GAS6 growth arrest specific 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GAS6provided by HGNC
Official Full Name: growth arrest specific 6provided by HGNC
Primary source: HGNC:HGNC:4168
See related: Ensembl:ENSG00000183087 MIM:600441; AllianceGenome:HGNC:4168
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: AXSF; AXLLG
Summary: This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014]
Expression: Ubiquitous expression in lung (RPKM 64.9), endometrium (RPKM 57.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q34

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (113820549..113864076, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (113029283..113074357, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (114523522..114567049, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Duodenal mucosa of untreated celiac disease patients has altered expression of the GAS6 and PROS1 and the negative regulator tyrosine kinase TAM receptors subfamily.
Title: Duodenal mucosa of untreated celiac disease patients has altered expression of the GAS6 and PROS1 and the negative regulator tyrosine kinase TAM receptors subfamily.
Replication Study of the Association of GAS6 and PROS1 Polymorphisms with Behcet's Disease in a Japanese Population.
Title: Replication Study of the Association of GAS6 and PROS1 Polymorphisms with Behçet's Disease in a Japanese Population.
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.
Influence of serum Gas6 levels on prognosis in patients with hepatocellular carcinoma.
Title: Influence of serum Gas6 levels on prognosis in patients with hepatocellular carcinoma.
The role of the Gas6/TAM signal pathway in the LPS-induced pulmonary epithelial cells injury.
Title: The role of the Gas6/TAM signal pathway in the LPS-induced pulmonary epithelial cells injury.
AXL/Gas6 signaling mechanisms in the hypothalamic-pituitary-gonadal axis.
Title: AXL/Gas6 signaling mechanisms in the hypothalamic-pituitary-gonadal axis.
Down-regulated GAS6 impairs synovial macrophage efferocytosis and promotes obesity-associated osteoarthritis.
Title: Down-regulated GAS6 impairs synovial macrophage efferocytosis and promotes obesity-associated osteoarthritis.
Growth Arrest-Specific 6 in Chromophobe Renal Cell Carcinoma.
Title: Growth Arrest-Specific 6 in Chromophobe Renal Cell Carcinoma.
GAS6/TAM signaling pathway controls MICA expression in multiple myeloma cells.
Title: GAS6/TAM signaling pathway controls MICA expression in multiple myeloma cells.
Immunological Aspects of AXL/GAS-6 in the Context of Human Liver Regeneration.
Title: Immunological Aspects of AXL/GAS-6 in the Context of Human Liver Regeneration.

Submit: New GeneRIF Correction See all GeneRIFs (187)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31188 (e-PCR)
- UniSTS:67858

G65671 (e-PCR)
- UniSTS:225463

STS-L13720 (e-PCR)
- UniSTS:53475

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor ligand activity	IBA Inferred from Biological aspect of Ancestor more info
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of protein kinase B activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in apoptotic cell clearance	IDA Inferred from Direct Assay more info	PubMed
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-substrate adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to growth factor stimulus	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 starvation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to vitamin K	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in dendritic cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in enzyme-linked receptor protein signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in fibroblast apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in fusion of virus membrane with host plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in hematopoietic stem cell migration to bone marrow	IDA Inferred from Direct Assay more info	PubMed
involved_in myeloid cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of biomineral tissue development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of dendritic cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of fibroblast apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-1 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of myeloid cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of oligodendrocyte apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of renal albumin absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of type II interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in phagocytosis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of TOR signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cytokine-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dendritic cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of fibroblast proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fibroblast proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of glomerular filtration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of natural killer cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein export from nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor-mediated virion attachment to host cell	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in symbiont entry into host cell	IDA Inferred from Direct Assay more info	PubMed
involved_in viral genome replication	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: growth arrest-specific protein 6

Names: AXL receptor tyrosine kinase ligand; AXL stimulatory factor

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.

Genomic

NG_029703.1 RefSeqGene

Range

4998..48525

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000820.4 → NP_000811.1 growth arrest-specific protein 6 precursor

See identical proteins and their annotated locations for NP_000811.1

Status: REVIEWED

Source sequence(s)

AA045119, BC038984, HY038614

Consensus CDS

CCDS45072.1

UniProtKB/Swiss-Prot

B3KRQ7, B3KVL4, E9PBL7, Q14393, Q6IMN1, Q7Z7N3

Related

ENSP00000331831.6, ENST00000327773.7

Conserved Domains (7) summary

smart00179
Location:197 → 227

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:118 → 153

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:298 → 450

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00594
Location:53 → 92

Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

pfam02210
Location:513 → 651

Laminin_G_2; Laminin G domain

pfam14670
Location:160 → 195

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:232 → 273

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

113820549..113864076 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

113029283..113074357 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054374422.1 → XP_054230397.1 growth arrest-specific protein 6 isoform X1

UniProtKB/TrEMBL

B4DZY7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001143945.1: Suppressed sequence

Description

NM_001143945.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_001143946.1: Suppressed sequence

Description

NM_001143946.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.