Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ARL6IP1 Gene

Aliases for ARL6IP1 Gene

  • ADP Ribosylation Factor Like GTPase 6 Interacting Protein 1 2 3 5
  • Apoptotic Regulator In The Membrane Of The Endoplasmic Reticulum 3 4
  • ADP-Ribosylation Factor-Like 6 Interacting Protein 1 2 3
  • ARL-6-Interacting Protein 1 3 4
  • ARL6IP 3 4
  • AIP-1 3 4
  • ARMER 3 4
  • ADP-Ribosylation Factor-Like Protein 6-Interacting Protein 1 3
  • ADP-Ribosylation Factor GTPase 6 Interacting Protein 1 3
  • ADP-Ribosylation Factor-Like 6 Interacting Protein 2
  • KIAA0069 4
  • SPG61 3
  • AIP1 3

External Ids for ARL6IP1 Gene

Previous HGNC Symbols for ARL6IP1 Gene

  • ARL6IP

Previous GeneCards Identifiers for ARL6IP1 Gene

  • GC16M018711
  • GC16M017345

Summaries for ARL6IP1 Gene

Entrez Gene Summary for ARL6IP1 Gene

  • 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]

GeneCards Summary for ARL6IP1 Gene

ARL6IP1 (ADP Ribosylation Factor Like GTPase 6 Interacting Protein 1) is a Protein Coding gene. Diseases associated with ARL6IP1 include Spastic Paraplegia 61, Autosomal Recessive and Spastic Paraplegia 61. An important paralog of this gene is ENSG00000260342.

UniProtKB/Swiss-Prot for ARL6IP1 Gene

  • Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules (PubMed:24262037). Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-dependent substrates and downstream markers of apoptosis but not CASP9 itself (PubMed:12754298). May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation (PubMed:10995579).

Gene Wiki entry for ARL6IP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARL6IP1 Gene

Genomics for ARL6IP1 Gene

Regulatory Elements for ARL6IP1 Gene

Enhancers for ARL6IP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ARL6IP1 on UCSC Golden Path with GeneCards custom track

Promoters for ARL6IP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARL6IP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARL6IP1 Gene

Chromosome:
16
Start:
18,791,667 bp from pter
End:
18,801,678 bp from pter
Size:
10,012 bases
Orientation:
Minus strand

Genomic View for ARL6IP1 Gene

Genes around ARL6IP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARL6IP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARL6IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARL6IP1 Gene

Proteins for ARL6IP1 Gene

  • Protein details for ARL6IP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15041-AR6P1_HUMAN
    Recommended name:
    ADP-ribosylation factor-like protein 6-interacting protein 1
    Protein Accession:
    Q15041
    Secondary Accessions:
    • B7Z6S5
    • B7Z791
    • F5GXP4

    Protein attributes for ARL6IP1 Gene

    Size:
    203 amino acids
    Molecular mass:
    23363 Da
    Quaternary structure:
    • Homooligomer (PubMed:24262037). Heterodimer with ARL6IP5. Interacts with ARL6 (By similarity). Interacts with TMEM33 (PubMed:25612671). Interacts with ATL1 (PubMed:24262037).
    SequenceCaution:
    • Sequence=BAA06683.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARL6IP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARL6IP1 Gene

Post-translational modifications for ARL6IP1 Gene

  • Ubiquitination at Lys 96, Lys 114, and Lys 124
  • Modification sites at PhosphoSitePlus

Other Protein References for ARL6IP1 Gene

Antibody Products

  • Abcam antibodies for ARMER

No data available for DME Specific Peptides for ARL6IP1 Gene

Domains & Families for ARL6IP1 Gene

Protein Domains for ARL6IP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARL6IP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15041

UniProtKB/Swiss-Prot:

AR6P1_HUMAN :
  • The transmembrane domains are required for its ability to shape the endoplasmic reticulum membrane into tubules.
  • Belongs to the ARL6ip family.
Domain:
  • The transmembrane domains are required for its ability to shape the endoplasmic reticulum membrane into tubules.
Family:
  • Belongs to the ARL6ip family.
genes like me logo Genes that share domains with ARL6IP1: view

