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2024-04-20 02:00:53, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_178356 388 bp mRNA linear PRI 13-APR-2013
DEFINITION Homo sapiens late cornified envelope 4A (LCE4A), mRNA.
ACCESSION NM_178356 XM_003846614
VERSION NM_178356.2 GI:156523273
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 388)
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 388)
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
BC113448.1.
On or before Jul 26, 2012 this sequence version replaced
gi:397137914, gi:30387641.
##Evidence-Data-START##
Transcript exon combination :: BC113448.1 [ECO:0000332]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..388
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q21.3"
gene 1..388
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/note="late cornified envelope 4A"
/db_xref="GeneID:199834"
/db_xref="HGNC:16613"
/db_xref="HPRD:17264"
/db_xref="MIM:612618"
exon 1..388
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/inference="alignment:Splign:1.39.8"
STS 1..388
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/db_xref="UniSTS:483538"
variation 15
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:144247009"
variation 21
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:1332496"
CDS 30..329
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/note="small proline rich-like (epidermal differentiation
complex) 4A; late envelope protein 8; small
proline-rich-like epidermal differentiation complex
protein 4A"
/codon_start=1
/product="late cornified envelope protein 4A"
/protein_id="NP_848133.1"
/db_xref="GI:30387642"
/db_xref="CCDS:CCDS1022.1"
/db_xref="GeneID:199834"
/db_xref="HGNC:16613"
/db_xref="HPRD:17264"
/db_xref="MIM:612618"
/translation="
MSCQQNQQQCQPPPKCPIPKYPPKCPSKCASSCPPPISSCCGSSSGGCGCCSSEGGGCCLSHHRHHRSHCHRPKSSNCYGSGSGQQSGGSGCCSGGGCC
"
variation 31
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="a"
/replace="t"
/db_xref="dbSNP:151125573"
variation 38
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="a"
/replace="c"
/db_xref="dbSNP:147765240"
variation 79
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:200910232"
variation 81
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="a"
/replace="g"
/db_xref="dbSNP:41268472"
variation 89
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="g"
/db_xref="dbSNP:370378908"
variation 129
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:199807622"
variation 133
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:200796580"
variation 148
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="g"
/replace="t"
/db_xref="dbSNP:371078921"
variation 151
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="a"
/replace="g"
/db_xref="dbSNP:138799465"
variation 158..159
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace=""
/replace="agctctgggggctgctgt"
/db_xref="dbSNP:6143428"
variation 158
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:200890315"
variation 159..160
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace=""
/replace="agctctgggggctgctgt"
/db_xref="dbSNP:33921874"
variation 167
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="g"
/db_xref="dbSNP:200223098"
variation 171..176
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace=""
/replace="tgtggt"
/db_xref="dbSNP:113617356"
variation 172..173
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace=""
/replace="ctgtagctctgggggctg"
/db_xref="dbSNP:11269814"
variation 173..174
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace=""
/replace="ctgtagctctgggggctg"
/db_xref="dbSNP:34855202"
variation 173
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:74871420"
variation 174
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="g"
/replace="t"
/db_xref="dbSNP:79268808"
variation 190
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="a"
/replace="g"
/db_xref="dbSNP:118176527"
variation 197
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="a"
/replace="t"
/db_xref="dbSNP:141839549"
variation 200
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:117220394"
variation 218
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="g"
/db_xref="dbSNP:375783060"
variation 226
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="a"
/replace="g"
/db_xref="dbSNP:199914704"
variation 247
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:185961871"
variation 278
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:375297518"
variation 313
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="g"
/replace="t"
/db_xref="dbSNP:10888510"
variation 323
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:4845465"
variation 334
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="g"
/db_xref="dbSNP:376871904"
variation 363
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="g"
/db_xref="dbSNP:73011196"
variation 366
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="a"
/replace="g"
/db_xref="dbSNP:141892122"
variation 374
/gene="LCE4A"
/gene_synonym="LEP8; SPRL4A"
/replace="c"
/replace="t"
/db_xref="dbSNP:376970394"
ORIGIN
tcattcaggtttatcgaaattccaccaagatgtcctgccagcagaaccaacagcagtgccagccccctcccaagtgtcctatccccaagtatcccccaaaatgtccctcaaagtgtgcatcctcatgcccacctccaatctcttcctgctgtggctccagctctgggggctgtggttgctgcagctctgagggaggtggctgctgcctgagccaccacagacaccataggtcccactgccacagacccaagagctccaattgctatggcagtggcagtggccagcagtctgggggttctggctgctgctctggagggggctgttgctgacctggaccaggagcagcaccaaaggaattagtgggcgaaggacccattgcagcctggtg
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:199834 -> Biological process: GO:0031424 [keratinization] evidence: IEA
by
@meso_cacase at
DBCLS
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