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Aliases for LAD1 Gene

Aliases for LAD1 Gene

  • Ladinin 1 2 3 5
  • 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 Linear Iga Disease and Epidermolysis Bullosa, Junctional, Non-Herlitz Type. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAD1 Gene

Genomics for LAD1 Gene

Regulatory Elements for LAD1 Gene

Enhancers for LAD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G201305 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +90.3 90302 7.5 HDGF PKNOX1 MLX ARID4B SIN3A ZBTB7B YY1 ZNF207 ZNF143 FOS PKP1 LAD1 ENSG00000229821 IGFN1 ASCL5 CACNA1S INAVA GC01P201285 GC01M201335
GH01G201265 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +132.0 132018 4.5 TBP SIN3A RAD21 ZNF366 ZNF207 RCOR1 FOS DEK USF2 CEBPB TMEM9 ENSG00000229821 LAD1 IGFN1 PKP1 ASCL5 RNPEP INAVA GC01P201247
GH01G201488 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -93.2 -93195 9.1 HDGF FOXA2 PKNOX1 ARID4B SIN3A FEZF1 ZBTB7B YY1 ZNF207 ZNF143 ENSG00000224818 NAV1 PHLDA3 LAD1 ENSG00000223396 LMOD1 CSRP1 GC01P201494 GC01M201488
GH01G201435 1.6 Ensembl ENCODE dbSUPER 11.4 -36.1 -36054 0.9 HNRNPUL1 HDGF MLX ARNT ZFP64 SIN3A ARID4B FEZF1 ZNF2 ZBTB7B IPO9-AS1 IPO9 ENSG00000224818 PHLDA3 LAD1 CSRP1 ENSG00000224536 TNNT2 ENSG00000235121 LOC101929367
GH01G201274 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +124.5 124522 2.3 TBP PKNOX1 NFIB RAD21 SMARCC2 RCOR1 FOS SMARCC1 NFYA USF2 IPO9 IPO9-AS1 ENSG00000229821 IGFN1 LAD1 PKP1 GC01P201247
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LAD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LAD1 Gene

Chromosome:
1
Start:
201,373,244 bp from pter
End:
201,399,915 bp from pter
Size:
26,672 bases
Orientation:
Minus strand

Genomic View for LAD1 Gene

Genes around LAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for LAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LAD1 Gene

No data available for DME Specific Peptides for LAD1 Gene

Domains & Families 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
GO:0045296 cadherin binding IDA 25468996
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LAD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAD1 gene
Compartment Confidence
extracellular 5
cytoskeleton 3
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for LAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane IEA --
GO:0070062 extracellular exosome IDA,IEA 18570454
genes like me logo Genes that share ontologies with LAD1: view

Pathways & Interactions for LAD1 Gene

No Data Available

Interacting Proteins for LAD1 Gene

Gene Ontology (GO) - Biological Process for LAD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LAD1 Gene

Drugs & Compounds for LAD1 Gene

No Compound Related Data Available

Transcripts for LAD1 Gene

Unigene Clusters for LAD1 Gene

Ladinin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LAD1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x13.2), Skin - Sun Exposed (Lower leg) (x7.7), Skin - Not Sun Exposed (Suprapubic) (x7.4), and Vagina (x4.5).

Protein differential expression in normal tissues from HIPED for LAD1 Gene

This gene is overexpressed in Cervix (23.1), Pancreas (11.9), and Islet of Langerhans (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LAD1 Gene



Protein tissue co-expression partners for LAD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LAD1 Gene:

LAD1

SOURCE GeneReport for Unigene cluster for LAD1 Gene:

Hs.519035

Evidence on tissue expression from TISSUES for LAD1 Gene

  • Skin(4.4)
  • Liver(4.2)
  • Pancreas(3.1)
  • Intestine(2.7)
genes like me logo Genes that share expression patterns with LAD1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.01 (n)
dog
(Canis familiaris)
Mammalia LAD1 34 35
  • 77.41 (n)
rat
(Rattus norvegicus)
Mammalia Lad1 34
  • 75.88 (n)
mouse
(Mus musculus)
Mammalia Lad1 34 16 35
  • 75.55 (n)
cow
(Bos Taurus)
Mammalia LAD1 35
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAD1 35
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAD1 35
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAD1 35
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAD1 35
  • 31 (a)
OneToOne
Species where no ortholog for LAD1 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs1000133133 -- 201,400,081(+) CAGGG(G/T)GTATA intron-variant, upstream-variant-2KB
rs1000227609 -- 201,393,573(+) AAACC(C/T)TGTCT intron-variant
rs1000264306 -- 201,387,388(+) AAAAG(C/T)TTATA intron-variant
rs1000285350 -- 201,386,092(+) GGTGG(C/G)GGGCA intron-variant
rs1000337205 -- 201,385,876(+) CCCCA(G/T)GGCTC intron-variant

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
nsv508687 CNV deletion 20534489
nsv548997 CNV gain 21841781
nsv832315 CNV loss 17160897
nsv832326 CNV loss 17160897
nsv947466 CNV duplication 23825009

Variation tolerance for LAD1 Gene

Residual Variation Intolerance Score: 96.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.03; 80.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAD1

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

Disorders for LAD1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for LAD1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
linear iga disease
  • lad
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa, junctional, localisata variant
bullous pemphigoid
  • benign pemphigus
diabetes mellitus, insulin-dependent, 18
  • type 1 diabetes mellitus 18
glucose metabolism disease
  • disorder of glucose metabolism
- elite association - COSMIC cancer census association via MalaCards
Search LAD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LAD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAD1
genes like me logo Genes that share disorders with LAD1: view

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

Publications for LAD1 Gene

  1. 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 22 64
  2. 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 22 64
  3. Cloning and chromosomal mapping of mouse ladinin, a novel basement membrane zone component. (PMID: 9119369) Motoki K. … Uitto J. (Genomics 1997) 2 3 64
  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 64
  5. Long-Term Balancing Selection in LAD1 Maintains a Missense Trans-Species Polymorphism in Humans, Chimpanzees, and Bonobos. (PMID: 25605789) Teixeira J.C. … AndrAcs A.M. (Mol. Biol. Evol. 2015) 3 64

Products for LAD1 Gene

Sources for LAD1 Gene

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