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Ladinin-1 (Lad-1) (Linear IgA disease antigen) (LADA)

 LAD1_HUMAN              Reviewed;         517 AA.
O00515; O95614; Q96GD8;
01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
23-SEP-2008, sequence version 2.
07-NOV-2018, entry version 133.
RecName: Full=Ladinin-1;
Short=Lad-1;
AltName: Full=Linear IgA disease antigen;
Short=LADA;
Name=LAD1; Synonyms=LAD;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT PRO-155.
TISSUE=Skin;
Megahed M., Motoki K., McGrath J., LaForgia S., Uitto J.;
"Cloning of a gene (LAD) underlining linear IgA disease and encoding a
novel anchoring filament of the basement membrane zone.";
Submitted (DEC-1995) to the EMBL/GenBank/DDBJ databases.
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT PRO-155.
Megahed M., LaForgia S., Motoki K., McGrath J.A., Uitto J.;
"Intron-exon organisation of ladinin gene, LAD.";
Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Trachea;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
CHARACTERIZATION.
Megahed M., Motoki K., McGrath J., LaForgia S., Uitto J.;
"Cloning of the human linear IgA disease gene (LADA) encoding a novel
anchoring filament protein, ladinin.";
J. Invest. Dermatol. 106:832-832(1996).
[6]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[7]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-38; SER-64; SER-121;
SER-123 AND SER-394, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE
SCALE ANALYSIS].
PubMed=21406692; DOI=10.1126/scisignal.2001570;
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
Blagoev B.;
"System-wide temporal characterization of the proteome and
phosphoproteome of human embryonic stem cell differentiation.";
Sci. Signal. 4:RS3-RS3(2011).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-38; SER-64; SER-356 AND
SER-485, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[9]
METHYLATION [LARGE SCALE ANALYSIS] AT ARG-424, AND IDENTIFICATION BY
MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Colon carcinoma;
PubMed=24129315; DOI=10.1074/mcp.O113.027870;
Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V.,
Aguiar M., Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C.,
Vemulapalli V., Bedford M.T., Comb M.J.;
"Immunoaffinity enrichment and mass spectrometry analysis of protein
methylation.";
Mol. Cell. Proteomics 13:372-387(2014).
-!- FUNCTION: Anchoring filament protein which is a component of the
basement membrane zone. {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
matrix, basement membrane {ECO:0000250}.
-!- SEQUENCE CAUTION:
Sequence=AAD10849.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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EMBL; U42408; AAB58817.1; -; mRNA.
EMBL; U58994; AAD10849.1; ALT_SEQ; Genomic_DNA.
EMBL; AK313388; BAG36186.1; -; mRNA.
EMBL; BC009742; AAH09742.1; -; mRNA.
CCDS; CCDS1410.1; -.
RefSeq; NP_005549.2; NM_005558.3.
UniGene; Hs.519035; -.
ProteinModelPortal; O00515; -.
BioGrid; 110095; 4.
IntAct; O00515; 5.
MINT; O00515; -.
STRING; 9606.ENSP00000375829; -.
iPTMnet; O00515; -.
PhosphoSitePlus; O00515; -.
BioMuta; LAD1; -.
EPD; O00515; -.
MaxQB; O00515; -.
PaxDb; O00515; -.
PeptideAtlas; O00515; -.
PRIDE; O00515; -.
ProteomicsDB; 47951; -.
DNASU; 3898; -.
Ensembl; ENST00000391967; ENSP00000375829; ENSG00000159166.
GeneID; 3898; -.
KEGG; hsa:3898; -.
UCSC; uc001gwm.4; human.
CTD; 3898; -.
DisGeNET; 3898; -.
EuPathDB; HostDB:ENSG00000159166.13; -.
GeneCards; LAD1; -.
HGNC; HGNC:6472; LAD1.
HPA; HPA007256; -.
HPA; HPA028732; -.
MIM; 602314; gene.
neXtProt; NX_O00515; -.
