MADCAM1 (mucosal vascular addressin cell adhesion molecule 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8174
Gene name Mucosal vascular addressin cell adhesion molecule 1
Gene symbol MADCAM1
Synonyms (NCBI Gene)
MACAM1
Chromosome 19
Chromosome location 19p13.3
Summary 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 infl
miRNA miRNA information provided by mirtarbase database.
15
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
miRTarBase ID miRNA Experiments Reference
MIRT1125103 hsa-miR-297 CLIP-seq
MIRT1125104 hsa-miR-380 CLIP-seq
MIRT1125105 hsa-miR-4495 CLIP-seq
MIRT1125106 hsa-miR-548n CLIP-seq
MIRT1125107 hsa-miR-567 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
Transcription factor Regulation Reference
BTF3 Repression 17312387
NFKB1 Unknown 15483224
RELA Unknown 15483224
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002687 Process Positive regulation of leukocyte migration IBA
GO:0005886 Component Plasma membrane TAS
GO:0006955 Process Immune response TAS 8502297
GO:0007155 Process Cell adhesion IEA
GO:0007155 Process Cell adhesion TAS 8502297
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
102670 6765 ENSG00000099866
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13477
Protein name Mucosal addressin cell adhesion molecule 1 (MAdCAM-1) (hMAdCAM-1)
Protein 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, regula
PDB 1BQS , 1GSM , 4HBQ , 4HC1 , 4HCR , 4HD9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09085 Adhes-Ig_like 113 → 224 Adhesion molecule, immunoglobulin-like Domain
Tissue specificity 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
Sequence 
MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQW
RGLDTSLGAVQSDTGRSVLTVRNASLSAAGTRVCVGSCGGRTFQHTVQLLVYAFPDQLTV
SPAALVPGDPEVACTAHKVTPVDPNALSFSLLVGGQELEGAQALGPEVQEEEEEPQGDED
VLFRVTERWRLPPLGTPVPPALYCQATMRLPGLELSHRQAIPVLHSPTSPEPPDTTSPES
PDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGP
TQGEVIPTGSSKPAGDQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLR
LLPQVSAWAGLRGTGQVGISPS
Sequence length 382
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cell adhesion molecules
Intestinal immune network for IgA production 		  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Integrin cell surface interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLITIS — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (46)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anhydrotic Ectodermal Dysplasias Hypohidrotic ectodermal dysplasia BEFREE 12060722
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 39481220 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 31114574
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 22509265, 29967615
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 22509265 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 24602001 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 28754163
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholangitis Sclerosing Sclerosing cholangitis Pubtator 11943728, 15557349 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Christ-Siemens-Touraine syndrome Hypohidrotic Ectodermal Dysplasia, X-Linked BEFREE 12060722
★★★★★
★☆☆☆☆
Found in Text Mining only
Colitis Colitis Pubtator 12625840 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations