CSAG1_HUMAN
ID CSAG1_HUMAN Reviewed; 78 AA.
AC Q6PB30; A0A024RC18; A6NE22;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 3.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Putative chondrosarcoma-associated gene 1 protein;
DE AltName: Full=Cancer/testis antigen 24.1;
DE Short=CT24.1;
DE AltName: Full=Cancer/testis antigen CSAGE;
DE Flags: Precursor;
GN Name=CSAG1; Synonyms=CSAGE;
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] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
RX PubMed=12039054; DOI=10.1016/s0378-1119(02)00395-5;
RA Lin C., Mak S., Meitner P.A., Wolf J.M., Bluman E.M., Block J.A.,
RA Terek R.M.;
RT "Cancer/testis antigen CSAGE is concurrently expressed with MAGE in
RT chondrosarcoma.";
RL Gene 285:269-278(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Mammary gland;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=CSAG1a;
CC IsoId=Q6PB30-1; Sequence=Displayed;
CC Name=2; Synonyms=CSAG1c;
CC IsoId=Q6PB30-2; Sequence=VSP_026267;
CC -!- TISSUE SPECIFICITY: Expressed in chondrosarcoma, melanoma, cartilage
CC and testis, but not in other normal tissues.
CC {ECO:0000269|PubMed:12039054}.
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DR EMBL; AF195880; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AF268419; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC244102; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF002997; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471169; EAW99433.1; -; Genomic_DNA.
DR EMBL; CH471169; EAW99435.1; -; Genomic_DNA.
DR EMBL; BC059947; AAH59947.1; -; mRNA.
DR CCDS; CCDS76047.1; -. [Q6PB30-1]
DR RefSeq; NP_001096046.2; NM_001102576.2. [Q6PB30-1]
DR RefSeq; NP_705611.2; NM_153478.2. [Q6PB30-1]
DR AlphaFoldDB; Q6PB30; -.
DR BioGRID; 127689; 11.
DR IntAct; Q6PB30; 70.
DR MINT; Q6PB30; -.
DR STRING; 9606.ENSP00000359310; -.
DR iPTMnet; Q6PB30; -.
DR PhosphoSitePlus; Q6PB30; -.
DR BioMuta; CSAG1; -.
DR PaxDb; Q6PB30; -.
DR PRIDE; Q6PB30; -.
DR Antibodypedia; 71999; 53 antibodies from 13 providers.
DR DNASU; 158511; -.
DR Ensembl; ENST00000370287.7; ENSP00000359310.3; ENSG00000198930.13. [Q6PB30-1]
DR Ensembl; ENST00000370291.6; ENSP00000359314.2; ENSG00000198930.13. [Q6PB30-2]
DR Ensembl; ENST00000452779.3; ENSP00000396520.2; ENSG00000198930.13. [Q6PB30-1]
DR GeneID; 158511; -.
DR KEGG; hsa:158511; -.
DR MANE-Select; ENST00000452779.3; ENSP00000396520.2; NM_001102576.3; NP_001096046.2.
DR UCSC; uc033fah.1; human.
DR UCSC; uc065brz.1; human. [Q6PB30-1]
DR CTD; 158511; -.
DR DisGeNET; 158511; -.
DR GeneCards; CSAG1; -.
DR HGNC; HGNC:24294; CSAG1.
DR HPA; ENSG00000198930; Tissue enhanced (brain, choroid plexus).
DR MIM; 300944; gene.
DR neXtProt; NX_Q6PB30; -.
DR OpenTargets; ENSG00000198930; -.
DR PharmGKB; PA134962241; -.
DR VEuPathDB; HostDB:ENSG00000198930; -.
DR eggNOG; ENOG502TFI5; Eukaryota.
DR GeneTree; ENSGT00390000012766; -.
DR InParanoid; Q6PB30; -.
DR OMA; GGDQVDW; -.
DR OrthoDB; 1407896at2759; -.
DR PhylomeDB; Q6PB30; -.
DR TreeFam; TF340411; -.
DR PathwayCommons; Q6PB30; -.
DR SignaLink; Q6PB30; -.
DR BioGRID-ORCS; 158511; 13 hits in 632 CRISPR screens.
DR GenomeRNAi; 158511; -.
DR Pharos; Q6PB30; Tbio.
DR PRO; PR:Q6PB30; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q6PB30; protein.
DR Bgee; ENSG00000198930; Expressed in putamen and 50 other tissues.
DR ExpressionAtlas; Q6PB30; baseline and differential.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..78
FT /note="Putative chondrosarcoma-associated gene 1 protein"
FT /id="PRO_0000291848"
FT REGION 35..78
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 41..55
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 57..78
FT /note="FPRQPRREKGPVKEVPGTKGSP -> RGRGKHPLIPGPEALSK (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:12039054"
FT /id="VSP_026267"
FT VARIANT 28
FT /note="Y -> F (in dbSNP:rs1894359)"
FT /id="VAR_032868"
FT VARIANT 62
FT /note="R -> K (in dbSNP:rs2515848)"
FT /id="VAR_047336"
FT CONFLICT 28
FT /note="Y -> C (in Ref. 1; AF195880)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 78 AA; 8697 MW; 643C38BDDB554575 CRC64;
MSATTACWPA FTVLGEARGD QVDWSRLYRD TGLVKMSRKP RASSPFSNNH PSTPKRFPRQ
PRREKGPVKE VPGTKGSP
