UniProtKB - Q9H6X2 (ANTR1_HUMAN)
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Protein
Anthrax toxin receptor 1
Gene
ANTXR1
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells.2 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 52 | Divalent metal cationBy similarity | 1 | |
Metal bindingi | 54 | Divalent metal cationBy similarity | 1 | |
Metal bindingi | 118 | Divalent metal cationBy similarity | 1 |
GO - Molecular functioni
- actin filament binding Source: UniProtKB
- collagen binding Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- transmembrane signaling receptor activity Source: UniProtKB
GO - Biological processi
- actin cytoskeleton reorganization Source: UniProtKB
- blood vessel development Source: Ensembl
- negative regulation of extracellular matrix assembly Source: Ensembl
- positive regulation of metallopeptidase activity Source: Ensembl
- reproductive process Source: Ensembl
- substrate adhesion-dependent cell spreading Source: UniProtKB
Keywordsi
Molecular function | Receptor |
Ligand | Metal-binding |
Enzyme and pathway databases
Reactomei | R-HSA-5210891. Uptake and function of anthrax toxins. |
Names & Taxonomyi
Protein namesi | Recommended name: Anthrax toxin receptor 1Alternative name(s): Tumor endothelial marker 8 |
Gene namesi | Name:ANTXR1 Synonyms:ATR, TEM8 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000169604.19. |
HGNCi | HGNC:21014. ANTXR1. |
MIMi | 606410. gene. |
neXtProti | NX_Q9H6X2. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 33 – 321 | ExtracellularSequence analysisAdd BLAST | 289 | |
Transmembranei | 322 – 342 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 343 – 564 | CytoplasmicSequence analysisAdd BLAST | 222 |
Keywords - Cellular componenti
Cell membrane, Cell projection, MembranePathology & Biotechi
Involvement in diseasei
Hemangioma, capillary infantile (HCI)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring.
See also OMIM:602089GAPO syndrome (GAPO)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients.
See also OMIM:230740Keywords - Diseasei
HypotrichosisOrganism-specific databases
DisGeNETi | 84168. |
MalaCardsi | ANTXR1. |
MIMi | 230740. phenotype. 602089. phenotype. |
OpenTargetsi | ENSG00000169604. |
Orphaneti | 91415. Familial capillary hemangioma. 2067. GAPO syndrome. |
PharmGKBi | PA134956382. |
Polymorphism and mutation databases
BioMutai | ANTXR1. |
DMDMi | 17366074. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 32 | Sequence analysisAdd BLAST | 32 | |
ChainiPRO_0000002692 | 33 – 564 | Anthrax toxin receptor 1Add BLAST | 532 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 39 ↔ 220 | 1 Publication | ||
Glycosylationi | 166 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 184 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 262 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 362 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q9H6X2. |
MaxQBi | Q9H6X2. |
PaxDbi | Q9H6X2. |
PeptideAtlasi | Q9H6X2. |
PRIDEi | Q9H6X2. |
PTM databases
iPTMneti | Q9H6X2. |
PhosphoSitePlusi | Q9H6X2. |
SwissPalmi | Q9H6X2. |
Expressioni
Tissue specificityi
Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor endothelial cells.1 Publication
Inductioni
Up-regulated in cultured angiogenic umbilical vein endothelial cells.1 Publication
Gene expression databases
Bgeei | ENSG00000169604. |
CleanExi | HS_ANTXR1. HS_ATR. |
ExpressionAtlasi | Q9H6X2. baseline and differential. |
Genevisiblei | Q9H6X2. HS. |
Organism-specific databases
HPAi | HPA052046. HPA054785. |
