InnateDB Protein
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IDBP-40652.6
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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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HYDIN
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Protein Name
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hydrocephalus inducing homolog (mouse)
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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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ENSP00000314736
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InnateDB Gene
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IDBG-40648 (HYDIN)
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Protein Structure
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Function |
Required for ciliary motility. {ECO:0000250}.
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Subcellular Localization |
Cell projection, cilium {ECO:0000305}.
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Disease Associations |
Ciliary dyskinesia, primary, 5 (CILD5) [MIM:608647]: An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus. {ECO:0000269PubMed:23022101}. 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 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[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 |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008962
PapD-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 |
Q4G0P3
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PhosphoSite |
PhosphoSite-Q4G0P3
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TrEMBL |
F5H8I6
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UniProt Splice Variant |
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Entrez Gene |
54768
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UniGene |
Hs.743703
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RefSeq |
NP_060028
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HUGO |
HGNC:19368
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OMIM |
610812
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CCDS |
CCDS10897
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HPRD |
11042
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IMGT |
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EMBL |
AC027281
AC099495
AC138625
AK022933
AK026688
AK299016
AK299348
AL122038
AL133042
AL137259
BC028351
BC043273
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GenPept |
AAH28351
AAH43273
BAB14314
BAB15527
BAG61096
BAG61346
CAB59178
CAB61370
CAB70660
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