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MADCAM1 Gene

protein-coding   GIFtS: 53

GC19P000450
mucosal vascular addressin cell adhesion molecule 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
MACAM1 1, 2
MAdCAM-1 3
hMAdCAM-1 3
Descriptions
mucosal addressin cell adhesion molecule-1 2
mucosal vascular addressin cell adhesion molecule 1 2
External Ids
HGNC: 67651
Entrez Gene: 81742
UniProtKB: Q134773
Ensembl: ENSG000000998667
Search outside databases for aliases for MADCAM1 gene

Previous GC identifers: GC19P000507 GC19P000531 GC19P000436 GC19P000448 GC19P000449

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

EntrezGene summary for MADCAM1:
The protein encoded by this gene is an endothelial cell adhesion molecule that interacts
preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4
(alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a
member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven
alternatively spliced transcripts encoding different protein isoforms have been found for this
gene, but the full-length nature of some variants has not been determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: MADCA_HUMAN, Q13477
Function: Cell adhesion leukocyte receptor expressed by mucosal venules, helps to direct lymphocyte
traffic into mucosal tissues including the Peyer patches and the intestinal lamina propria. It can
bind both integrin alpha-4/beta-7 and L-selectin, regulating both the passage and retention of
leukocytes. Isoform 2, lacking the mucin-like domain, may be specialized in supporting integrin
alpha-4/beta-7-dependent adhesion strengthening, independent of L-selectin binding

(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)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MADCAM1 gene  

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

MADCAM1 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 19         GeneLoc Exon Structure

GeneLoc location for GC19P000450:     (about GC identifiers)

Start:
447,490 bp from pter
End:
456,343 bp from pter
Size:
8,854 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000019.8  NT_011255.14  
(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: MADCA_HUMAN, Q13477 (See protein sequence)
Recommended Name: Mucosal addressin cell adhesion molecule 1 precursor  
Size: 382 amino acids; 40155 Da
Subunit: Homodimer (Probable)
Subcellular location: Membrane; Single-pass type I membrane protein
PDB structure from and Proteopedia :
1BQS (3D)    1GSM (3D)    
Secondary accessions: A5PKV4 O60222 O75867
Alternative splicing: 2 isoforms:  Q13477-1   Q13477-2   (Additional isoforms seem to exist)

Post-translational modifications:

  • The Ser/Thr-rich mucin-like domain may provide possible sites for O-glycosylation (By similarity)1


  • REFSEQ proteins (2 alternative transcripts): 
    NP_570116.2  NP_570118.1  


    ENSEMBL proteins: 
    ENSP00000346203 ENSP00000372131 ENSP00000215637 ENSP00000304247 ENSP00000372130 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (MAdCAM1)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624 membrane fraction TAS8502297
    GO:0005886 plasma membrane EXP12588680
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for MADCAM1: 
    Invitrogen Antibodies for MADCAM1
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    R&D Systems Antibodies for MADCAM1 (MAdCAM-1)
    Antibodies from Abcam (MAdCAM1), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for MADCAM1

    Assays for MADCAM1: 
    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

    4 InterPro domains/families:
     IPR007110 Ig-like
     IPR015169 Adhes-Ig-like
     IPR003599 Ig_sub
     IPR013783 Ig-like_fold


       GeneDecks  MADCAM1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q13477

    ProtoNet protein and cluster: Q13477

    1 Blocks protein family: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: MADCA_HUMAN, Q13477
    Similarity: Contains 2 Ig-like (immunoglobulin-like) domains

    (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 (MADCAM1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_130760

                  Applied Biosystems Silencer® siRNAs for MADCAM1

                  Sigma-Aldrich siRNA for MADCAM1  
                         Sigma-Aldrich shRNA Panels and shRNA for MADCAM1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_130760
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_130760
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_130760 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_130760

    UniProtKB/Swiss-Prot: MADCA_HUMAN, Q13477
    Function: Cell adhesion leukocyte receptor expressed by mucosal venules, helps to direct lymphocyte
    traffic into mucosal tissues including the Peyer patches and the intestinal lamina propria. It can
    bind both integrin alpha-4/beta-7 and L-selectin, regulating both the passage and retention of
    leukocytes. Isoform 2, lacking the mucin-like domain, may be specialized in supporting integrin
    alpha-4/beta-7-dependent adhesion strengthening, independent of L-selectin binding

