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O00515

- LAD1_HUMAN

UniProt

O00515 - LAD1_HUMAN

Protein

Ladinin-1

Gene

LAD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 2 (23 Sep 2008)
      Previous versions | rss
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    Functioni

    Anchoring filament protein which is a component of the basement membrane zone.By similarity

    GO - Molecular functioni

    1. structural molecule activity Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ladinin-1
    Short name:
    Lad-1
    Alternative name(s):
    Linear IgA disease antigen
    Short name:
    LADA
    Gene namesi
    Name:LAD1
    Synonyms:LAD
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:6472. LAD1.

    Subcellular locationi

    GO - Cellular componenti

    1. basement membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Basement membrane, Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30263.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 517517Ladinin-1PRO_0000084349Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei19 – 191Phosphothreonine1 Publication
    Modified residuei38 – 381Phosphoserine1 Publication
    Modified residuei64 – 641Phosphoserine1 Publication
    Modified residuei121 – 1211Phosphoserine1 Publication
    Modified residuei123 – 1231Phosphoserine1 Publication
    Modified residuei394 – 3941Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO00515.
    PaxDbiO00515.
    PRIDEiO00515.

    PTM databases

    PhosphoSiteiO00515.

    Expressioni

    Gene expression databases

    ArrayExpressiO00515.
    BgeeiO00515.
    CleanExiHS_LAD1.
    GenevestigatoriO00515.

    Organism-specific databases

    HPAiHPA007256.
    HPA028732.

    Interactioni

    Protein-protein interaction databases

    BioGridi110095. 3 interactions.
    IntActiO00515. 3 interactions.
    MINTiMINT-3974996.
    STRINGi9606.ENSP00000375829.

    Structurei

    3D structure databases

    ProteinModelPortaliO00515.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati203 – 2053SEK 1
    Repeati209 – 2113SEK 2
    Repeati215 – 2173SEK 3
    Repeati221 – 2233SEK 4
    Repeati227 – 2293SEK 5
    Repeati239 – 2413SEK 6
    Repeati257 – 2593SEK 7
    Repeati269 – 2713SEK 8

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni203 – 271698 X SEK repeatsAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi28 – 358Poly-Arg

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG84480.
    HOGENOMiHOG000113274.
    HOVERGENiHBG006240.
    InParanoidiO00515.
    PhylomeDBiO00515.
    TreeFamiTF335896.

    Family and domain databases

    InterProiIPR017404. Ladinin_1.
    [Graphical view]
    PIRSFiPIRSF038144. Ladinin_1. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    O00515-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAVSRKDWSA LSSLARQRTL EDEEEQERER RRRHRNLSST TDDEAPRLSQ    50
    NGDRQASASE RLPSVEEAEV PKPLPPASKD EDEDIQSILR TRQERRQRRQ 100
    VVEAAQAPIQ ERLEAEEGRN SLSPVQATQK PLVSKKELEI PPRRRLSREQ 150
    RGPWALEEES LVGREPEERK KGVPEKSPVL EKSSMPKKTA PEKSLVSDKT 200
    SISEKVLASE KTSLSEKIAV SEKRNSSEKK SVLEKTSVSE KSLAPGMALG 250
    SGRRLVSEKA SIFEKALASE KSPTADAKPA PKRATASEQP LAQEPPASGG 300
    SPATTKEQRG RALPGKNLPS LAKQGASDPP TVASRLPPVT LQVKIPSKEE 350
    EADMSSPTQR TYSSSLKRSS PRTISFRMKP KKENSETTLT RSASMKLPDN 400
    TVKLGEKLER YHTAIRRSES VKSRGLPCTE LFVAPVGVAS KRHLFEKELA 450
    GQSRAEPASS RKENLRLSGV VTSRLNLWIS RTQESGDQDP QEAQKASSAT 500
    ERTQWGQKSD SSLDAEV 517
    Length:517
    Mass (Da):57,131
    Last modified:September 23, 2008 - v2
    Checksum:i622E81B9412A924B
    GO

