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LAD1 Gene

protein-coding   GIFtS: 55
GCID: GC01M201350

Ladinin 1

  See LAD1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ladinin 11 2     Linear IgA Disease Antigen Homolog2
LadA2     LAD3
lad-12     LADA3
ladinin-12     Lad-13
Linear IgA Bullous Dermatosis Antigen2     Linear IgA Disease Antigen3

External Ids:    HGNC: 64721   Entrez Gene: 38982   Ensembl: ENSG000001591667   OMIM: 6023145   UniProtKB: O005153   

Export aliases for LAD1 gene to outside databases

Previous GC identifers: GC01P199048 GC01P196782 GC01M197816 GC01M198638 GC01M198081 GC01M199617 GC01M201349 GC01M172516


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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: LAD1_HUMAN, O00515
Function: Anchoring filament protein which is a component of the basement membrane zone (By similarity)

Gene Wiki entry for LAD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the LAD1 gene promoter:
         HOXA9   AhR   GCNF   Olf-1   E47   MZF-1   AREB6   c-Rel   GCNF-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLAD1 promoter sequence
   Search Chromatin IP Primers for LAD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LAD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25.1-q32.3   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q25.1-q32.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M201350:  view genomic region     (about GC identifiers)

Start:
201,342,372 bp from pter      End:
201,368,736 bp from pter
Size:
26,365 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LAD1_HUMAN, O00515 (See protein sequence)
Recommended Name: Ladinin-1  
Size: 517 amino acids; 57131 Da
Sequence caution: Sequence=AAD10849.1; Type=Erroneous gene model prediction;
Secondary accessions: O95614 Q96GD8

Explore the universe of human proteins at neXtProt for LAD1: NX_O00515

Explore proteomics data for LAD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LAD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005549.2  
    ENSEMBL proteins: 
     ENSP00000422687   ENSP00000375829   ENSP00000356282  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR017404 Ladinin_1

    Graphical View of Domain Structure for InterPro Entry O00515

    ProtoNet protein and cluster: O00515


    Find genes that share domains with LAD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LAD1_HUMAN, O00515
    Function: Anchoring filament protein which is a component of the basement membrane zone (By similarity)

         Genatlas biochemistry entry for LAD1:
    ladinin 1,59kDa,component of the basement membranes,expressed in keratinocytes

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS9119369
         
    Find genes that share ontologies with LAD1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for LAD1:
     Cell division defect  Decreased viability of wild-ty  Decreased viability with pacli  Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAD1
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    Selected qRT-PCR Assays for microRNAs that regulate LAD1 (see all 9):
    hsa-miR-4324 hsa-miR-361-5p hsa-miR-512-3p hsa-miR-1253 hsa-miR-3667-3p hsa-miR-374a* hsa-miR-544b hsa-miR-3622b-3p
    SwitchGear 3'UTR luciferase reporter plasmidLAD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LAD1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LAD1_HUMAN, O00515: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    nucleus3
    extracellular2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane IEA--
    GO:0015629actin cytoskeleton ----

    Find genes that share ontologies with LAD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LAD1
    Interactions:

        GeneGlobe Interaction Network for LAD1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for LAD1 (O005152, 3 ENSP000003758294) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319472, 3, ENSP000003409894MINT-3975007 I2D: score=2 STRING: ENSP00000340989
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    COL17A1Q9UMD93, ENSP000003409374I2D: score=1 STRING: ENSP00000340937
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LAD1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LAD1 gene: 
    NM_005558.3  

    Unigene Cluster for LAD1:

    Ladinin 1
    Hs.519035  [show with all ESTs]
    Unigene Representative Sequence: NM_005558
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503578 ENST00000391967(uc001gwm.3 uc009wzu.1) ENST00000367313
    ENST00000475136 ENST00000488842
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate LAD1 (see all 9):
    hsa-miR-4324 hsa-miR-361-5p hsa-miR-512-3p hsa-miR-1253 hsa-miR-3667-3p hsa-miR-374a* hsa-miR-544b hsa-miR-3622b-3p
    SwitchGear 3'UTR luciferase reporter plasmidLAD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LAD1
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      QuantiFast Probe-based Assays in human, mouse, rat LAD1

    Additional mRNA sequence: 

    AK310917.1 AK313388.1 BC009742.2 BC071890.1 BX647307.1 U42408.1 

    8 DOTS entries:

    DT.412588  DT.100732808  DT.100748997  DT.92430379  DT.95083505  DT.95244606  DT.100655158  DT.100754093 

    Selected AceView cDNA sequences (see all 143):

    BC009742 BM549092 BI092904 NM_005558 BM552193 BM817783 BG751236 AW079392 
    AA300230 AI888802 BM908787 AA552111 BM797503 CD364532 AW291547 BM792782 
    AI625947 BG403036 AA588706 BF914747 BG696264 AW081928 BX107960 BQ022579 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LAD1 (see all 7)    About this scheme

    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:        -     -     -     -                                                                                                         


    ECgene alternative splicing isoforms for LAD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LAD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAGGAGCT
    LAD1 Expression
    About this image


