ANTXR1

Protein identityUniProt · HPA

UniProt accession

Q9H6X2

Gene

ANTXR1

Ensembl

ENSG00000169604

Chromosome

2

Canonical length

564 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Vesicles

Secretome location

Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

564 residues, UniProt reviewed canonical sequence.

>Q9H6X2|ANTXR1
     1  MATAERRALG IGFQWLSLAT LVLICAGQGG RREDGGPACY GGFDLYFILD KSGSVLHHWN
    61  EIYYFVEQLA HKFISPQLRM SFIVFSTRGT TLMKLTEDRE QIRQGLEELQ KVLPGGDTYM
   121  HEGFERASEQ IYYENRQGYR TASVIIALTD GELHEDLFFY SEREANRSRD LGAIVYCVGV
   181  KDFNETQLAR IADSKDHVFP VNDGFQALQG IIHSILKKSC IEILAAEPST ICAGESFQVV
   241  VRGNGFRHAR NVDRVLCSFK INDSVTLNEK PFSVEDTYLL CPAPILKEVG MKAALQVSMN
   301  DGLSFISSSV IITTTHCSDG SILAIALLIL FLLLALALLW WFWPLCCTVI IKEVPPPPAE
   361  ESEEEDDDGL PKKKWPTVDA SYYGGRGVGG IKRMEVRWGE KGSTEEGAKL EKAKNARVKM
   421  PEQEYEFPEP RNLNNNMRRP SSPRKWYSPI KGKLDALWVL LRKGYDRVSV MRPQPGDTGR
   481  CINFTRVKNN QPAKYPLNNA YHTSSPPPAP IYTPPPPAPH CPPPPPSAPT PPIPSPPSTL
   541  PPPPQAPPPN RAPPPSRPPP RPSV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ANTXR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

205 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ANTXR1.

Disease | AllUniProt

Conditions ANTXR1 is implicated in, by any mechanism.

• Hemangioma, capillary infantile (HCI) MIM:602089
• GAPO syndrome (GAPOS) MIM:230740

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 214 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• GAPO syndrome
• ANTXR1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.3

gnomAD pLI

0.99

gnomAD missense Z

1.52

DepMap mean gene effect

0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin cytoskeleton organization
• blood vessel development
• negative regulation of extracellular matrix assembly
• positive regulation of epidermal growth factor receptor signaling pathway
• substrate adhesion-dependent cell spreading

Molecular functions

• actin filament binding
• collagen binding
• metal ion binding
• signaling receptor activity
• transmembrane signaling receptor activity

Cellular components

• cell surface
• endosome membrane
• external side of plasma membrane
• filopodium membrane
• lamellipodium membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• von Willebrand factor, type A
• Anthrax toxin receptor, C-terminal
• Anthrax toxin receptor, extracellular domain
• Anthrax toxin receptor
• von Willebrand factor A-like domain superfamily
• von Willebrand factor type A domain
• Anthrax receptor C-terminus region
• Anthrax receptor extracellular domain

KeywordsUniProt

• Cell membrane
• Cell projection
• Disulfide bond
• Glycoprotein
• Hypotrichosis
• Membrane
• Metal-binding
• Phosphoprotein
• Receptor
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of ANTXR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SLC10A1