Gene Gene information from NCBI Gene database.
Entrez ID 6249
Gene name CAP-Gly domain containing linker protein 1
Gene symbol CLIP1
Synonyms (NCBI Gene)
CLIPCLIP-170CLIP170CYLN1RSN
Chromosome 12
Chromosome location 12q24.31
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs984649575 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1122
miRTarBase ID miRNA Experiments Reference
MIRT020216 hsa-miR-130b-3p Sequencing 20371350
MIRT027105 hsa-miR-103a-3p Sequencing 20371350
MIRT031181 hsa-miR-19b-3p Sequencing 20371350
MIRT704620 hsa-miR-4668-3p HITS-CLIP 23313552
MIRT704619 hsa-miR-3689a-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle TAS 15928712
GO:0000776 Component Kinetochore TAS 15928712
GO:0001578 Process Microtubule bundle formation IMP 17889670
GO:0001726 Component Ruffle IEA
GO:0005515 Function Protein binding IPI 11940666, 16455083, 17563362, 17828275, 17828277, 19004523, 20679239, 21646404, 24997520, 26496610, 26506308, 27173435, 32296183, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179838 10461 ENSG00000130779
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30622
Protein 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)
Protein function Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth and microtubule bundling. Links cytoplasmic vesicles to microtubules and thereby plays an important role in intracellul
PDB 2CP5 , 2CP6 , 2E3H , 2E3I , 2E4H , 2HQH , 2QK0 , 3E2U , 3RDV , 8WHH , 8WHI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01302 CAP_GLY 60 124 CAP-Gly domain Domain
PF01302 CAP_GLY 214 278 CAP-Gly domain Domain
PF16641 CLIP1_ZNF 1376 1393 CLIP1 zinc knuckle Family
PF16641 CLIP1_ZNF 1416 1432 CLIP1 zinc knuckle Family
Tissue specificity TISSUE SPECIFICITY: Detected in dendritic cells (at protein level). Highly expressed in the Reed-Sternberg cells of Hodgkin disease. {ECO:0000269|PubMed:12433698, ECO:0000269|PubMed:1600942}.
Sequence
MSMLKPSGLKAPTKILKPGSTALKTPTAVVAPVEKTISSEKASSTPSSETQEEFVDDFRV
GERVWVNGNKPGFIQFLGETQFAPGQWAGIVLDEPIGKNDGSVAGVRYFQCEPLKGIFTR
PSKL
TRKVQAEDEANGLQTTPASRATSPLCTSTASMVSSSPSTPSNIPQKPSQPAAKEPS
ATPPISNLTKTASESISNLSEAGSIKKGERELKIGDRVLVGGTKAGVVRFLGETDFAKGE
WCGVELDEPLGKNDGAVAGTRYFQCQPKYGLFAPVHKV
TKIGFPSTTPAKAKANAVRRVM
ATTSASLKRSPSASSLSSMSSVASSVSSRPSRTGLLTETSSRYARKISGTTALQEALKEK
QQHIEQLLAERDLERAEVAKATSHVGEIEQELALARDGHDQHVLELEAKMDQLRTMVEAA
DREKVELLNQLEEEKRKVEDLQFRVEEESITKGDLEQKSQISEDPENTQTKLEHARIKEL
EQSLLFEKTKADKLQRELEDTRVATVSEKSRIMELEKDLALRVQEVAELRRRLESNKPAG
DVDMSLSLLQEISSLQEKLEVTRTDHQREITSLKEHFGAREETHQKEIKALYTATEKLSK
ENESLKSKLEHANKENSDVIALWKSKLETAIASHQQAMEELKVSFSKGLGTETAEFAELK
TQIEKMRLDYQHEIENLQNQQDSERAAHAKEMEALRAKLMKVIKEKENSLEAIRSKLDKA
EDQHLVEMEDTLNKLQEAEIKVKELEVLQAKCNEQTKVIDNFTSQLKATEEKLLDLDALR
KASSEGKSEMKKLRQQLEAAEKQIKHLEIEKNAESSKASSITRELQGRELKLTNLQENLS
EVSQVKETLEKELQILKEKFAEASEEAVSVQRSMQETVNKLHQKEEQFNMLSSDLEKLRE
NLADMEAKFREKDEREEQLIKAKEKLENDIAEIMKMSGDNSSQLTKMNDELRLKERDVEE
LQLKLTKANENASFLQKSIEDMTVKAEQSQQEAAKKHEEEKKELERKLSDLEKKMETSHN
QCQELKARYERATSETKTKHEEILQNLQKTLLDTEDKLKGAREENSGLLQELEELRKQAD
KAKAAQTAEDAMQIMEQMTKEKTETLASLEDTKQTNAKLQNELDTLKENNLKNVEELNKS
KELLTVENQKMEEFRKEIETLKQAAAQKSQQLSALQEENVKLAEELGRSRDEVTSHQKLE
EERSVLNNQLLEMKKRESKFIKDADEEKASLQKSISITSALLTEKDAELEKLRNEVTVLR
GENASAKSLHSVVQTLESDKVKLELKVKNLELQLKENKRQLSSSSGNTDTQADEDERAQE
SQIDFLNSVIVDLQRKNQDLKMKVEMMSEAALNGNGDDLNNYDSDDQEKQSKKKPRLFCD
ICDCFDLHDTEDC
PTQAQMSEDPPHSTHHGSRGEERPYCEICEMFGHWATNCNDDETF
Sequence length 1438
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway   Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases activate IQGAPs
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Short stature Pathogenic rs984649575 RCV000736141
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs117592229 RCV005933093
Cervical cancer Benign rs117592229 RCV005933095
Cholangiocarcinoma Benign rs117592229 RCV005933101
CLIP1-related disorder Benign; Likely benign rs34292795, rs200110148, rs139321433, rs148653401, rs547632811, rs137857498, rs141383610 RCV003984767
RCV003897394
RCV003917009
RCV003924201
RCV003914748
RCV003962377
RCV003925454
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32221746
Breast Neoplasms Associate 36424660
Carcinoma Renal Cell Associate 32467651
Coronary Artery Disease Associate 30655286
Glioblastoma Associate 11966772
Head and Neck Neoplasms Associate 32717241
Hereditary leiomyomatosis and renal cell cancer Associate 12433698
Hodgkin Disease Associate 10620705
Intellectual Disability Associate 24569606
Leukemia Associate 19903675, 20820776, 21310823, 21907692