LAD1_HUMAN
ID LAD1_HUMAN Reviewed; 517 AA.
AC O00515; O95614; Q96GD8;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 23-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Ladinin-1;
DE Short=Lad-1;
DE AltName: Full=Linear IgA disease antigen;
DE Short=LADA;
GN Name=LAD1; Synonyms=LAD;
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], AND VARIANT PRO-155.
RC TISSUE=Skin;
RA Megahed M., Motoki K., McGrath J., LaForgia S., Uitto J.;
RT "Cloning of a gene (LAD) underlining linear IgA disease and encoding a
RT novel anchoring filament of the basement membrane zone.";
RL Submitted (DEC-1995) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT PRO-155.
RA Megahed M., LaForgia S., Motoki K., McGrath J.A., Uitto J.;
RT "Intron-exon organisation of ladinin gene, LAD.";
RL Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Trachea;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
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 [5]
RP CHARACTERIZATION.
RA Megahed M., Motoki K., McGrath J., LaForgia S., Uitto J.;
RT "Cloning of the human linear IgA disease gene (LADA) encoding a novel
RT anchoring filament protein, ladinin.";
RL J. Invest. Dermatol. 106:832-832(1996).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-38; SER-64; SER-121; SER-123
RP AND SER-394, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-38; SER-64; SER-356 AND
RP SER-485, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [9]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-424, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Colon carcinoma;
RX PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
CC -!- FUNCTION: Anchoring filament protein which is a component of the
CC basement membrane zone. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix, basement membrane {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD10849.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; U42408; AAB58817.1; -; mRNA.
DR EMBL; U58994; AAD10849.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AK313388; BAG36186.1; -; mRNA.
DR EMBL; BC009742; AAH09742.1; -; mRNA.
DR CCDS; CCDS1410.1; -.
DR RefSeq; NP_005549.2; NM_005558.3.
DR AlphaFoldDB; O00515; -.
DR BioGRID; 110095; 41.
DR IntAct; O00515; 9.
DR MINT; O00515; -.
DR STRING; 9606.ENSP00000375829; -.
DR iPTMnet; O00515; -.
DR PhosphoSitePlus; O00515; -.
DR BioMuta; LAD1; -.
DR EPD; O00515; -.
DR jPOST; O00515; -.
DR MassIVE; O00515; -.
DR MaxQB; O00515; -.
DR PaxDb; O00515; -.
DR PeptideAtlas; O00515; -.
DR PRIDE; O00515; -.
DR ProteomicsDB; 47951; -.
DR Antibodypedia; 20642; 159 antibodies from 25 providers.
DR DNASU; 3898; -.
DR Ensembl; ENST00000391967.7; ENSP00000375829.2; ENSG00000159166.15.
DR GeneID; 3898; -.
DR KEGG; hsa:3898; -.
DR MANE-Select; ENST00000391967.7; ENSP00000375829.2; NM_005558.4; NP_005549.2.
DR UCSC; uc001gwm.4; human.
DR CTD; 3898; -.
DR DisGeNET; 3898; -.
DR GeneCards; LAD1; -.
DR HGNC; HGNC:6472; LAD1.
DR HPA; ENSG00000159166; Tissue enhanced (esophagus, skin).
DR MIM; 602314; gene.
DR neXtProt; NX_O00515; -.
DR OpenTargets; ENSG00000159166; -.
DR PharmGKB; PA30263; -.
DR VEuPathDB; HostDB:ENSG00000159166; -.
DR eggNOG; ENOG502S2ZW; Eukaryota.
DR GeneTree; ENSGT00390000005256; -.
DR HOGENOM; CLU_038228_0_0_1; -.
DR InParanoid; O00515; -.
DR OrthoDB; 976869at2759; -.
DR PhylomeDB; O00515; -.
DR TreeFam; TF335896; -.
DR PathwayCommons; O00515; -.
DR SignaLink; O00515; -.
DR BioGRID-ORCS; 3898; 27 hits in 1066 CRISPR screens.
DR ChiTaRS; LAD1; human.
DR GeneWiki; LAD1; -.
