LCE5A_HUMAN
ID LCE5A_HUMAN Reviewed; 118 AA.
AC Q5TCM9;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 100.
DE RecName: Full=Late cornified envelope protein 5A;
DE AltName: Full=Late envelope protein 18;
DE AltName: Full=Small proline-rich-like epidermal differentiation complex protein 5A;
GN Name=LCE5A; Synonyms=LEP18, SPRL5A;
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, AND TISSUE SPECIFICITY.
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 Q5TCM9; O43184-4: ADAM12; NbExp=3; IntAct=EBI-11955689, EBI-12006944;
CC Q5TCM9; P05187: ALPP; NbExp=3; IntAct=EBI-11955689, EBI-1211484;
CC Q5TCM9; Q9UKJ5: CHIC2; NbExp=3; IntAct=EBI-11955689, EBI-741528;
CC Q5TCM9; Q9H2X0: CHRD; NbExp=3; IntAct=EBI-11955689, EBI-947551;
CC Q5TCM9; Q02930-3: CREB5; NbExp=3; IntAct=EBI-11955689, EBI-10192698;
CC Q5TCM9; Q08AG9: CYP21A2; NbExp=3; IntAct=EBI-11955689, EBI-14156412;
CC Q5TCM9; A8MQ03: CYSRT1; NbExp=6; IntAct=EBI-11955689, EBI-3867333;
CC Q5TCM9; P23142-4: FBLN1; NbExp=3; IntAct=EBI-11955689, EBI-11956479;
CC Q5TCM9; P49639: HOXA1; NbExp=8; IntAct=EBI-11955689, EBI-740785;
CC Q5TCM9; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-11955689, EBI-11959885;
CC Q5TCM9; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-11955689, EBI-11749135;
CC Q5TCM9; Q9BYS1: KRTAP1-5; NbExp=3; IntAct=EBI-11955689, EBI-11741292;
CC Q5TCM9; P60370: KRTAP10-5; NbExp=3; IntAct=EBI-11955689, EBI-10172150;
CC Q5TCM9; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-11955689, EBI-10172290;
CC Q5TCM9; P60410: KRTAP10-8; NbExp=5; IntAct=EBI-11955689, EBI-10171774;
CC Q5TCM9; P60411: KRTAP10-9; NbExp=4; IntAct=EBI-11955689, EBI-10172052;
CC Q5TCM9; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-11955689, EBI-11953334;
CC Q5TCM9; P60329: KRTAP12-4; NbExp=3; IntAct=EBI-11955689, EBI-10176396;
CC Q5TCM9; Q3LI59: KRTAP21-2; NbExp=3; IntAct=EBI-11955689, EBI-18395721;
CC Q5TCM9; Q9BYR8: KRTAP3-1; NbExp=3; IntAct=EBI-11955689, EBI-9996449;
CC Q5TCM9; A0A087WY89: KRTAP4-1; NbExp=3; IntAct=EBI-11955689, EBI-11957260;
CC Q5TCM9; Q9BYQ6: KRTAP4-11; NbExp=6; IntAct=EBI-11955689, EBI-10302392;
CC Q5TCM9; Q9BQ66: KRTAP4-12; NbExp=9; IntAct=EBI-11955689, EBI-739863;
CC Q5TCM9; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-11955689, EBI-10172511;
CC Q5TCM9; Q9BYR3: KRTAP4-4; NbExp=6; IntAct=EBI-11955689, EBI-11958132;
CC Q5TCM9; Q9BYR2: KRTAP4-5; NbExp=3; IntAct=EBI-11955689, EBI-11993254;
CC Q5TCM9; Q6L8G4: KRTAP5-11; NbExp=3; IntAct=EBI-11955689, EBI-11993296;
CC Q5TCM9; Q701N4: KRTAP5-2; NbExp=5; IntAct=EBI-11955689, EBI-11958178;
CC Q5TCM9; Q6L8H2: KRTAP5-3; NbExp=4; IntAct=EBI-11955689, EBI-11974251;
CC Q5TCM9; Q6L8H1: KRTAP5-4; NbExp=4; IntAct=EBI-11955689, EBI-11963072;
CC Q5TCM9; Q6L8G9: KRTAP5-6; NbExp=5; IntAct=EBI-11955689, EBI-10250562;
CC Q5TCM9; P26371: KRTAP5-9; NbExp=6; IntAct=EBI-11955689, EBI-3958099;
CC Q5TCM9; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-11955689, EBI-11962084;
CC Q5TCM9; Q9BYQ4: KRTAP9-2; NbExp=8; IntAct=EBI-11955689, EBI-1044640;
CC Q5TCM9; Q9BYQ3: KRTAP9-3; NbExp=6; IntAct=EBI-11955689, EBI-1043191;
CC Q5TCM9; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-11955689, EBI-11962058;
CC Q5TCM9; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-11955689, EBI-10245913;
CC Q5TCM9; Q5T751: LCE1C; NbExp=3; IntAct=EBI-11955689, EBI-12224199;
CC Q5TCM9; Q5T753: LCE1E; NbExp=3; IntAct=EBI-11955689, EBI-11955335;
CC Q5TCM9; Q5T754: LCE1F; NbExp=3; IntAct=EBI-11955689, EBI-11958008;
CC Q5TCM9; O14633: LCE2B; NbExp=3; IntAct=EBI-11955689, EBI-11478468;
CC Q5TCM9; Q5TA81: LCE2C; NbExp=6; IntAct=EBI-11955689, EBI-11973993;
CC Q5TCM9; Q5TA78: LCE4A; NbExp=3; IntAct=EBI-11955689, EBI-10246358;
