CECR9_HUMAN
ID CECR9_HUMAN Reviewed; 216 AA.
AC P0C854;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-SEP-2008, sequence version 1.
DT 25-MAY-2022, entry version 37.
DE RecName: Full=Putative cat eye syndrome critical region protein 9;
DE Flags: Precursor;
GN Name=CECR9;
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 GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 136-200, AND TISSUE SPECIFICITY.
RX PubMed=11381032; DOI=10.1101/gr.154901;
RA Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A.,
RA Bridgland L.J., Hu S., Birren B., Minoshima S., Shimizu N., Pan H.,
RA Nguyen T., Fang F., Fu Y., Ray L., Wu H., Shaull S., Phan S., Yao Z.,
RA Chen F., Huan A., Hu P., Wang Q., Loh P., Qi S., Roe B.A., McDermid H.E.;
RT "Analysis of the cat eye syndrome critical region in humans and the region
RT of conserved synteny in mice: a search for candidate genes at or near the
RT human chromosome 22 pericentromere.";
RL Genome Res. 11:1053-1070(2001).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in
CC heart. {ECO:0000269|PubMed:11381032}.
CC -!- MISCELLANEOUS: Candidate gene for the Cat Eye Syndrome (CES), a
CC developmental disorder associated with the duplication of a 2 Mb region
CC of 22q11.2. Duplication usually takes in the form of a surpernumerary
CC bisatellited isodicentric chromosome, resulting in four copies of the
CC region (represents an inv dup(22)(q11)). CES is characterized
CC clinically by the combination of coloboma of the iris and anal atresia
CC with fistula, downslanting palpebral fissures, preauricular tags and/or
CC pits, frequent occurrence of heart and renal malformations, and normal
CC or near-normal mental development.
CC -!- CAUTION: Product of a dubious gene prediction. {ECO:0000305}.
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DR EMBL; AC005399; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF307449; -; NOT_ANNOTATED_CDS; mRNA.
DR AlphaFoldDB; P0C854; -.
DR GlyGen; P0C854; 1 site.
DR BioMuta; HGNC:1847; -.
DR PRIDE; P0C854; -.
DR ProteomicsDB; 52397; -.
DR GeneCards; CECR9; -.
DR HGNC; HGNC:1847; CECR9.
DR neXtProt; NX_P0C854; -.
DR Pharos; P0C854; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; P0C854; protein.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
PE 5: Uncertain;
KW Glycoprotein; Reference proteome; Secreted; Signal.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..216
FT /note="Putative cat eye syndrome critical region protein 9"
FT /id="PRO_0000347336"
FT CARBOHYD 148
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
SQ SEQUENCE 216 AA; 23602 MW; FD130165B3B5F000 CRC64;
MQSHLAPLAC AAAAGRAGGS CQAAQPEDRR VLRYPGTAVM VTCPNRPLVP RPLLTPGGSR
ASLALCAFVA VPQRIPQPLL PAYILLMLPS LVVDMALPSS RLLRSIKPIQ PASQVVRKER
NPNPNCPQSD PLMKASSTSF LSHTYLINKT RSTTRKVEEH SWFTCTGAKY FAIPLAERNT
KRLTKRSTHA QLLRGKQDGS EWVVPRSSAS SNVLYH
