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

    Gene ID: 8174, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MADCAM1 in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene SHC adaptor protein 2 Neighboring gene RNA, 5S ribosomal pseudogene 462 Neighboring gene MPRA-validated peak3210 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:470349-470886 Neighboring gene CIMAP1 family member D Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:485653-486171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9600 Neighboring gene uncharacterized LOC124904608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:489477-489978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9602 Neighboring gene MADCAM1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:506573-507430 Neighboring gene Sharpr-MPRA regulatory region 4509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:511078-511918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:511919-512760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:518458-519364 Neighboring gene tubulin polyglutamylase complex subunit 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:531801-532457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:534117-534693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:534694-535269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13563 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:535719-535880 Neighboring gene cell division cycle 34, ubiqiutin conjugating enzyme

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    mucosal addressin cell adhesion molecule 1
    Names
    MAdCAM-1
    hMAdCAM-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_130760.3NP_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:33111
      IG_like; Immunoglobulin like
      pfam09085
      Location:113221
      Adhes-Ig_like; Adhesion molecule, immunoglobulin-like
      pfam12238
      Location:228290
      MSA-2c; Merozoite surface antigen 2c
      cl11960
      Location:26109
      Ig; Immunoglobulin domain
    2. NM_130762.3NP_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:33111
      IG_like; Immunoglobulin like
      pfam09085
      Location:113221
      Adhes-Ig_like; Adhesion molecule, immunoglobulin-like
      cl11960
      Location:28109
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      496486..505343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      448988..457915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)