ALKAL1 ALK and LTK ligand 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALKAL1provided by HGNC
Official Full Name: ALK and LTK ligand 1provided by HGNC
Primary source: HGNC:HGNC:33775
See related: Ensembl:ENSG00000196711 MIM:619670; AllianceGenome:HGNC:33775
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AUGA; AUGB; FAM150A; UNQ9433
Summary: Enables receptor signaling protein tyrosine kinase activator activity and receptor tyrosine kinase binding activity. Involved in positive regulation of ERK1 and ERK2 cascade; positive regulation of ERK5 cascade; and positive regulation of neuron projection development. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in gall bladder (RPKM 1.3), thyroid (RPKM 1.1) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q11.23

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (52534037..52565430, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (52910076..52941473, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (53446597..53477990, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

activation of ALK/LTK family receptors by small ALKAL proteins (FAM150, AUG) conserved in vertebrates
Title: ALKALs are in vivo ligands for ALK family receptor tyrosine kinases in the neural crest and derived cells.
In conclusion, these data show that ALK is robustly activated by the FAM150A/B ligands.
Title: FAM150A and FAM150B are activating ligands for anaplastic lymphoma kinase.
Data show that leukocyte tyrosine kinase (LTK) ligand FAM150A (augmentor-beta; AUG-beta) is specific for LTK and only weakly binds to anaplastic lymphoma kinase (ALK).
Title: Augmentor α and β (FAM150) are ligands of the receptor tyrosine kinases ALK and LTK: Hierarchy and specificity of ligand-receptor interactions.
Only two related secreted factors, FAM150A and FAM150B (family with sequence similarity 150 member A and member B), stimulated LTK phosphorylation.
Title: Deorphanization of the human leukocyte tyrosine kinase (LTK) receptor by a signaling screen of the extracellular proteome.

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor signaling protein tyrosine kinase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables receptor signaling protein tyrosine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor tyrosine kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables receptor tyrosine kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane receptor protein tyrosine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK5 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ERK5 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ALK and LTK ligand 1

Names: AUG-beta; RPLK9433; augmentor beta; augmentor-alpha; family with sequence similarity 150 member A; protein FAM150A

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.