• Gene id: 8174

Gene Summary

• Gene Symbol: MADCAM1   Gene   UCSC   Ensembl
• Aliases: MACAM1
• Gene name: mucosal vascular addressin cell adhesion molecule 1
• Alternate names: mucosal addressin cell adhesion molecule 1, MAdCAM-1, hMAdCAM-1,
• Gene location: 19p13.3 (85475149: 86002665)     Exons: 15     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 102670

Protein Summary

• Protein general information: Q13477  
  • Name: Mucosal addressin cell adhesion molecule 1 (MAdCAM 1) (hMAdCAM 1)
  • Length: 382  
  • Mass: 40155
  • 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:

  MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQWRGLDTSLGAVQSDTG
  RSVLTVRNASLSAAGTRVCVGSCGGRTFQHTVQLLVYAFPDQLTVSPAALVPGDPEVACTAHKVTPVDPNALSFS
  LLVGGQELEGAQALGPEVQEEEEEPQGDEDVLFRVTERWRLPPLGTPVPPALYCQATMRLPGLELSHRQAIPVLH
  SPTSPEPPDTTSPESPDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGP
  TQGEVIPTGSSKPAGDQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLRLLPQVSAWAGLRGTG
  QVGISPS

• Structural information:
  • Protein Domains: (23..11-)
    (/note="Ig-like-1)
    (113..23-)
    (/note="Ig-like-2")
  • Interpro: IPR015169  IPR007110  IPR036179  IPR013783  IPR003599   IPR037413  
  • Prosite: PS50835
  • PDB: 1BQS 1GSM 4HBQ 4HC1 4HCR 4HD9
  • PDBsum: 1BQS 1GSM 4HBQ 4HC1 4HCR 4HD9
  • STRING: ENSP00000215637
• Other Databases: GeneCards:  MADCAM1  Malacards:  MADCAM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098640	integrin binding involved in cell-matrix adhesion	IBA	molecular function
GO:0034113	heterotypic cell-cell adhesion	IBA	biological process
GO:0007229	integrin-mediated signaling pathway	IBA	biological process
GO:0050901	leukocyte tethering or rolling	IBA	biological process
GO:0002687	positive regulation of leukocyte migration	IBA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0098640	integrin binding involved in cell-matrix adhesion	IEA	molecular function
GO:2000403	positive regulation of lymphocyte migration	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0098640	integrin binding involved in cell-matrix adhesion	IDA	molecular function
GO:0050901	leukocyte tethering or rolling	IDA	biological process
GO:0007160	cell-matrix adhesion	IDA	biological process
GO:0007229	integrin-mediated signaling pathway	IDA	biological process
GO:0043113	receptor clustering	IDA	biological process
GO:0034113	heterotypic cell-cell adhesion	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules
hsa04672	Intestinal immune network for IgA production

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq