• Gene id: 558

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 fibron
• OMIM: 109135

SNPs

rs3749474

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55434518C>T
NC_000004.11   g.56300685C>T
NM_004898.4   c.*897G>A
NM_004898.3   c.*897G>A
XM_011534409.2   c.*897G>A
XM_005265787.2   c.*897G>A
XM_005265787.1   c.*897G>A
XM_011534410.2   c.*897G>A
XM_011534411.2   c.*897G>A
NM_001267843.1   c.*897G>A
XM  

rs1801260

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55435202A>G
NC_000004.11   g.56301369A>G
NM_004898.4   c.*213T>C
NM_004898.3   c.*213T>C
XM_011534409.2   c.*213T>C
XM_005265787.2   c.*213T>C
XM_005265787.1   c.*213T>C
XM_011534410.2   c.*213T>C
XM_011534411.2   c.*213T>C
NM_001267843.1   c.*213T>C
XM  

rs6811520

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55449011T>C
NC_000004.11   g.56315178T>C|SEQ=[T/C]|GENE=CLOCK
TMEM165   55858

rs779944215

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000001.11   g.167880125_167880126GT[1]
NC_000001.10   g.167849363_167849364GT[1]
NG_016139.1   g.39088_39089AC[1]
NM_018417.6   c.1203_1204AC[1]
NM_018417.5   c.1203_1204AC[1]
NM_018417.4   c.1203_1204AC[1]
NM_001167749.3   c.744_745AC[1]
NM_001167749.2   c.744_7

rs34605051

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.86466703T>C
NC_000002.11   g.86693826T>C
NG_047167.1   g.31057T>C
NM_018433.6   c.1339T>C
NM_018433.5   c.1339T>C
NM_001146688.1   c.1339T>C
XM_006712051.4   c.-637T>C
XM_024452995.1   c.1339T>C
XM_024452994.1   c.1339T>C
XM_017004494.1   c.484T>C
XM_02  

Protein Summary

• Protein general information: P30530  
  • Name: Tyrosine protein kinase receptor UFO (EC 2.7.10.1) (AXL oncogene)
  • Length: 894  
  • Mass: 98,337
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MAWRCPRMGRVPLAWCLALCGWACMAPRGTQAEESPFVGNPGNITGARGLTGTLRCQLQVQGEPPEVHWLRDGQI
  LELADSTQTQVPLGEDEQDDWIVVSQLRITSLQLSDTGQYQCLVFLGHQTFVSQPGYVGLEGLPYFLEEPEDRTV
  AANTPFNLSCQAQGPPEPVDLLWLQDAVPLATAPGHGPQRSLHVPGLNKTSSFSCEAHNAKGVTTSRTATITVLP
  QQPRNLHLVSRQPTELEVAWTPGLSGIYPLTHCTLQAVLSDDGMGIQAGEPDPPEEPLTSQASVPPHQLRLGSLH
  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  IPR036116  IPR007110  IPR036179  IPR013783   IPR003599  IPR011009  IPR000719  IPR017441  IPR001245  IPR008266  IPR020635  
  • Prosite: PS50853 PS50835 PS00107 PS50011 PS00109
  • CDD: cd00063
  • PDB: 2C5D 4RA0 5U6B 5VXZ
  • PDBsum: 2C5D 4RA0 5U6B 5VXZ
  • STRING: ENSP00000301178
• Other Databases: GeneCards:  AXL  Malacards:  AXL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001618	virus receptor activity	IEA	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0001779	natural killer cell differentiation	IEA	biological process
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:0001961	positive regulation of cytokine-mediated signaling pathway	IDA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	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 plasma 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 phosphorylation	IEA	biological process
GO:0021885	forebrain cell migration	IEA	biological process
GO:0030168	platelet activation	IEA	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0032689	negative regulation of interferon-gamma production	IDA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IEA	biological process
GO:0032825	positive regulation of natural killer cell differentiation	IDA	biological process
GO:0032940	secretion by cell	IEA	biological process
GO:0034101	erythrocyte homeostasis	IEA	biological process
GO:0034446	substrate adhesion-dependent cell spreading	IEA	biological process
GO:0035457	cellular response to interferon-alpha	IDA	biological process
GO:0042698	ovulation cycle	IEA	biological process
GO:0043277	apoptotic cell clearance	IEA	biological process
GO:0043491	protein kinase B signaling	IEA	biological process
GO:0043524	negative regulation of neuron 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 cell	IMP	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0048469	cell maturation	IEP	biological process
GO:0048549	positive regulation of pinocytosis	IMP	biological process
GO:0051250	negative regulation of lymphocyte activation	IEA	biological process
GO:0051897	positive regulation of protein 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 lipopolysaccharide	IDA	biological process
GO:0097028	dendritic cell differentiation	IEP	biological process
GO:2000669	negative regulation of dendritic cell apoptotic process	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 differentiation	IEA	biological process
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:0001961	positive regulation of cytokine-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 activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	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 plasma 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 protein 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 membrane	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 phosphorylation	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 extracellular stimulus	IEA	biological process
GO:0032689	negative regulation of interferon-gamma production	IDA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IEA	biological process
GO:0032825	positive regulation of natural killer cell differentiation	IDA	biological process
GO:0032940	secretion by cell	IEA	biological process
GO:0034101	erythrocyte homeostasis	IEA	biological process
GO:0034446	substrate adhesion-dependent cell spreading	IEA	biological process
GO:0035457	cellular response to interferon-alpha	IDA	biological process
GO:0042698	ovulation cycle	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043277	apoptotic cell clearance	IEA	biological process
GO:0043491	protein kinase B signaling	IEA	biological process
GO:0043524	negative regulation of neuron 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 cell	IMP	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0048469	cell maturation	IEP	biological process
GO:0048549	positive regulation of pinocytosis	IMP	biological process
GO:0051250	negative regulation of lymphocyte activation	IEA	biological process
GO:0051897	positive regulation of protein 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 lipopolysaccharide	IDA	biological process
GO:0097028	dendritic cell differentiation	IEP	biological process
GO:2000669	negative regulation of dendritic cell apoptotic process	IDA	biological process
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:0001961	positive regulation of cytokine-mediated signaling pathway	IDA	biological process
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	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 plasma 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 interferon-gamma production	IDA	biological process
GO:0032825	positive regulation of natural killer cell differentiation	IDA	biological process
GO:0035457	cellular response to interferon-alpha	IDA	biological process
GO:0044228	host cell surface	IDA	cellular component
GO:0046718	viral entry into host cell	IMP	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0048469	cell maturation	IEP	biological process
GO:0048549	positive regulation of pinocytosis	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071222	cellular response to lipopolysaccharide	IDA	biological process
GO:0097028	dendritic cell differentiation	IEP	biological process
GO:2000669	negative regulation of dendritic cell apoptotic process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01521	EGFR tyrosine kinase inhibitor resistance

Diseases

Associated diseases	References
Atherosclerosis	GAD: 20664904
Ovarian endometriosis	INFBASE: 12029073
Male factor infertility	MIK: 24762434
Endometriosis	INFBASE: 19055724
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 24762434
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24762434	Male infertility		Japanes e, Chin ese	186 (47 NOA, 11 OA, 20 NOA, 10 OA, 18 healthy Chinese men with children, 12 healthy men who were semen donors, 15 healthy volunteers, 42 Chinese patients with NOA, 11 Chinese patients with OA)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq