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    ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 23204, updated on 17-Jun-2024

    Summary

    Official Symbol
    ARL6IP1provided by HGNC
    Official Full Name
    ADP ribosylation factor like GTPase 6 interacting protein 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
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    Genomic context

    See ARL6IP1 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (18791667..18801549, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (18728102..18737985, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001313858.1NP_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_015161.3NP_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_2023_10

    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)