LCE2D_HUMAN
ID LCE2D_HUMAN Reviewed; 110 AA.
AC Q5TA82; A1L4M8;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=Late cornified envelope protein 2D;
DE AltName: Full=Late envelope protein 12;
DE AltName: Full=Small proline-rich-like epidermal differentiation complex protein 1A;
GN Name=LCE2D; Synonyms=LEP12, SPRL1A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NOMENCLATURE, TISSUE SPECIFICITY, AND INDUCTION BY CALCIUM AND UVB.
RX PubMed=15854049; DOI=10.1111/j.0022-202x.2005.23699.x;
RA Jackson B., Tilli C.L., Hardman M., Avilion A., Macleod M., Ashcroft G.,
RA Byrne C.;
RT "Late cornified envelope family in differentiating epithelia -- response to
RT calcium and ultraviolet irradiation.";
RL J. Invest. Dermatol. 124:1062-1070(2005).
CC -!- FUNCTION: Precursors of the cornified envelope of the stratum corneum.
CC -!- INTERACTION:
CC Q5TA82; Q6UY14-3: ADAMTSL4; NbExp=6; IntAct=EBI-10246750, EBI-10173507;
CC Q5TA82; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10246750, EBI-3867333;
CC Q5TA82; O95967: EFEMP2; NbExp=3; IntAct=EBI-10246750, EBI-743414;
CC Q5TA82; O76003: GLRX3; NbExp=6; IntAct=EBI-10246750, EBI-374781;
CC Q5TA82; P28799: GRN; NbExp=3; IntAct=EBI-10246750, EBI-747754;
CC Q5TA82; Q96NT3-2: GUCD1; NbExp=3; IntAct=EBI-10246750, EBI-11978177;
CC Q5TA82; P49639: HOXA1; NbExp=8; IntAct=EBI-10246750, EBI-740785;
CC Q5TA82; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-10246750, EBI-11959885;
CC Q5TA82; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-10246750, EBI-11749135;
CC Q5TA82; Q9BYS1: KRTAP1-5; NbExp=3; IntAct=EBI-10246750, EBI-11741292;
CC Q5TA82; P60370: KRTAP10-5; NbExp=3; IntAct=EBI-10246750, EBI-10172150;
CC Q5TA82; P60371: KRTAP10-6; NbExp=3; IntAct=EBI-10246750, EBI-12012928;
CC Q5TA82; P60410: KRTAP10-8; NbExp=8; IntAct=EBI-10246750, EBI-10171774;
CC Q5TA82; P60411: KRTAP10-9; NbExp=6; IntAct=EBI-10246750, EBI-10172052;
CC Q5TA82; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-10246750, EBI-11953334;
CC Q5TA82; Q9BYP8: KRTAP17-1; NbExp=3; IntAct=EBI-10246750, EBI-11988175;
CC Q5TA82; Q3LHN2: KRTAP19-2; NbExp=3; IntAct=EBI-10246750, EBI-12196745;
CC Q5TA82; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-10246750, EBI-14065470;
CC Q5TA82; A0A087WY89: KRTAP4-1; NbExp=3; IntAct=EBI-10246750, EBI-11957260;
CC Q5TA82; Q9BQ66: KRTAP4-12; NbExp=6; IntAct=EBI-10246750, EBI-739863;
CC Q5TA82; Q9BYR5: KRTAP4-2; NbExp=6; IntAct=EBI-10246750, EBI-10172511;
CC Q5TA82; Q701N4: KRTAP5-2; NbExp=3; IntAct=EBI-10246750, EBI-11958178;
CC Q5TA82; Q6L8G9: KRTAP5-6; NbExp=3; IntAct=EBI-10246750, EBI-10250562;
CC Q5TA82; Q6L8G8: KRTAP5-7; NbExp=3; IntAct=EBI-10246750, EBI-11987425;
CC Q5TA82; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-10246750, EBI-3958099;
CC Q5TA82; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-10246750, EBI-11962084;
CC Q5TA82; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-10246750, EBI-1043191;
CC Q5TA82; Q9BYQ0: KRTAP9-8; NbExp=3; IntAct=EBI-10246750, EBI-11958364;
CC Q5TA82; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-10246750, EBI-11962058;
CC Q5TA82; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-10246750, EBI-10245913;
CC Q5TA82; Q5T751: LCE1C; NbExp=3; IntAct=EBI-10246750, EBI-12224199;
CC Q5TA82; Q5T752: LCE1D; NbExp=3; IntAct=EBI-10246750, EBI-11741311;
CC Q5TA82; Q5T754: LCE1F; NbExp=3; IntAct=EBI-10246750, EBI-11958008;
CC Q5TA82; O14633: LCE2B; NbExp=3; IntAct=EBI-10246750, EBI-11478468;
CC Q5TA82; Q5TA81: LCE2C; NbExp=3; IntAct=EBI-10246750, EBI-11973993;
CC Q5TA82; P61601: NCALD; NbExp=3; IntAct=EBI-10246750, EBI-749635;
CC Q5TA82; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-10246750, EBI-945833;
CC Q5TA82; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-10246750, EBI-22310682;
