Human Gene ICE1 (ENST00000296564.9_7) from GENCODE V47lift37
  Description: interactor of little elongation complex ELL subunit 1 (from RefSeq NM_015325.3)
Gencode Transcript: ENST00000296564.9_7
Gencode Gene: ENSG00000164151.12_13
Transcript (Including UTRs)
   Position: hg19 chr5:5,422,790-5,490,333 Size: 67,544 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr5:5,423,029-5,489,443 Size: 66,415 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:5,422,790-5,490,333)mRNA (may differ from genome)Protein (2266 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K0947_HUMAN
DESCRIPTION: RecName: Full=Uncharacterized protein KIAA0947;
SEQUENCE CAUTION: Sequence=BAA76791.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC86755.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=CAB70661.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB70661.1; Type=Erroneous termination; Positions=2051; Note=Translated as Gln;

-  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


+  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: 11.72 RPKM in Brain - Cerebellum
Total median expression: 318.58 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 -126.70239-0.530 Picture PostScript Text
3' UTR -212.34890-0.239 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
  SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain
103657 - BAR/IMD domain-like

ModBase Predicted Comparative 3D Structure on Q9Y2F5
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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 DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0031334 positive regulation of protein complex assembly
GO:0042795 snRNA transcription from RNA polymerase II promoter
GO:0042796 snRNA transcription from RNA polymerase III promoter
GO:0045945 positive regulation of transcription from RNA polymerase III promoter
GO:0090316 positive regulation of intracellular protein transport

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0008023 transcription elongation factor complex
GO:0015030 Cajal body
GO:0016604 nuclear body
GO:0035327 transcriptionally active chromatin
GO:0035363 histone locus body


-  Descriptions from all associated GenBank mRNAs
  AK126937 - Homo sapiens cDNA FLJ44990 fis, clone BRAWH3008559.
AB023164 - Homo sapiens KIAA0947 mRNA for KIAA0947 protein.
AB384549 - Synthetic construct DNA, clone: pF1KA0947, Homo sapiens KIAA0947 gene for KIAA0947 protein, complete cds, without stop codon, in Flexi system.
CR749441 - Homo sapiens mRNA; cDNA DKFZp781J2344 (from clone DKFZp781J2344).
AL832204 - Homo sapiens mRNA; cDNA DKFZp686I162 (from clone DKFZp686I162).
JD111851 - Sequence 92875 from Patent EP1572962.
AK096615 - Homo sapiens cDNA FLJ39296 fis, clone OCBBF2012755.
AK095073 - Homo sapiens cDNA FLJ37754 fis, clone BRHIP2023695.
BX538020 - Homo sapiens mRNA; cDNA DKFZp686P1046 (from clone DKFZp686P1046).
DQ593754 - Homo sapiens piRNA piR-33866, complete sequence.
AK024400 - Homo sapiens cDNA FLJ14338 fis, clone PLACE4000548, weakly similar to GLUCOAMYLASE S1/S2 PRECURSOR (EC 3.2.1.3).
AK130025 - Homo sapiens cDNA FLJ26515 fis, clone KDN07732.
BC004902 - Homo sapiens KIAA0947 protein, mRNA (cDNA clone IMAGE:3605145), partial cds.
AL137260 - Homo sapiens mRNA; cDNA DKFZp434G0813 (from clone DKFZp434G0813); partial cds.
AK025279 - Homo sapiens cDNA: FLJ21626 fis, clone COL08044.
BC041002 - Homo sapiens KIAA0947 protein, mRNA (cDNA clone IMAGE:5274179).
JD392497 - Sequence 373521 from Patent EP1572962.
JD304539 - Sequence 285563 from Patent EP1572962.
JD093256 - Sequence 74280 from Patent EP1572962.
JD368371 - Sequence 349395 from Patent EP1572962.
JD204299 - Sequence 185323 from Patent EP1572962.
JD372501 - Sequence 353525 from Patent EP1572962.
JD512967 - Sequence 493991 from Patent EP1572962.
JD528269 - Sequence 509293 from Patent EP1572962.
JD302433 - Sequence 283457 from Patent EP1572962.

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

Protein Q9Y2F5 (Reactome details) participates in the following event(s):

R-HSA-6814885 CBCAP complex binds 7-methylguanosine cap of snRNA
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000296564.1, ENST00000296564.2, ENST00000296564.3, ENST00000296564.4, ENST00000296564.5, ENST00000296564.6, ENST00000296564.7, ENST00000296564.8, ICE1_HUMAN, KIAA0947, NM_015325, Q68DE1, Q6ZT40, Q7L587, Q7Z3A9, Q9NTH9, Q9Y2F5, uc317lva.1, uc317lva.2
UCSC ID: ENST00000296564.9_7
RefSeq Accession: NM_015325.3
Protein: Q9Y2F5 (aka K0947_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.