Gene id |
167 |
Gene Summary SNPs Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
CRISP1 Gene UCSC Ensembl |
Aliases |
AEGL1, ARP, CRISP-1, HEL-S-57, HSCRISP1D, HSCRISP1G, HUMARP |
Gene name |
cysteine rich secretory protein 1 |
Alternate names |
cysteine-rich secretory protein 1, AEG-like protein, AEG-related protein, acidic epididymal glycoprotein homolog, acidic epididymal glycoprotein-like 1, cysteine-rich secretory protein-1 delta, epididymis secretory protein Li 57, |
Gene location |
6p12.3 (49877095: 49833938) Exons: 11 NC_000006.12
|
Gene summary(Entrez) |
Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specif
|
OMIM |
601193 |
SNPs |
rs11135484
Strand: Allele origin: Allele change: Mutation type: snv
NC_000005.10 g.96886185A>G
NC_000005.9 g.96221889A>G
NG_027839.2 g.54799T>C
NG_051092.1 g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2 64167
|
Protein Summary
|
Protein general information
| P54107
Name: Cysteine rich secretory protein 1 (CRISP 1) (AEG like protein) (ARP) (Acidic epididymal glycoprotein homolog)
Length: 249 Mass: 28,481
|
Sequence |
MEIKHLLFLVAAACLLPMLSMKKKSARDQFNKLVTDLPNVQEEIVNIHNALRRRVVPPASNMLKMSWSEEAAQNA RIFSKYCDMTESNPLERRLPNTFCGENMHMTSYPVSWSSVIGVWYSESTSFKHGEWTTTDDDITTDHYTQIVWAT SYLIGCAIASCRQQGSPRYLYVCHYCHEGNDPETKNEPYKTGVPCEACPSNCEDKLCTNPCIYYDEYFDCDIQVH YLGCNHSTTILFCKATCLCDTEIK
|
Structural information |
|
Other Databases |
GeneCards: CRISP1  Malacards: CRISP1 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005246 |
calcium channel regulator activity
|
IEA |
molecular function |
GO:0005615 |
extracellular space
|
TAS |
cellular component |
GO:0005634 |
nucleus
|
IDA |
cellular component |
GO:0007339 |
binding of sperm to zona pellucida
|
IEA |
biological process |
GO:0007342 |
fusion of sperm to egg pl asma membrane
|
TAS |
biological process |
GO:0060046 |
regulation of acrosome re action
|
IEA |
biological process |
GO:0005246 |
calcium channel regulator activity
|
IEA |
molecular function |
GO:0005576 |
extracellular region
|
IEA |
cellular component |
GO:0005615 |
extracellular space
|
TAS |
cellular component |
GO:0005634 |
nucleus
|
IDA |
cellular component |
GO:0007339 |
binding of sperm to zona pellucida
|
IEA |
biological process |
GO:0007342 |
fusion of sperm to egg pl asma membrane
|
TAS |
biological process |
GO:0060046 |
regulation of acrosome re action
|
IEA |
biological process |
GO:0005615 |
extracellular space
|
TAS |
cellular component |
GO:0005634 |
nucleus
|
IDA |
cellular component |
GO:0007342 |
fusion of sperm to egg pl asma membrane
|
TAS |
biological process |
|
|
Associated diseases |
References |
Non obstructive azoospermia | MIK: 23987519 |
Male factor infertility | MIK: 17928628 |
Azoospermia | MIK: 17928628 |
Associated with acrosome function | MIK: 29361143 |
Associated with inhibition of capacitation and acrosome reaction | MIK: 12700197 |
Azoospermia | MIK: 17928628 |
Impaired sperm fertilizing ability | MIK: 18571638 |
Modulates sperm motility | MIK: 26416967 |
Male infertility | MIK: 26416967 |
Obstructive azoospermia | MIK: 23987519 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
23987519 |
Nonobstruc tive azoos permia, ob structive azoospermi a
|
|
|
125 (45 normosp ermic donors, 8 0 azoospermic d onors)
|
Male infertility |
|
Show abstract |
17928628 |
Azoospermi a
|
|
|
|
Male infertility |
CRISP1 SPINLW1 FAM12B DEFB129 CFTR AQP5 KCNK4 KCNK17 SLC6A20 SLC13A3 DEFB126 and DEFB106A
|
Show abstract |
29361143 |
Associated with acro some funct ion
|
|
|
|
Male infertility |
|
Show abstract |
18571638 |
Impaired s perm ferti lizing abi lity
|
|
|
|
Male infertility |
|
Show abstract |
12700197 |
Associated with inhi bition of capacitati on and acr osome reac tion
|
|
|
|
Male infertility |
|
Show abstract |
26416967 |
Modulates sperm moti lity, Male infertili ty
|
|
|
|
Male infertility |
|
Show 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 |
|