LOCUS NP_000494 592 aa linear PRI 24-OCT-2008
DEFINITION eyes absent 1 isoform b [Homo sapiens].
ACCESSION NP_000494
VERSION NP_000494.2 GI:19923100
DBSOURCE REFSEQ: accession NM_000503.4
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 592)
AUTHORS Orten,D.J., Fischer,S.M., Sorensen,J.L., Radhakrishna,U.,
Cremers,C.W., Marres,H.A., Van Camp,G., Welch,K.O., Smith,R.J. and
Kimberling,W.J.
TITLE Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1
gene, and a review of the mutational genetics of BOR
JOURNAL Hum. Mutat. 29 (4), 537-544 (2008)
PUBMED 18220287
REMARK GeneRIF: EYA1 mutations were found in 31% of families fitting
established clinical criteria for branchio-oto-renal syndrome (BOR)
and 7% of families with questionable BOR phenotype
REFERENCE 2 (residues 1 to 592)
AUTHORS Hoskins,B.E., Cramer,C.H. II, Tasic,V., Kehinde,E.O., Ashraf,S.,
Bogdanovic,R., Hoefele,J., Pohl,M. and Hildebrandt,F.
TITLE Missense mutations in EYA1 and TCF2 are a rare cause of urinary
tract malformations
JOURNAL Nephrol. Dial. Transplant. 23 (2), 777-779 (2008)
PUBMED 18065799
REMARK GeneRIF: results indicate that mutations in EYA1 and TCF2 rarely
result in an isolated Congenital anomalies of the kidney and
urinary tract (CAKUT) phenotype.
REFERENCE 3 (residues 1 to 592)
AUTHORS Sanggaard,K.M., Rendtorff,N.D., Kjaer,K.W., Eiberg,H., Johnsen,T.,
Gimsing,S., Dyrmose,J., Nielsen,K.O., Lage,K. and Tranebjaerg,L.
TITLE Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations
in five out of six Danish families by combining linkage, MLPA and
sequencing analyses
JOURNAL Eur. J. Hum. Genet. 15 (11), 1121-1131 (2007)
PUBMED 17637804
REMARK GeneRIF: Four EYA1 mutations provide a molecular diagnosis of
branchio-oto-renal syndrome in five out of six Danish families.
REFERENCE 4 (residues 1 to 592)
AUTHORS Lee,K.Y., Kim,S., Kim,U.K., Ki,C.S. and Lee,S.H.
TITLE Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family
JOURNAL Int. J. Pediatr. Otorhinolaryngol. 71 (1), 169-174 (2007)
PUBMED 17049623
REMARK GeneRIF: We report a second Korean family with branchio-oto-renal
syndrome with a novel nonsense EYA1 mutation
REFERENCE 5 (residues 1 to 592)
AUTHORS Gottlieb,D.J., O'Connor,G.T. and Wilk,J.B.
TITLE Genome-wide association of sleep and circadian phenotypes
JOURNAL BMC Med. Genet. 8 SUPPL 1, S9 (2007)
PUBMED 17903308
REMARK Publication Status: Online-Only
REFERENCE 6 (residues 1 to 592)
AUTHORS Pignoni,F., Hu,B., Zavitz,K.H., Xiao,J., Garrity,P.A. and
Zipursky,S.L.
TITLE The eye-specification proteins So and Eya form a complex and
regulate multiple steps in Drosophila eye development
JOURNAL Cell 91 (7), 881-891 (1997)
PUBMED 9428512
REMARK Erratum:[Cell 1998 Feb 20;92(4):following 585]
REFERENCE 7 (residues 1 to 592)
AUTHORS Abdelhak,S., Kalatzis,V., Heilig,R., Compain,S., Samson,D.,
Vincent,C., Levi-Acobas,F., Cruaud,C., Le Merrer,M., Mathieu,M.,
Konig,R., Vigneron,J., Weissenbach,J., Petit,C. and Weil,D.