Interactioni
Subunit structurei
Interacts with gelatin and type 1 collagen. Interacts with the actin cytoskeleton. Binds to the protective antigen (PA) of Bacillus anthracis. Binding does not occur in the presence of calcium.5 Publications
Binary interactionsi
GO - Molecular functioni
- actin filament binding Source: UniProtKB
- collagen binding Source: UniProtKB
Protein-protein interaction databases
BioGridi | 123924. 63 interactors. |
IntActi | Q9H6X2. 14 interactors. |
STRINGi | 9606.ENSP00000301945. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Beta strandi | 40 – 50 | Combined sources | 11 | |
Helixi | 53 – 58 | Combined sources | 6 | |
Helixi | 59 – 72 | Combined sources | 14 | |
Beta strandi | 78 – 96 | Combined sources | 19 | |
Helixi | 99 – 110 | Combined sources | 12 | |
Helixi | 120 – 135 | Combined sources | 16 | |
Beta strandi | 141 – 149 | Combined sources | 9 | |
Helixi | 155 – 170 | Combined sources | 16 | |
Beta strandi | 173 – 179 | Combined sources | 7 | |
Helixi | 185 – 188 | Combined sources | 4 | |
Turni | 189 – 191 | Combined sources | 3 | |
Beta strandi | 192 – 194 | Combined sources | 3 | |
Helixi | 195 – 197 | Combined sources | 3 | |
Beta strandi | 198 – 200 | Combined sources | 3 | |
Helixi | 201 – 217 | Combined sources | 17 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3N2N | X-ray | 1.80 | A/B/C/D/E/F | 38-220 | [»] | |
ProteinModelPortali | Q9H6X2. | |||||
SMRi | Q9H6X2. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 44 – 215 | VWFAPROSITE-ProRule annotationAdd BLAST | 172 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 154 – 160 | Interaction with PA | 7 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 360 – 368 | Asp/Glu-rich (highly acidic) | 9 | |
Compositional biasi | 506 – 564 | Pro-richAdd BLAST | 59 |
Domaini
Binding to PA occurs through the VWA domain.
Sequence similaritiesi
Belongs to the ATR family.Curated
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG410IK1W. Eukaryota. ENOG410YC57. LUCA. |
GeneTreei | ENSGT00430000031214. |
HOGENOMi | HOG000264249. |
HOVERGENi | HBG050514. |
InParanoidi | Q9H6X2. |
KOi | K20909. |
OMAi | FTVEDTY. |
OrthoDBi | EOG091G08TW. |
PhylomeDBi | Q9H6X2. |
TreeFami | TF328943. |
Family and domain databases
Gene3Di | 3.40.50.410. 1 hit. |
InterProi | View protein in InterPro IPR008399. Anthrax_toxin_rcpt_C. IPR008400. Anthrax_toxin_rcpt_extracel. IPR002035. VWF_A. IPR036465. vWFA_dom_sf. |
Pfami | View protein in Pfam PF05586. Ant_C. 1 hit. PF05587. Anth_Ig. 1 hit. PF00092. VWA. 1 hit. |
ProDomi | View protein in ProDom or Entries sharing at least one domain PD377005. Anthrax_toxin_rcpt_C. 1 hit. |
SMARTi | View protein in SMART SM00327. VWA. 1 hit. |
SUPFAMi | SSF53300. SSF53300. 1 hit. |
PROSITEi | View protein in PROSITE PS50234. VWFA. 1 hit. |
s (6)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basket
Note: Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q9H6X2-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MATAERRALG IGFQWLSLAT LVLICAGQGG RREDGGPACY GGFDLYFILD
60 70 80 90 100
KSGSVLHHWN EIYYFVEQLA HKFISPQLRM SFIVFSTRGT TLMKLTEDRE
110 120 130 140 150
QIRQGLEELQ KVLPGGDTYM HEGFERASEQ IYYENRQGYR TASVIIALTD
160 170 180 190 200
GELHEDLFFY SEREANRSRD LGAIVYCVGV KDFNETQLAR IADSKDHVFP
210 220 230 240 250
VNDGFQALQG IIHSILKKSC IEILAAEPST ICAGESFQVV VRGNGFRHAR
260 270 280 290 300
NVDRVLCSFK INDSVTLNEK PFSVEDTYLL CPAPILKEVG MKAALQVSMN
310 320 330 340 350
DGLSFISSSV IITTTHCSDG SILAIALLIL FLLLALALLW WFWPLCCTVI
360 370 380 390 400
IKEVPPPPAE ESEEEDDDGL PKKKWPTVDA SYYGGRGVGG IKRMEVRWGE
