InnateDB Protein
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IDBP-292577.6
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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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KIAA0415
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Protein Name
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KIAA0415
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Synonyms
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KIAA0415; SPG48; zeta;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000384980
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InnateDB Gene
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IDBG-404720 (KIAA0415)
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Protein Structure
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Function |
As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair. {ECO:0000269PubMed:20613862, ECO:0000269PubMed:22022230}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:20613862}. Nucleus {ECO:0000269PubMed:20613862}. Note=By SDS-PAGE, 2 isoforms have been observed, the shorter seems to be predominantly nuclear and the longer is mostly cytoplasmic. {ECO:0000269PubMed:20613862}.
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Disease Associations |
Spastic paraplegia 48, autosomal recessive (SPG48) [MIM:613647]: A form of spastic paraplegia, 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:20613862}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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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 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[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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Molecular Function |
Accession |
GO Term |
GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0005515
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protein binding
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GO:0043565
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sequence-specific DNA binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001766
Transcription factor, fork head
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PFAM |
PF00250
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PRINTS |
PR00053
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PIRSF |
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SMART |
SM00339
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TIGRFAMs |
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Modification |
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SwissProt |
O43299
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PhosphoSite |
PhosphoSite-O43299
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TrEMBL |
A4D1Z4
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UniProt Splice Variant |
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Entrez Gene |
9907
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UniGene |
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RefSeq |
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HUGO |
HGNC:22197
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OMIM |
613653
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CCDS |
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HPRD |
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IMGT |
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EMBL |
AB007875
AC092610
BC008841
BC037399
CH236953
CH471144
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GenPept |
AAH08841
AAH37399
BAA24845
EAL23965
EAW87297
EAW87298
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