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Aliases for LAD1 Gene

Aliases for LAD1 Gene

  • Ladinin 1 2 3 5
  • Lad-1 3 4
  • Linear IgA Bullous Dermatosis Antigen 3
  • Linear IgA Disease Antigen Homolog 3
  • Linear IgA Disease Antigen 4
  • Ladinin-1 3
  • LadA 3
  • LADA 4
  • 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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for LAD1 Gene

Promoters and enhancers for LAD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J201394 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 657.5 +1.5 1529 7.7 HDGF FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B ZNF48 YY1 SLC30A9 LAD1 LOC101929343 TNNI1 IGFN1 PKP1 CSRP1 TNNT2
GH01J201305 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +90.3 90301 7.5 HDGF PKNOX1 FOXA2 CLOCK MLX ARID4B NEUROD1 SIN3A ZBTB7B YY1 PKP1 LAD1 ENSG00000229821 IGFN1 ASCL5 CACNA1S ELF3-AS1 INAVA GC01P201285 GC01M201335
GH01J201265 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +132.0 132017 4.5 RAD21 ZNF335 ZNF366 ZNF207 RCOR1 FOS DEK USF2 CEBPB SP1 TMEM9 ENSG00000229821 LAD1 IGFN1 PKP1 ASCL5 RNPEP INAVA GC01P201247
GH01J201282 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 10.4 +112.8 112802 8.6 HDGF CTCF ESRRA SUZ12 NFIB NEUROD1 E2F1 CTBP1 GATA3 POLR2A PKP1 GC01P201285 IGFN1 LAD1 ASCL5 LGR6 GC01M201335
GH01J201488 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -93.2 -93195 9.1 PKNOX1 FOXA2 ARID4B SIN3A BRCA1 YY1 ZNF143 ATF7 FOS DEK GC01M201488 GC01P201494 ENSG00000224818 NAV1 PHLDA3 LAD1 RPS10P7 LMOD1 CSRP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LAD1 gene promoter:
  • Olf-1
  • E47
  • MZF-1
  • AhR
  • GCNF
  • GCNF-1
  • GCNF-2
  • c-Rel
  • AREB6
  • HOXA9

Genomic Locations for LAD1 Gene

Genomic Locations for LAD1 Gene
26,672 bases
Minus strand
26,365 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • O95614
    • Q96GD8

    Protein attributes for LAD1 Gene

    517 amino acids
    Molecular mass:
    57131 Da
    Quaternary structure:
    No Data Available
    • 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

Gene Families for LAD1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for LAD1 Gene


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 UniProtKB/Swiss-Prot for LAD1 Gene

Function for LAD1 Gene

Molecular function for LAD1 Gene

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

Phenotypes From GWAS Catalog for LAD1 Gene

Gene Ontology (GO) - Molecular Function for LAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005604 basement membrane IEA --
GO:0015629 actin cytoskeleton IDA --
GO:0070062 extracellular exosome HDA 18570454
genes like me logo Genes that share ontologies with LAD1: view

Pathways & Interactions for LAD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LAD1 Gene


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

mRNA/cDNA for LAD1 Gene

Unigene Clusters for LAD1 Gene

Ladinin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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: -
SP5: - - - -
SP6: - - -
SP7: -

Relevant External Links for LAD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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, 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:


SOURCE GeneReport for Unigene cluster for LAD1 Gene:


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

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
(Pan troglodytes)
Mammalia LAD1 34 33
  • 99.01 (n)
(Canis familiaris)
Mammalia LAD1 34 33
  • 77.41 (n)
(Rattus norvegicus)
Mammalia Lad1 33
  • 75.88 (n)
(Mus musculus)
Mammalia Lad1 16 34 33
  • 75.55 (n)
(Bos Taurus)
Mammalia LAD1 34
  • 57 (a)
(Monodelphis domestica)
Mammalia LAD1 34
  • 55 (a)
(Ornithorhynchus anatinus)
Mammalia LAD1 34
  • 31 (a)
(Gallus gallus)
Aves LAD1 34
  • 35 (a)
(Anolis carolinensis)
Reptilia LAD1 34
  • 31 (a)
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

Gene Tree for LAD1 (if available)
Gene Tree for LAD1 (if available)
Evolutionary constrained regions (ECRs) for LAD1: view image

Paralogs for LAD1 Gene

(1) SIMAP similar genes for LAD1 Gene using alignment to 4 proteins:

  • H0Y901_HUMAN
  • Q6IPJ9_HUMAN 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 Variation AA Info Type
rs1000133133 -- 201,400,081(-) T/G upstream_transcript_variant
rs1000227609 -- 201,393,573(-) C/T intron_variant
rs1000264306 -- 201,387,388(-) C/T intron_variant
rs1000285350 -- 201,386,092(-) G/C intron_variant
rs1000337205 -- 201,385,876(-) T/G 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)

Additional Variant Information for LAD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for LAD1 Gene

MalaCards: The human disease database

(6) 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 junctionalis, non-herlitz type
type 1 diabetes mellitus 18
  • diabetes mellitus, insulin-dependent, 18
pyloric atresia
type 1 diabetes mellitus 5
  • diabetes mellitus, insulin-dependent, 5
- elite association - COSMIC cancer census association via MalaCards
Search LAD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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. 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 (The Journal of investigative dermatology 1998) 3 22 58
  2. 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 (The Journal of investigative dermatology 1998) 3 22 58
  3. Cloning and chromosomal mapping of mouse ladinin, a novel basement membrane zone component. (PMID: 9119369) Motoki K … Uitto J (Genomics 1997) 2 3 58
  4. LAD-1, the linear IgA bullous dermatosis autoantigen, is a novel 120-kDa anchoring filament protein synthesized by epidermal cells. (PMID: 8618013) Marinkovich MP … Zone JJ (The Journal of investigative dermatology 1996) 2 3 58
  5. Long-Term Balancing Selection in LAD1 Maintains a Missense Trans-Species Polymorphism in Humans, Chimpanzees, and Bonobos. (PMID: 25605789) Teixeira JC … Andrés AM (Molecular biology and evolution 2015) 3 58

Products for LAD1 Gene

Sources for LAD1 Gene

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