    LAD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Hair (Integumentary System)
             Bulge Stem Cells Bulge
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Brain (Nervous System)
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
     
     Colon (Gastrointestinal Tract)
    LAD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.519035
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for LAD1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lad11 , 5 ladinin1, 5 75.55(n)1
    69.18(a)1
      1 (59.30 cM)5
    167631  NM_133664.31  NP_598425.21 
     1358185985 
    chicken
    (Gallus gallus)
    Aves LAD16
    ladinin 1
    35(a)
    1 ↔ 1
    26(782938-787983)
    lizard
    (Anolis carolinensis)
    Reptilia LAD16
    ladinin 1
    31(a)
    1 ↔ 1
    4(131405997-131438908)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LAD1 gene
    1 SIMAP similar gene for LAD1 using alignment to 4 protein entries:     LAD1_HUMAN (see all proteins):
    DKFZp686M21196

    Find genes that share paralogs with LAD1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for LAD1
    PGOHUM00000234274


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LAD1 (see all 514)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1489406731,2
    --201349518(+) TCCTCA/GGCCCT 1 -- ds50010--------
    rs1159310761,2
    F--201349568(+) AACACT/CCACAA 1 -- ds50011Minor allele frequency- C:0.06WA 118
    rs66795781,2
    C,A--201349616(+) CAGGGC/ACCCCA 1 -- ds50019Minor allele frequency- A:0.00NA WA CSA 16
    rs576282121,2
    C,F--201349670(+) GAGGTG/AGGTCA 1 -- ds50016Minor allele frequency- A:0.11WA NA CSA 246
    rs1810465631,2
    --201349724(+) CTGTCC/TCCTGG 1 -- ds50010--------
    rs67039571,2
    C,F,A,H--201349725(+) TGTCCC/TCTGGG 1 -- ds500113Minor allele frequency- T:0.49NS EA NA WA 734
    rs787193851,2
    C,F--201349741(+) GATCTG/AAGGAG 1 -- ds50011Minor allele frequency- A:0.03NA 120
    rs454639931,2
    C--201349914(+) TGGCCA/GCATCC 1 -- ds50013Minor allele frequency- G:0.07CSA WA 121
    rs1859193541,2
    C--201349990(+) TGAAAA/CGTTGT 1 -- ut310--------
    rs1914770661,2
    --201350028(+) GCACCA/CGGCTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for LAD1 (201342372 - 201368736 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for LAD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508687CNV Loss20534489
    nsv832326CNV Loss17160897
    nsv832315CNV Loss17160897
    nsv467961CNV Gain19166990
    nsv470776CNV Gain18288195

    Human Gene Mutation Database (HGMD): LAD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LAD1
    DNA2.0 Custom Variant and Variant Library Synthesis for LAD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602314    OMIM disorders: --

    4 diseases for LAD1:    
    About MalaCards
    epidermolysis bullosa acquisita    linear iga disease    bullous pemphigoid    junctional epidermolysis bullosa

    1 disease from the University of Copenhagen DISEASES database for LAD1:
    Diabetes mellitus

    Find genes that share disorders with LAD1           About GenesLikeMe

    5 Novoseek inferred disease relationships for LAD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gabeb 88.8 2 9666845 (1), 9804354 (1)
    pemphigoid bullous 80.2 2 9666845 (1), 9665393 (1)
    pemphigoid cicatricial 73.7 1 9672190 (1)
    epidermolysis bullosa acquisita 73.5 2 16088162 (1), 9672190 (1)
    skin diseases 70.7 13 9804354 (2), 9886264 (1), 10397589 (1), 14870985 (1) (see all 9)


    Export disorders for LAD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LAD1 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with LAD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and chromosomal mapping of mouse ladinin, a novel basement membrane zone component. (PubMed id 9119369)1, 3 Motoki K....Uitto J. (Genomics 1997)
    2. LAD-1, the linear IgA bullous dermatosis autoantigen, is a novel 120- kDa anchoring filament protein synthesized by epidermal cells. (PubMed id 8618013)1, 3 Marinkovich M.P.... Zone J.J. (J. Invest. Dermatol. 1996)
    3. 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. (PubMed id 9804354)1, 9 Shimizu H....Nishikawa T. (J. Invest. Dermatol. 1998)
    4. 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. (PubMed id 9665393)1, 9 Ishiko A....Nishikawa T. (J. Invest. Dermatol. 1998)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. Calcium regulation of EGF-induced ERK5 activation: role of Lad1-MEKK2 interaction. (PubMed id 20830310)1 Yao Z....Seger R. (PLoS ONE 2010)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    10. Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer. (PubMed id 15778465)1 Benzinger A.... Hermeking H. (Mol. Cell. Proteomics 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3898 HGNC: 6472 AceView: LAD1 Ensembl:ENSG00000159166 euGenes: HUgn3898
    ECgene: LAD1 H-InvDB: LAD1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LAD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LAD1 gene:
    Search GeneIP for patents involving LAD1

    GeneCards and IP:
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