Human Gene CLIP1 (uc001ucg.2)
  Description: Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.
RefSeq Summary (NM_001247997): 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, Oct 2011].
Transcript (Including UTRs)
   Position: hg19 chr12:122,755,981-122,907,116 Size: 151,136 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg19 chr12:122,757,422-122,864,999 Size: 107,578 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:122,755,981-122,907,116)mRNA (may differ from genome)Protein (1438 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CLIP1_HUMAN
DESCRIPTION: RecName: Full=CAP-Gly domain-containing linker protein 1; AltName: Full=Cytoplasmic linker protein 1; AltName: Full=Cytoplasmic linker protein 170 alpha-2; Short=CLIP-170; AltName: Full=Reed-Sternberg intermediate filament-associated protein; AltName: Full=Restin;
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 intracellular vesicle trafficking. Plays a role macropinocytosis and endosome trafficking.
SUBUNIT: Interacts with MTOR; phosphorylates and regulates CLIP1. Interacts (via CAP-Gly domains) with tubulin. Interacts with SLAIN2. Interacts (via zinc finger) with DCTN1. Interacts with MAPRE1 and MAPRE3.
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle. Note=Associated with the cytoskeleton. Detected at the plus ends of microtubules in the cytosol, and close to plasma membrane ruffles. Associates with the membranes of intermediate macropinocytic vesicles.
TISSUE SPECIFICITY: Detected in dendritic cells (at protein level). Highly expressed in the Reed-Sternberg cells of Hodgkin disease.
DOMAIN: Intramolecular interaction between the zinc finger domain and the CAP-Gly domains may inhibit interaction with tubulin.
PTM: Phosphorylated. Phosphorylation by MTOR may positively regulate CLIP1 association with microtubules.
SIMILARITY: Contains 2 CAP-Gly domains.
SIMILARITY: Contains 1 CCHC-type zinc finger.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CLIP1
CDC HuGE Published Literature: CLIP1
Positive Disease Associations: Tunica Media
Related Studies:
  1. Tunica Media
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: CLIP1
Diseases sorted by gene-association score: autosomal recessive non-syndromic intellectual disability* (78), extratemporal epilepsy (9), charcot-marie-tooth disease, axonal, type 2l (8), distal hereditary motor neuropathy, type ii (7), muscular dystrophy, rigid spine, 1 (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 65.09 RPKM in Muscle - Skeletal
Total median expression: 747.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.22155-0.292 Picture PostScript Text
3' UTR -313.521441-0.218 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000938 - CAP-Gly_domain
IPR001878 - Znf_CCHC

Pfam Domains:
PF01302 - CAP-Gly domain
PF14392 - Zinc knuckle
PF16641 - CLIP1 zinc knuckle

SCOP Domains:
74924 - Cap-Gly domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CP5 - NMR MuPIT 2CP6 - NMR MuPIT 2E3H - X-ray MuPIT 2E3I - X-ray MuPIT 2E4H - NMR MuPIT 2HQH - X-ray MuPIT 2QK0 - X-ray MuPIT 3E2U - X-ray MuPIT 3RDV - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P30622
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0008270 zinc ion binding
GO:0015631 tubulin binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0051010 microtubule plus-end binding

Biological Process:
GO:0000278 mitotic cell cycle
GO:0001578 microtubule bundle formation
GO:0031116 positive regulation of microtubule polymerization
GO:0044861 protein transport into plasma membrane raft

Cellular Component:
GO:0000776 kinetochore
GO:0001726 ruffle
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005881 cytoplasmic microtubule
GO:0005882 intermediate filament
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0035371 microtubule plus-end
GO:0042995 cell projection
GO:0044354 macropinosome


