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[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT CYS-47.
DOI=10.1006/geno.1997.5046; PubMed=9441739 [NCBI, ExPASy, EBI, Israel, Japan]
Funke B.,
St Jore B.,
Puech A.,
Sirotkin H.,
Edelmann L.,
Carlson C.,
Raft S.,
Pandita R.K.,
Kucherlapati R.,
Skoultchi A.,
Morrow B.E.;
"Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11.";
Genomics 46:364-372(1997).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=9150167 [NCBI, ExPASy, EBI, Israel, Japan]
Gottlieb S.,
Emanuel B.S.,
Driscoll D.A.,
Sellinger B.,
Wang Z.,
Roe B.,
Budarf M.L.;
"The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development.";
Am. J. Hum. Genet. 60:1194-1201(1997).
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- FUNCTION: May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.
- SUBCELLULAR LOCATION: Nucleus (By similarity).
- TISSUE SPECIFICITY: Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels.
- DEVELOPMENTAL STAGE: Expressed in early human development as well as in a limited number of adult tissues.
- DISEASE: May play a part in the etiology of the velocardiofacial/DiGeorge syndrome (VCFS/DGS), a developmental disorder characterized by structural and functional palate anomalies, conotruncal cardiac malformations, immunodeficiency, hypocalcemia, and typical facial anomalies. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR).
- SIMILARITY: Belongs to the paired homeobox family. Bicoid subfamily.
- SIMILARITY: Contains 1 homeobox DNA-binding domain.
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Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
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| Length: 205 AA [This is the length of the unprocessed precursor] |
Molecular weight: 21545 Da [This is the MW of the unprocessed precursor] |
CRC64: 665C33D9C454E7A7 [This is a checksum on the sequence] |
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10 20 30 40 50 60
MAAAAGGAAS RRGAGRPCPF SIEHILSSLP ERSLPARAAC PPQPAGRQSP AKPEEPGAPE
70 80 90 100 110 120
AAPCACCCCC GPRAAPCGPP EAAAGLGARL AWPLRLGPAV PLSLGAPAGG SGALPGAVGP
130 140 150 160 170 180
GSQRRTRRHR TIFSEEQLQA LEALFVQNQY PDVSTRERLA GRIRLREERV EVWFKNRRAK
190 200
WRHQKRASAS ARLLPGVKKS PKGSC
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O15499 in FASTA format |
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