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O00515

- LAD1_HUMAN

UniProt

O00515 - LAD1_HUMAN

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Protein

Ladinin-1

Gene

LAD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. structural molecule activity Source: ProtInc
Complete GO annotation...

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-KW
Complete GO annotation...

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

BgeeiO00515.
CleanExiHS_LAD1.
ExpressionAtlasiO00515. baseline and differential.
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.
GeneTreeiENSGT00390000005256.
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

        10         20         30         40         50
MAVSRKDWSA LSSLARQRTL EDEEEQERER RRRHRNLSST TDDEAPRLSQ
60 70 80 90 100
NGDRQASASE RLPSVEEAEV PKPLPPASKD EDEDIQSILR TRQERRQRRQ
110 120 130 140 150
VVEAAQAPIQ ERLEAEEGRN SLSPVQATQK PLVSKKELEI PPRRRLSREQ
160 170 180 190 200
RGPWALEEES LVGREPEERK KGVPEKSPVL EKSSMPKKTA PEKSLVSDKT
210 220 230 240 250
SISEKVLASE KTSLSEKIAV SEKRNSSEKK SVLEKTSVSE KSLAPGMALG
260 270 280 290 300
SGRRLVSEKA SIFEKALASE KSPTADAKPA PKRATASEQP LAQEPPASGG
310 320 330 340 350
SPATTKEQRG RALPGKNLPS LAKQGASDPP TVASRLPPVT LQVKIPSKEE
360 370 380 390 400
EADMSSPTQR TYSSSLKRSS PRTISFRMKP KKENSETTLT RSASMKLPDN
410 420 430 440 450
TVKLGEKLER YHTAIRRSES VKSRGLPCTE LFVAPVGVAS KRHLFEKELA
460 470 480 490 500
GQSRAEPASS RKENLRLSGV VTSRLNLWIS RTQESGDQDP QEAQKASSAT
510
ERTQWGQKSD SSLDAEV
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 GC01M201350.
HGNCi HGNC:6472. LAD1.
HPAi HPA007256.
HPA028732.
MIMi 602314. gene.
neXtProti NX_O00515.
PharmGKBi PA30263.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG84480.
GeneTreei ENSGT00390000005256.
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

Bgeei O00515.
CleanExi HS_LAD1.
ExpressionAtlasi O00515. baseline and differential.
Genevestigatori O00515.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 106 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