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2024-04-20 11:28:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_178569 900 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens chromosome 5 open reading frame 38 (C5orf38), mRNA.
ACCESSION NM_178569
VERSION NM_178569.2 GI:31340723
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 900)
AUTHORS Wu,Q., Tommerup,N., Ming Wang,S. and Hansen,L.
TITLE A novel primate specific gene, CEI, is located in the homeobox gene
IRXA2 promoter in Homo sapiens
JOURNAL Gene 371 (2), 167-173 (2006)
PUBMED 16515847
REMARK GeneRIF: CEI may play an important role in the evolution of higher
primates in coordination with the IRX genes
COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final
NCBI review. The reference sequence was derived from AY249325.1.
On Jun 3, 2003 this sequence version replaced gi:30425548.
##Evidence-Data-START##
Transcript exon combination :: AY249325.1, BC101634.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025087, ERS025092 [ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..900
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5p15.33"
gene 1..900
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/note="chromosome 5 open reading frame 38"
/db_xref="GeneID:153571"
/db_xref="HGNC:24226"
/db_xref="HPRD:16706"
/db_xref="MIM:610522"
exon 1..317
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/inference="alignment:Splign:1.39.8"
variation 41
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:112071464"
STS 81..574
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/db_xref="UniSTS:485867"
variation 111
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="g"
/replace="t"
/db_xref="dbSNP:370508047"
CDS 118..534
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/note="coordinated expression to IRX2; IRX2 neighbor;
protein CEI; coordinated expression to IRXA2 protein;
coordinated expression to IRXA2 homeobox"
/codon_start=1
/product="protein CEI precursor"
/protein_id="NP_848664.1"
/db_xref="GI:30425549"
/db_xref="CCDS:CCDS34131.1"
/db_xref="GeneID:153571"
/db_xref="HGNC:24226"
/db_xref="HPRD:16706"
/db_xref="MIM:610522"
/translation="
MVAPAARVFLRAVRAALTSTVPDLLCLLARGSPRGLASGRLPLAVHSAQHGPGSGAPWLRIARRALRFVLSKHWGDDCYLTNRLWQDLKPPSHVENGQELRLAPPVQWALQVQGNQLQTAVLCLRMAPPEPAGSRQRI
"
sig_peptide 118..222
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/note="putative"
mat_peptide 223..531
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/product="Protein CEI"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q86SI9.1)"
variation 132
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="g"
/db_xref="dbSNP:185444055"
variation 137
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:190299244"
variation 140
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="g"
/replace="t"
/db_xref="dbSNP:78468774"
variation 153
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="g"
/db_xref="dbSNP:80151430"
variation 205
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="g"
/db_xref="dbSNP:371003626"
variation 213
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:370718224"
variation 233
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="g"
/db_xref="dbSNP:201333560"
variation 242
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:139504466"
variation 249
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="g"
/db_xref="dbSNP:181498861"
variation 250
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="g"
/db_xref="dbSNP:149685344"
variation 251
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:144504566"
variation 255
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:148445271"
variation 290
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="g"
/db_xref="dbSNP:371072941"
variation 295
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="c"
/db_xref="dbSNP:76774578"
variation 309
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="g"
/db_xref="dbSNP:147641225"
exon 318..450
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/inference="alignment:Splign:1.39.8"
variation 320
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:370175635"
variation 384
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="g"
/replace="t"
/db_xref="dbSNP:144599502"
variation 387
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:151254882"
variation 398
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="t"
/db_xref="dbSNP:61745543"
variation 406
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="g"
/db_xref="dbSNP:112684585"
variation 408
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="g"
/db_xref="dbSNP:201098902"
variation 427
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:200225150"
exon 451..521
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/inference="alignment:Splign:1.39.8"
variation 453
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="g"
/db_xref="dbSNP:368202268"
variation 465
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="g"
/db_xref="dbSNP:140455889"
variation 496
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="g"
/db_xref="dbSNP:150419625"
variation 498
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:199779338"
variation 515
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="g"
/replace="t"
/db_xref="dbSNP:138224052"
variation 516
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:201678854"
exon 522..890
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/inference="alignment:Splign:1.39.8"
variation 528
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="g"
/db_xref="dbSNP:141325154"
variation 545
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="g"
/db_xref="dbSNP:202119069"
variation 546
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="g"
/db_xref="dbSNP:191923417"
variation 558
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="a"
/replace="g"
/db_xref="dbSNP:202075633"
variation 569
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:372474059"
variation 570
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="g"
/db_xref="dbSNP:76652220"
variation 864
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
/replace="c"
/replace="t"
/db_xref="dbSNP:62333235"
polyA_signal 865..870
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
polyA_site 891
/gene="C5orf38"
/gene_synonym="CEI; IRX2NB"
ORIGIN
cgcggtcaggccaggccgggtccaattaggggactcacagcctgccccgctgtgcaccccgaggaggcccggcccctgtgtccaatccggaagtcgcagggaagtggggaggtcaggatggtggcgcccgcggctcgggtcttcctccgggcagtgcgcgcggctctcacttccacggtcccggacctgctctgcctcctggcccgaggctccccgcgtggcctcgcgtctggtcgcctacccctcgcggtccactccgcccagcatggacctggatccggggcgccttggttgcgaattgccaggagggccctgagatttgtgttgtcaaaacactggggggatgattgttacctgacaaaccgcctctggcaggacctgaagcctcccagtcacgtcgagaacgggcaggagctcaggttggcgccgccggtgcagtgggcattacaggtgcaagggaaccagttgcaaactgcagtgctgtgcttgaggatggctcctcctgagccggcaggctcccgccaaagaatttagaacgagtctacgtggacacgcaagtttcagcgagcggggatttcctgcgaggccgagcgcgaggaacagccggccccggaggctcgggctcggggtctccccggggacgcggccgactgagaaggccggggcgctcgccgggcgcggcgccgtcctccgtgtcgcggggacggaaggaggcgacgcaggccaggagtcgtgcgcgcgggcggcgagggggcgctgtggcccgtgtctgccggcccgagtcccggcaacggtgggcgcgacccacctcctcccccggcggcttaattcggggaagaagaaaaaacggcatcgaggcatttcaataaaacctaagcgactcctgatccaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:153571 -> Cellular component: GO:0005576 [extracellular region] evidence: IEA
by
@meso_cacase at
DBCLS
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