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    ARL6IP1 ARL6 interacting reticulophagy regulator 1 [ Homo sapiens (human) ]

    Gene ID: 23204, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ARL6IP1provided by HGNC
    Official Full Name
    ARL6 interacting reticulophagy regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:697
    See related
    Ensembl:ENSG00000170540 MIM:607669; AllianceGenome:HGNC:697
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AIP1; ARMER; SPG61; ARL6IP
    Summary
    This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
    Expression
    Ubiquitous expression in brain (RPKM 151.5), adrenal (RPKM 96.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARL6IP1 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (18791667..18801549, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (18728102..18737985, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (18802989..18812871, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903655 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:18800609-18801326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10521 Neighboring gene ribosomal protein S15a Neighboring gene SMG1 nonsense mediated mRNA decay associated PI3K related kinase Neighboring gene small nucleolar RNA U13 Neighboring gene putative uncharacterized protein encoded by LINC00269

    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. Determination of topological structure of ARL6ip1 in cells: identification of the essential binding region of ARL6ip1 for conophylline. Kuroda M, et al. FEBS Lett, 2013 Nov 15. PMID 24076029
    2. Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia. Wakil SM, et al. BMC Med Genet, 2019 Jul 4. PMID 31272422, Free PMC Article
    3. ARL6IP1 mediates cisplatin-induced apoptosis in CaSki cervical cancer cells. Guo F, et al. Oncol Rep, 2010 May. PMID 20372863
    4. Inhibition of ADP-ribosylation factor-like 6 interacting protein 1 suppresses proliferation and reduces tumor cell invasion in CaSki human cervical cancer cells. Guo F, et al. Mol Biol Rep, 2010 Dec. PMID 20213509
    5. Characterization, chromosomal localization, and expression during hematopoietic differentiation of the gene encoding Arl6ip, ADP-ribosylation-like factor-6 interacting protein (ARL6). Pettersson M, et al. Genomics, 2000 Sep 15. PMID 10995579

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP). Phenotype associated with ARL6IP1 variants may be broader and more acute than so far reported and identifies fatal HSP as the severe end of the phenotypic spectrum of ARL6IP1 variants.
      Title: Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
    2. ARL6ip1 is a three-spanning transmembrane protein with a conophylline binding pocket.
      Title: Determination of topological structure of ARL6ip1 in cells: identification of the essential binding region of ARL6ip1 for conophylline.
    3. Down-regulation of ARL6IP1 expression arrested CaSki cell cycling at the G0/G1 phase and mitigated CaSki cell migration, determined by wound healing assays.
      Title: Inhibition of ADP-ribosylation factor-like 6 interacting protein 1 suppresses proliferation and reduces tumor cell invasion in CaSki human cervical cancer cells.
    4. ARL6IP1 may play a key role in cisplatin-induced apoptosis in CaSki cervical cancer cells by regulating the expression of apoptosis-associated proteins.
      Title: ARL6IP1 mediates cisplatin-induced apoptosis in CaSki cervical cancer cells.
    5. novel endoplasmic reticulum integral membrane protein which protects cells by inhibiting caspase-9 activity and reveal a possible role for ARMER in cell survival
      Title: ARMER, apoptotic regulator in the membrane of the endoplasmic reticulum, a novel inhibitor of apoptosis.
    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

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 61
    MedGen: C3810294 OMIM: 615685 GeneReviews: Not available
    		not available

    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

    • KIAA0069

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cotranslational protein targeting to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum tubular network formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in endoplasmic reticulum tubular network membrane organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of L-glutamate import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of endoplasmic reticulum tubular network organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Sec61 translocon complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum tubular network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ADP-ribosylation factor-like protein 6-interacting protein 1
    Names
    ADP ribosylation factor like GTPase 6 interacting protein 1
    ADP-ribosylation factor GTPase 6 interacting protein 1
    ADP-ribosylation factor-like 6 interacting protein 1
    ARF like GTPase 6 interacting protein 1
    ARL-6-interacting protein 1
    aip-1
    apoptotic regulator in the membrane of the endoplasmic reticulum

    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_042860.1 RefSeqGene

      Range
      5130..15010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001313858.1 → NP_001300787.1  ADP-ribosylation factor-like protein 6-interacting protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AI354532, AK301636, BC010281
      Consensus CDS
      CCDS81951.1
      UniProtKB/TrEMBL
      B7Z6R9
      Related
      ENSP00000440048.2, ENST00000546206.6

    2. NM_015161.3 → NP_055976.1  ADP-ribosylation factor-like protein 6-interacting protein 1 isoform 1

      See identical proteins and their annotated locations for NP_055976.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC010281, DC406882
      Consensus CDS
      CCDS10572.1
      UniProtKB/Swiss-Prot
      B7Z6S5, B7Z791, F5GXP4, Q15041
      UniProtKB/TrEMBL
      A8K522
      Related
      ENSP00000306788.7, ENST00000304414.12

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      18791667..18801549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      18728102..18737985 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15041.2 GenPept UniProtKB/Swiss-Prot:Q15041

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
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