CC Q5TCM9; Q5TCM9: LCE5A; NbExp=4; IntAct=EBI-11955689, EBI-11955689;
CC Q5TCM9; Q92692-2: NECTIN2; NbExp=3; IntAct=EBI-11955689, EBI-6979889;
CC Q5TCM9; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-11955689, EBI-22310682;
CC Q5TCM9; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-11955689, EBI-741158;
CC Q5TCM9; P61970: NUTF2; NbExp=3; IntAct=EBI-11955689, EBI-591778;
CC Q5TCM9; Q9NRY7: PLSCR2; NbExp=3; IntAct=EBI-11955689, EBI-3937430;
CC Q5TCM9; Q9NRY6: PLSCR3; NbExp=6; IntAct=EBI-11955689, EBI-750734;
CC Q5TCM9; Q9NRQ2: PLSCR4; NbExp=3; IntAct=EBI-11955689, EBI-769257;
CC Q5TCM9; Q12837: POU4F2; NbExp=3; IntAct=EBI-11955689, EBI-17236143;
CC Q5TCM9; Q9UGC6: RGS17; NbExp=5; IntAct=EBI-11955689, EBI-3918154;
CC Q5TCM9; O76081-6: RGS20; NbExp=3; IntAct=EBI-11955689, EBI-10178530;
CC Q5TCM9; P78317: RNF4; NbExp=3; IntAct=EBI-11955689, EBI-2340927;
CC Q5TCM9; Q92504: SLC39A7; NbExp=3; IntAct=EBI-11955689, EBI-1051105;
CC Q5TCM9; P49901: SMCP; NbExp=3; IntAct=EBI-11955689, EBI-750494;
CC Q5TCM9; Q7Z698: SPRED2; NbExp=3; IntAct=EBI-11955689, EBI-7082156;
CC Q5TCM9; O43609: SPRY1; NbExp=3; IntAct=EBI-11955689, EBI-3866665;
CC Q5TCM9; Q8IWZ5: TRIM42; NbExp=5; IntAct=EBI-11955689, EBI-5235829;
CC Q5TCM9; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-11955689, EBI-10180829;
CC Q5TCM9; B2RUY7: VWC2L; NbExp=3; IntAct=EBI-11955689, EBI-11747707;
CC Q5TCM9; Q8N720: ZNF655; NbExp=3; IntAct=EBI-11955689, EBI-625509;
CC Q5TCM9; Q96EJ4; NbExp=3; IntAct=EBI-11955689, EBI-750454;
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. Expression is observed in the heart.
CC {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; AL135842; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS1011.1; -.
DR RefSeq; NP_848525.1; NM_178438.4.
DR AlphaFoldDB; Q5TCM9; -.
DR BioGRID; 129059; 68.
DR IntAct; Q5TCM9; 63.
DR STRING; 9606.ENSP00000333952; -.
DR BioMuta; LCE5A; -.
DR MassIVE; Q5TCM9; -.
DR PaxDb; Q5TCM9; -.
DR PeptideAtlas; Q5TCM9; -.
DR PRIDE; Q5TCM9; -.
DR DNASU; 254910; -.
DR Ensembl; ENST00000334269.3; ENSP00000333952.2; ENSG00000186207.5.
DR GeneID; 254910; -.
DR KEGG; hsa:254910; -.
DR MANE-Select; ENST00000334269.3; ENSP00000333952.2; NM_178438.5; NP_848525.1.
DR UCSC; uc001ezy.3; human.
DR CTD; 254910; -.
DR GeneCards; LCE5A; -.
DR HGNC; HGNC:16614; LCE5A.
DR HPA; ENSG00000186207; Tissue enriched (skin).
DR MIM; 612619; gene.
DR neXtProt; NX_Q5TCM9; -.
DR OpenTargets; ENSG00000186207; -.
DR PharmGKB; PA38173; -.
DR VEuPathDB; HostDB:ENSG00000186207; -.
DR eggNOG; ENOG502TEW5; Eukaryota.
DR GeneTree; ENSGT00940000161842; -.
DR HOGENOM; CLU_152038_0_0_1; -.
DR OMA; SSCCHTS; -.
DR PathwayCommons; Q5TCM9; -.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; Q5TCM9; -.
DR BioGRID-ORCS; 254910; 107 hits in 1043 CRISPR screens.
DR GenomeRNAi; 254910; -.
DR Pharos; Q5TCM9; Tdark.
DR PRO; PR:Q5TCM9; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5TCM9; protein.
DR Bgee; ENSG00000186207; Expressed in skin of leg and 59 other tissues.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
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..118
FT /note="Late cornified envelope protein 5A"
FT /id="PRO_0000235339"
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 72..118
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 14..32
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 80..111
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 40
FT /note="C -> Y (in dbSNP:rs2105117)"
FT /id="VAR_053487"
SQ SEQUENCE 118 AA; 11795 MW; FF37329A50FFB4E7 CRC64;
MSCQQSQQQC QPPPKCTPKC PPKCTPKCPP KCPPKCPPQC SAPCPPPVSS CCGSSSGGCC
SSEGGGCCLS HHRPRQSLRR RPQSSSCCGS GSGQQSGGSS CCHSSGGSGC CHSSGGCC