Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 558
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol AXL   Gene   UCSC   Ensembl
Aliases ARK, JTK11, Tyro7, UFO
Gene name AXL receptor tyrosine kinase
Alternate names tyrosine-protein kinase receptor UFO, AXL oncogene, AXL transforming sequence/gene,
Gene location 19q13.2 (41219198: 41261766)     Exons: 21     NC_000019.10
Gene summary(Entrez) The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
OMIM 109135

Protein Summary

Protein general information P30530  

Name: Tyrosine protein kinase receptor UFO (EC 2.7.10.1) (AXL oncogene)

Length: 894  Mass: 98,336

Tissue specificity: Highly expressed in metastatic colon tumors. Expressed in primary colon tumors. Weakly expressed in normal colon tissue. {ECO

Sequence MAWRCPRMGRVPLAWCLALCGWACMAPRGTQAEESPFVGNPGNITGARGLTGTLRCQLQVQGEPPEVHWLRDGQI
LELADSTQTQVPLGEDEQDDWIVVSQLRITSLQLSDTGQYQCLVFLGHQTFVSQPGYVGLEGLPYFLEEPEDRTV
AANTPFNLSCQAQGPPEPVDLLWLQDAVPLATAPGHGPQRSLHVPGLNKTSSFSCEAHNAKGVTTSRTATITVLP
QQPRNLHLVSRQPTELEVAWTPGLSGIYPLTHCTLQAVLSNDGMGIQAGEPDPPEEPLTSQASVPPHQLRLGSLH
PHTPYHIRVACTSSQGPSSWTHWLPVETPEGVPLGPPENISATRNGSQAFVHWQEPRAPLQGTLLGYRLAYQGQD
TPEVLMDIGLRQEVTLELQGDGSVSNLTVCVAAYTAAGDGPWSLPVPLEAWRPGQAQPVHQLVKEPSTPAFSWPW
WYVLLGAVVAAACVLILALFLVHRRKKETRYGEVFEPTVERGELVVRYRVRKSYSRRTTEATLNSLGISEELKEK
LRDVMVDRHKVALGKTLGEGEFGAVMEGQLNQDDSILKVAVKTMKIAICTRSELEDFLSEAVCMKEFDHPNVMRL
IGVCFQGSERESFPAPVVILPFMKHGDLHSFLLYSRLGDQPVYLPTQMLVKFMADIASGMEYLSTKRFIHRDLAA
RNCMLNENMSVCVADFGLSKKIYNGDYYRQGRIAKMPVKWIAIESLADRVYTSKSDVWSFGVTMWEIATRGQTPY
PGVENSEIYDYLRQGNRLKQPADCLDGLYALMSRCWELNPQDRPSFTELREDLENTLKALPPAQEPDEILYVNMD
EGGGYPEPPGAAGGADPPTQPDPKDSCSCLTAAEVHPAGRYVLCPSTTPSPAQPADRGSPAAPGQEDGA
Structural information
Protein Domains
Ig-like (27-128)
Ig-like (139-222)
Fibronectin (227-331)
Fibronectin (336-428)
Protein (536-807)
Interpro:  IPR003961 IPR007110 IPR013783 IPR003599 IPR011009 IPR000719 IPR017441 IPR001245 IPR008266 IPR020635
Prosite:   PS50853 PS50835 PS00107 PS50011 PS00109

Pfam:  
PF00041 PF07714
CDD:   cd00063

PDB:  
2C5D 4RA0
PDBsum:   2C5D 4RA0
MINT:   2735752
STRING:   ENSP00000301178;
Other Databases GeneCards:  AXL;  Malacards:  AXL

