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Aliases for LAD1 Gene

Aliases for LAD1 Gene

  • Ladinin 1 2 3
  • LAD-1 3 4
  • LadA 3 4
  • Linear IgA Bullous Dermatosis Antigen 3
  • Linear IgA Disease Antigen Homolog 3
  • Linear IgA Disease Antigen 4
  • Ladinin-1 3
  • LAD 4

External Ids for LAD1 Gene

Previous GeneCards Identifiers for LAD1 Gene

  • GC01P199048
  • GC01P196782
  • GC01M197816
  • GC01M198638
  • GC01M198081
  • GC01M199617
  • GC01M201349
  • GC01M172516
  • GC01M201350

Summaries for LAD1 Gene

Entrez Gene Summary for LAD1 Gene

  • The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008]

GeneCards Summary for LAD1 Gene

LAD1 (Ladinin 1) is a Protein Coding gene. Diseases associated with LAD1 include epidermolysis bullosa acquisita and linear iga disease. GO annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot for LAD1 Gene

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

Gene Wiki entry for LAD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAD1 Gene

Genomics for LAD1 Gene

Regulatory Elements for LAD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LAD1 Gene

Start:
201,373,244 bp from pter
End:
201,399,608 bp from pter
Size:
26,365 bases
Orientation:
Minus strand

Genomic View for LAD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAD1 Gene

Proteins for LAD1 Gene

  • Protein details for LAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00515-LAD1_HUMAN
    Recommended name:
    Ladinin-1
    Protein Accession:
    O00515
    Secondary Accessions:
    • O95614
    • Q96GD8

    Protein attributes for LAD1 Gene

    Size:
    517 amino acids
    Molecular mass:
    57131 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD10849.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for LAD1 Gene

Proteomics data for LAD1 Gene at MOPED

Post-translational modifications for LAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LAD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LAD1 Gene

Domains for LAD1 Gene

Protein Domains for LAD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LAD1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for LAD1 Gene

Function for LAD1 Gene

Molecular function for LAD1 Gene

GENATLAS Biochemistry: ladinin 1,59kDa,component of the basement membranes,expressed in keratinocytes
UniProtKB/Swiss-Prot Function: Anchoring filament protein which is a component of the basement membrane zone.

Gene Ontology (GO) - Molecular Function for LAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 9119369
genes like me logo Genes that share ontologies with LAD1: view
genes like me logo Genes that share phenotypes with LAD1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for LAD1 Gene

Localization for LAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAD1 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAD1 Gene COMPARTMENTS Subcellular localization image for LAD1 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
extracellular 2

Gene Ontology (GO) - Cellular Components for LAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA --
GO:0070062 extracellular exosome IDA 18570454
genes like me logo Genes that share ontologies with LAD1: view

Pathways for LAD1 Gene

SuperPathways for LAD1 Gene

No Data Available

Interacting Proteins for LAD1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000375829%0d%0a9606.ENSP00000340937%0d%0a9606.ENSP00000356480%0d%0a
Selected Interacting proteins: O00515-LAD1_HUMAN ENSP00000375829 for LAD1 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for LAD1 Gene

None

No data available for Pathways by source for LAD1 Gene

Transcripts for LAD1 Gene

Unigene Clusters for LAD1 Gene

Ladinin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LAD1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14
SP1: - - - - -
SP2: -
SP3: -
SP4:
SP5: - - - -
SP6: - - -
SP7: -

Relevant External Links for LAD1 Gene

GeneLoc Exon Structure for
LAD1
ECgene alternative splicing isoforms for
LAD1

Expression for LAD1 Gene

mRNA expression in normal human tissues for LAD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAD1 Gene

This gene is overexpressed in Esophagus - Mucosa (13.2), Skin - Sun Exposed (Lower leg) (7.7), Skin - Not Sun Exposed (Suprapubic) (7.4), and Vagina (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LAD1 Gene