    Genatlas biochemistry entry for MADCAM1:
    mucosal vascular addressin cell adhesion molecule 1,ligand for leukocyte B7 integrin (LPAM-1) L
    selectin,VLA-4 on myeloid cells,with two alternatively spliced forms,homing leukocytes to mucosal
    inflammed tissues

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IEA--
    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


    1 Kegg Pathway  (Kegg details for MADCAM1):
     hsa04514 Cell adhesion molecules (CAMs)

       GeneDecks  MADCAM1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  MADCAM1 


    5/29 Interacting proteins for MADCAM1 (ENSP000003462033) via UniProtKB, MINT, and/or STRING (see all 29 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGA4ENSP000002335733STRING (score=.999)
    ITGB7ENSP000002670823STRING (score=.99)
    NKX2-3ENSP000003428283STRING (score=.987)
    SELLENSP000002361473STRING (score=.973)
    LTBRENSP000002289183STRING (score=.965)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955 immune response TAS8502297
    GO:0007155 cell adhesion TAS8502297
    GO:0007165 signal transduction TAS8502297
    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 MADCAM1
    5 Novoseek chemical compound relationships for MADCAM1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tripeptide 36.29 2 9873398 (1), 11573247 (1)
    rantes 28.26 1 12537753 (1)
    manganese 2.70 3 7512373 (2), 12699089 (1)
    sulfate 0.02 1 9466573 (1)
    nitric oxide 0.00 1 11481030 (1)
    About this table


    (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 (MADCAM1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_130760

                  Sigma-Aldrich siRNA for MADCAM1  
                         Sigma-Aldrich shRNA Panels and shRNA for MADCAM1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_130760  NM_130762  

    REFSEQ mRNAs for MADCAM1 gene (2 alternative transcripts): 

    NM_130760.2   NM_130762.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_130760  NM_130762  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_130760
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_130760
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_130760 

    Additional cDNA sequence: 

    AK092211.1 AY732484.1 AY819760.1 BC136408.1 BC137506.1 BC137507.1 BC142629.1 BC144065.1 
    DQ076657.1 U43628.1 U82483.1 

    4 DOTS entries:

    DT.409211  DT.92360074  DT.99932820  DT.99965995 

    18 AceView cDNA sequences:

    NM_130762 AI131233 BI821776 AW340299 AA678836 AA928768 BM702750 NM_130760 
    U82483 AA668527 U43628 AA705935 NM_130761 AK092211 AW340202 T54621 
    T54705 BE173884 

    highest scoring ESTs for MADCAM1:

    AA668527 AA705935 AK092211 AW340202 BM702750 U43628 U82483 AA928768 AI131233 AW340299 

    Unigene Cluster for MADCAM1:

    Mucosal vascular addressin cell adhesion molecule 1
    Hs.102598  [show with all ESTs]
    Unigene Representative Sequence: AK092211


    GeneLoc Exon Structure

    5 Ensembl transcripts including schematic representations:
    ENST00000354255  ENST00000382684  ENST00000215637  ENST00000346144  ENST00000382683  
    (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

    MADCAM1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MADCAM1

    1 / 2 / 3

    3 probe-sets matching MADCAM1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    34429_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AC005775 0.20 1.00 0.72 1

    208037_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_007164 0.20 1.00 0.72 1

    208037_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TCTCACGTCT

    SOURCE GeneReport for Unigene cluster: Hs.102598

    Expression variation in blood from EXPOLDB for MADCAM1

    UniProtKB/Swiss-Prot: MADCA_HUMAN, Q13477
    Tissue specificity: Highly expressed on high endothelial venules (HEV) and lamina propia venules
    found in the small intestine, and to a lesser extent in the colon and spleen. Very low levels of
    expression found in pancreas and brain. Not expressed in the thymus, prostate, ovaries, testis,
    heart, placenta, lung, liver, skeletal muscle, kidneys or peripheral blood leukocytes

