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ANTXR1 ANTXR cell adhesion molecule 1 [ Homo sapiens (human) ]

Gene ID: 84168, updated on 18-Jun-2019

Summary

Official Symbol
ANTXR1provided by HGNC
Official Full Name
ANTXR cell adhesion molecule 1provided by HGNC
Primary source
HGNC:HGNC:21014
See related
Ensembl:ENSG00000169604 MIM:606410
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
ATR; GAPO; TEM8
Summary
This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
Expression
Broad expression in gall bladder (RPKM 37.4), ovary (RPKM 30.6) and 21 other tissues See more
Orthologs

Genomic context

See ANTXR1 in Genome Data Viewer
Location:
2p13.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (69013144..69249327)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69240276..69476459)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene gastrokine 2 Neighboring gene gastrokine 1 Neighboring gene microRNA 3126 Neighboring gene Sharpr-MPRA regulatory region 10320 Neighboring gene Sharpr-MPRA regulatory region 12475 Neighboring gene RNA, U6 small nuclear 1216, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 96 Neighboring gene golgi reassembly stacking protein 2, 55kDa pseudogene Neighboring gene glutamine--fructose-6-phosphate transaminase 1

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hemangioma, capillary infantile
MedGen: C1865871 OMIM: 602089 GeneReviews: Not available
not available
Odontotrichomelic syndrome
MedGen: C0406723 OMIM: 230740 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cellular roles of Anthrax toxin, organism-specific biosystem (from Pathway Interaction Database)
    Cellular roles of Anthrax toxin, organism-specific biosystem
    Cellular roles of Anthrax toxin
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Uptake and actions of bacterial toxins, organism-specific biosystem (from REACTOME)
    Uptake and actions of bacterial toxins, organism-specific biosystemThe toxic effects of many bacteria on their human hosts are mediated by proteins released from the bacteria that enter human cells and disrupt critical cellular functions (Henkel et al. 2010). All of...
  • Uptake and function of anthrax toxins, organism-specific biosystem (from REACTOME)
    Uptake and function of anthrax toxins, organism-specific biosystemBacillus anthracis bacteria target cells in an infected human through the action of three secreted bacterial proteins, LF, EF, and PA (reviews: Turk 2007; Young and Collier 2007). LF (lethal factor) ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10601, FLJ11298, FLJ21776

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
collagen binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane signaling receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton reorganization IDA
Inferred from Direct Assay
more info
PubMed 
blood vessel development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extracellular matrix assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of metallopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
reproductive process IEA
Inferred from Electronic Annotation
more info
 
substrate adhesion-dependent cell spreading IDA
Inferred from Direct Assay
more info
PubMed 
toxin transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell surface HDA PubMed 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
filopodium membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lamellipodium membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
anthrax toxin receptor 1
Names
2310008J16Rik
2810405N18Rik
tumor endothelial marker 8

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012649.1 RefSeqGene

    Range
    5001..241184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018153.3NP_060623.2  anthrax toxin receptor 1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_060623.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternative 3' coding region and 3' UTR segment and lacks multiple segments, compared to variant 1. The resulting protein (isoform 3) has a shorter and distinct C-terminus when it is compared to isoform 1.
    Source sequence(s)
    BC012074, BC012475, DC360415, DC361072
    Consensus CDS
    CCDS46314.1
    UniProtKB/Swiss-Prot
    Q9H6X2
    UniProtKB/TrEMBL
    Q96EC6
    Related
    ENSP00000387058.3, ENST00000409829.7
    Conserved Domains (2) summary
    cd01474
    Location:39223
    vWA_ATR; ATR (Anthrax Toxin Receptor): Anthrax toxin is a key virulence factor for Bacillus anthracis, the causative agent of anthrax. ATR is the cellular receptor for the anthrax protective antigen and facilitates entry of the toxin into cells. The VWA domain in ...
    pfam05587
    Location:218318
    Anth_Ig; Anthrax receptor extracellular domain
  2. NM_032208.2NP_115584.1  anthrax toxin receptor 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_115584.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
    Source sequence(s)
    AF279145, AK223273, BU687536, DC361072
    Consensus CDS
    CCDS1892.1
    UniProtKB/Swiss-Prot
    Q9H6X2
    UniProtKB/TrEMBL
    Q53FL1
    Related
    ENSP00000301945.4, ENST00000303714.8
    Conserved Domains (3) summary
    cd01474
    Location:39223
    vWA_ATR; ATR (Anthrax Toxin Receptor): Anthrax toxin is a key virulence factor for Bacillus anthracis, the causative agent of anthrax. ATR is the cellular receptor for the anthrax protective antigen and facilitates entry of the toxin into cells. The VWA domain in ...
    pfam05586
    Location:396488
    Ant_C; Anthrax receptor C-terminus region
    pfam05587
    Location:225319
    Anth_Ig; Anthrax receptor extracellular domain
  3. NM_053034.2NP_444262.1  anthrax toxin receptor 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_444262.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternative 3' coding region and 3' UTR segment and lacks multiple segments, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AF421380, AK309553, CF126791, DC361072
    Consensus CDS
    CCDS46313.1
    UniProtKB/Swiss-Prot
    Q9H6X2
    Related
    ENSP00000386494.3, ENST00000409349.7
    Conserved Domains (2) summary
    cd01474
    Location:39223
    vWA_ATR; ATR (Anthrax Toxin Receptor): Anthrax toxin is a key virulence factor for Bacillus anthracis, the causative agent of anthrax. ATR is the cellular receptor for the anthrax protective antigen and facilitates entry of the toxin into cells. The VWA domain in ...
    pfam05587
    Location:218319
    Anth_Ig; Anthrax receptor extracellular domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    69013144..69249327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005077.2XP_016860566.1  anthrax toxin receptor 1 isoform X3

    Conserved Domains (2) summary
    cd01474
    Location:39223
    vWA_ATR; ATR (Anthrax Toxin Receptor): Anthrax toxin is a key virulence factor for Bacillus anthracis, the causative agent of anthrax. ATR is the cellular receptor for the anthrax protective antigen and facilitates entry of the toxin into cells. The VWA domain in ...
    pfam05587
    Location:218317
    Anth_Ig; Anthrax receptor extracellular domain
  2. XM_017005075.2XP_016860564.1  anthrax toxin receptor 1 isoform X1

  3. XM_017005076.2XP_016860565.1  anthrax toxin receptor 1 isoform X2

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