ENSG00000170540


Homo sapiens

Features
Gene ID: ENSG00000170540
  
Biological name :ARL6IP1
  
Synonyms : ADP ribosylation factor like GTPase 6 interacting protein 1 / ARL6IP1 / Q15041
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p12.3
Gene start: 18791667
Gene end: 18801678
  
Corresponding Affymetrix probe sets: 211935_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000440048
Ensembl peptide - ENSP00000455341
Ensembl peptide - ENSP00000456596
Ensembl peptide - ENSP00000457372
Ensembl peptide - ENSP00000306788
NCBI entrez gene - 23204     See in Manteia.
OMIM - 607669
RefSeq - NM_001313858
RefSeq - NM_015161
RefSeq Peptide - NP_001300787
RefSeq Peptide - NP_055976
swissprot - Q15041
swissprot - A0A024QYV7
swissprot - H3BPJ2
swissprot - H3BS91
swissprot - H3BTX6
Ensembl - ENSG00000170540
  
Related genetic diseases (OMIM): 615685 - ?Spastic paraplegia 61, autosomal recessive, 615685
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q9JKW0ENSMUSG00000030654Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC138811.2ENSG0000026034283
P62244 / RPS15A / ribosomal protein S15aENSG000001344199


Protein motifs (from Interpro)
Interpro ID Name
 IPR033301  ADP-ribosylation factor-like protein 6-interacting protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002038 positive regulation of L-glutamate import across plasma membrane ISS
 biological_processGO:0006613 cotranslational protein targeting to membrane IBA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0071787 endoplasmic reticulum tubular network formation IDA
 biological_processGO:1990809 endoplasmic reticulum tubular network membrane organization IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005784 Sec61 translocon complex IBA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030176 integral component of endoplasmic reticulum membrane IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000763 Sensory neuropathy "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators]
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001258 Spastic paraplegia 
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 HP:0001271 Polyneuropathy "A generalized disorder of peripheral nerves." [HPO:curators]
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 HP:0002355 Difficulty walking 
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 HP:0002540 Inability to walk 
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 HP:0002815 Abnormality of the knees "An abnormality of the knee joint or surrounding structures." [HPO:curators]
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 HP:0003438 Absent ankle reflexes 
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 HP:0005109 Abnormality of the Achilles tendon 
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 HP:0007083 Hyperreflexia in knees 
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 HP:0007178 Motor polyneuropathy 
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 HP:0012407 Scissor gait "A form of gait abnormality characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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