AXL AXL receptor tyrosine kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: AXLprovided by HGNC
Official Full Name: AXL receptor tyrosine kinaseprovided by HGNC
Primary source: HGNC:HGNC:905
See related: Ensembl:ENSG00000167601 MIM:109135; AllianceGenome:HGNC:905
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARK; UFO; AXL3; JTK11; Tyro7
Summary: 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. The encoded protein acts as a host cell receptor for multiple viruses, including Marburg, Ebola and Lassa viruses and is a candidate receptor for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Expression: Ubiquitous expression in spleen (RPKM 20.7), endometrium (RPKM 15.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (41219223..41261766)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (44040107..44082625)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41725128..41767671)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

First evidence of AXL expression on circulating tumor cells in metastatic breast cancer patients: A proof-of-concept study.
Title: First evidence of AXL expression on circulating tumor cells in metastatic breast cancer patients: A proof-of-concept study.
Aberrant activation of AXL may drive progression of squamous cell carcinoma in CLL patients: a mechanistic study with clinical implications.
Title: Aberrant activation of AXL may drive progression of squamous cell carcinoma in CLL patients: a mechanistic study with clinical implications.
Serum GAS6, sAXL, IL-10, NO, and BCL-2 levels are decreased in patients with Behcet's disease.
Title: Serum GAS6, sAXL, IL-10, NO, and BCL-2 levels are decreased in patients with Behçet's disease.
ARRDC3 regulates the targeted therapy sensitivity of clear cell renal cell carcinoma by promoting AXL degradation.
Title: ARRDC3 regulates the targeted therapy sensitivity of clear cell renal cell carcinoma by promoting AXL degradation.
Signaling Pathways of AXL Receptor Tyrosine Kinase Contribute to the Pathogenetic Mechanisms of Glioblastoma.
Title: Signaling Pathways of AXL Receptor Tyrosine Kinase Contribute to the Pathogenetic Mechanisms of Glioblastoma.
AXL signal mediates adaptive resistance to KRAS G12C inhibitors in KRAS G12C-mutant tumor cells.
Title: AXL signal mediates adaptive resistance to KRAS G12C inhibitors in KRAS G12C-mutant tumor cells.
Axl and MerTK regulate synovial inflammation and are modulated by IL-6 inhibition in rheumatoid arthritis.
Title: Axl and MerTK regulate synovial inflammation and are modulated by IL-6 inhibition in rheumatoid arthritis.
AXL/WRNIP1 Mediates Replication Stress Response and Promotes Therapy Resistance and Metachronous Metastasis in HER2+ Breast Cancer.
Title: AXL/WRNIP1 Mediates Replication Stress Response and Promotes Therapy Resistance and Metachronous Metastasis in HER2+ Breast Cancer.
AXL - a new player in resistance to HER2 blockade.
Title: AXL - a new player in resistance to HER2 blockade.
AXL receptor tyrosine kinase modulates gonadotropin-releasing hormone receptor signaling.
Title: AXL receptor tyrosine kinase modulates gonadotropin-releasing hormone receptor signaling.

Submit: New GeneRIF Correction See all GeneRIFs (340)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypogonadotropic hypogonadism 7 with or without anosmia MedGen: C0342384 OMIM: 146110 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr upregulates the gene expression of AXL in human monocyte-derived dendritic cells	PubMed
capsid	gag	AXL inhibits the release of HIV-1 in terms of reduced levels of CA in virus particles and induces the accumulation of cell-associated CA	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-12719 (e-PCR)
- UniSTS:52240

