Version 5.4
| Homo sapiens Protein: KHDC3L | |||||
|---|---|---|---|---|---|
| Summary | |||||
| InnateDB Protein | IDBP-92329.6 | ||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||
| Gene Symbol | KHDC3L | ||||
| Protein Name | chromosome 6 open reading frame 221 | ||||
| Synonyms | |||||
| Species | Homo sapiens | ||||
| Ensembl Protein | ENSP00000359392 | ||||
| InnateDB Gene | IDBG-92327 (KHDC3L) | ||||
| Protein Structure |
|
||||
| UniProt Annotation | |||||
| Function | |||||
| Subcellular Localization | |||||
| Disease Associations | Hydatidiform mole, recurrent, 2 (HYDM2) [MIM:614293]: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. {ECO:0000269PubMed:21885028}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||
| Tissue Specificity | Expression appears to be maximal in germinal vesicle oocytes, it tails off through metaphase II oocytes and is undetectable following the completion of the oocyte to embryo transition. {ECO:0000269PubMed:21885028}. | ||||
| Comments | |||||
| Interactions | |||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
||||
| Gene Ontology | |||||
Molecular Function |
|
||||
| Biological Process |
|
||||
| Cellular Component |
|
||||
| Protein Structure and Domains | |||||
| PDB ID | |||||
| InterPro |
IPR004088
K Homology domain, type 1 |
||||
| PFAM |
PF00013
PF13014 |
||||
| PRINTS | |||||
| PIRSF | |||||
| SMART | |||||
| TIGRFAMs | |||||
| Post-translational Modifications | |||||
| Modification | |||||
| Cross-References | |||||
| SwissProt | Q587J8 | ||||
| PhosphoSite | PhosphoSite-Q587J8 | ||||
| TrEMBL | |||||
| UniProt Splice Variant | |||||
| Entrez Gene | 154288 | ||||
| UniGene | Hs.128326 | ||||
| RefSeq | NP_001017361 | ||||
| HUGO | HGNC:33699 | ||||
| OMIM | 611687 | ||||
| CCDS | CCDS34484 | ||||
| HPRD | 18560 | ||||
| IMGT | |||||
| EMBL | AB211062 BC132844 BC137160 | ||||
| GenPept | AAI32845 AAI37161 BAD95489 | ||||