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O00515 (LAD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ladinin-1

Short name=Lad-1
Alternative name(s):
Linear IgA disease antigen
Short name=LADA
Gene names
Name:LAD1
Synonyms:LAD
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length517 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Secretedextracellular spaceextracellular matrixbasement membrane By similarity.

Sequence caution

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

Ontologies

Keywords
   Cellular componentBasement membrane
Extracellular matrix
Secreted
   Coding sequence diversityPolymorphism
   DomainRepeat
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentbasement membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionstructural molecule activity

Traceable author statement PubMed 9119369. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 517517Ladinin-1
PRO_0000084349

Regions

Repeat203 – 2053SEK 1
Repeat209 – 2113SEK 2
Repeat215 – 2173SEK 3
Repeat221 – 2233SEK 4
Repeat227 – 2293SEK 5
Repeat239 – 2413SEK 6
Repeat257 – 2593SEK 7
Repeat269 – 2713SEK 8
Region203 – 271698 X SEK repeats
Compositional bias28 – 358Poly-Arg

Amino acid modifications

Modified residue191Phosphothreonine Ref.7
Modified residue381Phosphoserine Ref.7
Modified residue641Phosphoserine Ref.7
Modified residue1211Phosphoserine Ref.7
Modified residue1231Phosphoserine Ref.7
Modified residue3941Phosphoserine Ref.7

Natural variations

Natural variant561A → S.
Corresponds to variant rs3738281 [ dbSNP | Ensembl ].
VAR_046539
Natural variant1551A → P. Ref.1 Ref.2
Corresponds to variant rs1128316 [ dbSNP | Ensembl ].
VAR_046540
Natural variant2431L → P.
Corresponds to variant rs12088790 [ dbSNP | Ensembl ].
VAR_046541
Natural variant2791P → Q.
Corresponds to variant rs11805972 [ dbSNP | Ensembl ].
VAR_046542
Natural variant3231K → E.
Corresponds to variant rs4128458 [ dbSNP | Ensembl ].
VAR_046543
Natural variant5031T → S.
Corresponds to variant rs2275866 [ dbSNP | Ensembl ].
VAR_046544

Sequences

Sequence LengthMass (Da)Tools
O00515 [UniParc].

Last modified September 23, 2008. Version 2.
Checksum: 622E81B9412A924B

FASTA51757,131
        10         20         30         40         50         60 
MAVSRKDWSA LSSLARQRTL EDEEEQERER RRRHRNLSST TDDEAPRLSQ NGDRQASASE 

        70         80         90        100        110        120 
RLPSVEEAEV PKPLPPASKD EDEDIQSILR TRQERRQRRQ VVEAAQAPIQ ERLEAEEGRN 

       130        140        150        160        170        180 
SLSPVQATQK PLVSKKELEI PPRRRLSREQ RGPWALEEES LVGREPEERK KGVPEKSPVL 

       190        200        210        220        230        240 
EKSSMPKKTA PEKSLVSDKT SISEKVLASE KTSLSEKIAV SEKRNSSEKK SVLEKTSVSE 

       250        260        270        280        290        300 
KSLAPGMALG SGRRLVSEKA SIFEKALASE KSPTADAKPA PKRATASEQP LAQEPPASGG 

       310        320        330        340        350        360 
SPATTKEQRG RALPGKNLPS LAKQGASDPP TVASRLPPVT LQVKIPSKEE EADMSSPTQR 

       370        380        390        400        410        420 
TYSSSLKRSS PRTISFRMKP KKENSETTLT RSASMKLPDN TVKLGEKLER YHTAIRRSES 

       430        440        450        460        470        480 
VKSRGLPCTE LFVAPVGVAS KRHLFEKELA GQSRAEPASS RKENLRLSGV VTSRLNLWIS 

       490        500        510 
RTQESGDQDP QEAQKASSAT ERTQWGQKSD SSLDAEV 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U42408 mRNA. Translation: AAB58817.1.
U58994 Genomic DNA. Translation: AAD10849.1. Sequence problems.
AK313388 mRNA. Translation: BAG36186.1.
BC009742 mRNA. Translation: AAH09742.1.
CCDSCCDS1410.1.
RefSeqNP_005549.2. NM_005558.3.
UniGeneHs.519035.

3D structure databases

ProteinModelPortalO00515.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110095. 3 interactions.
IntActO00515. 3 interactions.
MINTMINT-3974996.
STRING9606.ENSP00000375829.

PTM databases

PhosphoSiteO00515.

Proteomic databases

MaxQBO00515.
PaxDbO00515.
PRIDEO00515.

Protocols and materials databases

DNASU3898.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000391967; ENSP00000375829; ENSG00000159166.
GeneID3898.
KEGGhsa:3898.
UCSCuc001gwm.3. human.

Organism-specific databases

CTD3898.
GeneCardsGC01M201349.
HGNCHGNC:6472. LAD1.
HPAHPA007256.
HPA028732.
MIM602314. gene.
neXtProtNX_O00515.
PharmGKBPA30263.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG84480.
HOGENOMHOG000113274.
HOVERGENHBG006240.
InParanoidO00515.
PhylomeDBO00515.
TreeFamTF335896.

Gene expression databases

ArrayExpressO00515.
BgeeO00515.
CleanExHS_LAD1.
GenevestigatorO00515.

Family and domain databases

InterProIPR017404. Ladinin_1.
[Graphical view]
PIRSFPIRSF038144. Ladinin_1. 1 hit.
ProtoNetSearch...

Other

GeneWikiLAD1.
GenomeRNAi3898.
NextBio15305.
PROO00515.
SOURCESearch...

Entry information

Entry nameLAD1_HUMAN
AccessionPrimary (citable) accession number: O00515
Secondary accession number(s): O95614, Q96GD8
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: September 23, 2008
Last modified: July 9, 2014
This is version 104 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM