O00515 (LAD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ladinin-1
Short name=Lad-1

Alternative name(s):
Linear IgA disease antigen
Short name=LADA

Gene names

Name:	LAD1
Synonyms:	LAD

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	517 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Anchoring filament protein which is a component of the basement membrane zone By similarity.
Subcellular location	Secreted › extracellular space › extracellular matrix › basement membrane By similarity.
Sequence caution	The sequence AAD10849.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Basement membrane Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Domain	Repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	actin cytoskeleton Inferred from direct assay. Source: HPA basement membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	structural molecule activity Traceable author statement PubMed 9119369. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 517	517	Ladinin-1		PRO_0000084349
Regions
	Repeat	203 – 205	3	SEK 1
	Repeat	209 – 211	3	SEK 2
	Repeat	215 – 217	3	SEK 3
	Repeat	221 – 223	3	SEK 4
	Repeat	227 – 229	3	SEK 5
	Repeat	239 – 241	3	SEK 6
	Repeat	257 – 259	3	SEK 7
	Repeat	269 – 271	3	SEK 8
	Region	203 – 271	69	8 X SEK repeats
	Compositional bias	28 – 35	8	Poly-Arg
Amino acid modifications
	Modified residue	19	1	Phosphothreonine Ref.7
	Modified residue	38	1	Phosphoserine Ref.7
	Modified residue	64	1	Phosphoserine Ref.7
	Modified residue	121	1	Phosphoserine Ref.7
	Modified residue	123	1	Phosphoserine Ref.7
	Modified residue	394	1	Phosphoserine Ref.7
	Modified residue	512	1	Phosphoserine By similarity
Natural variations
	Natural variant	56	1	A → S. Corresponds to variant rs3738281 [ dbSNP | Ensembl ].		VAR_046539
	Natural variant	155	1	A → P. Ref.1 Ref.2 Corresponds to variant rs1128316 [ dbSNP | Ensembl ].		VAR_046540
	Natural variant	243	1	L → P. Corresponds to variant rs12088790 [ dbSNP | Ensembl ].		VAR_046541
	Natural variant	279	1	P → Q. Corresponds to variant rs11805972 [ dbSNP | Ensembl ].		VAR_046542
	Natural variant	323	1	K → E. Corresponds to variant rs4128458 [ dbSNP | Ensembl ].		VAR_046543
	Natural variant	503	1	T → S. Corresponds to variant rs2275866 [ dbSNP | Ensembl ].		VAR_046544

Sequences

	Sequence		Length	Mass (Da)
	O00515 [UniParc]. Last modified September 23, 2008. Version 2. Checksum: 622E81B9412A924B	FASTA	517	57,131
	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

References

	« Hide 'large scale' referencesShow '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. , 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, MASS SPECTROMETRY.
+	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.
IPI	IPI00514234.
RefSeq	NP_005549.2. NM_005558.3.
UniGene	Hs.519035.
3D structure databases
ProteinModelPortal	O00515.
ModBase	Search...
Protein-protein interaction databases
IntAct	O00515. 1 interaction.
MINT	MINT-3974996.
STRING	9606.ENSP00000375829.
PTM databases
PhosphoSite	O00515.
Proteomic databases
PaxDb	O00515.
PRIDE	O00515.
Protocols and materials databases
DNASU	3898.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000391967; ENSP00000375829; ENSG00000159166.
GeneID	3898.
KEGG	hsa:3898.
UCSC	uc001gwm.3. human.
Organism-specific databases
CTD	3898.
GeneCards	GC01M201349.
HGNC	HGNC:6472. LAD1.
HPA	HPA007256. HPA028732.
MIM	602314. gene.
neXtProt	NX_O00515.
PharmGKB	PA30263.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG84480.
HOGENOM	HOG000113274.
HOVERGEN	HBG006240.
InParanoid	O00515.
PhylomeDB	O00515.
Gene expression databases
ArrayExpress	O00515.
Bgee	O00515.
CleanEx	HS_LAD1.
Genevestigator	O00515.
GermOnline	ENSG00000159166. Homo sapiens.
Family and domain databases
InterPro	IPR017404. Ladinin_1. [Graphical view]
PIRSF	PIRSF038144. Ladinin_1. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	3898.
NextBio	15305.
SOURCE	Search...

Entry information

Entry name

LAD1_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 94 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.