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

Gene ID: 84168, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:21014
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
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Genomic context

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See ANTXR1 in Genome Data Viewer
Location:
2p13.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69013144..69249327)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69025553..69261692)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69240276..69476459)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr2:69199258-69199490 Neighboring gene gastrokine 2 Neighboring gene gastrokine 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59282 Neighboring gene microRNA 3126 Neighboring gene Sharpr-MPRA regulatory region 10320 Neighboring gene Sharpr-MPRA regulatory region 8391 Neighboring gene Sharpr-MPRA regulatory region 12475 Neighboring gene RNA, U6 small nuclear 1216, pseudogene Neighboring gene uncharacterized LOC124906019 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:69423745-69424944 Neighboring gene RNA, 5S ribosomal pseudogene 96 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:69436267-69436771 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:69436772-69437275 Neighboring gene Sharpr-MPRA regulatory region 2730 Neighboring gene golgi reassembly stacking protein 2, 55kDa pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr2:69506926-69507427 Neighboring gene uncharacterized LOC124907821

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Broad expression analysis of human ANTXR1/TEM8 transcripts reveals differential expression and novel splizce variants. Vargas M, et al. PLoS One, 2012. PMID 22912819, Free PMC Article
  2. Structural basis for anthrax toxin receptor 1 recognition by Seneca Valley Virus. Jayawardena N, et al. Proc Natl Acad Sci U S A, 2018 Nov 13. PMID 30381454, Free PMC Article
  3. ANTXR1 Intronic Variants Are Associated with Fetal Hemoglobin in the Arab-Indian Haplotype of Sickle Cell Disease. Al-Ali ZA, et al. Acta Haematol, 2018. PMID 30114697
  4. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Dinckan N, et al. Am J Med Genet A, 2018 Apr. PMID 29436111, Free PMC Article
  5. Effect of silencing TEM8 gene on proliferation, apoptosis, migration and invasion of XWLC‑05 lung cancer cells. Gong Q, et al. Mol Med Rep, 2018 Jan. PMID 29115620, Free PMC Article

See all (98) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GAPO syndrome: a novel variant in ANTXR1 gene.
    Title: GAPO syndrome: a novel variant in ANTXR1 gene.
  2. ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.
    Title: ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.
  3. Depleting ANTXR1 suppresses glioma growth via deactivating PI3K/AKT pathway.
    Title: Depleting ANTXR1 suppresses glioma growth via deactivating PI3K/AKT pathway.
  4. Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings.
    Title: Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings.
  5. ANTXR1 Regulates Erythroid Cell Proliferation and Differentiation through wnt/beta-Catenin Signaling Pathway In Vitro and in Hematopoietic Stem Cell.
    Title: ANTXR1 Regulates Erythroid Cell Proliferation and Differentiation through wnt/β-Catenin Signaling Pathway In Vitro and in Hematopoietic Stem Cell.
  6. Transmembrane Protein ANTXR1 Regulates gamma-Globin Expression by Targeting the Wnt/beta-Catenin Signaling Pathway.
    Title: Transmembrane Protein ANTXR1 Regulates γ-Globin Expression by Targeting the Wnt/β-Catenin Signaling Pathway.
  7. Circular RNA circAFF2 accelerates gastric cancer development by activating miR-6894-5p and regulating ANTXR 1 expression.
    Title: Circular RNA circAFF2 accelerates gastric cancer development by activating miR-6894-5p and regulating ANTXR 1 expression.
  8. N-Myc promotes angiogenesis and therapeutic resistance of prostate cancer by TEM8.
    Title: N-Myc promotes angiogenesis and therapeutic resistance of prostate cancer by TEM8.
  9. N-Linked Glycosylation on Anthrax Toxin Receptor 1 Is Essential for Seneca Valley Virus Infection.
    Title: N-Linked Glycosylation on Anthrax Toxin Receptor 1 Is Essential for Seneca Valley Virus Infection.
  10. Targeted silencing of TEM8 suppresses nonsmall cell lung cancer tumor growth via the ERK/Bcl2 signaling pathway.
    Title: Targeted silencing of TEM8 suppresses non‑small cell lung cancer tumor growth via the ERK/Bcl‑2 signaling pathway.
Submit: New GeneRIF Correction See all GeneRIFs (56)

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

Associated conditions

Description Tests
Capillary infantile hemangioma
MedGen: C1865871 OMIM: 602089 GeneReviews: Not available
Compare labs
GAPO syndrome
MedGen: C0406723 OMIM: 230740 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10601, FLJ11298, FLJ21776

Gene Ontology Provided by GOA

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

General protein information

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

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.

Genomic

  1. NG_012649.1 RefSeqGene

    Range
    5036..241184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001410840.1 → NP_001397769.1  anthrax toxin receptor 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC112230, AC114802
    Consensus CDS
    CCDS92773.1
    UniProtKB/TrEMBL
    H0YC24
    Related
    ENSP00000430776.2, ENST00000482235.2

  2. NM_018153.3 → NP_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/TrEMBL
    Q53FL1
    Related
    ENSP00000387058.3, ENST00000409829.7
    Conserved Domains (2) summary
    cd01474
    Location:39 → 223
    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:218 → 318
    Anth_Ig; Anthrax receptor extracellular domain

  3. NM_032208.3 → NP_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
    A8K7U8, J7K7G4, J7KF88, Q4ZFV6, Q53QD8, Q96P02, Q9H6X2, Q9NVP3
    Related
    ENSP00000301945.4, ENST00000303714.9
    Conserved Domains (3) summary
    cd01474
    Location:39 → 223
    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:396 → 488
    Ant_C; Anthrax receptor C-terminus region
    pfam05587
    Location:218 → 317
    Anth_Ig; Anthrax receptor extracellular domain

  4. NM_053034.2 → NP_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/TrEMBL
    Q53FL1
    Related
    ENSP00000386494.3, ENST00000409349.7
    Conserved Domains (2) summary
    cd01474
    Location:39 → 223
    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:218 → 319
    Anth_Ig; Anthrax receptor extracellular 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_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017005077.3 → XP_016860566.1  anthrax toxin receptor 1 isoform X2

    UniProtKB/TrEMBL
    Q53FL1
    Conserved Domains (2) summary
    cd01474
    Location:39 → 223
    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:218 → 317
    Anth_Ig; Anthrax receptor extracellular domain

  2. XM_017005076.3 → XP_016860565.1  anthrax toxin receptor 1 isoform X1

    UniProtKB/TrEMBL
    Q53FL1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    69025553..69261692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344122.1 → XP_054200097.1  anthrax toxin receptor 1 isoform X2

  2. XM_054344121.1 → XP_054200096.1  anthrax toxin receptor 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H6X2.2 GenPept UniProtKB/Swiss-Prot:Q9H6X2

Gene LinkOut

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