Human Gene CWF19L1 (uc001kqs.1)
  Description: Homo sapiens CWF19-like 1, cell cycle control (S. pombe) (CWF19L1), mRNA.
RefSeq Summary (NM_018294): This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].
Transcript (Including UTRs)
   Position: hg19 chr10:101,992,055-102,027,437 Size: 35,383 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr10:101,992,984-102,006,656 Size: 13,673 Coding Exon Count: 7 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:101,992,055-102,027,437)mRNA (may differ from genome)Protein (290 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: C19L1_HUMAN
DESCRIPTION: RecName: Full=CWF19-like protein 1;
SIMILARITY: Belongs to the CWF19 family.
SEQUENCE CAUTION: Sequence=CAH72402.1; Type=Erroneous gene model prediction;

-  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): CWF19L1
CDC HuGE Published Literature: CWF19L1
Positive Disease Associations: Depressive Disorder, Major
Related Studies:
  1. Depressive Disorder, Major
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: CWF19L1
Diseases sorted by gene-association score: spinocerebellar ataxia, autosomal recessive 17* (1369), autosomal recessive cerebellar ataxia (7), cerebellar ataxia (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 12.73 RPKM in Testis
Total median expression: 257.81 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 -184.45600-0.307 Picture PostScript Text
3' UTR -432.10929-0.465 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
IPR006768 - Cwf19-like_C_dom-1
IPR006767 - Cwf19-like_C_dom-2
IPR011146 - HIT-like

Pfam Domains:
PF04676 - Protein similar to CwfJ C-terminus 2
PF04677 - Protein similar to CwfJ C-terminus 1

SCOP Domains:
54197 - HIT-like

ModBase Predicted Comparative 3D Structure on Q69YN2
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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 orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0008150 biological_process

Cellular Component:
GO:0005575 cellular_component


-  Descriptions from all associated GenBank mRNAs
  AL832515 - Homo sapiens mRNA; cDNA DKFZp762C091 (from clone DKFZp762C091).
AK097895 - Homo sapiens cDNA FLJ40576 fis, clone THYMU2007350.
AK023984 - Homo sapiens cDNA FLJ13922 fis, clone Y79AA1000480.
BC008746 - Homo sapiens CWF19-like 1, cell cycle control (S. pombe), mRNA (cDNA clone MGC:906 IMAGE:3345869), complete cds.
AK055313 - Homo sapiens cDNA FLJ30751 fis, clone FEBRA2000409.
AK225590 - Homo sapiens mRNA for CWF19-like 1, cell cycle control variant, clone: LNG15514.
AK000876 - Homo sapiens cDNA FLJ10014 fis, clone HEMBA1000387.
AK001860 - Homo sapiens cDNA FLJ10998 fis, clone PLACE1002465.
JD220060 - Sequence 201084 from Patent EP1572962.
JD366724 - Sequence 347748 from Patent EP1572962.
JD534875 - Sequence 515899 from Patent EP1572962.
JD292594 - Sequence 273618 from Patent EP1572962.
JD149969 - Sequence 130993 from Patent EP1572962.
JD464214 - Sequence 445238 from Patent EP1572962.
JD448377 - Sequence 429401 from Patent EP1572962.
JD332384 - Sequence 313408 from Patent EP1572962.
JD308919 - Sequence 289943 from Patent EP1572962.
JD096443 - Sequence 77467 from Patent EP1572962.
JD177491 - Sequence 158515 from Patent EP1572962.
AK295303 - Homo sapiens cDNA FLJ55971 complete cds, highly similar to Homo sapiens CWF19-like 1, cell cycle control, mRNA.
JD281372 - Sequence 262396 from Patent EP1572962.
JD198298 - Sequence 179322 from Patent EP1572962.
JD160716 - Sequence 141740 from Patent EP1572962.
JD299639 - Sequence 280663 from Patent EP1572962.
JF432814 - Synthetic construct Homo sapiens clone IMAGE:100074132 CWF19-like 1, cell cycle control (S. pombe) (CWF19L1) gene, encodes complete protein.
KJ899110 - Synthetic construct Homo sapiens clone ccsbBroadEn_08504 CWF19L1 gene, encodes complete protein.
KU178692 - Homo sapiens CWF19-like 1 cell cycle control isoform 1 (CWF19L1) mRNA, partial cds.
KU178693 - Homo sapiens CWF19-like 1 cell cycle control isoform 3 (CWF19L1) mRNA, complete cds, alternatively spliced.
CU679081 - Synthetic construct Homo sapiens gateway clone IMAGE:100019816 5' read CWF19L1 mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: AK097895, B4DHX1, C19L1_HUMAN, D3DR66, Q5W0I3, Q69YN2, Q96HC3, Q9H865, Q9NV13
UCSC ID: uc001kqs.1
RefSeq Accession: NM_018294
Protein: Q69YN2 (aka C19L1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CWF19L1:
ataxias (Hereditary Ataxia Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK097895.1
exon count: 13CDS single in 3' UTR: no RNA size: 2411
ORF size: 873CDS single in intron: no Alignment % ID: 99.54
txCdsPredict score: 1523.00frame shift in genome: no % Coverage: 99.59
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.