• Gene id: 84168

Gene Summary

• Gene Symbol: ANTXR1   Gene   UCSC   Ensembl
• Aliases: ATR, GAPO, TEM8
• Gene name: ANTXR cell adhesion molecule 1
• Alternate names: anthrax toxin receptor 1, 2310008J16Rik, 2810405N18Rik, tumor endothelial marker 8,
• Gene location: 2p13.3 (69013143: 69249326)     Exons: 23     NC_000002.12
• Gene summary(Entrez): 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 causat
• OMIM: 606410

Protein Summary

• Protein general information: Q9H6X2  
  • Name: Anthrax toxin receptor 1 (Tumor endothelial marker 8)
  • Length: 564  
  • Mass: 62789
  • Tissue specificity: Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor endothelial cells. {ECO
• Sequence:

  MATAERRALGIGFQWLSLATLVLICAGQGGRREDGGPACYGGFDLYFILDKSGSVLHHWNEIYYFVEQLAHKFIS
  PQLRMSFIVFSTRGTTLMKLTEDREQIRQGLEELQKVLPGGDTYMHEGFERASEQIYYENRQGYRTASVIIALTD
  GELHEDLFFYSEREANRSRDLGAIVYCVGVKDFNETQLARIADSKDHVFPVNDGFQALQGIIHSILKKSCIEILA
  AEPSTICAGESFQVVVRGNGFRHARNVDRVLCSFKINDSVTLNEKPFSVEDTYLLCPAPILKEVGMKAALQVSMN
  DGLSFISSSVIITTTHCSDGSILAIALLILFLLLALALLWWFWPLCCTVIIKEVPPPPAEESEEEDDDGLPKKKW
  PTVDASYYGGRGVGGIKRMEVRWGEKGSTEEGAKLEKAKNARVKMPEQEYEFPEPRNLNNNMRRPSSPRKWYSPI
  KGKLDALWVLLRKGYDRVSVMRPQPGDTGRCINFTRVKNNQPAKYPLNNAYHTSSPPPAPIYTPPPPAPHCPPPP
  PSAPTPPIPSPPSTLPPPPQAPPPNRAPPPSRPPPRPSV

• Structural information:
  • Protein Domains: (44..21-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR017360  IPR008399  IPR008400  IPR002035  IPR036465  
  • Prosite: PS50234
  • PDB: 3N2N 6ADL 6ADM 6ADR 6CX1
  • PDBsum: 3N2N 6ADL 6ADM 6ADR 6CX1
  • STRING: ENSP00000301945
• Other Databases: GeneCards:  ANTXR1  Malacards:  ANTXR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901998	toxin transport	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0004888	transmembrane signaling receptor activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901202	negative regulation of extracellular matrix assembly	IEA	biological process
GO:1905050	positive regulation of metallopeptidase activity	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0022414	reproductive process	IEA	biological process
GO:0031527	filopodium membrane	IEA	cellular component
GO:0031258	lamellipodium membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034446	substrate adhesion-dependent cell spreading	IDA	biological process
GO:0031532	actin cytoskeleton reorganization	IDA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0031527	filopodium membrane	IDA	cellular component
GO:0031258	lamellipodium membrane	IDA	cellular component
GO:0005518	collagen binding	IDA	molecular function
GO:0004888	transmembrane signaling receptor activity	IDA	molecular function
GO:0009986	cell surface	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Infantile hemangioma	KEGG:H01482
Infantile hemangioma	KEGG:H01482
Triple-receptor negative breast cancer	PMID:21965755
colorectal carcinoma	PMID:19528090
Breast cancer	PMID:17016666
gallbladder carcinoma	PMID:21545221
colorectal cancer	PMID:21573768
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray