Gene id |
6249 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
CLIP1 Gene UCSC Ensembl |
Aliases |
CLIP, CLIP-170, CLIP170, CYLN1, RSN |
Gene name |
CAP-Gly domain containing linker protein 1 |
Alternate names |
CAP-Gly domain-containing linker protein 1, cytoplasmic linker protein 1, cytoplasmic linker protein 170 alpha-2, cytoplasmic linker protein CLIP-170, restin (Reed-Steinberg cell-expressed intermediate filament-associated protein), |
Gene location |
12q24.31 (122422955: 122271430) Exons: 30 NC_000012.12
|
Gene summary(Entrez) |
The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq
|
OMIM |
179838 |
Protein Summary
|
Protein general information
| P30622
Name: CAP Gly domain containing linker protein 1 (Cytoplasmic linker protein 1) (Cytoplasmic linker protein 170 alpha 2) (CLIP 170) (Reed Sternberg intermediate filament associated protein) (Restin)
Length: 1438 Mass: 162246
Tissue specificity: Detected in dendritic cells (at protein level). Highly expressed in the Reed-Sternberg cells of Hodgkin disease. {ECO
|
Sequence |
MSMLKPSGLKAPTKILKPGSTALKTPTAVVAPVEKTISSEKASSTPSSETQEEFVDDFRVGERVWVNGNKPGFIQ FLGETQFAPGQWAGIVLDEPIGKNDGSVAGVRYFQCEPLKGIFTRPSKLTRKVQAEDEANGLQTTPASRATSPLC TSTASMVSSSPSTPSNIPQKPSQPAAKEPSATPPISNLTKTASESISNLSEAGSIKKGERELKIGDRVLVGGTKA GVVRFLGETDFAKGEWCGVELDEPLGKNDGAVAGTRYFQCQPKYGLFAPVHKVTKIGFPSTTPAKAKANAVRRVM ATTSASLKRSPSASSLSSMSSVASSVSSRPSRTGLLTETSSRYARKISGTTALQEALKEKQQHIEQLLAERDLER AEVAKATSHVGEIEQELALARDGHDQHVLELEAKMDQLRTMVEAADREKVELLNQLEEEKRKVEDLQFRVEEESI TKGDLEQKSQISEDPENTQTKLEHARIKELEQSLLFEKTKADKLQRELEDTRVATVSEKSRIMELEKDLALRVQE VAELRRRLESNKPAGDVDMSLSLLQEISSLQEKLEVTRTDHQREITSLKEHFGAREETHQKEIKALYTATEKLSK ENESLKSKLEHANKENSDVIALWKSKLETAIASHQQAMEELKVSFSKGLGTETAEFAELKTQIEKMRLDYQHEIE NLQNQQDSERAAHAKEMEALRAKLMKVIKEKENSLEAIRSKLDKAEDQHLVEMEDTLNKLQEAEIKVKELEVLQA KCNEQTKVIDNFTSQLKATEEKLLDLDALRKASSEGKSEMKKLRQQLEAAEKQIKHLEIEKNAESSKASSITREL QGRELKLTNLQENLSEVSQVKETLEKELQILKEKFAEASEEAVSVQRSMQETVNKLHQKEEQFNMLSSDLEKLRE NLADMEAKFREKDEREEQLIKAKEKLENDIAEIMKMSGDNSSQLTKMNDELRLKERDVEELQLKLTKANENASFL QKSIEDMTVKAEQSQQEAAKKHEEEKKELERKLSDLEKKMETSHNQCQELKARYERATSETKTKHEEILQNLQKT LLDTEDKLKGAREENSGLLQELEELRKQADKAKAAQTAEDAMQIMEQMTKEKTETLASLEDTKQTNAKLQNELDT LKENNLKNVEELNKSKELLTVENQKMEEFRKEIETLKQAAAQKSQQLSALQEENVKLAEELGRSRDEVTSHQKLE EERSVLNNQLLEMKKRESKFIKDADEEKASLQKSISITSALLTEKDAELEKLRNEVTVLRGENASAKSLHSVVQT LESDKVKLELKVKNLELQLKENKRQLSSSSGNTDTQADEDERAQESQIDFLNSVIVDLQRKNQDLKMKVEMMSEA ALNGNGDDLNNYDSDDQEKQSKKKPRLFCDICDCFDLHDTEDCPTQAQMSEDPPHSTHHGSRGEERPYCEICEMF GHWATNCNDDETF
|
Structural information |
|
Other Databases |
GeneCards: CLIP1  Malacards: CLIP1 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005938 |
cell cortex
|
IBA |
cellular component |
GO:0031116 |
positive regulation of mi crotubule polymerization
|
IBA |
biological process |
GO:0031122 |
cytoplasmic microtubule o rganization
|
IBA |
biological process |
GO:0005634 |
nucleus
|
IBA |
cellular component |
GO:0005737 |
cytoplasm
|
IBA |
cellular component |
GO:0051010 |
microtubule plus-end bind ing
|
IBA |
molecular function |
GO:0044354 |
macropinosome
|
IDA |
colocalizes with |
GO:0015631 |
tubulin binding
|
IDA |
molecular function |
GO:0008270 |
zinc ion binding
|
IDA |
molecular function |
GO:0008017 |
microtubule binding
|
IDA |
molecular function |
GO:0005813 |
centrosome
|
IDA |
cellular component |
GO:0051010 |
microtubule plus-end bind ing
|
IDA |
molecular function |
GO:0035371 |
microtubule plus-end
|
IDA |
colocalizes with |
GO:0031116 |
positive regulation of mi crotubule polymerization
|
IMP |
biological process |
GO:0015630 |
microtubule cytoskeleton
|
IMP |
cellular component |
GO:0005874 |
microtubule
|
ISS |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0001578 |
microtubule bundle format ion
|
IMP |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0042995 |
cell projection
|
IEA |
cellular component |
GO:0031410 |
cytoplasmic vesicle
|
IEA |
cellular component |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0005856 |
cytoskeleton
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005874 |
microtubule
|
IEA |
cellular component |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0005882 |
intermediate filament
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
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:0044861 |
protein transport into pl asma membrane raft
|
IEA |
biological process |
GO:0008017 |
microtubule binding
|
IEA |
molecular function |
GO:0051010 |
microtubule plus-end bind ing
|
IEA |
molecular function |
GO:0035371 |
microtubule plus-end
|
IEA |
cellular component |
GO:0005881 |
cytoplasmic microtubule
|
IEA |
cellular component |
GO:0005874 |
microtubule
|
IEA |
cellular component |
GO:0005635 |
nuclear envelope
|
IEA |
cellular component |
GO:0001726 |
ruffle
|
IEA |
cellular component |
GO:0030659 |
cytoplasmic vesicle membr ane
|
IEA |
cellular component |
GO:0005856 |
cytoskeleton
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005874 |
microtubule
|
IMP |
cellular component |
GO:0000776 |
kinetochore
|
TAS |
cellular component |
GO:0031116 |
positive regulation of mi crotubule polymerization
|
IMP |
biological process |
GO:0000278 |
mitotic cell cycle
|
TAS |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
|
|
Pathway id | Pathway name |
hsa04150 | mTOR signaling pathway | |
|
Associated diseases |
References |
Role in shaping the sperm nucleus | MIK: 11476580 |
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
|
|
|
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
|
|
|
28 men with az oospermia
|
Male infertility |
Microarray
|
Show abstract |
31037746 |
Spermatoge nic defect s
|
|
|
16 (1 control, 15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|