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Gene id 9764
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol KIAA0513   Gene   UCSC   Ensembl
Gene name KIAA0513
Alternate names uncharacterized protein KIAA0513,
Gene location 16q24.1 (85027708: 85094229)     Exons: 15     NC_000016.10
OMIM 611675

Protein Summary

Protein general information O60268  

Name: Uncharacterized protein KIAA0513

Length: 411  Mass: 46639

Tissue specificity: Widely expressed, highest levels in cerebellum, brain cortex, hippocampus, pons, putamen and amygdala. Highly expressed in neurons, but also present in glial cells. Slightly higher expression in the dorsolateral prefrontal cortex of sc

Sequence METPEVPVGSLIDFGPEAPTSSPLEAPPPVLQDGDGSLGDGASESETTESADSENDMGESPSHPSWDQDRRSSSN
ESFSSNQSTESTQDEETLALRDFMRGYVEKIFSGGEDLDQEEKAKFGEYCSSENGKGREWFARYVSAQRCNSKCV
SEATFYRLVQSFAVVLFECHQMDDFGPAKNLMTMCFTYYHIGKPQLLPPESREKPAGSIDSYLKSANSWLAEKKD
IAERLLKNTSARTENVKGFFGGLETKLKGPLARRNEEDENKPQEKRPRAVTAYSPEDEKKGEKIYLYTHLKQQPI
WHTLRFWNAAFFDAVHCERTKRSPTTRGDAGEEEEKREKWCHMTQEERDDSLRFNENITFGQLGTFTHNMLAFGL
NKKLCNDFLKKQAVIGNLDEEQYKLLSDHIEQMATE
Structural information
Interpro:  IPR039872  
MINT:  
STRING:   ENSP00000457408
Other Databases GeneCards:  KIAA0513  Malacards:  KIAA0513

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0005737 cytoplasm
IEA cellular component
GO:0005737 cytoplasm
IEA cellular component
Associated diseases References
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes 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