Human Gene CLINT1 (ENST00000411809.7_9) from GENCODE V47lift37
  Description: clathrin interactor 1, transcript variant 2 (from RefSeq NM_014666.4)
Gencode Transcript: ENST00000411809.7_9
Gencode Gene: ENSG00000113282.14_14
Transcript (Including UTRs)
   Position: hg19 chr5:157,212,755-157,286,153 Size: 73,399 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr5:157,214,654-157,285,978 Size: 71,325 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:157,212,755-157,286,153)mRNA (may differ from genome)Protein (625 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EPN4_HUMAN
DESCRIPTION: RecName: Full=Clathrin interactor 1; AltName: Full=Clathrin-interacting protein localized in the trans-Golgi region; Short=Clint; AltName: Full=Enthoprotin; AltName: Full=Epsin-4; AltName: Full=Epsin-related protein; Short=EpsinR;
FUNCTION: Binds to membranes enriched in phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly.
SUBUNIT: Binds clathrin heavy chain, GGA2, AP-2 and AP1G1.
INTERACTION: Q9H0R8:GABARAPL1; NbExp=2; IntAct=EBI-1171113, EBI-746969; Q9GZQ8:MAP1LC3B; NbExp=2; IntAct=EBI-1171113, EBI-373144;
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Found throughout the cell, with the exception of the cell surface. Concentrated in the perinuclear region and associated with clathrin-coated vesicles close to the trans-Golgi network.
TISSUE SPECIFICITY: Ubiquitously expressed at low to intermediate levels.
POLYMORPHISM: Genetic variations in CLINT1 may contribute to susceptibility to schizophrenia and psychotic disorders in some populations.
SIMILARITY: Belongs to the epsin family.
SIMILARITY: Contains 1 ENTH (epsin N-terminal homology) domain.
SEQUENCE CAUTION: Sequence=BAA11488.2; Type=Erroneous initiation;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: CLINT1
Diseases sorted by gene-association score: schizophrenia (6), cataract 8, multiple types (3), xanthinuria (2)

-  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: 45.28 RPKM in Esophagus - Mucosa
Total median expression: 924.16 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 -89.80175-0.513 Picture PostScript Text
3' UTR -411.501899-0.217 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
IPR008942 - ENTH_VHS
IPR013809 - Epsin-like_N
IPR001026 - Epsin_dom_N

Pfam Domains:
PF01417 - ENTH domain
PF07651 - ANTH domain

SCOP Domains:
48464 - ENTH/VHS domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1XGW - X-ray MuPIT 2QY7 - X-ray MuPIT 2V8S - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14677
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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 orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0030276 clathrin binding
GO:0045296 cadherin binding

Biological Process:
GO:0006897 endocytosis
GO:0016192 vesicle-mediated transport
GO:0048268 clathrin coat assembly

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0030136 clathrin-coated vesicle
GO:0031410 cytoplasmic vesicle
GO:0043231 intracellular membrane-bounded organelle
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC013091 - Homo sapiens clathrin interactor 1, mRNA (cDNA clone IMAGE:3881669), partial cds.
AL833548 - Homo sapiens mRNA; cDNA DKFZp686N133 (from clone DKFZp686N133).
D79993 - Homo sapiens KIAA0171 mRNA.
BC030264 - Homo sapiens clathrin interactor 1, mRNA (cDNA clone IMAGE:5218105).
AK128594 - Homo sapiens cDNA FLJ46753 fis, clone TRACH3023203.
JD359292 - Sequence 340316 from Patent EP1572962.
JD268216 - Sequence 249240 from Patent EP1572962.
AK092765 - Homo sapiens cDNA FLJ35446 fis, clone SMINT2003644, weakly similar to Drosophila melanogaster epsin-like protein mRNA.
AX747715 - Sequence 1240 from Patent EP1308459.
JD295013 - Sequence 276037 from Patent EP1572962.
JD565186 - Sequence 546210 from Patent EP1572962.
JD300791 - Sequence 281815 from Patent EP1572962.
JD469600 - Sequence 450624 from Patent EP1572962.
JD488434 - Sequence 469458 from Patent EP1572962.
JD049861 - Sequence 30885 from Patent EP1572962.
JD096974 - Sequence 77998 from Patent EP1572962.
JD114655 - Sequence 95679 from Patent EP1572962.
JD532962 - Sequence 513986 from Patent EP1572962.
JD297047 - Sequence 278071 from Patent EP1572962.
JD346083 - Sequence 327107 from Patent EP1572962.
AK300257 - Homo sapiens cDNA FLJ61629 complete cds, highly similar to Clathrin interactor 1.
BC004467 - Homo sapiens clathrin interactor 1, mRNA (cDNA clone MGC:10257 IMAGE:3831533), complete cds.
JD196863 - Sequence 177887 from Patent EP1572962.
JD090958 - Sequence 71982 from Patent EP1572962.
JD359681 - Sequence 340705 from Patent EP1572962.
JD530894 - Sequence 511918 from Patent EP1572962.
AF434813 - Homo sapiens epsin 4 mRNA, complete cds.
AB383781 - Synthetic construct DNA, clone: pF1KSDA0171, Homo sapiens KIAA0171 gene for KIAA0171 protein, complete cds, without stop codon, in Flexi system.
KJ892833 - Synthetic construct Homo sapiens clone ccsbBroadEn_02227 CLINT1 gene, encodes complete protein.
KU178486 - Homo sapiens clathrin interactor 1 isoform 1 (CLINT1) mRNA, partial cds.
KU178487 - Homo sapiens clathrin interactor 1 isoform 2 (CLINT1) mRNA, partial cds.
CU678734 - Synthetic construct Homo sapiens gateway clone IMAGE:100020404 5' read CLINT1 mRNA.
JD520830 - Sequence 501854 from Patent EP1572962.
JD211530 - Sequence 192554 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14677 (Reactome details) participates in the following event(s):

R-HSA-434362 Recruitment Of Cytoplasmic Proteins To Vesicles
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z6F8, D3DQJ6, ENST00000411809.1, ENST00000411809.2, ENST00000411809.3, ENST00000411809.4, ENST00000411809.5, ENST00000411809.6, ENTH, EPN4, EPN4_HUMAN, EPNR, KIAA0171, NM_014666, Q14677, Q8NAF1, Q96E05, uc319hwf.1, uc319hwf.2
UCSC ID: ENST00000411809.7_9
RefSeq Accession: NM_014666.4
Protein: Q14677 (aka EPN4_HUMAN)

-  Gene Model Information
  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.