Gene id |
88455 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
ANKRD13A Gene UCSC Ensembl |
Aliases |
ANKRD13, NY-REN-25 |
Gene name |
ankyrin repeat domain 13A |
Alternate names |
ankyrin repeat domain-containing protein 13A, NY-REN-25 antigen, |
Gene location |
12q24.11 (19431901: 19436077) Exons: 4 NC_000022.11
|
OMIM |
615123 |
Protein Summary
|
Protein general information
| Q8IZ07
Name: Ankyrin repeat domain containing protein 13A (Protein KE03)
Length: 590 Mass: 67619
|
Sequence |
MSSACDAGDHYPLHLLVWKNDYRQLEKELQGQNVEAVDPRGRTLLHLAVSLGHLESARVLLRHKADVTKENRQGW TVLHEAVSTGDPEMVYTVLQHRDYHNTSMALEGVPELLQKILEAPDFYVQMKWEFTSWVPLVSRICPNDVCRIWK SGAKLRVDITLLGFENMSWIRGRRSFIFKGEDNWAELMEVNHDDKVVTTERFDLSQEMERLTLDLMKPKSREVER RLTSPVINTSLDTKNIAFERTKSGFWGWRTDKAEVVNGYEAKVYTVNNVNVITKIRTEHLTEEEKKRYKADRNPL ESLLGTVEHQFGAQGDLTTECATANNPTAITPDEYFNEEFDLKDRDIGRPKELTIRTQKFKAMLWMCEEFPLSLV EQVIPIIDLMARTSAHFARLRDFIKLEFPPGFPVKIEIPLFHVLNARITFGNVNGCSTAEESVSQNVEGTQADSA SHITNFEVDQSVFEIPESYYVQDNGRNVHLQDEDYEIMQFAIQQSLLESSRSQELSGPASNGGISQTNTYDAQYE RAIQESLLTSTEGLCPSALSETSRFDNDLQLAMELSAKELEEWELRLQEEEAELQQVLQLSLTDK
|
Structural information |
|
Other Databases |
GeneCards: ANKRD13A  Malacards: ANKRD13A |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005737 |
cytoplasm
|
IBA |
cellular component |
GO:0005768 |
endosome
|
IEA |
cellular component |
GO:0005886 |
plasma membrane
|
IEA |
cellular component |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0005886 |
plasma membrane
|
IEA |
cellular component |
GO:0005770 |
late endosome
|
IEA |
cellular component |
GO:0005886 |
plasma membrane
|
IDA |
cellular component |
GO:1905667 |
negative regulation of pr otein localization to end osome
|
IDA |
biological process |
GO:0140036 |
ubiquitin-dependent prote in binding
|
IDA |
molecular function |
GO:0005770 |
late endosome
|
IDA |
cellular component |
GO:0005737 |
cytoplasm
|
IDA |
cellular component |
GO:0005886 |
plasma membrane
|
IDA |
cellular component |
GO:0048471 |
perinuclear region of cyt oplasm
|
IDA |
cellular component |
GO:0002091 |
negative regulation of re ceptor internalization
|
IMP |
biological process |
GO:0140036 |
ubiquitin-dependent prote in binding
|
IPI |
molecular function |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
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 |
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 |
31037746 |
Spermatoge nic defect s
|
|
|
28 men with az oospermia
|
Male infertility |
Microarray
|
Show abstract |
|