Human Gene CLINT1 (uc011ddv.2) Description and Page Index
  Description: Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 1, mRNA.
RefSeq Summary (NM_001195555): This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010].
Transcript (Including UTRs)
   Position: hg19 chr5:157,212,751-157,286,183 Size: 73,433 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 LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:157,212,751-157,286,183)mRNA (may differ from genome)Protein (643 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CLINT1
CDC HuGE Published Literature: CLINT1
Positive Disease Associations: Body Weight , Osteoporosis , psychotic disorders
Related Studies:
  1. Body Weight
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Osteoporosis
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
  3. psychotic disorders
    Michael Escamilla , et al. Schizophrenia research 2008 106(2-3):253-7, The epsin 4 gene is associated with psychotic disorders in families of Latin American origin., Schizophrenia research 2008 106(2-3):253-7. [PubMed 18929466]
           more ... click here to view the complete list

-  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 -110.30205-0.538 Picture PostScript Text
3' UTR -439.001903-0.231 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
  Pfam Domains:
PF01417 - ENTH domain
PF07651 - ANTH domain

SCOP Domains:
48464 - ENTH/VHS domain

ModBase Predicted Comparative 3D Structure on Q14677-3
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 BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  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: ENTH, EPN4, EPNR, KIAA0171, NM_001195555, NP_001182485, Q14677-3
UCSC ID: uc011ddv.2
RefSeq Accession: NM_001195555
Protein: Q14677-3, splice isoform of Q14677 CCDS: CCDS47330.1, CCDS56388.1, CCDS56389.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001195555.1
exon count: 12CDS single in 3' UTR: no RNA size: 4061
ORF size: 1932CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3792.00frame shift in genome: no % Coverage: 99.48
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.