InnateDB Protein
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IDBP-474346.4
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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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C5orf42
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Protein Name
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chromosome 5 open reading frame 42
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000421690
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InnateDB Gene
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IDBG-16920 (C5orf42)
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Protein Structure
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Function |
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Subcellular Localization |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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Disease Associations |
Joubert syndrome 17 (JBTS17) [MIM:614615]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269PubMed:22425360, ECO:0000269PubMed:23012439}. 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 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[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 |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR011044
Quinoprotein amine dehydrogenase, beta chain-like
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PFAM |
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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 |
Q9H799
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PhosphoSite |
PhosphoSite-Q9H799
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
65250
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UniGene |
Hs.586199
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RefSeq |
XP_005248406
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HUGO |
HGNC:25801
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OMIM |
614571
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CCDS |
CCDS34146
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HPRD |
07822
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IMGT |
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EMBL |
AC008925
AC025449
AK023293
AK024779
AK026735
AK096581
BC028410
BC074774
BC144069
BC150594
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GenPept |
AAH28410
AAH74774
AAI44070
AAI50595
BAB14513
BAB14999
BAB15539
BAC04822
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