InnateDB Protein
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IDBP-17307.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ARL6IP1
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Protein Name
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ADP-ribosylation factor-like 6 interacting protein 1
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Synonyms
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AIP1; ARL6IP; ARMER; SPG61;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000306788
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InnateDB Gene
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IDBG-17305 (ARL6IP1)
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Protein Structure
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Function |
May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation.
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Subcellular Localization |
Endomembrane system {ECO:0000269PubMed:10995579}; Multi-pass membrane protein {ECO:0000269PubMed:10995579}. Note=Predominantly localized to intracytoplasmic membranes.
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Disease Associations |
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:0000269PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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. {ECO:0000269PubMed:10995579}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
15
[view]
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Protein-Protein |
15
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
GO:0006613
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cotranslational protein targeting to membrane
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Cellular Component |
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PDB ID |
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InterPro |
IPR003388
Reticulon
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PFAM |
PF02453
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q15041
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PhosphoSite |
PhosphoSite-Q15041
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TrEMBL |
F5GXP4
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UniProt Splice Variant |
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Entrez Gene |
23204
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UniGene |
Hs.712690
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RefSeq |
NP_055976
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HUGO |
HGNC:697
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OMIM |
607669
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CCDS |
CCDS10572
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HPRD |
09641
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IMGT |
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EMBL |
AC138811
BC010281
CH471186
D31885
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GenPept |
AAH10281
BAA06683
EAW50257
EAW50258
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