2025-05-09 19:31:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020834 3741 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA. ACCESSION NM_020834 NM_001010849 XM_033391 VERSION NM_020834.2 GI:158631176 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 3741) AUTHORS McGregor,T.L., Misri,A., Bartlett,J., Orabona,G., Friedman,R.D., Sexton,D., Maheshwari,S. and Morgan,T.M. TITLE Consanguinity mapping of congenital heart disease in a South Indian population JOURNAL PLoS ONE 5 (4), E10286 (2010) PUBMED 20422016 REMARK GeneRIF: no single gene of major effect could be convincingly identified in a sample of Indian CHD cases born to consanguineous parents. The possibility that noncoding regions of HOMEZ may harbor recessive mutations leading to CHD could not be excluded. Publication Status: Online-Only REFERENCE 2 (bases 1 to 3741) AUTHORS Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E., Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P. TITLE Large-scale characterization of HeLa cell nuclear phosphoproteins JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004) PUBMED 15302935 REFERENCE 3 (bases 1 to 3741) AUTHORS Bayarsaihan,D., Enkhmandakh,B., Makeyev,A., Greally,J.M., Leckman,J.F. and Ruddle,F.H. TITLE Homez, a homeobox leucine zipper gene specific to the vertebrate lineage JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (18), 10358-10363 (2003) PUBMED 12925734 REFERENCE 4 (bases 1 to 3741) AUTHORS Ceulemans,H., Stalmans,W. and Bollen,M. TITLE Regulator-driven functional diversification of protein phosphatase-1 in eukaryotic evolution JOURNAL Bioessays 24 (4), 371-381 (2002) PUBMED 11948623 REMARK Review article COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DC398645.1, AF463523.1 and BC045733.1. On Oct 24, 2007 this sequence version replaced gi:29789117. ##Evidence-Data-START## Transcript exon combination :: AF463523.1, AB037864.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025084 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-76 DC398645.1 18-93 77-315 AF463523.1 1-239 316-1051 BC045733.1 162-897 1052-1755 AF463523.1 976-1679 1756-1905 BC045733.1 1601-1750 1906-3741 AF463523.1 1827-3662 FEATURES Location/Qualifiers source 1..3741 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q11.2" gene 1..3741 /gene="HOMEZ" /gene_synonym="KIAA1443" /note="homeobox and leucine zipper encoding" /db_xref="GeneID:57594" /db_xref="HGNC:20164" /db_xref="MIM:608119" exon 1..188 /gene="HOMEZ" /gene_synonym="KIAA1443" /inference="alignment:Splign:1.39.8" CDS 149..1801 /gene="HOMEZ" /gene_synonym="KIAA1443" /note="homeodomain leucine zipper-containing factor" /codon_start=1 /product="homeobox and leucine zipper protein Homez" /protein_id="NP_065885.2" /db_xref="GI:158631177" /db_xref="CCDS:CCDS45085.1" /db_xref="GeneID:57594" /db_xref="HGNC:20164" /db_xref="MIM:608119" /translation="