DR GenomeRNAi; 3898; -.
DR Pharos; O00515; Tbio.
DR PRO; PR:O00515; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O00515; protein.
DR Bgee; ENSG00000159166; Expressed in lower esophagus mucosa and 135 other tissues.
DR ExpressionAtlas; O00515; baseline and differential.
DR Genevisible; O00515; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IDA:HPA.
DR GO; GO:0005604; C:basement membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0045296; F:cadherin binding; HDA:BHF-UCL.
DR GO; GO:0005198; F:structural molecule activity; TAS:ProtInc.
DR InterPro; IPR017404; Ladinin_1.
DR PANTHER; PTHR12392; PTHR12392; 1.
DR PIRSF; PIRSF038144; Ladinin_1; 1.
PE 1: Evidence at protein level;
KW Basement membrane; Extracellular matrix; Methylation; Phosphoprotein;
KW Reference proteome; Repeat; Secreted.
FT CHAIN 1..517
FT /note="Ladinin-1"
FT /id="PRO_0000084349"
FT REPEAT 203..205
FT /note="SEK 1"
FT REPEAT 209..211
FT /note="SEK 2"
FT REPEAT 215..217
FT /note="SEK 3"
FT REPEAT 221..223
FT /note="SEK 4"
FT REPEAT 227..229
FT /note="SEK 5"
FT REPEAT 239..241
FT /note="SEK 6"
FT REPEAT 257..259
FT /note="SEK 7"
FT REPEAT 269..271
FT /note="SEK 8"
FT REGION 1..401
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 203..271
FT /note="8 X SEK repeats"
FT REGION 481..517
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 17..41
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 42..58
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 73..101
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 136..177
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 195..209
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 216..236
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 291..305
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 356..372
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 38
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 64
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 78
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P57016"
FT MOD_RES 121
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 123
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 347
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P57016"
FT MOD_RES 356
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 394
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 424
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT MOD_RES 485
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT VARIANT 56
FT /note="A -> S (in dbSNP:rs3738281)"
FT /id="VAR_046539"
FT VARIANT 155
FT /note="A -> P (in dbSNP:rs1128316)"
FT /evidence="ECO:0000269|Ref.1, ECO:0000269|Ref.2"
FT /id="VAR_046540"
FT VARIANT 243
FT /note="L -> P (in dbSNP:rs12088790)"
FT /id="VAR_046541"
FT VARIANT 279
FT /note="P -> Q (in dbSNP:rs11805972)"
FT /id="VAR_046542"
FT VARIANT 323
FT /note="K -> E (in dbSNP:rs4128458)"
FT /id="VAR_046543"
FT VARIANT 503
FT /note="T -> S (in dbSNP:rs2275866)"
FT /id="VAR_046544"
SQ SEQUENCE 517 AA; 57131 MW; 622E81B9412A924B CRC64;
MAVSRKDWSA LSSLARQRTL EDEEEQERER RRRHRNLSST TDDEAPRLSQ NGDRQASASE
RLPSVEEAEV PKPLPPASKD EDEDIQSILR TRQERRQRRQ VVEAAQAPIQ ERLEAEEGRN
SLSPVQATQK PLVSKKELEI PPRRRLSREQ RGPWALEEES LVGREPEERK KGVPEKSPVL
EKSSMPKKTA PEKSLVSDKT SISEKVLASE KTSLSEKIAV SEKRNSSEKK SVLEKTSVSE
KSLAPGMALG SGRRLVSEKA SIFEKALASE KSPTADAKPA PKRATASEQP LAQEPPASGG
SPATTKEQRG RALPGKNLPS LAKQGASDPP TVASRLPPVT LQVKIPSKEE EADMSSPTQR
TYSSSLKRSS PRTISFRMKP KKENSETTLT RSASMKLPDN TVKLGEKLER YHTAIRRSES
VKSRGLPCTE LFVAPVGVAS KRHLFEKELA GQSRAEPASS RKENLRLSGV VTSRLNLWIS
RTQESGDQDP QEAQKASSAT ERTQWGQKSD SSLDAEV