No data available for Gene Families for ARL6IP1 Gene

Function for ARL6IP1 Gene

Molecular function for ARL6IP1 Gene

UniProtKB/Swiss-Prot Function:
Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules (PubMed:24262037). Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-dependent substrates and downstream markers of apoptosis but not CASP9 itself (PubMed:12754298). May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation (PubMed:10995579).
UniProtKB/Swiss-Prot Induction:
Down-regulated by apoptotic stimuli.

Gene Ontology (GO) - Molecular Function for ARL6IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with ARL6IP1: view

Phenotypes for ARL6IP1 Gene

genes like me logo Genes that share phenotypes with ARL6IP1: view

Human Phenotype Ontology for ARL6IP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ARL6IP1 Gene

miRTarBase miRNAs that target ARL6IP1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ARL6IP1 Gene

Localization for ARL6IP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARL6IP1 Gene

Endomembrane system; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum. Note=Predominantly localized to intracytoplasmic membranes. Preferentially localizes at the ER tubules and the edge of the ER sheets, both of which are characterized by a high membrane curvature. {ECO:0000269 PubMed:24262037}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARL6IP1 Gene COMPARTMENTS Subcellular localization image for ARL6IP1 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
plasma membrane 3
peroxisome 2
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ARL6IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005784 Sec61 translocon complex IBA --
GO:0005789 endoplasmic reticulum membrane IDA 24262037
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with ARL6IP1: view

Pathways & Interactions for ARL6IP1 Gene

SuperPathways for ARL6IP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARL6IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002038 positive regulation of L-glutamate transport ISS --
GO:0006613 cotranslational protein targeting to membrane IBA --
GO:0006915 apoptotic process IEA --
GO:0043066 negative regulation of apoptotic process IDA 12754298
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA 12754298
genes like me logo Genes that share ontologies with ARL6IP1: view

No data available for Pathways by source and SIGNOR curated interactions for ARL6IP1 Gene

Drugs & Compounds for ARL6IP1 Gene

No Compound Related Data Available

Transcripts for ARL6IP1 Gene

Unigene Clusters for ARL6IP1 Gene

ADP-ribosylation factor-like 6 interacting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARL6IP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b
SP1: - - -
SP2: - -
SP3: - - - - -
SP4: -
SP5:
SP6: - - -

Relevant External Links for ARL6IP1 Gene

GeneLoc Exon Structure for
ARL6IP1
ECgene alternative splicing isoforms for
ARL6IP1

Expression for ARL6IP1 Gene

mRNA expression in normal human tissues for ARL6IP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARL6IP1 Gene

This gene is overexpressed in Bone (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ARL6IP1 Gene



Protein tissue co-expression partners for ARL6IP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARL6IP1 Gene:

ARL6IP1

SOURCE GeneReport for Unigene cluster for ARL6IP1 Gene:

Hs.634882

mRNA Expression by UniProt/SwissProt for ARL6IP1 Gene:

Q15041-AR6P1_HUMAN
Tissue specificity: Expressed in all hematopoietic cell lineages, but the highest level of expression is found in early myeloid progenitor cells. Expressed in brain, bone marrow, thymus and lung. Expressed at low level in liver, kidney and spleen. Not detected in heart.
genes like me logo Genes that share expression patterns with ARL6IP1: view

Primer Products

No data available for mRNA differential expression in normal tissues for ARL6IP1 Gene