410 420 430 440 450
KGSTEEGAKL EKAKNARVKM PEQEYEFPEP RNLNNNMRRP SSPRKWYSPI
460 470 480 490 500
KGKLDALWVL LRKGYDRVSV MRPQPGDTGR CINFTRVKNN QPAKYPLNNA
510 520 530 540 550
YHTSSPPPAP IYTPPPPAPH CPPPPPSAPT PPIPSPPSTL PPPPQAPPPN
560
RAPPPSRPPP RPSV
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Sequence cautioni
The sequence BAA91707 differs from that shown. Erroneous initiation (Translation N-terminally extended) due to a conflict with the genome, including a frameshift.Curated
The sequence BAB15128 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053015 | 7 | R → K1 PublicationCorresponds to variant dbSNP:rs28365986Ensembl. | 1 | |
Natural variantiVAR_063146 | 326 | A → T in HCI susceptibility; expression of FLT1 in hemangioma endothelial cells is markedly reduced compared to controls; low FLT1 expression in hemangioma cells is caused by reduced activity of a pathway involving ITGB1, ANTXR1, KDR and NFATC2IP; the mutation disrupts interaction of these molecules in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs119475040Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000446 | 268 – 297 | NEKPF…AALQV → SKSLQSPWVSSTSGFKEGNS HPCLPARPHT in isoform 3. 1 PublicationAdd BLAST | 30 | |
Alternative sequenceiVSP_000447 | 298 – 564 | Missing in isoform 3. 1 PublicationAdd BLAST | 267 | |
Alternative sequenceiVSP_047863 | 315 – 358 | THCSD…VPPPP → FHPSPSSPGSTSQQGTSSLP PSSKAFCLEPKVPALGSLRN FRRC in isoform 6. 1 PublicationAdd BLAST | 44 | |
Alternative sequenceiVSP_000448 | 319 – 333 | DGSIL…ILFLL → LHKIASGPTTAACME in isoform 4. 2 PublicationsAdd BLAST | 15 | |
Alternative sequenceiVSP_000449 | 334 – 564 | Missing in isoform 4. 2 PublicationsAdd BLAST | 231 | |
Alternative sequenceiVSP_047864 | 359 – 564 | Missing in isoform 6. 1 PublicationAdd BLAST | 206 | |
Alternative sequenceiVSP_000444 | 365 – 368 | EDDD → NKIK in isoform 2. 1 Publication | 4 | |
Alternative sequenceiVSP_000445 | 369 – 564 | Missing in isoform 2. 1 PublicationAdd BLAST | 196 | |
Alternative sequenceiVSP_047865 | 522 – 557 | Missing in isoform 5. 1 PublicationAdd BLAST | 36 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF279145 mRNA. Translation: AAK52094.1. AF421380 mRNA. Translation: AAL26496.1. JX424838 mRNA. Translation: AFQ94038.1. JX424839 mRNA. Translation: AFQ94039.1. AK001463 mRNA. Translation: BAA91707.1. Sequence problems. AK025429 mRNA. Translation: BAB15128.1. Different initiation. AK292113 mRNA. Translation: BAF84802.1. AC112230 Genomic DNA. Translation: AAX88860.1. AC114802 Genomic DNA. Translation: AAY24067.1. BC012074 mRNA. Translation: AAH12074.1. |
CCDSi | CCDS1892.1. [Q9H6X2-1] CCDS46313.1. [Q9H6X2-2] CCDS46314.1. [Q9H6X2-4] |
RefSeqi | NP_060623.2. NM_018153.3. [Q9H6X2-4] NP_115584.1. NM_032208.2. [Q9H6X2-1] NP_444262.1. NM_053034.2. [Q9H6X2-2] |
UniGenei | Hs.165859. |
Genome annotation databases
Ensembli | ENST00000303714; ENSP00000301945; ENSG00000169604. [Q9H6X2-1] ENST00000409349; ENSP00000386494; ENSG00000169604. [Q9H6X2-2] ENST00000409829; ENSP00000387058; ENSG00000169604. [Q9H6X2-4] |
GeneIDi | 84168. |
KEGGi | hsa:84168. |
UCSCi | uc002sfe.4. human. [Q9H6X2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | ANTR1_HUMAN | |
Accessioni | Q9H6X2Primary (citable) accession number: Q9H6X2 Secondary accession number(s): A8K7U8 Q9NVP3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 2, 2001 |
Last sequence update: | November 2, 2001 | |
Last modified: | March 28, 2018 | |
This is version 176 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |