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    ARL8A ARF like GTPase 8A [ Homo sapiens (human) ]

    Gene ID: 127829, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ARL8Aprovided by HGNC
    Official Full Name
    ARF like GTPase 8Aprovided by HGNC
    Primary source
    HGNC:HGNC:25192
    See related
    Ensembl:ENSG00000143862 MIM:616597; AllianceGenome:HGNC:25192
    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
    GIE2; ARL10B
    Summary
    Enables GTP binding activity. Predicted to be involved in anterograde axonal transport and chromosome segregation. Located in cytoplasm; midbody; and spindle midzone. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 56.4), bone marrow (RPKM 24.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARL8A in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (202133404..202144737, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (201390975..201402296, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202102532..202113865, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371684 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:202072166-202073140 Neighboring gene cysteine rich protein 1 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202073141-202074115 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202077042-202078015 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10703 Neighboring gene uncharacterized LOC105371683 Neighboring gene G protein-coupled receptor 37 like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202099011-202099794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202099795-202100578 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:202104477-202104684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1699 Neighboring gene protein tyrosine phosphatase non-receptor type 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202132551-202133219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202133799-202134299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202134943-202135522 Neighboring gene protein tyrosine phosphatase receptor type V, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202152613-202153112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202153807-202154336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202154337-202154866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1700

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. An N-terminally acetylated Arf-like GTPase is localised to lysosomes and affects their motility. Hofmann I, et al. J Cell Sci, 2006 Apr 15. PMID 16537643
    2. Exploration of panviral proteome: high-throughput cloning and functional implications in virus-host interactions. Yu X, et al. Theranostics, 2014. PMID 24955142, Free PMC Article
    3. Novel small GTPase subfamily capable of associating with tubulin is required for chromosome segregation. Okai T, et al. J Cell Sci, 2004 Sep 15. PMID 15331635
    4. The Rab7 effector PLEKHM1 binds Arl8b to promote cargo traffic to lysosomes. Marwaha R, et al. J Cell Biol, 2017 Apr 3. PMID 28325809, Free PMC Article
    5. Drosophila Topors is a RING finger-containing protein that functions as a ubiquitin-protein isopeptide ligase for the hairy basic helix-loop-helix repressor protein. Secombe J, et al. J Biol Chem, 2004 Apr 23. PMID 14871887

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Homology

    Clone Names

    • FLJ45195

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables alpha-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables beta-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    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 cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane HDA PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    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 8A
    Names
    ADP ribosylation factor like GTPase 8A
    ADP-ribosylation factor-like 10B
    ADP-ribosylation factor-like 8A
    GTPase indispensable for equal segregation of chromosomes 2
    novel small G protein indispensable for equal chromosome segregation 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.

    mRNA and Protein(s)

    1. NM_001256129.2 → NP_001243058.1  ADP-ribosylation factor-like protein 8A isoform 2

      See identical proteins and their annotated locations for NP_001243058.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AK127138, AW090198, BC069053, BG876867, BP325806
      Consensus CDS
      CCDS73004.1
      UniProtKB/TrEMBL
      A0A087X2J2
      Related
      ENSP00000485023.1, ENST00000614750.1
      Conserved Domains (1) summary
      cd04159
      Location:22 → 128
      Arl10_like; Arf-like 9 (Arl9) and 10 (Arl10) GTPases

    2. NM_138795.4 → NP_620150.1  ADP-ribosylation factor-like protein 8A isoform 1

      See identical proteins and their annotated locations for NP_620150.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AW090198, BC015408, BC069053, BP325806
      Consensus CDS
      CCDS1421.1
      UniProtKB/Swiss-Prot
      B3KXD0, Q96BM9
      UniProtKB/TrEMBL
      B2R7U5
      Related
      ENSP00000272217.2, ENST00000272217.7
      Conserved Domains (1) summary
      cd04159
      Location:22 → 180
      Arl10_like; Arf-like 9 (Arl9) and 10 (Arl10) GTPases

    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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      202133404..202144737 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      201390975..201402296 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BM9.1 GenPept UniProtKB/Swiss-Prot:Q96BM9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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