-  Descriptions from all associated GenBank mRNAs
  AB209115 - Homo sapiens mRNA for restin isoform a variant protein.
A21860 - H.sapiens MRP-160 mRNA.
X64838 - H.sapiens mRNA for restin.
AK126990 - Homo sapiens cDNA FLJ45045 fis, clone BRAWH3021580, highly similar to Restin (Cytoplasmic linker protein 170 alpha-2).
M97501 - Human cytoplasmic linker protein-170 alpha-2 (CLIP-170) mRNA, complete cds.
BC117209 - Homo sapiens CAP-GLY domain containing linker protein 1, mRNA (cDNA clone MGC:150818 IMAGE:40125760), complete cds.
BC126305 - Homo sapiens CAP-GLY domain containing linker protein 1, mRNA (cDNA clone MGC:161583 IMAGE:8992021), complete cds.
BC114213 - Homo sapiens CAP-GLY domain containing linker protein 1, mRNA (cDNA clone MGC:131604 IMAGE:7961952), complete cds.
JD183397 - Sequence 164421 from Patent EP1572962.
JD082561 - Sequence 63585 from Patent EP1572962.
JD304343 - Sequence 285367 from Patent EP1572962.
JD236266 - Sequence 217290 from Patent EP1572962.
JD040375 - Sequence 21399 from Patent EP1572962.
JD564908 - Sequence 545932 from Patent EP1572962.
JD553471 - Sequence 534495 from Patent EP1572962.
JD296566 - Sequence 277590 from Patent EP1572962.
JD230301 - Sequence 211325 from Patent EP1572962.
JD288325 - Sequence 269349 from Patent EP1572962.
JD389710 - Sequence 370734 from Patent EP1572962.
JD050888 - Sequence 31912 from Patent EP1572962.
JD149767 - Sequence 130791 from Patent EP1572962.
JD460106 - Sequence 441130 from Patent EP1572962.
JD310342 - Sequence 291366 from Patent EP1572962.
JD402807 - Sequence 383831 from Patent EP1572962.
AK123769 - Homo sapiens cDNA FLJ41775 fis, clone IMR322012314.
BC062543 - Homo sapiens CAP-GLY domain containing linker protein 1, mRNA (cDNA clone IMAGE:5921093), partial cds.
AY563000 - Homo sapiens restin isoform b (RSN) mRNA, partial cds, alternatively spliced.
AF045653 - Homo sapiens cytoplasmic linker protein CLIP-170 mRNA, CLIP(11+35) isoform, partial cds.
AF045652 - Homo sapiens cytoplasmic linker protein CLIP-170 mRNA, CLIP-170(11) isoform, partial cds.
BC047895 - Homo sapiens CAP-GLY domain containing linker protein 1, mRNA (cDNA clone IMAGE:5742243), partial cds.
BC039081 - Homo sapiens CAP-GLY domain containing linker protein 1, mRNA (cDNA clone IMAGE:5166086), with apparent retained intron.
KJ905913 - Synthetic construct Homo sapiens clone ccsbBroadEn_15583 CLIP1 gene, encodes complete protein.
CU691656 - Synthetic construct Homo sapiens gateway clone IMAGE:100022626 5' read CLIP1 mRNA.
JD185039 - Sequence 166063 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_Lis1Pathway - Lissencephaly gene (LIS1) in neuronal migration and development

Reactome (by CSHL, EBI, and GO)

Protein P30622 (Reactome details) participates in the following event(s):

R-HSA-5672329 IQGAP1 binds CLIP1 and microtubules
R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-5626467 RHO GTPases activate IQGAPs
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-195258 RHO GTPase Effectors
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-194315 Signaling by Rho GTPases
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-162582 Signal Transduction
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A0AVD3, CLIP1_HUMAN, CYLN1, NM_001247997, NP_001234926, P30622, Q17RS4, Q29RG0, RSN
UCSC ID: uc001ucg.2
RefSeq Accession: NM_001247997
Protein: P30622 (aka CLIP1_HUMAN)
CCDS: CCDS9232.1, CCDS9233.1, CCDS58285.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001247997.1
exon count: 26CDS single in 3' UTR: no RNA size: 5931
ORF size: 4317CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 8816.00frame shift in genome: no % Coverage: 99.70
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.