SCEL_HUMAN
ID SCEL_HUMAN Reviewed; 688 AA.
AC O95171; B7Z797; F5H651; Q53H61; Q5W0S8; Q5W0S9; Q86X00;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 16-DEC-2008, sequence version 2.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Sciellin;
GN Name=SCEL;
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 [MRNA] (ISOFORM 2), AND PROTEIN SEQUENCE OF 463-477 AND
RP 655-670.
RC TISSUE=Foreskin;
RX PubMed=9813070; DOI=10.1074/jbc.273.47.31547;
RA Champliaud M.-F., Burgeson R.E., Jin W., Baden H.P., Olson P.F.;
RT "cDNA cloning and characterization of sciellin, a LIM domain protein of the
RT keratinocyte cornified envelope.";
RL J. Biol. Chem. 273:31547-31554(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Esophagus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [5]
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 (APR-2008) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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).
CC -!- FUNCTION: May function in the assembly or regulation of proteins in the
CC cornified envelope. The LIM domain may be involved in homotypic or
CC heterotypic associations and may function to localize sciellin to the
CC cornified envelope.
CC -!- INTERACTION:
CC O95171; P51116: FXR2; NbExp=4; IntAct=EBI-7543896, EBI-740459;
CC O95171; Q08379: GOLGA2; NbExp=4; IntAct=EBI-7543896, EBI-618309;
CC O95171; Q9BVG8: KIFC3; NbExp=3; IntAct=EBI-7543896, EBI-2125614;
CC O95171; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-7543896, EBI-742948;
CC O95171; Q13287: NMI; NbExp=7; IntAct=EBI-7543896, EBI-372942;
CC O95171; Q9BZW7: TSGA10; NbExp=3; IntAct=EBI-7543896, EBI-744794;
CC O95171-2; Q13287: NMI; NbExp=3; IntAct=EBI-12056699, EBI-372942;
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Membrane. Note=May become cross-linked
CC to membrane proteins by transglutaminase.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O95171-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95171-2; Sequence=VSP_035980;
CC Name=3;
CC IsoId=O95171-3; Sequence=VSP_045288, VSP_045289;
CC -!- TISSUE SPECIFICITY: Highly expressed in esophagus. It is also expressed
CC in keratinocytes, amniotic tissue, foreskin stratum spinosum and
CC stratum granulosum, hair follicle and nail.
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DR EMBL; AF045941; AAC78461.1; -; mRNA.
DR EMBL; AK301659; BAH13533.1; -; mRNA.
DR EMBL; AK222720; BAD96440.1; -; mRNA.
DR EMBL; AL137140; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471093; EAW80568.1; -; Genomic_DNA.
DR EMBL; CH471093; EAW80569.1; -; Genomic_DNA.
DR EMBL; BC047536; AAH47536.1; -; mRNA.
DR CCDS; CCDS53877.1; -. [O95171-3]
DR CCDS; CCDS9458.1; -. [O95171-2]
DR CCDS; CCDS9459.1; -. [O95171-1]
DR RefSeq; NP_001154178.1; NM_001160706.1. [O95171-3]
DR RefSeq; NP_003834.3; NM_003843.3. [O95171-2]
DR RefSeq; NP_659001.2; NM_144777.2. [O95171-1]
DR AlphaFoldDB; O95171; -.
DR BioGRID; 114324; 43.
DR IntAct; O95171; 17.
DR MINT; O95171; -.
DR STRING; 9606.ENSP00000302579; -.
DR GlyConnect; 1724; 5 N-Linked glycans (1 site).
DR GlyGen; O95171; 2 sites, 4 N-linked glycans (1 site), 1 O-linked glycan (1 site).
DR iPTMnet; O95171; -.
DR PhosphoSitePlus; O95171; -.
DR BioMuta; SCEL; -.
DR EPD; O95171; -.
DR jPOST; O95171; -.
DR MassIVE; O95171; -.
DR MaxQB; O95171; -.