TITLE Clustering of mutations responsible for branchio-oto-renal (BOR)
syndrome in the eyes absent homologous region (eyaHR) of EYA1
JOURNAL Hum. Mol. Genet. 6 (13), 2247-2255 (1997)
PUBMED 9361030
REFERENCE 8 (residues 1 to 592)
AUTHORS Abdelhak,S., Kalatzis,V., Heilig,R., Compain,S., Samson,D.,
Vincent,C., Weil,D., Cruaud,C., Sahly,I., Leibovici,M.,
Bitner-Glindzicz,M., Francis,M., Lacombe,D., Vigneron,J.,
Charachon,R., Boven,K., Bedbeder,P., Van Regemorter,N.,
Weissenbach,J. and Petit,C.
TITLE A human homologue of the Drosophila eyes absent gene underlies
branchio-oto-renal (BOR) syndrome and identifies a novel gene
family
JOURNAL Nat. Genet. 15 (2), 157-164 (1997)
PUBMED 9020840
REFERENCE 9 (residues 1 to 592)
AUTHORS Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
and Morton,C.C.
TITLE Isolation of novel and known genes from a human fetal cochlear cDNA
library using subtractive hybridization and differential screening
JOURNAL Genomics 23 (1), 42-50 (1994)
PUBMED 7829101
REFERENCE 10 (residues 1 to 592)
AUTHORS Stoppa-Lyonnet,D., Carter,P.E., Meo,T. and Tosi,M.
TITLE Clusters of intragenic Alu repeats predispose the human C1
inhibitor locus to deleterious rearrangements
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (4), 1551-1555 (1990)
PUBMED 2154751
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AJ000098.1, AC016465.8, AC022858.8 and BI497179.1.
On Apr 4, 2002 this sequence version replaced gi:4503619.
Summary: This gene encodes a member of the eyes absent (EYA) family
of proteins. The encoded protein may play a role in the developing
kidney, branchial arches, eye, and ear. Mutations of this gene have
been associated with branchiootorenal dysplasia syndrome,
branchiootic syndrome, and sporadic cases of congenital cataracts
and ocular anterior segment anomalies. A similar protein in mice
can act as a transcriptional activator. Four transcript variants
encoding three distinct isoforms have been identified for this
gene. [provided by RefSeq].
Transcript Variant: This variant (3), also known as EYA1C, differs
in the 5' UTR compared to variant 2 and represents the longest
transcript. It encodes the longest isoform b.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..592
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q13.3"
Protein 1..592
/product="eyes absent 1 isoform b"
/EC_number="3.1.3.48"
/note="Eyes absent, Drosophila, homolog of, 1;
Melnick-Fraser syndrome"
/calculated_mol_wt=64463
CDS 1..592
/gene="EYA1"
/gene_synonym="BOP"
/gene_synonym="BOR"
/gene_synonym="MGC141875"
/coded_by="NM_000503.4:641..2419"
/note="isoform b is encoded by transcript variant 3"
/db_xref="CCDS:CCDS34906.1"
/db_xref="GeneID:2138"
/db_xref="HGNC:3519"
/db_xref="HPRD:03388"
/db_xref="MIM:601653"
ORIGIN
1 memqdltsph srlsgssesp sgpklgnshi nsnsmtpngt evktepmsss etasttadgs
61 lnnfsgsaig sssfsprpth qfsppqiyps nrpyphilpt pssqtmaayg qtqfttgmqq
121 atayatypqp gqpygissyg alwagikteg glsqsqspgq tgflsygtsf stpqpgqapy
181 syqmqgssft tssgiytgnn sltnssgfns sqqdypsyps fgqgqyaqyy nsspypahym
241 tssntspttp stnatyqlqe ppsgitsqav tdptaeysti hspstpikds dsdrlrrgsd
301 gksrgrgrrn nnpspppdsd lervfiwdld etiivfhsll tgsyanrygr dpptsvslgl
361 rmeemifnla dthlffndle ecdqvhiddv ssddngqdls tynfgtdgfp aaatsanlcl
421 atgvrggvdw mrklafryrr vkeiyntykn nvggllgpak reawlqlrae iealtdswlt
481 lalkalslih srtncvnilv tttqlipala kvllyglgiv fpieniysat kigkescfer
541 iiqrfgrkvv yvvigdgvee eqgakkhamp fwrisshsdl malhhalele yl
//