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    ARL6IP6 ARF like GTPase 6 interacting protein 6 [ Homo sapiens (human) ]

    Gene ID: 151188, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ARL6IP6provided by HGNC
    Official Full Name
    ARF like GTPase 6 interacting protein 6provided by HGNC
    Primary source
    HGNC:HGNC:24048
    See related
    Ensembl:ENSG00000177917 MIM:616495; AllianceGenome:HGNC:24048
    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
    AIP6; AIP-6; PFAAP1
    Summary
    Predicted to be located in nuclear inner membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 7.1), bone marrow (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARL6IP6 in Genome Data Viewer
    Location:
    2q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (152717648..152762396)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (153170194..153214953)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (153574162..153618910)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373689 Neighboring gene uncharacterized LOC105373688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153183153-153183652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153258063-153258564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153258565-153259064 Neighboring gene Sharpr-MPRA regulatory region 2662 Neighboring gene formin like 2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:153280187-153280913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153280914-153281639 Neighboring gene Sharpr-MPRA regulatory region 469 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:153309665-153310256 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:153310257-153310847 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:153312623-153313213 Neighboring gene nuclear distribution C pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:153357706-153358281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16649 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:153474731-153475930 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:153502126-153503325 Neighboring gene NANOG hESC enhancer GRCh37_chr2:153508427-153509132 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:153519134-153520333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16650 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:153557503-153558702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153558975-153559476 Neighboring gene pre-mRNA processing factor 40 homolog A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16655 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:153574523-153575228 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:153661367-153661578 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:153702825-153704024 Neighboring gene ubiquilin 4 pseudogene 2 Neighboring gene uncharacterized LOC105373691 Neighboring gene NANOG hESC enhancer GRCh37_chr2:153842337-153842838

    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. ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. Abumansour IS, et al. Hum Genet, 2015 Aug. PMID 25957586
    2. A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit. Ingley E, et al. FEBS Lett, 1999 Oct 1. PMID 10508919
    3. Virus-Host Interactome and Proteomic Survey Reveal Potential Virulence Factors Influencing SARS-CoV-2 Pathogenesis. Li J, et al. Med, 2021 Jan 15. PMID 32838362, Free PMC Article
    4. A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. Gordon DE, et al. Nature, 2020 Jul. PMID 32353859, Free PMC Article
    5. Therapeutic targeting of the USP2-E2F4 axis inhibits autophagic machinery essential for zinc homeostasis in cancer progression. Xiao W, et al. Autophagy, 2022 Nov. PMID 35253629, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ARL6IP6 as a novel candidate gene for a syndromic form of CMTC.
      Title: ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.
    Submit: New GeneRIF Correction

    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

    • MGC33864

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nuclear inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ADP-ribosylation factor-like protein 6-interacting protein 6
    Names
    ADP ribosylation factor like GTPase 6 interacting protein 6
    ADP-ribosylation factor GTPase 6 interacting protein 6
    ADP-ribosylation factor-like 6 interacting protein 6
    ADP-ribosylation-like factor 6 interacting protein 6
    ARL-6-interacting protein 6
    phosphonoformate immuno-associated protein 1
    regulated by phosphonoformate

    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

    1. NG_053091.1 RefSeqGene

      Range
      5928..49704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350068.2 → NP_001336997.1  ADP-ribosylation factor-like protein 6-interacting protein 6 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC079344
      Conserved Domains (1) summary
      pfam15062
      Location:42 → 118
      ARL6IP6; Haemopoietic lineage transmembrane helix

    2. NM_001371972.1 → NP_001358901.1  ADP-ribosylation factor-like protein 6-interacting protein 6 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC079344
      Consensus CDS
      CCDS92880.1
      UniProtKB/TrEMBL
      A0A8I5KQ30, B3KMZ5
      Related
      ENSP00000509648.1, ENST00000686080.1
      Conserved Domains (1) summary
      pfam15062
      Location:147 → 183
      ARL6IP6; Haemopoietic lineage transmembrane helix

    3. NM_152522.7 → NP_689735.1  ADP-ribosylation factor-like protein 6-interacting protein 6 isoform a

      See identical proteins and their annotated locations for NP_689735.1

      Status: VALIDATED

      Source sequence(s)
      AC079344
      Consensus CDS
      CCDS2197.1
      UniProtKB/Swiss-Prot
      B2RDS6, Q7Z4G7, Q8N6S5
      UniProtKB/TrEMBL
      B3KMZ5
      Related
      ENSP00000315357.5, ENST00000326446.10
      Conserved Domains (1) summary
      pfam15062
      Location:138 → 214
      ARL6IP6; Haemopoietic lineage transmembrane helix

    RNA

    1. NR_024526.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    2. NR_146422.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    3. NR_146423.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    4. NR_146424.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    5. NR_146425.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    6. NR_146426.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    7. NR_146427.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    8. NR_146428.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    9. NR_146429.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    10. NR_146430.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    11. NR_146431.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079344

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      152717648..152762396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007069661.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      153170194..153214953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486292.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6S5.1 GenPept UniProtKB/Swiss-Prot:Q8N6S5

    Gene LinkOut

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

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