DR PaxDb; O95171; -.
DR PeptideAtlas; O95171; -.
DR PRIDE; O95171; -.
DR ProteomicsDB; 27081; -.
DR ProteomicsDB; 50686; -. [O95171-1]
DR ProteomicsDB; 50687; -. [O95171-2]
DR Antibodypedia; 24603; 161 antibodies from 26 providers.
DR DNASU; 8796; -.
DR Ensembl; ENST00000349847.4; ENSP00000302579.5; ENSG00000136155.17. [O95171-1]
DR Ensembl; ENST00000377246.7; ENSP00000366454.3; ENSG00000136155.17. [O95171-2]
DR Ensembl; ENST00000535157.5; ENSP00000437895.1; ENSG00000136155.17. [O95171-3]
DR GeneID; 8796; -.
DR KEGG; hsa:8796; -.
DR MANE-Select; ENST00000349847.4; ENSP00000302579.5; NM_144777.3; NP_659001.2.
DR UCSC; uc001vki.4; human. [O95171-1]
DR CTD; 8796; -.
DR DisGeNET; 8796; -.
DR GeneCards; SCEL; -.
DR HGNC; HGNC:10573; SCEL.
DR HPA; ENSG00000136155; Tissue enhanced (esophagus, skin, vagina).
DR MIM; 604112; gene.
DR neXtProt; NX_O95171; -.
DR OpenTargets; ENSG00000136155; -.
DR PharmGKB; PA34986; -.
DR VEuPathDB; HostDB:ENSG00000136155; -.
DR eggNOG; KOG1704; Eukaryota.
DR GeneTree; ENSGT00530000063872; -.
DR HOGENOM; CLU_399516_0_0_1; -.
DR InParanoid; O95171; -.
DR OMA; WIYKQTI; -.
DR OrthoDB; 876581at2759; -.
DR PhylomeDB; O95171; -.
DR TreeFam; TF335114; -.
DR PathwayCommons; O95171; -.
DR SignaLink; O95171; -.
DR BioGRID-ORCS; 8796; 9 hits in 1062 CRISPR screens.
DR ChiTaRS; SCEL; human.
DR GeneWiki; SCEL_(gene); -.
DR GenomeRNAi; 8796; -.
DR Pharos; O95171; Tbio.
DR PRO; PR:O95171; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; O95171; protein.
DR Bgee; ENSG00000136155; Expressed in tongue squamous epithelium and 113 other tissues.
DR ExpressionAtlas; O95171; baseline and differential.
DR Genevisible; O95171; HS.
DR GO; GO:0001533; C:cornified envelope; TAS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:BHF-UCL.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0009792; P:embryo development ending in birth or egg hatching; ISS:UniProtKB.
DR GO; GO:0008544; P:epidermis development; ISS:UniProtKB.
DR GO; GO:0030216; P:keratinocyte differentiation; IDA:UniProtKB.
DR GO; GO:0090263; P:positive regulation of canonical Wnt signaling pathway; IMP:BHF-UCL.
DR GO; GO:0009612; P:response to mechanical stimulus; IEP:BHF-UCL.
DR InterPro; IPR001781; Znf_LIM.
DR SMART; SM00132; LIM; 1.
DR PROSITE; PS00478; LIM_DOMAIN_1; 1.
DR PROSITE; PS50023; LIM_DOMAIN_2; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Cytoplasm; Direct protein sequencing;
KW LIM domain; Membrane; Metal-binding; Phosphoprotein; Reference proteome;
KW Repeat; Zinc.
