Gene id |
22873 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
DZIP1 Gene UCSC Ensembl |
Aliases |
DZIP, DZIPt1 |
Gene name |
DAZ interacting zinc finger protein 1 |
Alternate names |
zinc finger protein DZIP1, DAZ interacting protein 1, DAZ interacting protein testis1, DAZ-interacting protein 1/2, zinc finger DAZ interacting protein 1, zinc-finger protein DZIPt1, |
Gene location |
13q32.1 (95644705: 95578201) Exons: 24 NC_000013.11
|
OMIM |
608671 |
Protein Summary
|
Protein general information
| Q86YF9
Name: Zinc finger protein DZIP1 (DAZ interacting protein 1/2)
Length: 867 Mass: 98664
Tissue specificity: Predominantly expressed in testis. Also expressed in fetal brain, adult oocytes and ovary. Expressed in undifferentiated ES cells. In testis, it is probably specifically expressed in germ cells. Expressed in mature germ cells and secon
|
Sequence |
MQAEAADWFSSMPFQKHVYYPLASGPEGPDVAVAAAAAGAASMACAPPSAASGPLPFFQFRPRLESVDWRRLSAI DVDKVAGAVDVLTLQENIMNITFCKLEDEKCPHCQSGVDPVLLKLIRLAQFTIEYLLHSQEFLTSQLHTLEERLR LSHCDGEQSKKLLTKQAGEIKTLKEECKRRKKMISTQQLMIEAKANYYQCHFCDKAFMNQAFLQSHIQRRHTEEN SHFEYQKNAQIEKLRSEIVVLKEELQLTRSELEAAHHASAVRFSKEYEMQKTKEEDFLKLFDRWKEEEKEKLVDE MEKVKEMFMKEFKELTSKNSALEYQLSEIQKSNMQIKSNIGTLKDAHEFKEDRSPYPQDFHNVMQLLDSQESKWT ARVQAIHQEHKKEKGRLLSHIEKLRTSMIDDLNASNVFYKKRIEELGQRLQEQNELIITQRQQIKDFTCNPLNSI SEPKGNPLAWQAFESQPAAPAVPMNAPALHTLETKSSLPMVHEQAFSSHILEPIEELSEEEKGRENEQKLNNNKM HLRKALKSNSSLTKGLRTMVEQNLMEKLETLGINADIRGISSDQLHRVLKSVESERHKQEREIPNFHQIREFLEH QVSCKIEEKALLSSDQCSVSQMDTLSTGEVPKMIQLPSKNRQLIRQKAVSTDRTSVPKIKKNVMEDPFPRKSSTI TTPPFSSEEEQEDDDLIRAYASPGPLPVPPPQNKGSFGKNTVKSDADGTEGSEIEDTDDSPKPAGVAVKTPTEKV EKMFPHRKNVNKPVGGTNVPEMFIKKEELQELKCADVEDEDWDISSLEEEISLGKKSGKEQKEPPPAKNEPHFAH VLNAWGAFNPKGPKGEGLQENESSTLKSSLVTVTDWSDTSDV
|
Structural information |
|
Other Databases |
GeneCards: DZIP1  Malacards: DZIP1 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0036064 |
ciliary basal body
|
IBA |
cellular component |
GO:0060271 |
cilium assembly
|
IBA |
biological process |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0030154 |
cell differentiation
|
IEA |
biological process |
GO:0007283 |
spermatogenesis
|
IEA |
biological process |
GO:0042995 |
cell projection
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0007275 |
multicellular organism de velopment
|
IEA |
biological process |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005929 |
cilium
|
IEA |
cellular component |
GO:0005856 |
cytoskeleton
|
IEA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005814 |
centriole
|
IEA |
cellular component |
GO:0007224 |
smoothened signaling path way
|
IEA |
biological process |
GO:0033365 |
protein localization to o rganelle
|
IEA |
biological process |
GO:0043393 |
regulation of protein bin ding
|
IEA |
biological process |
GO:0044782 |
cilium organization
|
IEA |
biological process |
GO:0045184 |
establishment of protein localization
|
IEA |
biological process |
GO:0061512 |
protein localization to c ilium
|
IEA |
biological process |
GO:0036064 |
ciliary basal body
|
IEA |
cellular component |
GO:0045724 |
positive regulation of ci lium assembly
|
IEA |
biological process |
GO:0051220 |
cytoplasmic sequestering of protein
|
IEA |
biological process |
GO:0060271 |
cilium assembly
|
IEA |
biological process |
GO:0097539 |
ciliary transition fiber
|
IEA |
cellular component |
GO:0036064 |
ciliary basal body
|
IDA |
cellular component |
GO:0005814 |
centriole
|
IDA |
colocalizes with |
GO:0060271 |
cilium assembly
|
IMP |
biological process |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005814 |
centriole
|
IEA |
cellular component |
GO:0005654 |
nucleoplasm
|
IDA |
cellular component |
GO:0034451 |
centriolar satellite
|
IDA |
cellular component |
GO:0005829 |
cytosol
|
IDA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005737 |
cytoplasm
|
IDA |
cellular component |
GO:0005634 |
nucleus
|
IDA |
cellular component |
GO:0007281 |
germ cell development
|
IEP |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Multiple Morphological Abnormalities of the sperm Flagella | MIK: 32051257 |
Asthenoteratozoospermia with severe MMAF | MIK: 32051257 |
Spermatogenic defects | MIK: 31037746 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
32051257 |
Asthenoter atospermia with seve re MMAF
|
c.188G>A (p.Arg63Gln), c.690T>G (p.Tyr230*) |
|
877 (875 contro ls, 2 cases)
|
Male infertility |
|
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 |
|