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Aliases for MADCAM1 Gene

Aliases for MADCAM1 Gene

  • Mucosal Vascular Addressin Cell Adhesion Molecule 1 2 3 5
  • HMAdCAM-1 3 4
  • MAdCAM-1 3 4
  • Mucosal Addressin Cell Adhesion Molecule-1 2
  • Mucosal Addressin Cell Adhesion Molecule 1 3
  • MACAM1 3

External Ids for MADCAM1 Gene

Previous GeneCards Identifiers for MADCAM1 Gene

  • GC19P000507
  • GC19P000531
  • GC19P000436
  • GC19P000448
  • GC19P000449
  • GC19P000450
  • GC19P000266

Summaries for MADCAM1 Gene

Entrez Gene Summary for MADCAM1 Gene

  • 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, Jul 2008]

GeneCards Summary for MADCAM1 Gene

MADCAM1 (Mucosal Vascular Addressin Cell Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with MADCAM1 include Colitis and Inflammatory Bowel Disease. Among its related pathways are Allograft rejection and Innate Immune System. Gene Ontology (GO) annotations related to this gene include integrin binding involved in cell-matrix adhesion.

UniProtKB/Swiss-Prot for MADCAM1 Gene

  • 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.

Gene Wiki entry for MADCAM1 Gene

Additional gene information for MADCAM1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MADCAM1 Gene

Genomics for MADCAM1 Gene

GeneHancer (GH) Regulatory Elements for MADCAM1 Gene

Promoters and enhancers for MADCAM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I000487 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 562.8 -0.3 -332 2.7 HDGF SMAD1 ARNT ARID4B SIN3A POLR2B ZNF766 ZNF207 ZNF143 SP3 MADCAM1 DAZAP1 TMEM259 SHC2 LOC105372232 MIER2 PTBP1 MED16 ENSG00000267317 RNF126
GH19I000493 Promoter/Enhancer 1.6 EPDnew ENCODE dbSUPER 555 +5.7 5653 3.6 ATF1 ARID4B ZNF48 ZNF280A GTF3C2 GLIS2 ZNF143 KLF7 ATF7 ZNF202 MADCAM1 TMEM259 PTBP1 DAZAP1 CIRBP MED16 LOC105372232 ENSG00000267317 SHC2 MIER2
GH19I000506 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6.4 +18.4 18419 2.7 PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 LOC105372232 TPGS1 DAZAP1 MIER2 MADCAM1 C2CD4C
GH19I000491 Enhancer 1 Ensembl dbSUPER 13 +2.7 2725 1 DRAP1 TFAP4 SAP130 ARID4B DNMT3B ZNF48 ZSCAN9 RARA POLR2A VEZF1 MADCAM1 C19orf25 LOC105372232 TPGS1
GH19I000510 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.6 +22.6 22636 3.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 CBX5 GZMM TPGS1 MADCAM1 RNF126 LOC105372232 CDC34
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MADCAM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MADCAM1 gene promoter:

Genomic Locations for MADCAM1 Gene

Genomic Locations for MADCAM1 Gene
chr19:489,176-505,343
(GRCh38/hg38)
Size:
16,168 bases
Orientation:
Plus strand
chr19:489,176-505,347
(GRCh37/hg19)

Genomic View for MADCAM1 Gene

Genes around MADCAM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MADCAM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MADCAM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MADCAM1 Gene

Proteins for MADCAM1 Gene

  • Protein details for MADCAM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13477-MADCA_HUMAN
    Recommended name:
    Mucosal addressin cell adhesion molecule 1
    Protein Accession:
    Q13477
    Secondary Accessions:
    • A5PKV4
    • B2RPL9
    • O60222
    • O75867
    • Q5UGI7

    Protein attributes for MADCAM1 Gene

    Size:
    382 amino acids
    Molecular mass:
    40155 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MADCAM1 Gene

    Alternative splice isoforms for MADCAM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MADCAM1 Gene

Post-translational modifications for MADCAM1 Gene

  • The Ser/Thr-rich mucin-like domain may provide possible sites for O-glycosylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MADCAM1 Gene

Domains & Families for MADCAM1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MADCAM1: view

No data available for UniProtKB/Swiss-Prot for MADCAM1 Gene

Function for MADCAM1 Gene

Molecular function for MADCAM1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MADCAM1 Gene

Gene Ontology (GO) - Molecular Function for MADCAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0098640 integrin binding involved in cell-matrix adhesion IEA,IDA 23986478
genes like me logo Genes that share ontologies with MADCAM1: view
genes like me logo Genes that share phenotypes with MADCAM1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MADCAM1

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MADCAM1 Gene

Localization for MADCAM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MADCAM1 Gene

Membrane; Single-pass type I membrane protein.