FT CHAIN 1..688
FT /note="Sciellin"
FT /id="PRO_0000075903"
FT REPEAT 251..266
FT /note="1"
FT REPEAT 267..286
FT /note="2"
FT REPEAT 287..306
FT /note="3"
FT REPEAT 307..326
FT /note="4"
FT REPEAT 327..346
FT /note="5"
FT REPEAT 347..366
FT /note="6"
FT REPEAT 367..386
FT /note="7"
FT REPEAT 387..406
FT /note="8"
FT REPEAT 407..426
FT /note="9"
FT REPEAT 427..446
FT /note="10"
FT REPEAT 447..465
FT /note="11"
FT REPEAT 466..484
FT /note="12"
FT REPEAT 485..504
FT /note="13"
FT REPEAT 505..523
FT /note="14"
FT REPEAT 524..543
FT /note="15"
FT REPEAT 544..563
FT /note="16"
FT DOMAIN 619..685
FT /note="LIM zinc-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT REGION 1..29
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 134..231
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 251..563
FT /note="16 X approximate tandem repeats"
FT REGION 340..373
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..27
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 134..158
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 341..373
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 83
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9EQG3"
FT MOD_RES 289
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EQG3"
FT MOD_RES 389
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EQG3"
FT VAR_SEQ 160..181
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045288"
FT VAR_SEQ 231..251
FT /note="RSQDLDNIVKVATSLQRSDKG -> S (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:9813070"
FT /id="VSP_035980"
FT VAR_SEQ 367..386
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045289"
FT VARIANT 336
FT /note="V -> L (in dbSNP:rs34164479)"
FT /id="VAR_047920"
FT VARIANT 386
FT /note="R -> K (in dbSNP:rs2274016)"
FT /id="VAR_047921"
FT VARIANT 480
FT /note="K -> R (in dbSNP:rs8002725)"
FT /id="VAR_047922"
FT CONFLICT 37
FT /note="R -> G (in Ref. 2; BAH13533)"
FT /evidence="ECO:0000305"
FT CONFLICT 124
FT /note="M -> V (in Ref. 6; AAH47536)"
FT /evidence="ECO:0000305"
FT CONFLICT 201
FT /note="P -> T (in Ref. 6; AAH47536)"
FT /evidence="ECO:0000305"
FT CONFLICT 337
FT /note="N -> D (in Ref. 1; AAC78461)"
FT /evidence="ECO:0000305"
FT CONFLICT 340
FT /note="M -> T (in Ref. 1; AAC78461)"
FT /evidence="ECO:0000305"
FT CONFLICT 680
FT /note="S -> P (in Ref. 3; BAD96440)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 688 AA; 77552 MW; B97F62DD560B57C3 CRC64;
MSNVTLRKMS PTGNEMKSTT QGTTRKQQDF HEVNKRRTFL QDNSWIKKRP EEEKDENYGR
VVLNRHNSHD ALDRKVNERD VPKATISRYS SDDTLDRISD RNDAAKTYKA NTLDNQLTNR
SMSMFRSLEV TKLQPGGSLN ANTSNTIAST SATTPVKKKR QSWFPPPPPG YNASSSTGTR
RREPGVHPPI PPKPSSPVSS PNQLRQDNRQ IHPPKPGVYT ETNRSAERNI RSQDLDNIVK
VATSLQRSDK GEELDNLIKM NKSLNRNQGL DSLFRANPKV EEREKRAKSL ESLIYMSTRT
DKDGKGIQSL GSPIKVNQRT DKNEKGRQNL ESVAKVNARM NKTSRRSEDL DNATEVNPKG
HENTTGKKDL DGLIKVDPET NKNITRGQSL DNLIKVTPEV KRSNQGSKDL NNFIKVYPGT
EKSTEGGQSL DSLIKVTPER NRTNQGNQDL ENLIKVIPSA NKSSEQGLDE HINVSPKAVK
NTDGKQDLDK LIKVNPEIFT NNQRNQDLAN LIKVNPAVIR NNQSQDLDNL IKVKPSALRN
TNRDQNLENL IEVNSHVSEN KNGSSNTGAK QAGPQDTVVY TRTYVENSKS PKDGYQENIS
GKYIQTVYST SDRSVIERDM CTYCRKPLGV ETKMILDELQ ICCHSTCFKC EICKQPLENL
QAGDSIWIYR QTIHCEPCYS KIMAKWIP
