MADCAM1 mucosal vascular addressin cell adhesion molecule 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MADCAM1provided by HGNC
Official Full Name: mucosal vascular addressin cell adhesion molecule 1provided by HGNC
Primary source: HGNC:HGNC:6765
See related: Ensembl:ENSG00000099866 MIM:102670; AllianceGenome:HGNC:6765
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MACAM1
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 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]
Expression: Biased expression in appendix (RPKM 6.2), spleen (RPKM 4.9) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (496486..505343)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (448988..457915)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (496486..505343)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Frequency of Effector Memory Cells Expressing Integrin alpha4beta7 Is Associated With TGF-beta1 Levels in Therapy Naive HIV Infected Women With Low CD4(+) T Cell Count.
Title: Frequency of Effector Memory Cells Expressing Integrin α(4)β(7) Is Associated With TGF-β1 Levels in Therapy Naïve HIV Infected Women With Low CD4(+) T Cell Count.
sMAdCAM: IL-6 Ratio Influences Disease Progression and Anti-Viral Responses in SARS-CoV-2 Infection.
Title: sMAdCAM: IL-6 Ratio Influences Disease Progression and Anti-Viral Responses in SARS-CoV-2 Infection.
Baseline levels of dynamic CD4(+) T cell adhesion to MAdCAM-1 correlate with clinical response to vedolizumab treatment in ulcerative colitis: a cohort study.
Title: Baseline levels of dynamic CD4(+) T cell adhesion to MAdCAM-1 correlate with clinical response to vedolizumab treatment in ulcerative colitis: a cohort study.
n the present study, mucosal addressin cell adhesion molecule-1 was selectively expressed on alpha-smooth muscle actin-positive reticular framework. The reticular framework may function in lymphocyte homing and segregation into the periarteriolar lymphoid sheath, lymph follicle and marginal zone.
Title: Expression of mucosal addressin cell adhesion molecule-1 on the reticular framework between white pulp and the marginal zone in the human spleen.
Both the ACT-1 assay and the MAdCAM-1 assay demonstrated acceptable reproducibility and repeatability. The assays were sufficiently stable to allow for clinical use. During clinical testing the assays demonstrated that vedolizumab was able to saturate peripheral cells at all doses tested.
Title: Development and validation of receptor occupancy pharmacodynamic assays used in the clinical development of the monoclonal antibody vedolizumab.
Doxo-induced apoptosis has a role in inhibiting hepatocellular carcinoma by targeting Madcam1 and AKT and blocking protein translation initiation
Title: Doxorubicin induces apoptosis by targeting Madcam1 and AKT and inhibiting protein translation initiation in hepatocellular carcinoma cells.
MADCAM1 is up-regulated in liver cirrhosis with expression on peribiliary vascular plexus and lymphoid aggregates
Title: Mucosal addressin cell adhesion molecule (MAdCAM-1) expression is upregulated in the cirrhotic liver and immunolocalises to the peribiliary plexus and lymphoid aggregates.
Domain 1 of mucosal addressin cell adhesion molecule has an I1-set fold and a flexible integrin-binding loop.
Title: Domain 1 of mucosal addressin cell adhesion molecule has an I1-set fold and a flexible integrin-binding loop.
Findings suggest that the inactive alpha4beta7 and alpha4beta7 activated by different stimuli have distinct conformations with different structural requirements for MAdCAM-1 binding.
Title: The CC' and DE loops in Ig domains 1 and 2 of MAdCAM-1 play different roles in MAdCAM-1 binding to low- and high-affinity integrin alpha4beta7.
MADCAM1 gene polymorphisms may be associated with the risk of chronic GVHD and may, also, affect mortality related to aHSCT.
Title: Possible impact of MADCAM1 gene single nucleotide polymorphisms to the outcome of allogeneic hematopoietic stem cell transplantation.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482084

SGC33099 (e-PCR)
- UniSTS:78137

NoName (e-PCR)
- UniSTS:490331

RH93497 (e-PCR)
- UniSTS:84925

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables integrin binding involved in cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
enables integrin binding involved in cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in heterotypic cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in heterotypic cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in integrin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in leukocyte tethering or rolling	IBA Inferred from Biological aspect of Ancestor more info
involved_in leukocyte tethering or rolling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of leukocyte migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of lymphocyte migration	IEA Inferred from Electronic Annotation more info
involved_in receptor clustering	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mucosal addressin cell adhesion molecule 1

Names: MAdCAM-1; hMAdCAM-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_130760.3 → NP_570116.2 mucosal addressin cell adhesion molecule 1 isoform a precursor

See identical proteins and their annotated locations for NP_570116.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longer, predominant transcript and encodes the longer isoform (a).

Source sequence(s)

AC005775, DB323303, U43628, U82483

Consensus CDS

CCDS12028.1

UniProtKB/Swiss-Prot

A5PKV4, B2RPL9, O60222, O75867, Q13477, Q5UGI7

UniProtKB/TrEMBL

Q5PY60

Related

ENSP00000215637.2, ENST00000215637.8

Conserved Domains (4) summary

smart00410
Location:33 → 111

IG_like; Immunoglobulin like

pfam09085
Location:113 → 221

Adhes-Ig_like; Adhesion molecule, immunoglobulin-like

pfam12238
Location:228 → 290

MSA-2c; Merozoite surface antigen 2c

cl11960
Location:26 → 109

Ig; Immunoglobulin domain
NM_130762.3 → NP_570118.1 mucosal addressin cell adhesion molecule 1 isoform b precursor

See identical proteins and their annotated locations for NP_570118.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b) that lacks an internal segment, compared to isoform a.

Source sequence(s)

AC005775, AY732484, U82483

Consensus CDS

CCDS12029.1

UniProtKB/Swiss-Prot

Q13477

Related

ENSP00000304247.2, ENST00000346144.8

Conserved Domains (3) summary

smart00410
Location:33 → 111

IG_like; Immunoglobulin like

pfam09085
Location:113 → 221

Adhes-Ig_like; Adhesion molecule, immunoglobulin-like

cl11960
Location:28 → 109

Ig; Immunoglobulin domain