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Aliases for ARL6IP1 Gene

Aliases for ARL6IP1 Gene

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

External Ids for ARL6IP1 Gene

Previous Symbols for ARL6IP1 Gene

  • ARL6IP

Summaries for ARL6IP1 Gene

GeneCards Summary for ARL6IP1 Gene

ARL6IP1 (ADP-Ribosylation Factor-Like 6 Interacting Protein 1) is a Protein Coding gene. Diseases associated with ARL6IP1 include spastic paraplegia 61, autosomal recessive. Among its related pathways are PAK Pathway and Phospholipase-C Pathway. An important paralog of this gene is ENSG00000260342.

UniProtKB/Swiss-Prot for ARL6IP1 Gene

  • May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation

Gene Wiki entry for ARL6IP1 Gene

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

Genomics for ARL6IP1 Gene

Genomic Location for ARL6IP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARL6IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARL6IP1 Gene

Regulatory Elements 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:
    • Interacts with ARL6.
    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

Proteomics data for ARL6IP1 Gene at MOPED

Post-translational modifications for ARL6IP1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys96, Lys114, and Lys124

Other Protein References for ARL6IP1 Gene

No data available for DME Specific Peptides for ARL6IP1 Gene

Domains for ARL6IP1 Gene

Protein Domains for ARL6IP1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

AR6P1_HUMAN
Family:
  • Belongs to the ARL6ip family.:
    • Q15041
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: May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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. Note=Predominantly localized to intracytoplasmic membranes.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for ARL6IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005784 Sec61 translocon complex IEA --
GO:0005829 cytosol IEA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ARL6IP1: view

Pathways for ARL6IP1 Gene

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

Pathways by source for ARL6IP1 Gene

Gene Ontology (GO) - Biological Process for ARL6IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006613 cotranslational protein targeting to membrane IEA --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with ARL6IP1: view

Transcripts for ARL6IP1 Gene

Unigene Clusters for ARL6IP1 Gene

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

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

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for ARL6IP1 Gene

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 expressions with ARL6IP1: view

Orthologs for ARL6IP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARL6IP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARL6IP1 36
  • 99.84 (n)
  • 100 (a)
ARL6IP1 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARL6IP1 36
  • 94.91 (n)
  • 98.52 (a)
ARL6IP1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arl6ip1 36
  • 91.3 (n)
  • 96.55 (a)
Arl6ip1 16
Arl6ip1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 93 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Arl6ip1 36
  • 91.79 (n)
  • 97.04 (a)
chicken
(Gallus gallus)
Aves ARL6IP1 36
  • 78.82 (n)
  • 86.21 (a)
ARL6IP1 37
  • 86 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 85 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.23161 36
tropical clawed frog
(Silurana tropicalis)
Amphibia arl6ip1 36
  • 75.53 (n)
  • 84.24 (a)
Str.15137 36
zebrafish
(Danio rerio)
Actinopterygii arl6ip1 36
  • 69.79 (n)
  • 78.33 (a)
arl6ip1 37
  • 78 (a)
OneToMany
zgc56593 36
fruit fly
(Drosophila melanogaster)
Insecta CG10326 36
  • 44.57 (n)
  • 29.28 (a)
CG10326 37
  • 28 (a)
OneToMany
Species with no ortholog for ARL6IP1:
  • 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 MAF
rs1532305 -- 18,801,808(-) TGCAG(A/C)GGCGG upstream-variant-2KB
rs2035975 -- 18,798,445(-) TTTTG(A/T)TATTA intron-variant
rs2035976 -- 18,798,422(-) TGGGA(A/T)ACATG intron-variant
rs2606561 -- 18,802,752(-) gccgg(A/G)cgtag upstream-variant-2KB
rs2606562 -- 18,796,123(-) CTAGG(A/G)ATAAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv587 CNV CNV 17122850
dgv822e1 CNV Complex 17122850
dgv823e1 CNV Complex 17122850
nsv428320 CNV Loss 18775914
esv34419 CNV Gain 17911159
dgv825e1 CNV Complex 17122850
nsv469598 CNV Gain 16826518
nsv833161 CNV Loss 17160897
nsv1752 CNV Loss 18451855

Relevant External Links for ARL6IP1 Gene

HapMap Linkage Disequilibrium report
ARL6IP1
Human Gene Mutation Database (HGMD)
ARL6IP1

Disorders for ARL6IP1 Gene

(1) OMIM Diseases for ARL6IP1 Gene (607669)

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

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
  2. 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
  3. ARL6IP1 mediates cisplatin-induced apoptosis in CaSki cervical cancer cells. (PMID: 20372863) Guo F. … Li G. (Oncol. Rep. 2010) 3 23
  4. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7584044) Nomura N. … Tabata S. (DNA Res. 1994) 3 4
  5. Characterization, chromosomal localization, and expression during hematopoietic differentiation of the gene encoding Arl6ip, ADP- ribosylation-like factor-6 interacting protein (ARL6). (PMID: 10995579) Pettersson M. … Jonsson J.I. (Genomics 2000) 3 4

Products for ARL6IP1 Gene

Sources for ARL6IP1 Gene

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