Orthologs for ARL6IP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARL6IP1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ARL6IP1 34
  • 94.91 (n)
  • 98.52 (a)
ARL6IP1 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arl6ip1 34
  • 91.3 (n)
  • 96.55 (a)
Arl6ip1 16
Arl6ip1 35
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARL6IP1 34
  • 99.84 (n)
  • 100 (a)
ARL6IP1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arl6ip1 34
  • 91.79 (n)
  • 97.04 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 93 (a)
OneToMany
chicken
(Gallus gallus)
Aves ARL6IP1 34
  • 78.82 (n)
  • 86.21 (a)
ARL6IP1 35
  • 86 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 85 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia arl6ip1 34
  • 75.53 (n)
  • 84.24 (a)
Str.15137 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23161 34
zebrafish
(Danio rerio)
Actinopterygii arl6ip1 34
  • 69.79 (n)
  • 78.33 (a)
zgc56593 34
arl6ip1 35
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10326 34
  • 44.57 (n)
  • 29.28 (a)
CG10326 35
  • 28 (a)
OneToMany
Species where no ortholog for ARL6IP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ARL6IP1 Gene

ENSEMBL:
Gene Tree for ARL6IP1 (if available)
TreeFam:
Gene Tree for ARL6IP1 (if available)

Paralogs for ARL6IP1 Gene

Paralogs for ARL6IP1 Gene

Pseudogenes.org Pseudogenes for ARL6IP1 Gene

genes like me logo Genes that share paralogs with ARL6IP1: view

Variants for ARL6IP1 Gene

Sequence variations from dbSNP and Humsavar for ARL6IP1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs4566148 -- 18,794,462(-) ATGAG(A/C/G/T)CCATA intron-variant
rs9927655 -- 18,795,612(+) ATAAA(A/C)AAATC intron-variant
rs17663173 -- 18,798,689(+) TCTAA(A/T)AGCTC intron-variant
rs9936151 -- 18,797,227(+) AAAAA(A/T)AAAAA intron-variant
rs34143424 -- 18,793,432(+) ATTAC(-/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARL6IP1 Gene

Variant ID Type Subtype PubMed ID
esv2758634 CNV gain+loss 17122850
esv34419 CNV gain 17911159
esv3570409 CNV gain 25503493
nsv1044846 CNV gain 25217958
nsv1752 CNV deletion 18451855
nsv428320 CNV loss 18775914
nsv469598 CNV gain 16826518
nsv571579 CNV gain 21841781
nsv833161 CNV loss 17160897

Variation tolerance for ARL6IP1 Gene

Residual Variation Intolerance Score: 41.1% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARL6IP1 Gene

Human Gene Mutation Database (HGMD)
ARL6IP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARL6IP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARL6IP1 Gene

Disorders for ARL6IP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ARL6IP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 61, autosomal recessive
  • spg61
spastic paraplegia 61
  • spastic paraplegia 61, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AR6P1_HUMAN
  • Spastic paraplegia 61, autosomal recessive (SPG61) [MIM:615685]: A complicated form of spastic paraplegia with polysensory and motor neuropathy. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ARL6IP1

Human Genome Epidemiology (HuGE) Navigator
ARL6IP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARL6IP1
genes like me logo Genes that share disorders with ARL6IP1: view

No data available for Genatlas for ARL6IP1 Gene

Publications for ARL6IP1 Gene

  1. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3 4 65
  2. Arl6IP1 has the ability to shape the mammalian ER membrane in a reticulon-like fashion. (PMID: 24262037) Yamamoto Y. … Sakisaka T. (Biochem. J. 2014) 3 4 65
  3. Identification and characterization of TMEM33 as a reticulon-binding protein. (PMID: 25612671) Urade T. … Sakisaka T. (Kobe J Med Sci 2014) 3 4 65
  4. Determination of topological structure of ARL6ip1 in cells: identification of the essential binding region of ARL6ip1 for conophylline. (PMID: 24076029) Kuroda M. … Simizu S. (FEBS Lett. 2013) 3 4 65
  5. ARL6IP1 mediates cisplatin-induced apoptosis in CaSki cervical cancer cells. (PMID: 20372863) Guo F. … Li G. (Oncol. Rep. 2010) 3 22 65

Products for ARL6IP1 Gene

Sources for ARL6IP1 Gene

Content