RH11461 (e-PCR)
- UniSTS:52241

D5S2354 (e-PCR)
- UniSTS:473392

RH36144 (e-PCR)
- UniSTS:39232

STS-T27746 (e-PCR)
- UniSTS:52340

STS-W84423 (e-PCR)
- UniSTS:22391

Axl (e-PCR), detects polymorphism
- UniSTS:496039

STS-T15634 (e-PCR)
- UniSTS:57269

GDB:188778 (e-PCR)
- UniSTS:155582

GDB:188779 (e-PCR)
- UniSTS:155583

GDB:188780 (e-PCR)
- UniSTS:155584

GDB:188781 (e-PCR)
- UniSTS:155585

GDB:188782 (e-PCR)
- UniSTS:155586

GDB:188783 (e-PCR)
- UniSTS:155587

GDB:191076 (e-PCR)
- UniSTS:155639

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables myosin heavy chain binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol 3-kinase binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylserine binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activity	EXP Inferred from Experiment more info	PubMed
enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables virus receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in cell maturation	IEP Inferred from Expression Pattern more info	PubMed
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interferon-alpha	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in dendritic cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in erythrocyte homeostasis	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in forebrain cell migration	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in natural killer cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of dendritic cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lymphocyte activation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of macrophage cytokine production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of type II interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in neutrophil clearance	IEA Inferred from Electronic Annotation more info
involved_in ovulation cycle	IEA Inferred from Electronic Annotation more info
involved_in phagocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of natural killer cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of pinocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of viral life cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in response to axon injury	IEA Inferred from Electronic Annotation more info
involved_in secretion by cell	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
involved_in symbiont entry into host cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vagina development	IEA Inferred from Electronic Annotation more info
involved_in vascular endothelial growth factor receptor signaling pathway	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
located_in cell surface	HDA more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tyrosine-protein kinase receptor UFO

Names: AXL oncogene; AXL transforming sequence/gene

NP_001265528.1

EC 2.7.10.1

NP_001690.2

EC 2.7.10.1

NP_068713.2

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001278599.2 → NP_001265528.1 tyrosine-protein kinase receptor UFO isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks four alternate exons in the 5' coding region and initiates translation at a downstream AUG, compared to variant 1. It encodes isoform 3 which has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AI300772, AI309979, AK309139, CA437238, X66029

Consensus CDS

CCDS62677.1

UniProtKB/TrEMBL

M0R0W6

Related

ENSP00000471497.1, ENST00000593513.1

Conserved Domains (4) summary

smart00221
Location:270 → 535

STYKc; Protein kinase; unclassified specificity

cd00063
Location:20 → 60

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05075
Location:267 → 543

PTKc_Axl; Catalytic domain of the Protein Tyrosine Kinase, Axl

pfam00041
Location:67 → 150

fn3; Fibronectin type III domain
NM_001699.6 → NP_001690.2 tyrosine-protein kinase receptor UFO isoform 2 precursor

See identical proteins and their annotated locations for NP_001690.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter than isoform 1.

Source sequence(s)

AI300772, AI309979, AK309139, AL556721, BC032229, CA437238, HY045208, M76125, X66029

Consensus CDS

CCDS12574.1

UniProtKB/Swiss-Prot

P30530

Related

ENSP00000351995.2, ENST00000359092.7

Conserved Domains (7) summary

cd00096
Location:53 → 126

Ig; Immunoglobulin domain

cd05749
Location:141 → 222

Ig2_Tyro3_like; Second immunoglobulin (Ig)-like domain of Axl/Tyro3 receptor tyrosine kinases (RTKs)

smart00221
Location:529 → 794

STYKc; Protein kinase; unclassified specificity

smart00410
Location:145 → 223

IG_like; Immunoglobulin like

cd00063
Location:225 → 328

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05075
Location:526 → 802

PTKc_Axl; Catalytic domain of the Protein Tyrosine Kinase, Axl

pfam00041
Location:335 → 418

fn3; Fibronectin type III domain
NM_021913.5 → NP_068713.2 tyrosine-protein kinase receptor UFO isoform 1 precursor

See identical proteins and their annotated locations for NP_068713.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AI300772, AI309979, AK309139, AL556721, BC032229, CA437238, HY045208, X66029

Consensus CDS

CCDS12575.1

UniProtKB/Swiss-Prot

P30530, Q8N5L2, Q9UD27

Related

ENSP00000301178.3, ENST00000301178.9

Conserved Domains (5) summary

cd05749
Location:141 → 222

Ig2_Axl_Tyro3_like; Second immunoglobulin (Ig)-like domain of Axl/Tyro3 family receptor tyrosine kinases (RTKs)

cd00063
Location:225 → 328

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05075
Location:535 → 811

PTKc_Axl; Catalytic domain of the Protein Tyrosine Kinase, Axl

pfam00041
Location:335 → 418

fn3; Fibronectin type III domain

cd00096
Location:53 → 119

Ig; Immunoglobulin domain