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

Gene ID: 151188, updated on 3-Nov-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, Nov 2024]
Expression
Ubiquitous expression in placenta (RPKM 7.1), bone marrow (RPKM 6.2) and 25 other tissues See more
Orthologs
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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 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. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
  3. 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
  4. 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
  5. A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. Gordon DE, et al. Nature, 2020 Jul. PMID 32353859, 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)

Genotypes

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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