Gene id |
29799 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
YPEL1 Gene UCSC Ensembl |
Aliases |
FKSG3 |
Gene name |
yippee like 1 |
Alternate names |
protein yippee-like 1, DiGeorge syndrome-related protein, |
Gene location |
22q11.21-q11.22 (21735793: 21697535) Exons: 5 NC_000022.11
|
Gene summary(Entrez) |
This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 2015]
|
OMIM |
608082 |
Protein Summary
|
Protein general information
| O60688
Name: Protein yippee like 1
Length: 119 Mass: 13575
|
Sequence |
MVKMTKSKTFQAYLPNCHRTYSCIHCRAHLANHDELISKSFQGSQGRAYLFNSVVNVGCGPAEERVLLTGLHAVA DIYCENCKTTLGWKYEHAFESSQKYKEGKFIIELAHMIKDNGWE
|
Structural information |
|
Other Databases |
GeneCards: YPEL1  Malacards: YPEL1 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Spermatogenic defects | MIK: 31037746 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
31037746 |
Spermatoge nic defect s
|
|
|
16 (1 control, 15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|