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LAD1 Gene

protein-coding   GIFtS: 57

GC01M199617
ladinin 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
LAD 3
LADA 3
Lad-1 3
LadA 2
MGC10355 2
OTTHUMP00000033878 2
Descriptions
Linear IgA disease antigen 3
ladinin 1 2
linear IgA bullous dermatosis antigen 2
linear IgA disease antigen homolog 2
External Ids
HGNC: 64721
Entrez Gene: 38982
UniProtKB: O005153
Ensembl: ENSG000001591667
Search outside databases for aliases for LAD1 gene

Previous GC identifers: GC01P199048 GC01P196782 GC01M197816 GC01M198638 GC01M198081

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the LAD1 gene  

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)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M199617:     (about GC identifiers)

Start:
199,616,589 bp from pter
End:
199,635,353 bp from pter
Size:
18,765 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_005549.2  

    ENSEMBL proteins: 
    ENSP00000356282 ENSP00000375829 ENSP00000356283 


    Human Recombinant Proteins 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (LAD1)
    Human Recombinant Proteins from Abnova (LAD1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005604 basement membrane IEA--
    About this table

    Antibodies for LAD1: 
    Browse Antibodies Central at Invitrogen
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    Sigma-Aldrich Antibodies for LAD1
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    Antibodies from Abcam (LAD1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (LAD1)
    Novus Biologicals Antibody for LAD1

    Assays for LAD1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR017404 Ladinin_1


       GeneDecks  LAD1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O00515

    ProtoNet protein and cluster: O00515

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (LAD1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005558

                  Applied Biosystems Silencer® siRNAs for LAD1

                  Sigma-Aldrich siRNA for LAD1  
                         Sigma-Aldrich shRNA Panels and shRNA for LAD1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for LAD1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_005558
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_005558
                                     untagged cDNA clone in CMV expression vector: NM_005558 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_005558

    UniProtKB/Swiss-Prot: 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

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198 structural molecule activity TAS9119369
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  LAD1 


    5/12 Interacting proteins for LAD1 (O005152 ENSP000003562823) via UniProtKB, MINT, and/or STRING (see all 12 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319472MINT-3975007
    GAD2ENSP000002592713STRING (score=.935)
    PTPRNENSP000002957183STRING (score=.856)
    COL17A1ENSP000003409373STRING (score=.851)
    INSENSP000003707313STRING (score=.819)
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for LAD1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (LAD1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005558

                  Sigma-Aldrich siRNA for LAD1  
                         Sigma-Aldrich shRNA Panels and shRNA for LAD1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_005558  

    REFSEQ mRNAs for LAD1 gene: 

    NM_005558.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_005558  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_005558
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_005558
                                     untagged cDNA clone in CMV expression vector: NM_005558 

    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 ):

    BF914747 BM792782 BI092904 AW081928 AI625947 BM552193 BC009742 NM_005558 
    CD364532 AA552111 AW291547 BM549092 BG403036 BG696264 BM908787 BQ022579 
    AW079392 BM852860 BM794531 BM797503 AW572265 BM817783 AI888802 AA300230 

    highest scoring ESTs for LAD1:

    U42408 BC009742 BC071890 BG540063 BI759430 BM794531 BM854604 BX479962 BX647307 AA159477 

    Unigene Cluster for LAD1:

    Ladinin 1
    Hs.519035  [show with all ESTs]
    Unigene Representative Sequence: NM_005558


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for LAD1 (see all 7 )

    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:        -     -     -     -                                                                                                         

    About this scheme

    ECgene alternative splicing isoforms for LAD1

    3 Ensembl transcripts including schematic representations:
    ENST00000367313  ENST00000391967  ENST00000367314  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    LAD1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for LAD1

    1 / 2 / 3

    5 probe-sets matching LAD1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    33282_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 U42408 1.00 1.00 1.00 1

    203287_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005558 0.60 1.00 0.82 1

