DSCR8_HUMAN
ID DSCR8_HUMAN Reviewed; 97 AA.
AC Q96T75; Q684H4; Q6EXA9; Q8N3X0; Q8NDY5; Q96B46;
DT 10-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 15-NOV-2002, sequence version 2.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Down syndrome critical region protein 8 {ECO:0000303|PubMed:12036297};
DE AltName: Full=Cancer/testis antigen 25;
DE Short=CT25;
DE AltName: Full=DCR1-24.0 {ECO:0000303|PubMed:12213769};
DE AltName: Full=Malignant melanoma-associated protein 1 {ECO:0000303|PubMed:11920614, ECO:0000303|PubMed:15472897};
DE Short=MMA-1 {ECO:0000303|PubMed:11920614, ECO:0000303|PubMed:15472897};
DE AltName: Full=Protein MTAG2;
GN Name=DSCR8 {ECO:0000312|HGNC:HGNC:16707};
GN Synonyms=C21orf65 {ECO:0000312|HGNC:HGNC:16707}, MTAG2;
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 3 AND 4), AND TISSUE SPECIFICITY.
RX PubMed=11920614; DOI=10.1002/ijc.10241;
RA de Wit N.J., Weidle U.H., Ruiter D.J., van Muijen G.N.;
RT "Expression profiling of MMA-1a and splice variant MMA-1b: new
RT cancer/testis antigens identified in human melanoma.";
RL Int. J. Cancer 98:547-553(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RX PubMed=12213769; DOI=10.1101/gr.153702;
RA Toyoda A., Noguchi H., Taylor T.D., Ito T., Pletcher M.T., Sakaki Y.,
RA Reeves R.H., Hattori M.;
RT "Comparative genomic sequence analysis of the human chromosome 21 Down
RT syndrome critical region.";
RL Genome Res. 12:1323-1332(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), AND TISSUE SPECIFICITY.
RX PubMed=12036297; DOI=10.1006/geno.2002.6781;
RA Reymond A., Camargo A.A., Deutsch S., Stevenson B.J., Parmigiani R.B.,
RA Ucla C., Bettoni F., Rossier C., Lyle R., Guipponi M., de Souza S.,
RA Iseli C., Jongeneel C.V., Bucher P., Simpson A.J.G., Antonarakis S.E.;
RT "Nineteen additional unpredicted transcripts from human chromosome 21.";
RL Genomics 79:824-832(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 5 AND 6), AND TISSUE
RP SPECIFICITY.
RX PubMed=15472897; DOI=10.1002/gcc.20107;
RA de Wit N.J., Cornelissen I.M., Diepstra J.H., Weidle U.H., Ruiter D.J.,
RA van Muijen G.N.;
RT "The MMA1 gene family of cancer-testis antigens has multiple alternative
RT splice variants: characterization of their expression profile, the genomic
RT organization, and transcript properties.";
RL Genes Chromosomes Cancer 42:10-21(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Bone marrow;
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 -!- INTERACTION:
CC Q96T75; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-10294182, EBI-10173507;
CC Q96T75-3; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12382810, EBI-16439278;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1; Synonyms=MTAG5, MMA1C {ECO:0000303|PubMed:15472897};
CC IsoId=Q96T75-1; Sequence=Displayed;
CC Name=2; Synonyms=MTAG6, MMA1F {ECO:0000303|PubMed:15472897};
CC IsoId=Q96T75-2; Sequence=VSP_003856, VSP_003857;
CC Name=3; Synonyms=MMA-1a, MMA1A {ECO:0000303|PubMed:11920614};
CC IsoId=Q96T75-3; Sequence=VSP_003858;
CC Name=4; Synonyms=MMA-1b, MMA1B {ECO:0000303|PubMed:11920614};
CC IsoId=Q96T75-4; Sequence=VSP_003859, VSP_003860;
CC Name=5; Synonyms=MMA1D {ECO:0000303|PubMed:15472897};
CC IsoId=Q96T75-5; Sequence=VSP_059067;
CC Name=6; Synonyms=MMA1E {ECO:0000303|PubMed:15472897};
CC IsoId=Q96T75-6; Sequence=VSP_059066;
CC -!- TISSUE SPECIFICITY: Expressed in numerous tissues; not found in breast,
CC heart, small intestine and liver (PubMed:12036297). Isoform 1:
CC Predominantly expressed in the testis (PubMed:11920614,
CC PubMed:15472897). Isoform 3: Predominantly expressed in the testis, at
CC lower level in the placenta, during malignant progression of
CC melanocytic tumors and in several tumors of varying origins
CC (PubMed:11920614, PubMed:15472897). Isoform 4: Predominantly expressed
CC in the testis, at lower level in the placenta, during malignant
CC progression of melanocytic tumors and in several tumors of varying
CC origins (PubMed:11920614, PubMed:15472897). Isoform 5: Predominantly
CC expressed in the testis (PubMed:11920614, PubMed:15472897). Isoform 6:
CC Predominantly expressed in the testis (PubMed:11920614,
CC PubMed:15472897). {ECO:0000269|PubMed:11920614,
CC ECO:0000269|PubMed:12036297, ECO:0000269|PubMed:15472897}.
