SYNG1_HUMAN
ID SYNG1_HUMAN Reviewed; 258 AA.
AC Q9H7V2; Q6IA30; Q9H514;
DT 10-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Synapse differentiation-inducing gene protein 1;
DE Short=SynDIG1;
DE AltName: Full=Dispanin subfamily C member 2;
DE Short=DSPC2;
DE AltName: Full=Transmembrane protein 90B;
GN Name=SYNDIG1; Synonyms=C20orf39, TMEM90B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Hippocampus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP GENE FAMILY.
RX PubMed=22363774; DOI=10.1371/journal.pone.0031961;
RA Sallman Almen M., Bringeland N., Fredriksson R., Schioth H.B.;
RT "The dispanins: a novel gene family of ancient origin that contains 14
RT human members.";
RL PLoS ONE 7:E31961-E31961(2012).
CC -!- FUNCTION: May regulate AMPA receptor content at nascent synapses, and
CC have a role in postsynaptic development and maturation. {ECO:0000250}.
CC -!- SUBUNIT: Homodimer. Interacts with GRIA1 and GRIA2 (By similarity).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q9H7V2; Q13520: AQP6; NbExp=3; IntAct=EBI-726331, EBI-13059134;
CC Q9H7V2; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-726331, EBI-18535450;
CC Q9H7V2; Q969F0: FATE1; NbExp=6; IntAct=EBI-726331, EBI-743099;
CC Q9H7V2; O15552: FFAR2; NbExp=3; IntAct=EBI-726331, EBI-2833872;
CC Q9H7V2; O15529: GPR42; NbExp=3; IntAct=EBI-726331, EBI-18076404;
CC Q9H7V2; Q9NZD1: GPRC5D; NbExp=3; IntAct=EBI-726331, EBI-13067820;
CC Q9H7V2; O95214: LEPROTL1; NbExp=3; IntAct=EBI-726331, EBI-750776;
CC Q9H7V2; P21145: MAL; NbExp=3; IntAct=EBI-726331, EBI-3932027;
CC Q9H7V2; Q6ZSS7: MFSD6; NbExp=3; IntAct=EBI-726331, EBI-2858252;
CC Q9H7V2; Q7RTY0: SLC16A13; NbExp=3; IntAct=EBI-726331, EBI-12243266;
CC Q9H7V2; Q9NQQ7-3: SLC35C2; NbExp=3; IntAct=EBI-726331, EBI-17295964;
CC Q9H7V2; Q8IVJ1: SLC41A1; NbExp=3; IntAct=EBI-726331, EBI-12266234;
CC Q9H7V2; Q96MV1: TLCD4; NbExp=3; IntAct=EBI-726331, EBI-12947623;
CC Q9H7V2; Q9BTV4: TMEM43; NbExp=3; IntAct=EBI-726331, EBI-721293;
CC Q9H7V2; Q9H1C4: UNC93B1; NbExp=3; IntAct=EBI-726331, EBI-4401271;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane
CC protein. Early endosome membrane {ECO:0000250}; Single-pass type II
CC membrane protein {ECO:0000250}. Postsynaptic density membrane
CC {ECO:0000250}. Synapse {ECO:0000250}. Cell projection, dendrite
CC {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}.
CC Note=Shuttles between the cell surface and early endosome membrane.
CC {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the CD225/Dispanin family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK024282; BAB14872.1; -; mRNA.
DR EMBL; CR457325; CAG33606.1; -; mRNA.
DR EMBL; AL049594; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL157413; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC030637; AAH30637.1; -; mRNA.
DR CCDS; CCDS13164.1; -.
DR RefSeq; NP_001310535.1; NM_001323606.1.
DR RefSeq; NP_001310536.1; NM_001323607.1.
DR RefSeq; NP_079169.1; NM_024893.2.
DR RefSeq; XP_016883554.1; XM_017028065.1.
DR RefSeq; XP_016883555.1; XM_017028066.1.
DR RefSeq; XP_016883556.1; XM_017028067.1.
DR RefSeq; XP_016883557.1; XM_017028068.1.
DR AlphaFoldDB; Q9H7V2; -.
DR BioGRID; 123022; 28.
DR IntAct; Q9H7V2; 16.
DR STRING; 9606.ENSP00000366058; -.
DR TCDB; 8.A.58.2.13; the dispanin (dispanin) family.
DR iPTMnet; Q9H7V2; -.
DR PhosphoSitePlus; Q9H7V2; -.
DR BioMuta; SYNDIG1; -.
DR DMDM; 23813901; -.
DR MassIVE; Q9H7V2; -.
DR PaxDb; Q9H7V2; -.
DR PeptideAtlas; Q9H7V2; -.