    (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 MADCAM1 gene from 3 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    MADCAM11   -- mucosal vascular addressin cell adhesion molecule 1 69.54(n)
    61.42(a)
    485103  NM_001024639.1  NP_001019810.1 
    rat
    (Rattus norvegicus)
    Madcam11   -- mucosal vascular addressin cell adhesion molecule 1 62.9(n)
    56.27(a)
    54266  NM_019317.1  NP_062190.1 
    mouse
    (Mus musculus)
    Madcam11, 5 10 (43.00 cM)5
    mucosal vascular addressin cell adhesion molecule 11, 5 63.09(n)1
    53.04(a)1
    171231  NM_013591.11  NP_038619.11 
     AK1370285  AK1560965  (see all 15)
    About this table        Species with no ortholog for MADCAM1

    ENSEMBL Gene Tree for MADCAM1
    (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

    UniProtKB/Swiss-Prot: MADCA_HUMAN, Q13477
    Polymorphism: The number of repeats in the mucin domain varies between 5 and 8 repeats


    10/70 NCBI SNPs in MADCAM1 are shown (see all 70 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 34)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 19 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7585031,2
    A,C,F,H446722(+) CAGGGG/TGCCTC 2 -- ng516Minor allele frequency- T:0.33EU EA WA NA 598
    rs7585021,2
    A,C,F446600(+) CAGGCT/CTGCTA 2 -- ng513Minor allele frequency- C:0.47MN NA 366
    --
    rs11408231,2
    A,C,F456071(+) ctctgT/Ctcaca 2 -- ut31 ese31Minor allele frequency- C:0.41MN 184
    rs37459251,2
    C,F,H452900(-) GCGTGG/TGCCCA 2 P/H mis1 int1 ese35Minor allele frequency- T:0.30EA EU WA 1880
    --
    rs96531341,2
    A445574(+) CACCCC/TGGGCC 2 -- ng510--------
    rs72465431,2
    A,C,F,H455830(+) CCCACC/GTATCA 2 T/T syn15Minor allele frequency- G:0.26EU EA WA NA 484
    rs23022171,2
    A,C,F449524(+) TCCCCG/AGCAGC 2 P/P syn1 ese36Minor allele frequency- A:0.35EA NA 1820
    rs129826461,2
    C,F,H450978(+) ACCCGG/AGAGGT 2 -- int14Minor allele frequency- A:0.11EU EA WA 420
    rs65108101,2
    A,C,F451359(+) CTCAGC/TTTCCT 2 -- int12Minor allele frequency- T:0.17EA 180
    --
    rs23928011,2
    A,C454917(+) gtggcA/Gtgtgc 2 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for MADCAM1 (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: 102670

    10/16 Novoseek disease relationships for MADCAM1 gene (see all 16 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    inflammatory bowel diseases 67.20 20 11472325 (5), 10562584 (2), 11343233 (2), 11481030 (1) (see all 8)
    colitis 49.07 4 16917232 (2), 12625840 (1)
    ileitis 46.65 3 16401463 (2), 15699171 (1)
    inflammation 43.59 20 10661685 (2), 9036954 (2), 16401463 (2), 10562584 (1) (see all 12)
    malt lymphoma 42.31 2 11504840 (1), 14669317 (1)
    lymphoma t-cell 40.49 1 10508262 (1)
    lymphoma low-grade 40.30 1 11504840 (1)
    cholangitis primary sclerosing 35.46 5 11343233 (3), 16750586 (2)
    colitis ulcerative 32.07 3 9212736 (1), 19067429 (1), 9214052 (1)
    lymphoma 31.49 2 7517418 (1), 7687523 (1)
    About this table

    Human Genome Epidemiology Navigator: MADCAM1 (2 documents)

    (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

    10/134 PubMed articles for MADCAM1 gene (see all 134 ):
    (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: 8174 HGNC: 6765 AceView: MADCAM1 Ensembl:ENSG00000099866 euGenes: HUgn8174
    ECgene: MADCAM1 H-InvDB: MADCAM1
    (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 MADCAM1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for MADCAM1 Browse small molecules at Sigma-Aldrich
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