CC -!- MISCELLANEOUS: Potential cancer-testis antigen, with expression
CC restricted to the testis and certain malignant cells.
CC {ECO:0000305|PubMed:15472897}.
CC -!- MISCELLANEOUS: [Isoform 1]: Predominantly expressed in the testis.
CC {ECO:0000269|PubMed:11920614, ECO:0000269|PubMed:15472897}.
CC -!- MISCELLANEOUS: [Isoform 3]: Predominantly expressed in the testis, at
CC lower level in the placenta, during malignant progression of
CC melanocytic tumors and in several tumors of varying origins.
CC {ECO:0000269|PubMed:11920614, ECO:0000269|PubMed:15472897}.
CC -!- MISCELLANEOUS: [Isoform 4]: Predominantly expressed in the testis, at
CC lower level in the placenta, during malignant progression of
CC melanocytic tumors and in several tumors of varying origins.
CC {ECO:0000269|PubMed:11920614, ECO:0000269|PubMed:15472897}.
CC -!- MISCELLANEOUS: [Isoform 5]: Predominantly expressed in the testis.
CC {ECO:0000269|PubMed:11920614, ECO:0000269|PubMed:15472897}.
CC -!- MISCELLANEOUS: [Isoform 6]: Predominantly expressed in the testis.
CC {ECO:0000269|PubMed:11920614, ECO:0000269|PubMed:15472897}.
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DR EMBL; AJ297914; CAC82786.1; -; mRNA.
DR EMBL; AJ306840; CAC84765.1; -; mRNA.
DR EMBL; AJ306839; CAC84766.1; -; mRNA.
DR EMBL; AJ301615; CAD29791.1; -; mRNA.
DR EMBL; AF321193; AAK52673.1; -; mRNA.
DR EMBL; AF426256; AAM53512.1; -; mRNA.
DR EMBL; AJ783421; CAH03845.1; -; mRNA.
DR EMBL; AJ305085; CAH03994.1; -; mRNA.
DR EMBL; CH471079; EAX09690.1; -; Genomic_DNA.
DR EMBL; AP001417; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC015981; -; NOT_ANNOTATED_CDS; mRNA.
DR AlphaFoldDB; Q96T75; -.
DR IntAct; Q96T75; 2.
DR STRING; 9606.ENSP00000350336; -.
DR BioMuta; DSCR8; -.
DR PaxDb; Q96T75; -.
DR PRIDE; Q96T75; -.
DR ProteomicsDB; 78209; -. [Q96T75-4]
DR UCSC; uc062abe.1; human. [Q96T75-1]
DR GeneCards; DSCR8; -.
DR HGNC; HGNC:16707; DSCR8.
DR MIM; 613396; gene.
DR neXtProt; NX_Q96T75; -.
DR eggNOG; ENOG502TAQZ; Eukaryota.
DR HOGENOM; CLU_187806_0_0_1; -.
DR InParanoid; Q96T75; -.
DR PhylomeDB; Q96T75; -.
DR TreeFam; TF341571; -.
DR PathwayCommons; Q96T75; -.
DR SignaLink; Q96T75; -.
DR ChiTaRS; DSCR8; human.
DR Pharos; Q96T75; Tdark.
DR PRO; PR:Q96T75; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q96T75; protein.
DR Genevisible; Q96T75; HS.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..97
FT /note="Down syndrome critical region protein 8"
FT /id="PRO_0000080021"
FT VAR_SEQ 1..65
FT /note="MKEPGPNFVTVRKGLHSFKMAFVKHLLLFLSPRLECSGSITDHCSLHLPVQE
FT ILMSQPPEQLGLQ -> MHNIMMVKLKKKKST (in isoform 6)"
FT /id="VSP_059066"
FT VAR_SEQ 1..54
FT /note="Missing (in isoform 5)"
FT /id="VSP_059067"
FT VAR_SEQ 1..27
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15472897"
FT /id="VSP_003856"
FT VAR_SEQ 28..37
FT /note="LFLSPRLECS -> QTLEIKKVLE (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:11920614,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_003859"
FT VAR_SEQ 28..33
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11920614,
FT ECO:0000303|PubMed:12036297, ECO:0000303|PubMed:12213769"
FT /id="VSP_003858"
FT VAR_SEQ 28..32
FT /note="LFLSP -> MYSYW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15472897"
FT /id="VSP_003857"
FT VAR_SEQ 38..97
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:11920614,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_003860"
SQ SEQUENCE 97 AA; 10969 MW; 6A59E035E03285C4 CRC64;
MKEPGPNFVT VRKGLHSFKM AFVKHLLLFL SPRLECSGSI TDHCSLHLPV QEILMSQPPE
QLGLQTNLGN QESSGMMKLF MPRPKVLAQY ESIQFMP