    216641_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    203287_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    216641_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  LAD1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GCCAGGAGCT

    SOURCE GeneReport for Unigene cluster: Hs.519035

    Expression variation in blood from EXPOLDB for LAD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for LAD1 gene from 5 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    LAD11   -- ladinin 1 76.77(n)
    69.68(a)
    607639  XM_844397.1  XP_849490.1 
    chimpanzee
    (Pan troglodytes)
    LAD11   -- ladinin 1 99.01(n)
    98.61(a)
    738395  XM_001146715.1  XP_001146715.1 
    rat
    (Rattus norvegicus)
    Lad11   -- ladinin 1 76.1(n)
    71.49(a)
    313325  XM_233122.4  XP_233122.4 
    mouse
    (Mus musculus)
    Lad11, 5 15
    ladinin1, 5 75.55(n)1
    69.18(a)1
    167631  NM_133664.31  NP_598425.21 
     AA6889305  AK0835265  (see all 12)
    chicken
    (Gallus gallus)
    LAD11   -- ladinin 1 51(n)
    42.34(a)
    421160  XM_419241.2  XP_419241.2 
    About this table        Species with no ortholog for LAD1

    ENSEMBL Gene Tree for LAD1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/140 NCBI SNPs in LAD1 are shown (see all 140 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 104)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs27191771,2
    A,C,F,H199635871(+) TCCCCG/AAGGAA 1 -- ng31 tfbs34Minor allele frequency- A:0.29EU EA WA 412
    rs27996851,2
    A,C,F,H199635902(-) AATTCA/GAGTCC 1 -- ng314Minor allele frequency- G:0.50EU EA WA 420
    rs27191781,2
    A,C,F,H199636870(+) CGAAGC/GCAGGA 1 -- ng314Minor allele frequency- G:0.44EU EA WA 420
    rs168484931,2
    C,F,H199616705(+) ATGCTC/TCAAGC 1 -- ut3111Minor allele frequency- T:0.06NA EU EA WA 978
    rs118059721,2
    C,F,H199622276(+) GGGCCG/TGCTTA 1 P/Q mis1 ese38Minor allele frequency- T:0.10EU EA WA 840
    rs120887901,2
    C,F,H199622384(+) GGGCCA/GGCGAC 1 L/P mis1 ese38Minor allele frequency- G:0.13EU EA WA 836
    rs27996831,2
    A,C,H199637209(-) GAGAGG/ACTGGC 1 -- ng314Minor allele frequency- A:0.00EU EA WA 420
    rs22758661,2
    C,F,H199618044(-) AGAGGA/TCTCAG 1 T/S mis1 ese310Minor allele frequency- T:0.06EA EU WA NA 2408
    rs41284581,2
    C,F,H199622145(+) CTGCTC/TTGCCA 1 K/E mis16Minor allele frequency- T:0.37EU EA WA NA 594
    rs168484941,2
    C,F,H199617606(+) TGAGAC/TGAAGA 1 -- ut31 ese37Minor allele frequency- T:0.04NA EU EA WA 558
    About this table

    HapMap Linkage Disequilibrium images for LAD1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 602314

    5 Novoseek disease relationships for LAD1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    gabeb 88.75 2 9666845 (1), 9804354 (1)
    pemphigoid bullous 80.67 2 9666845 (1), 9665393 (1)
    epidermolysis bullosa acquisita 74.27 2 16088162 (1), 9672190 (1)
    pemphigoid cicatricial 73.79 1 9672190 (1)
    skin diseases 71.46 13 9804354 (2), 9886264 (1), 10397589 (1), 14870985 (1) (see all 9)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/26 PubMed articles for LAD1 gene (see all 26 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 3898 HGNC: 6472 AceView: LAD1 Ensembl:ENSG00000159166 euGenes: HUgn3898
    ECgene: LAD1 H-InvDB: LAD1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for LAD1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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