GTSC1_HUMAN
ID GTSC1_HUMAN Reviewed; 136 AA.
AC Q86UQ5; J3KSW9;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 03-SEP-2014, sequence version 2.
DT 25-MAY-2022, entry version 81.
DE RecName: Full=Gilles de la Tourette syndrome chromosomal region candidate gene 1 protein;
GN Name=GTSCR1;
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 [MRNA].
RX PubMed=12682296; DOI=10.1073/pnas.0730775100;
RA State M.W., Greally J.M., Cuker A., Bowers P.N., Henegariu O., Morgan T.,
RA Gunel M., DiLuna M., King R.A., Nelson C., Donovan A., Anderson G.M.,
RA Leckman J.F., Hawkins T., Pauls D.L., Lifton R.P., Ward D.C.;
RT "Epigenetic abnormalities associated with a chromosome 18(q21-q22)
RT inversion and a Gilles de la Tourette syndrome phenotype.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:4684-4689(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- CAUTION: Could be the product of a pseudogene. {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; AY262164; AAP13553.1; -; mRNA.
DR EMBL; AC091646; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_001265444.1; NM_001278515.1.
DR AlphaFoldDB; Q86UQ5; -.
DR IntAct; Q86UQ5; 1.
DR BioMuta; HGNC:18406; -.
DR PaxDb; Q86UQ5; -.
DR PRIDE; Q86UQ5; -.
DR GeneCards; GTSCR1; -.
DR HGNC; HGNC:18406; GTSCR1.
DR neXtProt; NX_Q86UQ5; -.
DR InParanoid; Q86UQ5; -.
DR OrthoDB; 1479340at2759; -.
DR TreeFam; TF341508; -.
DR PathwayCommons; Q86UQ5; -.
DR BioGRID-ORCS; 220158; 4 hits in 511 CRISPR screens.
DR ChiTaRS; GTSCR1; human.
DR GenomeRNAi; 220158; -.
DR Pharos; Q86UQ5; Tdark.
DR PRO; PR:Q86UQ5; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q86UQ5; protein.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
PE 5: Uncertain;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..136
FT /note="Gilles de la Tourette syndrome chromosomal region
FT candidate gene 1 protein"
FT /id="PRO_0000271344"
FT TRANSMEM 73..93
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CONFLICT 19..35
FT /note="WVHSCGHEGHLRETAEI -> KVTYTILATASQVGSFA (in Ref. 1;
FT AAP13553)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 136 AA; 15623 MW; 62DC0F08C34340DA CRC64;
MQSDIYHPGH SFPSWVLCWV HSCGHEGHLR ETAEIRKTHQ NGDLQIRGGR GRRESTEIFQ
VASVTEGEES PPAICMEVFL FLWFIAPIYA CVCRIFKIQV RNTVKNSSTA SLAPSISTSE
ERQIRIERHH YHLYGQ