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2024-04-16 15:31:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001130968 2110 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens zinc finger protein 385A (ZNF385A), transcript variant
2, mRNA.
ACCESSION NM_001130968
VERSION NM_001130968.1 GI:195972904
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 2110)
AUTHORS Oshikawa,M., Tsutsui,C., Ikegami,T., Fuchida,Y., Matsubara,M.,
Toyama,S., Usami,R., Ohtoko,K. and Kato,S.
TITLE Full-length transcriptome analysis of human retina-derived cell
lines ARPE-19 and Y79 using the vector-capping method
JOURNAL Invest. Ophthalmol. Vis. Sci. 52 (9), 6662-6670 (2011)
PUBMED 21697133
REMARK Publication Status: Online-Only
REFERENCE 2 (bases 1 to 2110)
AUTHORS Das,S., Raj,L., Zhao,B., Kimura,Y., Bernstein,A., Aaronson,S.A. and
Lee,S.W.
TITLE Hzf Determines cell survival upon genotoxic stress by modulating
p53 transactivation
JOURNAL Cell 130 (4), 624-637 (2007)
PUBMED 17719541
REFERENCE 3 (bases 1 to 2110)
AUTHORS Sharma,S., Dimasi,D., Higginson,K. and Della,N.G.
TITLE RZF, a zinc-finger protein in the photoreceptors of human retina
JOURNAL Gene 342 (2), 219-229 (2004)
PUBMED 15527981
REMARK GeneRIF: Results suggest that RZF is a shuttling regulatory protein
expressed in photoreceptors of the human retina that may be
involved in mRNA or protein regulation of photoreceptor-specific
genes and therefore have role in retinal disease mechanisms.
REFERENCE 4 (bases 1 to 2110)
AUTHORS Kimura,Y., Hart,A., Hirashima,M., Wang,C., Holmyard,D., Pittman,J.,
Pang,X.L., Jackson,C.W. and Bernstein,A.
TITLE Zinc finger protein, Hzf, is required for megakaryocyte development
and hemostasis
JOURNAL J. Exp. Med. 195 (7), 941-952 (2002)
PUBMED 11927637
REFERENCE 5 (bases 1 to 2110)
AUTHORS Hidaka,M., Caruana,G., Stanford,W.L., Sam,M., Correll,P.H. and
Bernstein,A.
TITLE Gene trapping of two novel genes, Hzf and Hhl, expressed in
hematopoietic cells
JOURNAL Mech. Dev. 90 (1), 3-15 (2000)
PUBMED 10585558
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DB116264.1, AK024404.1 and AF304052.1.
Summary: Zinc finger proteins, such as ZNF385A, are regulatory
proteins that act as transcription factors, bind single- or
double-stranded RNA, or interact with other proteins (Sharma et
al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008].
Transcript Variant: This variant (2) lacks an alternate in-frame
exon compared to variant 1. The resulting isoform (b) has the same
N- and C-termini but is shorter compared to isoform a.
##Evidence-Data-START##
Transcript exon combination :: AK024404.1, CR457327.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-476 DB116264.1 1-476
477-1033 AK024404.1 459-1015
1034-2110 AF304052.1 1345-2421
FEATURES Location/Qualifiers
source 1..2110
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q13.13"
gene 1..2110
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/note="zinc finger protein 385A"
/db_xref="GeneID:25946"
/db_xref="HGNC:17521"
/db_xref="MIM:609124"
exon 1..65
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/inference="alignment:Splign:1.39.8"
CDS 56..973
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/note="isoform b is encoded by transcript variant 2; zinc
finger protein 385; retinal zinc finger protein;
hematopoietic zinc finger protein"
/codon_start=1
/product="zinc finger protein 385A isoform b"
/protein_id="NP_001124440.1"
/db_xref="GI:195972905"
/db_xref="CCDS:CCDS44910.1"
/db_xref="GeneID:25946"
/db_xref="HGNC:17521"
/db_xref="MIM:609124"
/translation="
MILGSLSRAGPLPLLRQPPIMQPPLDLKQILPFPLEPAPTLGLFSNYSTMDPVQKAVLSHTFGGPLLKTKRPVISCNICQIRFNSQSQAEAHYKGNRHARRVKGIEAAKTRGREPGVREPGDPAPPGSTPTNGDGVAPRPGTKHKTILEARSGLGPIKAYPRLGPPTPGEPEAPAQDRTFHCEICNVKVNSEVQLKQHISSRRHRDGVAGKPNPLLSRHKKSRGAGELAGTLTFSKELPKSLAGGLLPSPLAVAAVMAAAAGSPLSLRPAPAAPLLQGPPITHPLLHPAPGPIRTAHGPILFSPY
"
misc_feature 281..349
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/note="Zinc-finger of C2H2 type; Region: zf-met;
pfam12874"
/db_xref="CDD:205121"
misc_feature 593..667
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/note="Zinc-finger of C2H2 type; Region: zf-met;
pfam12874"
/db_xref="CDD:205121"
exon 66..202
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/inference="alignment:Splign:1.39.8"
exon 203..313
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/inference="alignment:Splign:1.39.8"
exon 314..476
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/inference="alignment:Splign:1.39.8"
