ARL8B ARF like GTPase 8B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARL8Bprovided by HGNC
Official Full Name: ARF like GTPase 8Bprovided by HGNC
Primary source: HGNC:HGNC:25564
See related: Ensembl:ENSG00000134108 MIM:616596; AllianceGenome:HGNC:25564
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: Gie1; ARL10C
Summary: Enables G protein activity; guanyl ribonucleotide binding activity; and tubulin binding activity. Involved in several processes, including antigen processing and presentation following phagocytosis; cytosolic transport; and vesicle fusion. Located in cytolytic granule membrane; midbody; and spindle midzone. Is active in early endosome membrane and lysosomal membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 48.8), thyroid (RPKM 43.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p26.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (5122292..5180911)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (5116223..5174843)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (5163977..5222596)

Chromosome 3 - NC_000003.12 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 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?

RUFY1 binds Arl8b and mediates endosome-to-TGN CI-M6PR retrieval for cargo sorting to lysosomes.
Title: RUFY1 binds Arl8b and mediates endosome-to-TGN CI-M6PR retrieval for cargo sorting to lysosomes.
Arl8b contributes to the recruitment of LAMP1 to Salmonella-induced tubules. Salmonella SifA protein interacts with Arl8b.
Title: Contribution of bacterial effectors and host proteins to the composition and function of Salmonella-induced tubules.
These findings suggest that membrane repair mediated by Arl8b may be an important mechanism distinguishing avirulent from virulent M. tuberculosis-induced necrotic cell death
Title: Lysosome-Mediated Plasma Membrane Repair Is Dependent on the Small GTPase Arl8b and Determines Cell Death Type in Mycobacterium tuberculosis Infection.
Authors present evidence that Arl8b facilitates lipid hydrolysis to maintain efficient metabolism for a proliferative capacity in low nutrient environments, suggesting a likely explanation for the complete inability of Arl8b-depleted tumor cells to grow in vivo.
Title: The Arf-like GTPase Arl8b is essential for three-dimensional invasive growth of prostate cancer in vitro and xenograft formation and growth in vivo.
LAMTOR1 is a negative regulator of Arl8b- and BORC-dependent late endosomal positioning.
Title: LAMTOR/Ragulator is a negative regulator of Arl8b- and BORC-dependent late endosomal positioning.
Data indicate that E3 ubiquitin-protein ligase RNF167 ubiquitinates Arl8B at the lysine residue K141 and reduces the level of the ADP-ribosylation factor-like 8B Arl8B protein.
Title: RNF167 targets Arl8B for degradation to regulate lysosome positioning and endocytic trafficking.
Arl8b regulates the association of the human HOPS complex with lysosomal membranes.
Title: The small GTPase Arl8b regulates assembly of the mammalian HOPS complex on lysosomes.
a small GTP-binding protein, ADP-ribosylation factor-like 8b (Arl8b), is identified as a critical factor required for NK cell-mediated cytotoxicity.
Title: Arf-like GTPase Arl8b regulates lytic granule polarization and natural killer cell-mediated cytotoxicity.
The authors find that Arl8B is required for kinesin-1 recruitment to Salmonella-containing vacuoles, migration of the vacuoles to the cell periphery 24 h after infection and for cell-to-cell transfer of bacteria to neighbouring cells.
Title: Salmonella exploits Arl8B-directed kinesin activity to promote endosome tubulation and cell-to-cell transfer.
a critical regulator of cargo delivery to lysosomes
Title: Lysosomal trafficking, antigen presentation, and microbial killing are controlled by the Arf-like GTPase Arl8b.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

EBI GWAS Catalog

Description
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
Tat	tat	Expression of HIV-1 Tat upregulates the abundance of ADP-ribosylation factor-like 8B (ARL8B) in the nucleoli of Jurkat T-cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S2357 (e-PCR)
- UniSTS:12569

D3S2771E (e-PCR)
- UniSTS:150811

SHGC-76669 (e-PCR)
- UniSTS:83239

D3S2799E (e-PCR)
- UniSTS:150837

RH98975 (e-PCR)
- UniSTS:90943

RH68941 (e-PCR)
- UniSTS:89162

1612 (e-PCR)
- UniSTS:43419

SHGC-76670 (e-PCR)
- UniSTS:6046

SHGC-81116 (e-PCR)
- UniSTS:102335

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein activity	IDA Inferred from Direct Assay more info	PubMed
enables GDP binding	IDA Inferred from Direct Assay more info	PubMed
enables GDP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	NAS Non-traceable Author Statement more info	PubMed
enables alpha-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in antigen processing and presentation following phagocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in antigen processing and presentation of polysaccharide antigen via MHC class II	ISS Inferred from Sequence or Structural Similarity more info
involved_in autophagosome-lysosome fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion regulated lysosome exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in early endosome to Golgi transport	IDA Inferred from Direct Assay more info	PubMed
involved_in endosome to lysosome transport of low-density lipoprotein particle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in late endosome to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in late endosome to lysosome transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in lysosome localization	IDA Inferred from Direct Assay more info	PubMed
involved_in lysosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in natural killer cell mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagosome-lysosome fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to early endosome	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in viral exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytolytic granule membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	HDA more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in spindle midzone	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ADP-ribosylation factor-like protein 8B

Names: ADP ribosylation factor like GTPase 8B; ADP-ribosylation factor-like 10C; ADP-ribosylation factor-like 8B; ADP-ribosylation factor-like protein 10C; GTPase indispensable for equal segregation of chromosomes 1; novel small G protein indispensable for equal chromosome segregation 1

NP_060654.1

EC 3.6.5.2

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.