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 MADCAM1 gene
Compartment Confidence
plasma membrane 5
extracellular 2

Gene Ontology (GO) - Cellular Components for MADCAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,TAS 8502297
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MADCAM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MADCAM1 Gene

Pathways & Interactions for MADCAM1 Gene

genes like me logo Genes that share pathways with MADCAM1: view

Gene Ontology (GO) - Biological Process for MADCAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002687 positive regulation of leukocyte migration IBA --
GO:0006955 immune response TAS 8502297
GO:0007155 cell adhesion IEA,TAS 8502297
GO:0007160 cell-matrix adhesion IDA,IEA 18308860
GO:0007165 signal transduction TAS 8502297
genes like me logo Genes that share ontologies with MADCAM1: view

No data available for SIGNOR curated interactions for MADCAM1 Gene

Drugs & Compounds for MADCAM1 Gene

(5) Drugs for MADCAM1 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vedolizumab Approved Pharma 69
Gastrointestinal Agents Pharma 8904

(6) Additional Compounds for MADCAM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MADCAM1: view

Transcripts for MADCAM1 Gene

mRNA/cDNA for MADCAM1 Gene

Unigene Clusters for MADCAM1 Gene

Mucosal vascular addressin cell adhesion molecule 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MADCAM1 Gene

No ASD Table

Relevant External Links for MADCAM1 Gene

GeneLoc Exon Structure for
MADCAM1
ECgene alternative splicing isoforms for
MADCAM1

Expression for MADCAM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MADCAM1 Gene

mRNA differential expression in normal tissues according to GTEx for MADCAM1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x7.1).

Protein differential expression in normal tissues from HIPED for MADCAM1 Gene

This gene is overexpressed in Plasma (34.5), Urine (14.2), and Neutrophil (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MADCAM1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MADCAM1 Gene:

MADCAM1

SOURCE GeneReport for Unigene cluster for MADCAM1 Gene:

Hs.102598

mRNA Expression by UniProt/SwissProt for MADCAM1 Gene:

Q13477-MADCA_HUMAN
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, kidney or peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for MADCAM1 Gene

  • Lymph node(4.4)
  • Nervous system(4)
  • Intestine(3.1)
  • Blood(2.3)
  • Spleen(2.3)
genes like me logo Genes that share expression patterns with MADCAM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MADCAM1 Gene

Orthologs for MADCAM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MADCAM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MADCAM1 34
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MADCAM1 34
  • 52 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MADCAM1 34
  • 45 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Madcam1 34
  • 42 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MADCAM1 34
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves MADCAM1 34
  • 22 (a)
OneToOne
Species where no ortholog for MADCAM1 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 MADCAM1 Gene

ENSEMBL:
Gene Tree for MADCAM1 (if available)
TreeFam:
Gene Tree for MADCAM1 (if available)

Paralogs for MADCAM1 Gene

No data available for Paralogs for MADCAM1 Gene

Variants for MADCAM1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MADCAM1 Gene

MADCA_HUMAN-Q13477
The number of repeats in the mucin domain varies between 5 and 8 repeats.

Sequence variations from dbSNP and Humsavar for MADCAM1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000104932 -- 499,991(+) G/C intron_variant
rs1000238804 -- 497,817(+) G/C intron_variant
rs1000541929 -- 503,516(+) G/A intron_variant
rs1001469734 -- 501,550(+) C/A intron_variant
rs1001672527 -- 497,367(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MADCAM1 Gene

Variant ID Type Subtype PubMed ID
dgv1013e212 CNV gain 25503493
dgv1673n106 CNV deletion 24896259
dgv6155n54 CNV loss 21841781
dgv6161n54 CNV loss 21841781
dgv6162n54 CNV gain+loss 21841781
dgv6163n54 CNV gain 21841781
dgv6164n54 CNV loss 21841781
dgv6165n54 CNV gain+loss 21841781
esv28250 CNV gain+loss 19812545
esv33417 CNV gain+loss 17666407
esv3373423 CNV insertion 20981092
esv3574264 CNV gain 25503493
nsv1071483 CNV deletion 25765185
nsv428360 CNV gain 18775914
nsv470101 CNV loss 18288195
nsv509712 CNV insertion 20534489
nsv516566 CNV gain 19592680
nsv577978 CNV gain 21841781
nsv578100 CNV gain 21841781
nsv578113 CNV loss 21841781
nsv578114 CNV gain 21841781
nsv953938 CNV deletion 24416366

Variation tolerance for MADCAM1 Gene

Gene Damage Index Score: 4.18; 61.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MADCAM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MADCAM1

Disorders for MADCAM1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MADCAM1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MADCAM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MADCAM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MADCAM1 Gene

Publications for MADCAM1 Gene

  1. Genomic organization, chromosomal mapping, and analysis of the 5' promoter region of the human MAdCAM-1 gene. (PMID: 9162097) Leung E … Krissansen GW (Immunogenetics 1997) 2 3 4 22 58
  2. Human mucosal addressin cell adhesion molecule-1 (MAdCAM-1) demonstrates structural and functional similarities to the alpha 4 beta 7-integrin binding domains of murine MAdCAM-1, but extreme divergence of mucin-like sequences. (PMID: 8609404) Shyjan AM … Briskin MJ (Journal of immunology (Baltimore, Md. : 1950) 1996) 2 3 4 22 58
  3. Possible impact of MADCAM1 gene single nucleotide polymorphisms to the outcome of allogeneic hematopoietic stem cell transplantation. (PMID: 19286444) Ambruzova Z … Petrek M (Human immunology 2009) 3 22 44 58
  4. Analysis of MAdCAM-1 and ICAM-1 polymorphisms in 365 Scandinavian patients with primary sclerosing cholangitis. (PMID: 16750586) Bowlus CL … Boberg KM (Journal of hepatology 2006) 3 22 44 58
  5. A reassessment of the MAdCAM-1 structure and its role in integrin recognition. (PMID: 11807247) Dando J … Brady RL (Acta crystallographica. Section D, Biological crystallography 2002) 3 4 22 58

Products for MADCAM1 Gene

Sources for MADCAM1 Gene

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