SOURCE GeneReport for Unigene cluster for LAD1 Gene Hs.519035

genes like me logo Genes that share expressions with LAD1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for LAD1 Gene

Orthologs for LAD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAD1 35
  • 99.01 (n)
  • 98.61 (a)
LAD1 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAD1 36
  • 57 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAD1 35
  • 77.41 (n)
  • 70.71 (a)
LAD1 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lad1 35
  • 75.55 (n)
  • 69.18 (a)
Lad1 16
Lad1 36
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAD1 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAD1 36
  • 31 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lad1 35
  • 75.88 (n)
  • 71.14 (a)
chicken
(Gallus gallus)
Aves LAD1 36
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAD1 36
  • 31 (a)
OneToOne
Species with no ortholog for LAD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LAD1 Gene

ENSEMBL:
Gene Tree for LAD1 (if available)
TreeFam:
Gene Tree for LAD1 (if available)

Paralogs for LAD1 Gene

Selected SIMAP similar genes for LAD1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for LAD1 Gene

genes like me logo Genes that share paralogs with LAD1: view

No data available for Paralogs for LAD1 Gene

Variants for LAD1 Gene

Sequence variations from dbSNP and Humsavar for LAD1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1071585 -- 201,381,778(-) CCCTT(G/T)TTGGC utr-variant-3-prime
rs1071586 -- 201,381,774(-) TGTTG(C/G)CTGTG utr-variant-3-prime
rs1110441 -- 201,381,902(-) TCTTT(G/T)CCCCA intron-variant
rs1128316 - 201,386,898(-) CCTGG(C/G)CCCTG missense, reference
rs1128326 -- 201,381,370(-) TGCGT(C/T)TTCCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for LAD1 Gene

Variant ID Type Subtype PubMed ID
nsv467961 CNV Gain 19166990
nsv470776 CNV Gain 18288195
nsv832315 CNV Loss 17160897
nsv832326 CNV Loss 17160897
nsv508687 CNV Loss 20534489

Relevant External Links for LAD1 Gene

HapMap Linkage Disequilibrium report
LAD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAD1 Gene

Disorders for LAD1 Gene

(1) University of Copenhagen DISEASES for LAD1 Gene

(5) Novoseek inferred disease relationships for LAD1 Gene

Disease -log(P) Hits PubMed IDs
gabeb 88.8 2
pemphigoid bullous 80.2 2
pemphigoid cicatricial 73.7 1
epidermolysis bullosa acquisita 73.5 2
skin diseases 70.7 10
genes like me logo Genes that share disorders with LAD1: view

No data available for UniProtKB/Swiss-Prot for LAD1 Gene

Publications for LAD1 Gene

  1. The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1. (PMID: 9804354) Shimizu H. … Nishikawa T. (J. Invest. Dermatol. 1998) 3 23
  2. Cloning and chromosomal mapping of mouse ladinin, a novel basement membrane zone component. (PMID: 9119369) Motoki K. … Uitto J. (Genomics 1997) 2 3
  3. 97 kDa linear IgA bullous dermatosis antigen localizes in the lamina lucida between the NC16A and carboxyl terminal domains of the 180 kDa bullous pemphigoid antigen. (PMID: 9665393) Ishiko A. … Nishikawa T. (J. Invest. Dermatol. 1998) 3 23
  4. LAD-1, the linear IgA bullous dermatosis autoantigen, is a novel 120- kDa anchoring filament protein synthesized by epidermal cells. (PMID: 8618013) Marinkovich M.P. … Zone J.J. (J. Invest. Dermatol. 1996) 2 3
  5. 97-kDa linear IgA bullous dermatosis (LAD) antigen localizes to the lamina lucida of the epidermal basement membrane. (PMID: 8618014) Ishiko A. … Nishikawa T. (J. Invest. Dermatol. 1996) 3

Products for LAD1 Gene

Sources for LAD1 Gene

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