variation 421
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2887875"
exon 477..646
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/inference="alignment:Splign:1.39.8"
exon 647..742
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/inference="alignment:Splign:1.39.8"
exon 743..2093
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/inference="alignment:Splign:1.39.8"
variation 1091
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/replace=""
/replace="c"
/db_xref="dbSNP:3215379"
STS 1862..2061
/gene="ZNF385A"
/gene_synonym="HZF; RZF; ZFP385; ZNF385"
/standard_name="RH158"
/db_xref="UniSTS:9346"
ORIGIN
cagaacggcccccgggacagagcgacgcggaaccccgggcgcctgggtccccagcatgatcctcggcagcctgagccgggcagggcccctgcctctgctacggcagcccccgatcatgcagcccccactggacctcaagcagatcctgcccttcccactcgagccagcccctacccttggcctcttcagcaactacagcaccatggaccctgtgcagaaggctgtgctctcccacacttttgggggacccttgctcaagaccaagcggcccgtcatttcctgtaatatctgtcaaatccgcttcaattctcagagccaggctgaggcgcactacaaaggtaatcgccacgcccgacgagtcaaaggcattgaggctgccaagaccagaggcagggagcctggcgtccgagaacctggagacccagctcccccaggcagcaccccaacaaatggggatggtgtagcaccccgtccaggtactaagcacaagacaattctggaggcccgaagtgggctcgggcccatcaaagcttaccctcggctggggcctcccaccccgggggaaccagaggctcctgcccaggaccgaactttccactgtgagatctgcaatgtcaaggtcaactcggaggtccaactgaaacagcacatctccagccggcggcaccgagacggcgtggccgggaagcccaacccactactgagccgtcacaagaagtctaggggcgccggggagctggcgggcacgctgactttctccaaggagctgcccaagtccctggcgggcggcctgctccccagccccctggcggtggctgcagtgatggcagcggcagcaggctcgccgctgtccctgcgcccggctccagccgcacctcttctccagggaccgccgatcactcaccctctgcttcacccggcccccggacccatccgaactgcgcacggacccatcctcttctccccgtactgacctcaaccctgaacccctcccattcaactccccacctccagccgggacccaggcgtccgggctcccagcccgcccctcctcccggcactccctaaatgatctctccttccccccccccaccccgagatacggggttccaggaaaggggaggggtagcgggggaggggggcttcagaagggggggaacaccccagatctcagggaaccccgccccctgcctttccctctcccctagaaaagggggggccgtctcacccccgagcccccttggagacaccccccctcccaaaagccatgtccatccagcccttccccccaaacctagcacaaaacggggttcacaagccatggtcggggtccgggggggacagaaatggattttcttggcaataagcggactctgggactccggctccctaccccaaactgaagcgcttccgtgaacacccccgtcctccgtagggggaggggagcaggcgggatcctgggtccctcataagcactttggttttaccgcctgcaacctcactgtgcccgccccgcaccatgccctagccccaggtctagccgggcccattgcagggggcagcacttgggggcatctccggcacttgggtgggaccaaggagatgccaccatagacctttccctcgccttcttcctccctagtccgggttccattcttttcaccagcacccatcgcccaaggggtaccgaggggggcaaggggtgtccagtccaagcccacccccgcctcgccttccgcaaaactgtgagcaaaaagcaatagaagcctcgcccccgcccttccccttcgcaggattcgccgagtctgtagcctccccgatccaagttcctagacctcatggctgtcccctcccaccagtcacctccactgcacaactcgggcgggggtgtgacacctctcccccacccccgactccgtggtttccgtatcgtcaacccttcagccgccgacccgggaggggtctggcctacactggtcttccccttcccatcaactctttctgcttgacaatgtagcaacccaggccccccacccacggtcctcccctttttcctctccctgacaataaagtctgaatttgttctgccctccaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:25946 -> Molecular function: GO:0002039 [p53 binding] evidence: IPI
GeneID:25946 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:25946 -> Molecular function: GO:0003730 [mRNA 3'-UTR binding] evidence: ISS
GeneID:25946 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:25946 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:25946 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
GeneID:25946 -> Biological process: GO:0006915 [apoptotic process] evidence: ISS
GeneID:25946 -> Biological process: GO:0006974 [response to DNA damage stimulus] evidence: ISS
GeneID:25946 -> Biological process: GO:0010609 [mRNA localization resulting in posttranscriptional regulation of gene expression] evidence: ISS
GeneID:25946 -> Biological process: GO:0035855 [megakaryocyte development] evidence: ISS
GeneID:25946 -> Biological process: GO:0045600 [positive regulation of fat cell differentiation] evidence: ISS
GeneID:25946 -> Biological process: GO:1902164 [positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator] evidence: IMP
GeneID:25946 -> Biological process: GO:1902166 [negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] evidence: IMP
GeneID:25946 -> Biological process: GO:2000765 [regulation of cytoplasmic translation] evidence: ISS
GeneID:25946 -> Cellular component: GO:0000790 [nuclear chromatin] evidence: IDA
GeneID:25946 -> Cellular component: GO:0005730 [nucleolus] evidence: IEA
GeneID:25946 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
GeneID:25946 -> Cellular component: GO:0030425 [dendrite] evidence: ISS
GeneID:25946 -> Cellular component: GO:0043025 [neuronal cell body] evidence: ISS
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