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

Gene ID: 23204, updated on 1-Jun-2020

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
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

Genomic context

See ARL6IP1 in Genome Data Viewer
Location:
16p12.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (18791667..18801549, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (18802991..18812894, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10538 Neighboring gene ATP binding cassette subfamily C member 6 pseudogene 1 Neighboring gene ribosomal protein S15a Neighboring gene SMG1 nonsense mediated mRNA decay associated PI3K related kinase Neighboring gene putative uncharacterized protein encoded by LINC00269 Neighboring gene uncharacterized LOC107984844

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

Homology

Clone Names

  • KIAA0069

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Sec61 translocon complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 

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)

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/Swiss-Prot
    Q15041
    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
    Q15041
    UniProtKB/TrEMBL
    A0A024QYV7
    Related
    ENSP00000306788.7, ENST00000304414.12

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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