LCE1D_HUMAN
ID LCE1D_HUMAN Reviewed; 114 AA.
AC Q5T752;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Late cornified envelope protein 1D;
DE AltName: Full=Late envelope protein 4;
GN Name=LCE1D; Synonyms=LEP4;
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 NOMENCLATURE, TISSUE SPECIFICITY, AND INDUCTION BY 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 Q5T752; P05187: ALPP; NbExp=3; IntAct=EBI-11741311, EBI-1211484;
CC Q5T752; A2BDD9: AMOT; NbExp=3; IntAct=EBI-11741311, EBI-17286414;
CC Q5T752; Q8NEC5: CATSPER1; NbExp=3; IntAct=EBI-11741311, EBI-744545;
CC Q5T752; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-11741311, EBI-3867333;
CC Q5T752; P28799: GRN; NbExp=3; IntAct=EBI-11741311, EBI-747754;
CC Q5T752; P49639: HOXA1; NbExp=5; IntAct=EBI-11741311, EBI-740785;
CC Q5T752; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-11741311, EBI-11749135;
CC Q5T752; Q9BYS1: KRTAP1-5; NbExp=5; IntAct=EBI-11741311, EBI-11741292;
CC Q5T752; P60412: KRTAP10-11; NbExp=3; IntAct=EBI-11741311, EBI-10217483;
CC Q5T752; P60370: KRTAP10-5; NbExp=3; IntAct=EBI-11741311, EBI-10172150;
CC Q5T752; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-11741311, EBI-10172290;
CC Q5T752; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-11741311, EBI-10171774;
CC Q5T752; P60411: KRTAP10-9; NbExp=5; IntAct=EBI-11741311, EBI-10172052;
CC Q5T752; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-11741311, EBI-14065470;
CC Q5T752; A0A087WY89: KRTAP4-1; NbExp=3; IntAct=EBI-11741311, EBI-11957260;
CC Q5T752; Q9BYQ6: KRTAP4-11; NbExp=5; IntAct=EBI-11741311, EBI-10302392;
CC Q5T752; Q9BQ66: KRTAP4-12; NbExp=3; IntAct=EBI-11741311, EBI-739863;
CC Q5T752; Q9BYR5: KRTAP4-2; NbExp=6; IntAct=EBI-11741311, EBI-10172511;
CC Q5T752; Q9BYR3: KRTAP4-4; NbExp=3; IntAct=EBI-11741311, EBI-11958132;
CC Q5T752; Q9BYR2: KRTAP4-5; NbExp=3; IntAct=EBI-11741311, EBI-11993254;
CC Q5T752; Q6L8G4: KRTAP5-11; NbExp=7; IntAct=EBI-11741311, EBI-11993296;
CC Q5T752; Q701N4: KRTAP5-2; NbExp=3; IntAct=EBI-11741311, EBI-11958178;
CC Q5T752; Q6L8H2: KRTAP5-3; NbExp=3; IntAct=EBI-11741311, EBI-11974251;
CC Q5T752; Q6L8H1: KRTAP5-4; NbExp=3; IntAct=EBI-11741311, EBI-11963072;
CC Q5T752; Q6L8G9: KRTAP5-6; NbExp=6; IntAct=EBI-11741311, EBI-10250562;
CC Q5T752; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-11741311, EBI-3958099;
CC Q5T752; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-11741311, EBI-1044640;
CC Q5T752; Q9BYQ3: KRTAP9-3; NbExp=4; IntAct=EBI-11741311, EBI-1043191;
CC Q5T752; Q9BYQ0: KRTAP9-8; NbExp=3; IntAct=EBI-11741311, EBI-11958364;
CC Q5T752; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-11741311, EBI-10245913;
CC Q5T752; Q5T751: LCE1C; NbExp=3; IntAct=EBI-11741311, EBI-12224199;
CC Q5T752; Q5T752: LCE1D; NbExp=3; IntAct=EBI-11741311, EBI-11741311;
CC Q5T752; Q5T753: LCE1E; NbExp=3; IntAct=EBI-11741311, EBI-11955335;
CC Q5T752; Q5T754: LCE1F; NbExp=3; IntAct=EBI-11741311, EBI-11958008;
CC Q5T752; Q5TA79: LCE2A; NbExp=6; IntAct=EBI-11741311, EBI-10246607;
CC Q5T752; O14633: LCE2B; NbExp=3; IntAct=EBI-11741311, EBI-11478468;
CC Q5T752; Q5TA81: LCE2C; NbExp=3; IntAct=EBI-11741311, EBI-11973993;
CC Q5T752; Q5TA82: LCE2D; NbExp=3; IntAct=EBI-11741311, EBI-10246750;
CC Q5T752; Q5TA77: LCE3B; NbExp=3; IntAct=EBI-11741311, EBI-11974495;
CC Q5T752; Q8N5G2: MACO1; NbExp=3; IntAct=EBI-11741311, EBI-2683507;
CC Q5T752; Q99750: MDFI; NbExp=3; IntAct=EBI-11741311, EBI-724076;
