Homo sapiens Protein: ARL6IP1
Summary
InnateDB Protein IDBP-17307.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ARL6IP1
Protein Name ADP-ribosylation factor-like 6 interacting protein 1
Synonyms AIP1; ARL6IP; ARMER; SPG61;
Species Homo sapiens
Ensembl Protein ENSP00000306788
InnateDB Gene IDBG-17305 (ARL6IP1)
Protein Structure
UniProt Annotation
Function May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation.
Subcellular Localization Endomembrane system {ECO:0000269PubMed:10995579}; Multi-pass membrane protein {ECO:0000269PubMed:10995579}. Note=Predominantly localized to intracytoplasmic membranes.
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.
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}.
Comments
Interactions
Number of Interactions 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]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006613 cotranslational protein targeting to membrane
Cellular Component
GO:0005737 cytoplasm
GO:0005784 Sec61 translocon complex
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR003388 Reticulon
PFAM PF02453
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q15041
PhosphoSite PhosphoSite-Q15041
TrEMBL F5GXP4
UniProt Splice Variant
Entrez Gene 23204
UniGene Hs.712690
RefSeq NP_055976
HUGO HGNC:697
OMIM 607669
CCDS CCDS10572
HPRD 09641
IMGT
EMBL AC138811 BC010281 CH471186 D31885
GenPept AAH10281 BAA06683 EAW50257 EAW50258