MVRGWEPPPGLDCAISEGHKSEGTMPPNKEASGLSSSPAGLICLPPISEELQLVWTQAAQTSELDSNEHLLKTFSYFPYPSLADIALLCLRYGLQMEKVKTWFMAQRLRCGISWSSEEIEETRARVVYRRDQLHFKSLLSFTHHAGRPPEEVPPPPVPAPEQVGIGIGPPTLSKPTQTKGLKVEPEEPSQMPPLPQSHQKLKESLMTPGSGAFPYQSDFWQHLQSSGLSKEQAGRGPNQSHGIGTASWNHSTTVPQPQARDKPPPIALIASSCKEESASSVTPSSSSTSSSFQVLANGATAASKPLQPLGCVPQSVSPSEQALPPHLEPAWPQGLRHNSVPGRVGPTEYLSPDMQRQRKTKRKTKEQLAILKSFFLQCQWARREDYQKLEQITGLPRPEIIQWFGDTRYALKHGQLKWFRDNAVPGAPSFQDPAIPTPPPSTRSLNERAETPPLPIPPPPPDIQPLERYWAAHQQLRETDIPQLSQASRLSTQQVLDWFDSRLPQPAEVVVCLDEEEEEEEEELPEDDEEEEEEEEEDDDDDDDDVIIQD
" misc_feature 341..490 /gene="HOMEZ" /gene_synonym="KIAA1443" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(383..385,401..403,440..442,446..451,458..463, 467..475,479..484) /gene="HOMEZ" /gene_synonym="KIAA1443" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(449..451,458..463,470..472) /gene="HOMEZ" /gene_synonym="KIAA1443" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" misc_feature 1220..1237 /gene="HOMEZ" /gene_synonym="KIAA1443" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8IX15.2); Region: Nuclear localization signal (Potential)" misc_feature 1244..1393 /gene="HOMEZ" /gene_synonym="KIAA1443" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(1286..1288,1304..1306,1343..1345,1349..1354, 1361..1366,1370..1378,1382..1387) /gene="HOMEZ" /gene_synonym="KIAA1443" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(1352..1354,1361..1366,1373..1375) /gene="HOMEZ" /gene_synonym="KIAA1443" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" misc_feature <1547..1675 /gene="HOMEZ" /gene_synonym="KIAA1443" /note="Homeodomain leucine-zipper encoding, Homez; Region: Homez; pfam11569" /db_xref="CDD:152005" exon 189..3741 /gene="HOMEZ" /gene_synonym="KIAA1443" /inference="alignment:Splign:1.39.8" variation 1653 /gene="HOMEZ" /gene_synonym="KIAA1443" /replace="a" /replace="g" /db_xref="dbSNP:1055061" variation 1762 /gene="HOMEZ" /gene_synonym="KIAA1443" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:3208861" STS 2556..2645 /gene="HOMEZ" /gene_synonym="KIAA1443" /standard_name="D8S2279" /db_xref="UniSTS:473907" ORIGIN
ctgggtagaccggcgcgctcccggggacggtggggggggcagtcccggtttcggccatcgctggggtgggctcggagcggccgcaccgggcagcaaccccactcccactcggaggccccctgccctctcccccacttccccccggcccatggtgcgaggctgggagccgccgcccgggctggactgcgctatctctgaagggcacaaatcagaaggcaccatgcctcctaataaagaggccagcggtctcagtagttcaccagcggggctcatctgcctccctccaatctctgaggagctacagcttgtgtggacgcaagcagcccagaccagtgagctagacagcaatgaacacctgctcaaaaccttcagctactttccctatcccagcctagcagacattgcccttctctgcctacgttatgggttgcagatggagaaagtcaagacttggtttatggcccagcgcctccgctgtggtattagctggtcatctgaagaaatagaagagactcgagcccgagtagtctaccgtcgggaccaactccatttcaaatcccttctctcttttactcatcatgcgggacggcccccagaggaggtgcctcctcctccagtgccagctccagagcaagttggtattggaataggtcctccaactcttagcaagcctacccagacgaaaggattgaaggtagagcctgaggagccctctcagatgccaccactgccacagagtcaccagaaattaaaggagtccctgatgacacctggcagtggagcattcccctaccaatcagatttttggcaacatcttcaaagcagtggcctctcaaaggagcaggcaggcaggggtcccaaccagtcacatggcataggtactgcttcctggaaccactccacaaccgtcccccagccacaagctcgggataaacccccaccaattgcattaattgccagtagttgtaaggaggagtcagcatctagtgttactccctcttcttcctctacctcttcttctttccaggtactggctaatggagctactgccgcctctaaacccctccagccactaggctgtgtcccacagtcagtgtcacccagtgaacaggcattacccccacatctggaaccagcctggccccaagggctacggcataactcagtaccaggtagagttggccccacagagtacctttccccagatatgcaacgccagcgaaagaccaagcgcaaaaccaaagagcagctggctatccttaaatccttttttttacagtgccagtgggcacggcgtgaggattaccaaaagttagaacagatcactggtttacctcggcctgagatcattcagtggtttggtgacacacgctatgccttgaagcatgggcaactaaagtggtttcgggacaacgcagtacctggtgcccctagtttccaagacccagcaattcctacaccaccaccatcaacccgctccttgaacgaaagggctgagacaccacctctgccgatccctccacccccaccggatatacaacccttggagaggtactgggcagcccaccaacagctacgggaaactgatatccctcaattgagtcaggcatcaaggcttagcacccagcaggtgctggattggtttgactctcgattacctcagccagctgaggtggtagtttgtctagatgaagaagaggaagaggaggaggaagaactgccagaagatgatgaggaagaggaggaggaggaggaggaagatgatgatgatgatgatgatgatgtgatcatacaagactgagtggggagctgggggaggggaggtctgttactgaaagatgaaccaacttagtaactgtttaaacaaagaaaccacatttttaaaattaccttgtggcagagaactaaaaagctttgtgttcttcagggtgggtggcagggggatatagtgagggtggaccagggagaatgaccatagggcactaagtaaggctgggattggatcagcagaaatccaaccctctaaccttagggtagggagtgctaaggatctggggaaaccatgggctgggaagctgctcttgctctcctcgtgtctgctgtttttttcccttggtgtactatacagaggccagatgttggcaccacctctccaggaggattggaaaggaggagtaaaggattctgatttgattgatgattccagtgcatccccaatcccaccatcttacctggaatataaggctgccttgtaccccttttctgagcacaagtctgtgcgtaatgcaactgactctcttacttttttcttagtaactgatcatttcctagacaaccaagattctcaataagtcccagtctcatcacaaatattaatatttccttttcctcataccaacttgactatgtttcacccgcttcatgactaaatcacaggtggcagaatttttcagttcttttttttttttttgaggtggagtcttgctctgtcgcccaggctgtagtgcaatggcgcaatctcagctcactgcaagctccgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgggactacaggcacctgccaccacacccggctacttttttatatttttagtagagacgggtttcatcatgttagccaggatggtcttgatctcctgacctcatgatccgcccaccttggcctcccaaagtgctgggattataggcatgagccaccgtgcccggctattttcagttcttatgctgtgaccactttgccttgtagctttttctatctttccaaaatcctcactctgttcattgtttgtctcagggaaaatcttcccccaccgagcttgtaaaaaactttaataattgggtggagaataatttagaatggatatttattggaggtggtaattagggaagatgtccttttaaacagtagaattgtgttacaaaggggtgaaagagagggaatagtttctccttgttgaagggcagtgaaggtaggtttcaggtttggttttacaaacctgttaactacctcctgtccagcttgacagagactaatttttcatctttttgctgtcaatttgtttccagaaaagagacttttccctctcttgataggatctgtcttagggacagagggaccatcgtctttaagtgaattaattattgatgttttagaatggttttcatcagttgggatcagctatatggcaaataggtatcatcaatgagttaaccatctaaaaataaaagagtggaagccctaaaatgctagaataataataaaaaggccaaaaataaaattgtttctctctcaaccactttgccactcctatggtttagggattaatggaaccaaatccattaacattctaactcagcatacttttaacttattgtttggaggggcaggacttattgaggtaaattaaaagaacaaaaactgtaaaaaggaagtagttcagcatctatcgccagccaggttgtttctcagccatcaaatgataatgactaaaatttctgaggcttcaggagtaacagagatacaacagtcttggaggtaactccatttgctacaggacaggcccttgcctaaaagagaaggtatctagaaatgcctttaaaataaattcagagtaccagaaagggtatggggatcctagttcagatacaagatcattcccaagacctaatttatttctggcagatgcctgctattttctg
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:57594 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:57594 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:57594 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:57594 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:57594 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
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