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2024-04-19 07:20:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_178429 594 bp mRNA linear PRI 18-APR-2013
DEFINITION Homo sapiens late cornified envelope 2C (LCE2C), mRNA.
ACCESSION NM_178429
VERSION NM_178429.3 GI:444299644
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 594)
AUTHORS Jackson,B., Tilli,C.M., Hardman,M.J., Avilion,A.A., MacLeod,M.C.,
Ashcroft,G.S. and Byrne,C.
TITLE Late cornified envelope family in differentiating
epithelia--response to calcium and ultraviolet irradiation
JOURNAL J. Invest. Dermatol. 124 (5), 1062-1070 (2005)
PUBMED 15854049
REMARK GeneRIF: paper describing nomenclature changes and expression in
range of tissues and in response to UV
REFERENCE 2 (bases 1 to 594)
AUTHORS Marshall,D., Hardman,M.J., Nield,K.M. and Byrne,C.
TITLE Differentially expressed late constituents of the epidermal
cornified envelope
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (23), 13031-13036 (2001)
PUBMED 11698679
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BC125197.1 and AL139247.12.
On Jan 30, 2013 this sequence version replaced gi:57242770.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
##Evidence-Data-START##
Transcript exon combination :: BC125197.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-428 BC125197.1 1-428
429-594 AL139247.12 75896-76061
FEATURES Location/Qualifiers
source 1..594
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q21.3"
gene 1..594
/gene="LCE2C"
/gene_synonym="LEP11"
/note="late cornified envelope 2C"
/db_xref="GeneID:353140"
/db_xref="HGNC:29460"
/db_xref="HPRD:13972"
/db_xref="MIM:612611"
exon 1..14
/gene="LCE2C"
/gene_synonym="LEP11"
/inference="alignment:Splign:1.39.8"
exon 15..594
/gene="LCE2C"
/gene_synonym="LEP11"
/inference="alignment:Splign:1.39.8"
misc_feature 21..23
/gene="LCE2C"
/gene_synonym="LEP11"
/note="upstream in-frame stop codon"
variation 34
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="g"
/replace="t"
/db_xref="dbSNP:144044997"
variation 35
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="g"
/db_xref="dbSNP:12073860"
CDS 36..368
/gene="LCE2C"
/gene_synonym="LEP11"
/note="late envelope protein 11"
/codon_start=1
/product="late cornified envelope protein 2C"
/protein_id="NP_848516.1"
/db_xref="GI:30410047"
/db_xref="CCDS:CCDS1019.1"
/db_xref="GeneID:353140"
/db_xref="HGNC:29460"
/db_xref="HPRD:13972"
/db_xref="MIM:612611"
/translation="
MSCQQNQQQCQPPPKCPPKCTPKCPPKCPPKCPPQCPAPCFPAVSSCCGPSSGSCCGPSSGGCCSSGAGGCSLSHHRPRLFHRRRHQSPDCCESEPSGGSGCCHSSGGCC
"
variation 59
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="g"
/db_xref="dbSNP:375637333"
variation 65
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="t"
/db_xref="dbSNP:149738089"
variation 68
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/db_xref="dbSNP:370080975"
variation 71
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="t"
/db_xref="dbSNP:199844975"
variation 92
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:200214001"
variation 125
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:4119578"
variation 131
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/db_xref="dbSNP:4119577"
variation 137
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="t"
/db_xref="dbSNP:4119576"
variation 138
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="g"
/db_xref="dbSNP:143679302"
variation 143
/gene="LCE2C"
/gene_synonym="LEP11"
/replace=""
/replace="c"
/db_xref="dbSNP:373855134"
variation 163
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="c"
/db_xref="dbSNP:142388668"
variation 187
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="g"
/replace="t"
/db_xref="dbSNP:76844826"
variation 194
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="g"
/replace="t"
/db_xref="dbSNP:146579685"
variation 195
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/db_xref="dbSNP:74477310"
variation 221
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="t"
/db_xref="dbSNP:150478080"
variation 229
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:200818973"
variation 250
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="g"
/db_xref="dbSNP:41305072"
variation 251
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="c"
/db_xref="dbSNP:12074920"
variation 268
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="c"
/db_xref="dbSNP:146169820"
variation 271
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/db_xref="dbSNP:199701090"
variation 283
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/db_xref="dbSNP:12064325"
variation 302
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="t"
/db_xref="dbSNP:139907033"
variation 303
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/db_xref="dbSNP:201281384"
variation 305
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="c"
/db_xref="dbSNP:373454559"
variation 310
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="g"
/db_xref="dbSNP:200801335"
variation 321
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="c"
/db_xref="dbSNP:199924989"
variation 327
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="g"
/replace="t"
/db_xref="dbSNP:139225775"
variation 331
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="g"
/db_xref="dbSNP:371378636"
variation 332
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="c"
/db_xref="dbSNP:149959514"
variation 348
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/db_xref="dbSNP:373720601"
variation 392
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="g"
/replace="t"
/db_xref="dbSNP:374512784"
variation 397
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="g"
/db_xref="dbSNP:377446144"
variation 403
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="t"
/db_xref="dbSNP:368735730"
variation 407
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="g"
/db_xref="dbSNP:370841976"
variation 417
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="t"
/db_xref="dbSNP:375022910"
variation 418
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/db_xref="dbSNP:199779088"
variation 476
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="t"
/db_xref="dbSNP:74685751"
variation 486
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="t"
/db_xref="dbSNP:181063713"
variation 489
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/db_xref="dbSNP:146311590"
variation 494
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="c"
/replace="t"
/db_xref="dbSNP:12060809"
variation 594
/gene="LCE2C"
/gene_synonym="LEP11"
/replace="a"
/replace="g"
/db_xref="dbSNP:139502253"
ORIGIN
tgcgtgtgaccagggttgactaaactcctgccagcatgtcttgccagcaaaaccagcagcagtgccagccccctcccaagtgtcctcccaagtgtaccccaaaatgtccacctaagtgtccccccaaatgcccaccacagtgcccagctccatgtttccctgcagtctcttcttgctgtggtcccagctctgggagctgctgtggtcccagctctgggggctgctgcagctctggggctggtggctgctccctgagccaccacaggccccgtctcttccaccggcgccggcaccagagccccgactgctgtgagagtgaaccttctgggggctctggctgctgccacagctctgggggctgctgctgacctgggctacagaagagctcttgggactgaatggccaagaacctgctacggcctgatggatactctttccacttcctctcattccattcattggttggcagagaccacaaagactcatggggctttcctggaagaacttcgtgcttgatgtaacaccccaattgcaagtcttcttttcctcctttacctcatgttataataaagctctgatctctgactcactaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:353140 -> Biological process: GO:0031424 [keratinization] evidence: IEA
by
@meso_cacase at
DBCLS
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