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] See more...

Aliases for LAD1 Gene

Aliases for LAD1 Gene

  • Ladinin 1 2 3 5
  • Ladinin-1 3 4
  • Lad-1 3 4
  • Linear IgA Bullous Dermatosis Antigen 3
  • Linear IgA Disease Antigen Homolog 3
  • Linear IgA Disease Antigen 4
  • 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 Cicatricial Pemphigoid. Gene Ontology (GO) annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for LAD1 Gene

Genomics for LAD1 Gene

GeneHancer (GH) Regulatory Elements for LAD1 Gene

Promoters and enhancers for LAD1 Gene
- 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:
  • AhR
  • AREB6
  • c-Rel
  • E47
  • GCNF
  • GCNF-1
  • GCNF-2
  • HOXA9
  • MZF-1
  • Olf-1

Genomic Locations for LAD1 Gene

Genomic Locations for LAD1 Gene
chr1:201,380,838-201,399,915
(GRCh38/hg38)
Size:
19,078 bases
Orientation:
Minus strand
chr1:201,342,372-201,368,736
(GRCh37/hg19)
Size:
26,365 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

Gene Families for LAD1 Gene

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

Protein Domains for LAD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAD1 Gene

GenScript: Design optimal peptide antigens:
  • Linear IgA disease antigen (LAD1_HUMAN)
  • Ladinin 1 (Q6IPJ9_HUMAN)
genes like me logo Genes that share domains with LAD1: view

No data available for Graphical View of Domain Structure and 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 HDA 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

Clone Products

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

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
cytoskeleton 4
extracellular 3
nucleus 3

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

PathCards logo

SuperPathways for LAD1 Gene

No Data Available

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

mRNA/cDNA for LAD1 Gene

CRISPR Products

Inhibitory RNA Products

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

Clone 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 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:

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

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 33 32
  • 99.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LAD1 33 32
  • 77.41 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lad1 32
  • 75.88 (n)
mouse
(Mus musculus)
Mammalia Lad1 17 33 32
  • 75.55 (n)
cow
(Bos Taurus)
Mammalia LAD1 33
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAD1 33
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAD1 33
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAD1 33
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAD1 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LAD1: view image

Paralogs for LAD1 Gene

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

  • LAD1_HUMAN
  • E9PDI4_HUMAN
  • H0Y901_HUMAN
  • Q6IPJ9_HUMAN

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 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
LAD1

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

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

Disorder Aliases PubMed IDs
linear iga disease
  • lad
cicatricial pemphigoid
  • benign mucous membrane pemphigoid
bullous pemphigoid
  • benign pemphigus
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa junctionalis, non-herlitz type
pyloric atresia
- 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. 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 23 56
  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 (The Journal of investigative dermatology 1998) 3 23 56
  3. Cloning and chromosomal mapping of mouse ladinin, a novel basement membrane zone component. (PMID: 9119369) Motoki K … Uitto J (Genomics 1997) 2 3 56
  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 56
  5. SILAC identifies LAD1 as a filamin-binding regulator of actin dynamics in response to EGF and a marker of aggressive breast tumors. (PMID: 29382783) Roth L … Yarden Y (Science signaling 2018) 3 56

Products for LAD1 Gene

Sources for LAD1 Gene