InterProiIPR007593. CD225/Dispanin_fam.
[Graphical view]
PfamiPF04505. Dispanin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9H7V2-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MDGIIEQKSM LVHSKISDAG KRNGLINTRN LMAESRDGLV SVYPAPQYQS
60 70 80 90 100
HRVGASTVPA SLDSSRSEPM QQLLDPNTLQ QSVESRYRPN IILYSEGVLR
110 120 130 140 150
SWGDGVAADC CETTFIEDRS PTKDSLEYPD GKFIDLSADD IKIHTLSYDV
160 170 180 190 200
EEEEEFQELE SDYSSDTESE DNFLMMPPRD HLGLSVFSML CCFWPLGIAA
210 220 230 240 250
FYLSHETNKA VAKGDLHQAS TSSRRALFLA VLSITIGTGV YVGVAVALIA

YLSKNNHL
Length:258
Mass (Da):28,551
Last modified:March 1, 2001 - v1
Checksum:i89EDF1AE382246A2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541G → R.
Corresponds to variant rs6083553 [ dbSNP | Ensembl ].
VAR_053733

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS13164.1.
RefSeqiNP_079169.1. NM_024893.2.
XP_006723689.1. XM_006723626.1.
XP_006723690.1. XM_006723627.1.
UniGeneiHs.124638.

Genome annotation databases

EnsembliENST00000376862; ENSP00000366058; ENSG00000101463.
GeneIDi79953.
KEGGihsa:79953.
UCSCiuc002wtw.1. human.

Polymorphism databases

DMDMi23813901.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS13164.1.
RefSeqi NP_079169.1. NM_024893.2.
XP_006723689.1. XM_006723626.1.
XP_006723690.1. XM_006723627.1.
UniGenei Hs.124638.

3D structure databases

ProteinModelPortali Q9H7V2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123022. 1 interaction.
IntActi Q9H7V2. 1 interaction.
MINTi MINT-1378766.
STRINGi 9606.ENSP00000366058.

PTM databases

PhosphoSitei Q9H7V2.

Polymorphism databases

DMDMi 23813901.

Proteomic databases

PaxDbi Q9H7V2.
PRIDEi Q9H7V2.

Protocols and materials databases

DNASUi 79953.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000376862 ; ENSP00000366058 ; ENSG00000101463 .
GeneIDi 79953.
KEGGi hsa:79953.
UCSCi uc002wtw.1. human.

Organism-specific databases

CTDi 79953.
GeneCardsi GC20P024451.
HGNCi HGNC:15885. SYNDIG1.
HPAi HPA059267.
MIMi 614311. gene.
neXtProti NX_Q9H7V2.
PharmGKBi PA25752.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41838.
GeneTreei ENSGT00390000009914.
HOVERGENi HBG051163.
InParanoidi Q9H7V2.
OMAi NFMAESR.
OrthoDBi EOG7P5T2F.
PhylomeDBi Q9H7V2.
TreeFami TF331357.

Miscellaneous databases

GenomeRNAii 79953.
NextBioi 69921.
PROi Q9H7V2.
SOURCEi Search...

Gene expression databases

Bgeei Q9H7V2.
CleanExi HS_C20orf39.
Genevestigatori Q9H7V2.

Family and domain databases

InterProi IPR007593. CD225/Dispanin_fam.
[Graphical view ]
Pfami PF04505. Dispanin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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.

Entry informationi

Entry nameiSYNG1_HUMAN
AccessioniPrimary (citable) accession number: Q9H7V2
Secondary accession number(s): Q6IA30, Q9H514
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 97 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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