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2024-04-20 06:18:23, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014357 619 bp mRNA linear PRI 13-APR-2013
DEFINITION Homo sapiens late cornified envelope 2B (LCE2B), mRNA.
ACCESSION NM_014357
VERSION NM_014357.4 GI:223633914
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 619)
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 619)
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
REMARK GeneRIF: XP5 is part of a cluster of genes (LEP genes) whose
proteins incorporate into keratinocyte cornified envelopes. Strong
skin expression confirmed.
REFERENCE 3 (bases 1 to 619)
AUTHORS Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
Offenbacher,J., Danzig,J. and Ducar,M.
TITLE Creation of genome-wide protein expression libraries using random
activation of gene expression
JOURNAL Nat. Biotechnol. 19 (5), 440-445 (2001)
PUBMED 11329013
REFERENCE 4 (bases 1 to 619)
AUTHORS Zhao,X.P. and Elder,J.T.
TITLE Positional cloning of novel skin-specific genes from the human
epidermal differentiation complex
JOURNAL Genomics 45 (2), 250-258 (1997)
PUBMED 9344646
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF086289.1 and BG211939.1.
On Feb 14, 2009 this sequence version replaced gi:52352811.
Summary: This gene is one of the at least 20 genes expressed during
epidermal differentiation and located on chromosomal band 1q21.
This gene is involved in epidermal differentiation, and it is
expressed at high levels in normal and psoriatic skin, but not in
cultured keratinocytes or in any other tested cell types or
tissues. [provided by RefSeq, Jul 2008].
##Evidence-Data-START##
Transcript exon combination :: AF086289.1, BX117218.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-539 AF086289.1 1-539
540-594 BG211939.1 10-64 c
595-619 AF086289.1 595-619
FEATURES Location/Qualifiers
source 1..619
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q21"
gene 1..619
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/note="late cornified envelope 2B"
/db_xref="GeneID:26239"
/db_xref="HGNC:16610"
/db_xref="HPRD:17260"
/db_xref="MIM:612610"
exon 1..34
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/inference="alignment:Splign:1.39.8"
STS 5..437
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/db_xref="UniSTS:481796"
STS 10..526
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/db_xref="UniSTS:483178"
variation 24
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:144485021"
exon 35..612
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/inference="alignment:Splign:1.39.8"
misc_feature 37..39
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/note="upstream in-frame stop codon"
variation 54
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="g"
/db_xref="dbSNP:199946298"
CDS 55..387
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/note="small proline rich-like (epidermal differentiation
complex) 1B; late envelope protein 10; skin-specific
protein Xp5; small proline-rich-like epidermal
differentiation complex protein 1B"
/codon_start=1
/product="late cornified envelope protein 2B"
/protein_id="NP_055172.1"
/db_xref="GI:7657685"
/db_xref="CCDS:CCDS1020.1"
/db_xref="GeneID:26239"
/db_xref="HGNC:16610"
/db_xref="HPRD:17260"
/db_xref="MIM:612610"
/translation="
MSCQQNQQQCQPPPKCPPKCTPKCPPKCPPKCLPQCPAPCSPAVSSCCGPISGGCCGPSSGGCCNSGAGGCCLSHHRPRLFHRRRHQSPDCCESEPSGGSGCCHSSGGCC
"
variation 62
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:61730790"
variation 89
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:202053362"
variation 104
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200932671"
variation 118
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="g"
/db_xref="dbSNP:146504201"
variation 127
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:61730791"
variation 128
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:56398874"
variation 150
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:137870157"
variation 152
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200618167"
variation 155
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200341597"
variation 176
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:145964810"
variation 206
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="c"
/db_xref="dbSNP:3737859"
variation 214
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148459371"
variation 230
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="g"
/replace="t"
/db_xref="dbSNP:147648653"
variation 239
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:140189071"
variation 265
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372190895"
variation 269
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="g"
/db_xref="dbSNP:61730789"
variation 287
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="g"
/db_xref="dbSNP:183800359"
variation 300
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201693413"
variation 302
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:28391399"
variation 307
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:149198185"
variation 322
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:139034885"
variation 347
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:144630833"
variation 350
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace=""
/replace="g"
/db_xref="dbSNP:113915996"
variation 363
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:11205074"
variation 365
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:377079019"
variation 366
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201177469"
variation 373
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200218887"
variation 375
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="g"
/db_xref="dbSNP:199631987"
variation 380
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201525350"
variation 381
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:138022689"
variation 414
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200132128"
STS 437..555
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/standard_name="SHGC-57859"
/db_xref="UniSTS:33387"
variation 489
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:188466139"
variation 520
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:115230870"
variation 534
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:112575594"
variation 540
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:41310873"
variation 570
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="t"
/db_xref="dbSNP:73011158"
variation 572
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374303049"
variation 583
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:41308367"
polyA_signal 585..590
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
polyA_site 612
/gene="LCE2B"
/gene_synonym="LEP10; SPRL1B; XP5"
ORIGIN
cagggacgtgtctgtgctcctgcgtgtgaccagggttgactaaactctgccaggatgtcttgccagcaaaaccagcagcagtgccagccccctcccaagtgtcctcccaagtgtaccccaaaatgtccacctaagtgtccccctaaatgcctgccccagtgcccagctccatgttcccctgcagtctcttcttgctgtggtcccatctctgggggctgctgtggtcccagctctgggggctgctgcaactctggggctggtggctgctgcctgagccaccacaggccccgtctcttccaccggcgccggcaccagagccccgactgctgtgagagtgaaccttctgggggctctggctgctgccacagctctgggggctgctgctgacctgggctaagaagaactctttggacagaatgtttaagaacctcctacagcctgatgcttaaccctttccatttcctctcattccattcatgggtggacagcgaccacaaagactcatggggcttccctgggagaactttgcacttgatggagcacctcaattgcaggttttgttttcctcctttacctcatgttataataaagctctgatttctgactcacaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:26239 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
GeneID:26239 -> Biological process: GO:0008544 [epidermis development] evidence: NAS
GeneID:26239 -> Biological process: GO:0031424 [keratinization] evidence: IEA
GeneID:26239 -> Cellular component: GO:0005575 [cellular_component] evidence: ND
by
@meso_cacase at
DBCLS
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