CC Q5T752; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11741311, EBI-16439278;
CC Q5T752; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-11741311, EBI-22310682;
CC Q5T752; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-11741311, EBI-741158;
CC Q5T752; Q92824-2: PCSK5; NbExp=6; IntAct=EBI-11741311, EBI-11956269;
CC Q5T752; Q8N2W9: PIAS4; NbExp=3; IntAct=EBI-11741311, EBI-473160;
CC Q5T752; Q9Y4B4: RAD54L2; NbExp=3; IntAct=EBI-11741311, EBI-948156;
CC Q5T752; Q9UGC6: RGS17; NbExp=5; IntAct=EBI-11741311, EBI-3918154;
CC Q5T752; P78317: RNF4; NbExp=3; IntAct=EBI-11741311, EBI-2340927;
CC Q5T752; Q14162: SCARF1; NbExp=3; IntAct=EBI-11741311, EBI-12056025;
CC Q5T752; P49901: SMCP; NbExp=3; IntAct=EBI-11741311, EBI-750494;
CC Q5T752; O43609: SPRY1; NbExp=3; IntAct=EBI-11741311, EBI-3866665;
CC Q5T752; P01137: TGFB1; NbExp=3; IntAct=EBI-11741311, EBI-779636;
CC Q5T752; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-11741311, EBI-5235829;
CC Q5T752; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-11741311, EBI-10180829;
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 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; AL353779; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS1025.1; -.
DR RefSeq; NP_848129.1; NM_178352.2.
DR AlphaFoldDB; Q5T752; -.
DR BioGRID; 131641; 63.
DR IntAct; Q5T752; 55.
DR STRING; 9606.ENSP00000316737; -.
DR BioMuta; LCE1D; -.
DR DMDM; 74745322; -.
DR MassIVE; Q5T752; -.
DR PaxDb; Q5T752; -.
DR PeptideAtlas; Q5T752; -.
DR PRIDE; Q5T752; -.
DR ProteomicsDB; 64639; -.
DR DNASU; 353134; -.
DR Ensembl; ENST00000326233.7; ENSP00000316737.6; ENSG00000172155.10.
DR GeneID; 353134; -.
DR KEGG; hsa:353134; -.
DR MANE-Select; ENST00000326233.7; ENSP00000316737.6; NM_178352.3; NP_848129.1.
DR UCSC; uc009wnp.3; human.
DR CTD; 353134; -.
DR GeneCards; LCE1D; -.
DR HGNC; HGNC:29465; LCE1D.
DR HPA; ENSG00000172155; Tissue enriched (skin).
DR MIM; 612606; gene.
DR neXtProt; NX_Q5T752; -.
DR OpenTargets; ENSG00000172155; -.
DR PharmGKB; PA134906518; -.
DR VEuPathDB; HostDB:ENSG00000172155; -.
DR GeneTree; ENSGT00950000183301; -.
DR HOGENOM; CLU_152038_0_0_1; -.
DR OMA; RNDCCDS; -.
DR PathwayCommons; Q5T752; -.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; Q5T752; -.
DR BioGRID-ORCS; 353134; 11 hits in 630 CRISPR screens.
DR GenomeRNAi; 353134; -.
DR Pharos; Q5T752; Tbio.
DR PRO; PR:Q5T752; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T752; protein.
DR Bgee; ENSG00000172155; Expressed in skin of leg and 43 other tissues.
DR GO; GO:0001533; C:cornified envelope; IDA:MGI.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:MGI.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0071277; P:cellular response to calcium ion; IDA:MGI.
DR GO; GO:0050890; P:cognition; IMP:UniProtKB.
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..114
FT /note="Late cornified envelope protein 1D"
FT /id="PRO_0000235327"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 75..114
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 88..114
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 59
FT /note="N -> S (in dbSNP:rs7527180)"
FT /id="VAR_060065"
FT VARIANT 78
FT /note="R -> H (in dbSNP:rs41268490)"
FT /id="VAR_062116"
SQ SEQUENCE 114 AA; 11230 MW; 809EE3813C377446 CRC64;
MSCQQSQQQC QPPPKCTPKC TPKCPAPKCP PKCPPVSSCC SVSSGGCCGS SSGGGCGSNS
GGCCSSGGGG CCLSHHRRHR SHRRRPQSSD CCSQPSGGSS CCGGGSSQHS GGCC