OpenTargets; ENSG00000159166; -.
PharmGKB; PA30263; -.
eggNOG; ENOG410IIRJ; Eukaryota.
eggNOG; ENOG410YZPA; LUCA.
GeneTree; ENSGT00390000005256; -.
HOGENOM; HOG000113274; -.
HOVERGEN; HBG006240; -.
InParanoid; O00515; -.
PhylomeDB; O00515; -.
TreeFam; TF335896; -.
ChiTaRS; LAD1; human.
GeneWiki; LAD1; -.
GenomeRNAi; 3898; -.
PRO; PR:O00515; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000159166; Expressed in 164 organ(s), highest expression level in esophagus mucosa.
CleanEx; HS_LAD1; -.
ExpressionAtlas; O00515; baseline and differential.
Genevisible; O00515; HS.
GO; GO:0015629; C:actin cytoskeleton; IDA:HPA.
GO; GO:0005604; C:basement membrane; IEA:UniProtKB-SubCell.
GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
GO; GO:0045296; F:cadherin binding; HDA:BHF-UCL.
GO; GO:0005198; F:structural molecule activity; TAS:ProtInc.
InterPro; IPR017404; Ladinin_1.
PANTHER; PTHR12392; PTHR12392; 3.
PIRSF; PIRSF038144; Ladinin_1; 1.
1: Evidence at protein level;
Basement membrane; Complete proteome; Extracellular matrix;
Methylation; Phosphoprotein; Polymorphism; Reference proteome; Repeat;
Secreted.
CHAIN 1 517 Ladinin-1.
/FTId=PRO_0000084349.
REPEAT 203 205 SEK 1.
REPEAT 209 211 SEK 2.
REPEAT 215 217 SEK 3.
REPEAT 221 223 SEK 4.
REPEAT 227 229 SEK 5.
REPEAT 239 241 SEK 6.
REPEAT 257 259 SEK 7.
REPEAT 269 271 SEK 8.
REGION 203 271 8 X SEK repeats.
COMPBIAS 28 35 Poly-Arg.
MOD_RES 38 38 Phosphoserine.
{ECO:0000244|PubMed:21406692,
ECO:0000244|PubMed:24275569}.
MOD_RES 64 64 Phosphoserine.
{ECO:0000244|PubMed:21406692,
ECO:0000244|PubMed:24275569}.
MOD_RES 78 78 Phosphoserine.
{ECO:0000250|UniProtKB:P57016}.
MOD_RES 121 121 Phosphoserine.
{ECO:0000244|PubMed:21406692}.
MOD_RES 123 123 Phosphoserine.
{ECO:0000244|PubMed:21406692}.
MOD_RES 347 347 Phosphoserine.
{ECO:0000250|UniProtKB:P57016}.
MOD_RES 356 356 Phosphoserine.
{ECO:0000244|PubMed:24275569}.
MOD_RES 394 394 Phosphoserine.
{ECO:0000244|PubMed:21406692}.
MOD_RES 424 424 Omega-N-methylarginine.
{ECO:0000244|PubMed:24129315}.
MOD_RES 485 485 Phosphoserine.
{ECO:0000244|PubMed:24275569}.
VARIANT 56 56 A -> S (in dbSNP:rs3738281).
/FTId=VAR_046539.
VARIANT 155 155 A -> P (in dbSNP:rs1128316).
{ECO:0000269|Ref.1, ECO:0000269|Ref.2}.
/FTId=VAR_046540.
VARIANT 243 243 L -> P (in dbSNP:rs12088790).
/FTId=VAR_046541.
VARIANT 279 279 P -> Q (in dbSNP:rs11805972).
/FTId=VAR_046542.
VARIANT 323 323 K -> E (in dbSNP:rs4128458).
/FTId=VAR_046543.
VARIANT 503 503 T -> S (in dbSNP:rs2275866).
/FTId=VAR_046544.
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


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