CC Q5TA82; Q92570: NR4A3; NbExp=3; IntAct=EBI-10246750, EBI-13644623;
CC Q5TA82; Q7Z417: NUFIP2; NbExp=3; IntAct=EBI-10246750, EBI-1210753;
CC Q5TA82; P32242: OTX1; NbExp=6; IntAct=EBI-10246750, EBI-740446;
CC Q5TA82; P07237: P4HB; NbExp=3; IntAct=EBI-10246750, EBI-395883;
CC Q5TA82; O15496: PLA2G10; NbExp=3; IntAct=EBI-10246750, EBI-726466;
CC Q5TA82; O15162: PLSCR1; NbExp=3; IntAct=EBI-10246750, EBI-740019;
CC Q5TA82; O76081: RGS20; NbExp=3; IntAct=EBI-10246750, EBI-1052678;
CC Q5TA82; P78317: RNF4; NbExp=3; IntAct=EBI-10246750, EBI-2340927;
CC Q5TA82; Q92504: SLC39A7; NbExp=3; IntAct=EBI-10246750, EBI-1051105;
CC Q5TA82; P49901: SMCP; NbExp=3; IntAct=EBI-10246750, EBI-750494;
CC Q5TA82; O43609: SPRY1; NbExp=7; IntAct=EBI-10246750, EBI-3866665;
CC Q5TA82; O43597: SPRY2; NbExp=3; IntAct=EBI-10246750, EBI-742487;
CC Q5TA82; G2XKQ0: SUMO1P1; NbExp=3; IntAct=EBI-10246750, EBI-10175576;
CC Q5TA82; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-10246750, EBI-5235829;
CC Q5TA82; O14817: TSPAN4; NbExp=3; IntAct=EBI-10246750, EBI-8652667;
CC Q5TA82; Q6EMK4: VASN; NbExp=3; IntAct=EBI-10246750, EBI-10249550;
CC Q5TA82; Q2TAL6: VWC2; NbExp=3; IntAct=EBI-10246750, EBI-11957238;
CC -!- TISSUE SPECIFICITY: Skin-specific. Expression was readily detected in
CC adult trunk skin, adult arm skin, fetal skin, penal skin, vulva,
CC esophagus and tongue. Not expressed in the cervix, rectum, lung, colon,
CC or placenta. {ECO:0000269|PubMed:15854049}.
CC -!- INDUCTION: By calcium and UVB. {ECO:0000269|PubMed:15854049}.
CC -!- MISCELLANEOUS: Belongs to the LCE cluster present on 1q21.
CC -!- SIMILARITY: Belongs to the LCE family. {ECO:0000305}.
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DR EMBL; AL139247; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW53374.1; -; Genomic_DNA.
DR EMBL; BC130603; AAI30604.1; -; mRNA.
DR EMBL; BC130605; AAI30606.1; -; mRNA.
DR CCDS; CCDS1018.1; -.
DR RefSeq; NP_848517.1; NM_178430.3.
DR AlphaFoldDB; Q5TA82; -.
DR BioGRID; 131647; 57.
DR IntAct; Q5TA82; 55.
DR STRING; 9606.ENSP00000357773; -.
DR BioMuta; LCE2D; -.
DR MassIVE; Q5TA82; -.
DR PaxDb; Q5TA82; -.
DR PeptideAtlas; Q5TA82; -.
DR PRIDE; Q5TA82; -.
DR DNASU; 353141; -.
DR Ensembl; ENST00000368784.2; ENSP00000357773.1; ENSG00000187223.4.
DR GeneID; 353141; -.
DR KEGG; hsa:353141; -.
DR MANE-Select; ENST00000368784.2; ENSP00000357773.1; NM_178430.4; NP_848517.1.
DR UCSC; uc001fag.5; human.
DR CTD; 353141; -.
DR GeneCards; LCE2D; -.
DR HGNC; HGNC:16518; LCE2D.
DR HPA; ENSG00000187223; Tissue enriched (skin).
DR MIM; 612612; gene.
DR neXtProt; NX_Q5TA82; -.
DR OpenTargets; ENSG00000187223; -.
DR PharmGKB; PA38157; -.
DR VEuPathDB; HostDB:ENSG00000187223; -.
DR eggNOG; ENOG502TDZA; Eukaryota.
DR GeneTree; ENSGT00940000161842; -.
DR HOGENOM; CLU_152038_0_0_1; -.
DR InParanoid; Q5TA82; -.
DR OMA; HDCCESE; -.
DR PathwayCommons; Q5TA82; -.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; Q5TA82; -.
DR BioGRID-ORCS; 353141; 201 hits in 981 CRISPR screens.
DR GenomeRNAi; 353141; -.
DR Pharos; Q5TA82; Tdark.
DR PRO; PR:Q5TA82; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5TA82; protein.
DR Bgee; ENSG00000187223; Expressed in skin of leg and 55 other tissues.
DR GO; GO:0031424; P:keratinization; IEA:UniProtKB-KW.
DR InterPro; IPR028205; LCE.
DR Pfam; PF14672; LCE; 2.
PE 1: Evidence at protein level;
KW Keratinization; Reference proteome.
FT CHAIN 1..110
FT /note="Late cornified envelope protein 2D"
FT /id="PRO_0000235332"
FT VARIANT 92
FT /note="C -> Y (in dbSNP:rs11205064)"
FT /id="VAR_053483"
SQ SEQUENCE 110 AA; 11180 MW; 7F21D02F50A63EED CRC64;
MSCQQNQQQC QPPPKCPPKC TPKCPPKCPP KCPPQCPAPC SPAVSSCCGP SSGSCCGPSS
GGCCSSGGGG CCLSHHRPRL FHRRRHQSPD CCESEPSGAS GCCHSSGGCC
