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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LAD1 Gene

protein-coding   GIFtS: 53
GCID: GC01M201349

ladinin 1

 Explore 11 diseases affiliated with
LAD1 via our new
 Human Malady Compendium 
Biological research products
for LAD1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ladinin 11 2     Linear IgA Disease Antigen Homolog2
LadA2     LAD3
Lad-13     LADA3
Ladinin-11     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 GC01M172516


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LAD1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for LAD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC01M201349:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LAD1_HUMAN, O00515 (See protein sequence)
Recommended Name: Ladinin-1  
Size: 517 amino acids; 57131 Da
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00515

  • LAD1 Protein expression data from MOPED and PaxDb:    About this image 
    LAD1 Protein Expression
    REFSEQ proteins: NP_005549.2  
    ENSEMBL proteins: 
     ENSP00000422687   ENSP00000375829   ENSP00000356282  

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    Uscn Proteins for LAD1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    LAD1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    LAD1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR017404 Ladinin_1

    Graphical View of Domain Structure for InterPro Entry O00515

    ProtoNet protein and cluster: O00515


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS9119369
         
    LAD1 for ontologies           About GeneDecksing


    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 - Customizable classic, inducible, and humanized mouse model solutions for LAD1 

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    SwitchGear 3'UTR luciferase reporter plasmidLAD1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LAD1
    Search CenterWatch for drugs/clinical trials and news about LAD1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    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
    Products:
         
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    Additional cDNA sequence: 

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

    6 DOTS entries:

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

    24/143 AceView cDNA sequences (see all 143):

    AW572265 AA588706 NM_005558 CD364532 BQ022579 BI092904 AW081928 BX107960 
    BG751236 BF914747 BM792782 AI625947 BG696264 BG403036 AA300230 AW291547 
    AA552111 AW079392 BM852860 BM549092 BC009742 AI888802 BM552193 BM817783 

    GeneLoc Exon Structure

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LAD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCAGGAGCT
    LAD1 Expression
    About this image

    LAD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSertoli cellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

    See LAD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LAD1

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAD1

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for LAD1 gene from 3/8 species (see all 8)    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
    Uncharacterized protein
    45(a)
    1 ↔ 1
    26(776460-782960)
    lizard
    (Anolis carolinensis)
    Reptilia LAD16
    --
    46(a)
    1 ↔ 1
    4(131409069-131417051)


    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)
    About This Section
    Paralogs for LAD1 gene
    1 SIMAP similar gene for LAD1 using alignment to 4 protein entries:     LAD1_HUMAN (see all proteins):
    DKFZp686M21196

    LAD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for LAD1
    PGOHUM00000234274


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/402 NCBI SNPs in LAD1 are shown (see all 402    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2003751531,2
    C--172532980(-) CTTATA/GTNNNN 1 -- us2k10--------
    rs1138326071,2
    C--172533275(+) GCGATA/GAGCTG 1 -- us2k10--------
    rs787999831,2
    F--172533767(+) GATGTC/TCAGCA 1 -- us2k11Minor allele frequency- T:0.05EA 120
    rs559149491,2
    --172533918(+) GCGTCC/TTTAGT 1 -- us2k10--------
    rs1135150931,2
    --172534939(+) GTTAGA/C/GGCAGG 2 -- nc-transcript-variant1CSA 1
    rs67003321,2
    C,F--172535555(+) CAGGAT/GGAGAA 1 -- int11Minor allele frequency- G:0.26WA 118
    rs773593161,2
    F--172536013(+) CTCCAG/AGGAGT 1 -- nc-transcript-variant1Minor allele frequency- A:0.04WA 118
    rs747771091,2
    F--172536200(+) ACACCT/CCAACA 1 -- nc-transcript-variant1Minor allele frequency- C:0.03WA 118
    rs2011187361,2
    C--172536306(-) GGCTGG/TTAGAT 1 -- nc-transcript-variant0--------
    rs120721561,2
    C,F--172536446(+) GGATAC/TTTTCT 1 -- nc-transcript-variant1Minor allele frequency- T:0.25WA 118

    HapMap Linkage Disequilibrium report for LAD1 (201342372 - 201368736 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for LAD1: --

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    LAD1 for disorders           About GeneDecksing

    OMIM gene information: 602314    OMIM disorders: --

    11 diseases for LAD1:    About MalaCards
    epidermolysis bullosa acquisita    epidermolysis bullosa    linear iga disease    junctional epidermolysis bullosa
    cicatricial pemphigoid    bullous pemphigoid    b-cell lymphomas    basal cell carcinoma
    skin disease    ovarian cancer    carcinoma

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

    5 Novoseek 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)
    About This Section

    PubMed articles for LAD1 gene, integrated from 9 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 n ovel basement membrane zone component. (PubMed id 9119369)1, 3 Motoki K....Uitto J. (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. (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. (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. (1998)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (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. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Calcium regulation of EGF-induced ERK5 activation: ro le of Lad1-MEKK2 interaction. (PubMed id 20830310)1 Yao Z....Seger R. (2010)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (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. (2005)

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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, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for LAD1 Pharmacogenomics, SNPs, Pathways

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