    Sequence cautioni

    The sequence AAD10849.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti56 – 561A → S.
    Corresponds to variant rs3738281 [ dbSNP | Ensembl ].
    VAR_046539
    Natural varianti155 – 1551A → P.2 Publications
    Corresponds to variant rs1128316 [ dbSNP | Ensembl ].
    VAR_046540
    Natural varianti243 – 2431L → P.
    Corresponds to variant rs12088790 [ dbSNP | Ensembl ].
    VAR_046541
    Natural varianti279 – 2791P → Q.
    Corresponds to variant rs11805972 [ dbSNP | Ensembl ].
    VAR_046542
    Natural varianti323 – 3231K → E.
    Corresponds to variant rs4128458 [ dbSNP | Ensembl ].
    VAR_046543
    Natural varianti503 – 5031T → S.
    Corresponds to variant rs2275866 [ dbSNP | Ensembl ].
    VAR_046544

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U42408 mRNA. Translation: AAB58817.1.
    U58994 Genomic DNA. Translation: AAD10849.1. Sequence problems.
    AK313388 mRNA. Translation: BAG36186.1.
    BC009742 mRNA. Translation: AAH09742.1.
    CCDSiCCDS1410.1.
    RefSeqiNP_005549.2. NM_005558.3.
    UniGeneiHs.519035.

    Genome annotation databases

    EnsembliENST00000391967; ENSP00000375829; ENSG00000159166.
    GeneIDi3898.
    KEGGihsa:3898.
    UCSCiuc001gwm.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U42408 mRNA. Translation: AAB58817.1 .
    U58994 Genomic DNA. Translation: AAD10849.1 . Sequence problems.
    AK313388 mRNA. Translation: BAG36186.1 .
    BC009742 mRNA. Translation: AAH09742.1 .
    CCDSi CCDS1410.1.
    RefSeqi NP_005549.2. NM_005558.3.
    UniGenei Hs.519035.

    3D structure databases

    ProteinModelPortali O00515.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110095. 3 interactions.
    IntActi O00515. 3 interactions.
    MINTi MINT-3974996.
    STRINGi 9606.ENSP00000375829.

    PTM databases

    PhosphoSitei O00515.

    Proteomic databases

    MaxQBi O00515.
    PaxDbi O00515.
    PRIDEi O00515.

    Protocols and materials databases

    DNASUi 3898.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000391967 ; ENSP00000375829 ; ENSG00000159166 .
    GeneIDi 3898.
    KEGGi hsa:3898.
    UCSCi uc001gwm.3. human.

    Organism-specific databases

    CTDi 3898.
    GeneCardsi GC01M201349.
    HGNCi HGNC:6472. LAD1.
    HPAi HPA007256.
    HPA028732.
    MIMi 602314. gene.
    neXtProti NX_O00515.
    PharmGKBi PA30263.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG84480.
    HOGENOMi HOG000113274.
    HOVERGENi HBG006240.
    InParanoidi O00515.
    PhylomeDBi O00515.
    TreeFami TF335896.

    Miscellaneous databases

    GeneWikii LAD1.
    GenomeRNAii 3898.
    NextBioi 15305.
    PROi O00515.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00515.
    Bgeei O00515.
    CleanExi HS_LAD1.
    Genevestigatori O00515.

    Family and domain databases

    InterProi IPR017404. Ladinin_1.
    [Graphical view ]
    PIRSFi PIRSF038144. Ladinin_1. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of a gene (LAD) underlining linear IgA disease and encoding a novel anchoring filament of the basement membrane zone."
      Megahed M., Motoki K., McGrath J., LaForgia S., Uitto J.
      Submitted (DEC-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT PRO-155.
      Tissue: Skin.
    2. "Intron-exon organisation of ladinin gene, LAD."
      Megahed M., LaForgia S., Motoki K., McGrath J.A., Uitto J.
      Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-155.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      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.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Trachea.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    5. "Cloning of the human linear IgA disease gene (LADA) encoding a novel anchoring filament protein, ladinin."
      Megahed M., Motoki K., McGrath J., LaForgia S., Uitto J.
      J. Invest. Dermatol. 106:832-832(1996)
      Cited for: CHARACTERIZATION.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-19; SER-38; SER-64; SER-121; SER-123 AND SER-394, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiLAD1_HUMAN
    AccessioniPrimary (citable) accession number: O00515
    Secondary accession number(s): O95614, Q96GD8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: September 23, 2008
    Last modified: October 1, 2014
    This is version 105 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3