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001618 virus receptor activity
IEA molecular_function
GO:0001764 neuron migration
IEA biological_process
GO:0001779 natural killer cell diffe
rentiation
IEA biological_process
GO:0001786 phosphatidylserine bindin
g
IDA molecular_function
GO:0001961 positive regulation of cy
tokine-mediated signaling
pathway
IDA biological_process
GO:0001974 blood vessel remodeling
IEA biological_process
GO:0004713 protein tyrosine kinase a
ctivity
EXP molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005622 intracellular
IEA 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:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006909 phagocytosis
IDA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007283 spermatogenesis
IEA biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0018108 peptidyl-tyrosine phospho
rylation
IEA biological_process
GO:0021885 forebrain cell migration
IEA biological_process
GO:0030168 platelet activation
IEA biological_process
GO:0031668 cellular response to extr
acellular stimulus
IEA biological_process
GO:0032689 negative regulation of in
terferon-gamma production
IDA biological_process
GO:0032720 negative regulation of tu
mor necrosis factor produ
ction
IEA biological_process
GO:0032825 positive regulation of na
tural killer cell differe
ntiation
IDA biological_process
GO:0032940 secretion by cell
IEA biological_process
GO:0034101 erythrocyte homeostasis
IEA biological_process
GO:0034446 substrate adhesion-depend
ent cell spreading
IEA biological_process
GO:0035457 cellular response to inte
rferon-alpha
IDA biological_process
GO:0042698 ovulation cycle
IEA biological_process
GO:0043277 apoptotic cell clearance
IEA biological_process
GO:0043491 protein kinase B signalin
g
IEA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IEA biological_process
GO:0044228 host cell surface
IDA cellular_component
GO:0045087 innate immune response
IEA biological_process
GO:0046718 viral entry into host cel
l
IMP biological_process
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048469 cell maturation
IEP biological_process
GO:0048549 positive regulation of pi
nocytosis
IMP biological_process
GO:0051250 negative regulation of ly
mphocyte activation
IEA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IEA biological_process
GO:0060068 vagina development
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071222 cellular response to lipo
polysaccharide
IDA biological_process
GO:0097028 dendritic cell differenti
ation
IEP biological_process
GO:2000669 negative regulation of de
ndritic cell apoptotic pr
ocess
IDA biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0001618 virus receptor activity
IEA molecular_function
GO:0001764 neuron migration
IEA biological_process
GO:0001779 natural killer cell diffe
rentiation
IEA biological_process
GO:0001786 phosphatidylserine bindin
g
IDA molecular_function
GO:0001961 positive regulation of cy
tokine-mediated signaling
pathway
IDA biological_process
GO:0001974 blood vessel remodeling
IEA biological_process
GO:0002376 immune system process
IEA biological_process
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
EXP molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005622 intracellular
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA 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:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006909 phagocytosis
IEA biological_process
GO:0006909 phagocytosis
IDA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007167 enzyme linked receptor pr
otein signaling pathway
IEA biological_process
GO:0007283 spermatogenesis
IEA biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0018108 peptidyl-tyrosine phospho
rylation
IEA biological_process
GO:0021885 forebrain cell migration
IEA biological_process
GO:0030154 cell differentiation
IEA biological_process
GO:0030168 platelet activation
IEA biological_process
GO:0031668 cellular response to extr
acellular stimulus
IEA biological_process
GO:0032689 negative regulation of in
terferon-gamma production
IDA biological_process
GO:0032720 negative regulation of tu
mor necrosis factor produ
ction
IEA biological_process
GO:0032825 positive regulation of na
tural killer cell differe
ntiation
IDA biological_process
GO:0032940 secretion by cell
IEA biological_process
GO:0034101 erythrocyte homeostasis
IEA biological_process
GO:0034446 substrate adhesion-depend
ent cell spreading
IEA biological_process
GO:0035457 cellular response to inte
rferon-alpha
IDA biological_process
GO:0042698 ovulation cycle
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043277 apoptotic cell clearance
IEA biological_process
GO:0043491 protein kinase B signalin
g
IEA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IEA biological_process
GO:0044228 host cell surface
IDA cellular_component
GO:0045087 innate immune response
IEA biological_process
GO:0046718 viral entry into host cel
l
IMP biological_process
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048469 cell maturation
IEP biological_process
GO:0048549 positive regulation of pi
nocytosis
IMP biological_process
GO:0051250 negative regulation of ly
mphocyte activation
IEA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IEA biological_process
GO:0060068 vagina development
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071222 cellular response to lipo
polysaccharide
IDA biological_process
GO:0097028 dendritic cell differenti
ation
IEP biological_process
GO:2000669 negative regulation of de
ndritic cell apoptotic pr
ocess
IDA biological_process
GO:0001786 phosphatidylserine bindin
g
IDA molecular_function
GO:0001961 positive regulation of cy
tokine-mediated signaling
pathway
IDA biological_process
GO:0004713 protein tyrosine kinase a
ctivity
EXP molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
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:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006909 phagocytosis
IDA biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0032689 negative regulation of in
terferon-gamma production
IDA biological_process
GO:0032825 positive regulation of na
tural killer cell differe
ntiation
IDA biological_process
GO:0035457 cellular response to inte
rferon-alpha
IDA biological_process
GO:0044228 host cell surface
IDA cellular_component
GO:0046718 viral entry into host cel
l
IMP biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048469 cell maturation
IEP biological_process
GO:0048549 positive regulation of pi
nocytosis
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071222 cellular response to lipo
polysaccharide
IDA biological_process
GO:0097028 dendritic cell differenti
ation
IEP biological_process
GO:2000669 negative regulation of de
ndritic cell apoptotic pr
ocess
IDA biological_process

KEGG pathways

hsa01521  EGFR tyrosine kinase inhibitor resistance

Diseases

Associated diseases References
Endometrial cancer PMID: 27764792
Endometriosis PMID: 19055724
Male infertility PMID: 24762434
Ovarian endometriosis PMID: 12029073
Ovarian endometriosis PMID: 12029073
Endometriosis INFBASE19055724
Ovarian endometriosis INFBASE12029073

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19055724 Endometrio
sis

4 (3 endometrio
tic tissues, 1
normal endometr
ium sample )
MMP1
MMP2
MMP3
MMP10
MMP11
MMP14
AXL
SHC1
ACTN4
PI3KCA
p-AKT
p-mTOR
and p-ERK
Show abstract
12029073 Endometrio
sis (ovari
an)


Gas6
Axl
Sky
Show abstract