DR PRIDE; Q9H7V2; -.
DR ProteomicsDB; 81151; -.
DR ABCD; Q9H7V2; 1 sequenced antibody.
DR Antibodypedia; 62829; 29 antibodies from 14 providers.
DR DNASU; 79953; -.
DR Ensembl; ENST00000376862.4; ENSP00000366058.3; ENSG00000101463.6.
DR GeneID; 79953; -.
DR KEGG; hsa:79953; -.
DR MANE-Select; ENST00000376862.4; ENSP00000366058.3; NM_024893.3; NP_079169.1.
DR UCSC; uc002wtw.3; human.
DR CTD; 79953; -.
DR DisGeNET; 79953; -.
DR GeneCards; SYNDIG1; -.
DR HGNC; HGNC:15885; SYNDIG1.
DR HPA; ENSG00000101463; Tissue enhanced (brain, heart muscle).
DR MIM; 614311; gene.
DR neXtProt; NX_Q9H7V2; -.
DR OpenTargets; ENSG00000101463; -.
DR PharmGKB; PA25752; -.
DR VEuPathDB; HostDB:ENSG00000101463; -.
DR eggNOG; ENOG502QQXK; Eukaryota.
DR GeneTree; ENSGT00950000183147; -.
DR HOGENOM; CLU_094250_0_0_1; -.
DR InParanoid; Q9H7V2; -.
DR OMA; LGSECCE; -.
DR OrthoDB; 1273993at2759; -.
DR PhylomeDB; Q9H7V2; -.
DR TreeFam; TF331357; -.
DR PathwayCommons; Q9H7V2; -.
DR SignaLink; Q9H7V2; -.
DR BioGRID-ORCS; 79953; 9 hits in 1063 CRISPR screens.
DR ChiTaRS; SYNDIG1; human.
DR GenomeRNAi; 79953; -.
DR Pharos; Q9H7V2; Tdark.
DR PRO; PR:Q9H7V2; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9H7V2; protein.
DR Bgee; ENSG00000101463; Expressed in C1 segment of cervical spinal cord and 138 other tissues.
DR Genevisible; Q9H7V2; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0044297; C:cell body; ISS:UniProtKB.
DR GO; GO:0043198; C:dendritic shaft; ISS:UniProtKB.
DR GO; GO:0043197; C:dendritic spine; ISS:UniProtKB.
DR GO; GO:0031901; C:early endosome membrane; ISS:UniProtKB.
DR GO; GO:0060076; C:excitatory synapse; ISS:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; ISS:UniProtKB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0014069; C:postsynaptic density; ISS:UniProtKB.
DR GO; GO:0098839; C:postsynaptic density membrane; IBA:GO_Central.
DR GO; GO:0030672; C:synaptic vesicle membrane; IBA:GO_Central.
DR GO; GO:0035254; F:glutamate receptor binding; ISS:UniProtKB.
DR GO; GO:0042803; F:protein homodimerization activity; ISS:UniProtKB.
DR GO; GO:0006886; P:intracellular protein transport; ISS:UniProtKB.
DR GO; GO:0051965; P:positive regulation of synapse assembly; IDA:UniProtKB.
DR GO; GO:0097091; P:synaptic vesicle clustering; ISS:UniProtKB.
DR InterPro; IPR007593; CD225/Dispanin_fam.
DR Pfam; PF04505; CD225; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Cell projection; Endosome; Membrane; Phosphoprotein;
KW Postsynaptic cell membrane; Reference proteome; Signal-anchor; Synapse;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..258
FT /note="Synapse differentiation-inducing gene protein 1"
FT /id="PRO_0000135696"
FT TOPO_DOM 1..181
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 182..202
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 203..228
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT INTRAMEM 229..249
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 250..258
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT MOD_RES 137
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q58DZ9"
FT VARIANT 54
FT /note="G -> R (in dbSNP:rs6083553)"
FT /id="VAR_053733"
SQ SEQUENCE 258 AA; 28551 MW; 89EDF1AE382246A2 CRC64;
MDGIIEQKSM LVHSKISDAG KRNGLINTRN LMAESRDGLV SVYPAPQYQS HRVGASTVPA
SLDSSRSEPM QQLLDPNTLQ QSVESRYRPN IILYSEGVLR SWGDGVAADC CETTFIEDRS
PTKDSLEYPD GKFIDLSADD IKIHTLSYDV EEEEEFQELE SDYSSDTESE DNFLMMPPRD
HLGLSVFSML CCFWPLGIAA FYLSHETNKA VAKGDLHQAS TSSRRALFLA VLSITIGTGV
YVGVAVALIA YLSKNNHL
