Human Gene KIAA1217 (ENST00000376454.8_11) from GENCODE V47lift37
  Description: KIAA1217, transcript variant 1 (from RefSeq NM_019590.5)
Gencode Transcript: ENST00000376454.8_11
Gencode Gene: ENSG00000120549.19_19
Transcript (Including UTRs)
   Position: hg19 chr10:24,498,067-24,836,772 Size: 338,706 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr10:24,498,123-24,835,253 Size: 337,131 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:24,498,067-24,836,772)mRNA (may differ from genome)Protein (1943 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SKT_HUMAN
DESCRIPTION: RecName: Full=Sickle tail protein homolog;
FUNCTION: Required for normal development of intervertebral disks (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
SEQUENCE CAUTION: Sequence=AAH18764.1; Type=Erroneous initiation; Sequence=AL833280; Type=Frameshift; Positions=976; Sequence=BAC86241.1; Type=Erroneous initiation; Sequence=BAF63529.1; Type=Erroneous initiation; Sequence=CAE45879.1; Type=Erroneous termination; Positions=1251; Note=Translated as Leu; Sequence=CAI12212.1; Type=Erroneous gene model prediction; Sequence=CAI14084.1; Type=Erroneous gene model prediction; Sequence=CAI40182.1; 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


-  MalaCards Disease Associations
  MalaCards Gene Search: KIAA1217
Diseases sorted by gene-association score: adjustment disorder (7)

-  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: 20.86 RPKM in Minor Salivary Gland
Total median expression: 299.50 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.9056-0.266 Picture PostScript Text
3' UTR -350.471519-0.231 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
  InterPro Domains: Graphical view of domain structure
IPR026725 - Skt

Pfam Domains:
PF03915 - Actin interacting protein 3

ModBase Predicted Comparative 3D Structure on Q5T5P2
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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 Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0007275 multicellular organism development
GO:0048706 embryonic skeletal system development

Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AB033043 - Homo sapiens KIAA1217 mRNA for KIAA1217 protein.
AK091142 - Homo sapiens cDNA FLJ33823 fis, clone CTONG2003361, weakly similar to Rattus norvegicus SNIP-a mRNA.
AX746804 - Sequence 329 from Patent EP1308459.
AL833280 - Homo sapiens mRNA; cDNA DKFZp451I248 (from clone DKFZp451I248).
BC136521 - Homo sapiens KIAA1217, mRNA (cDNA clone MGC:168134 IMAGE:9020511), complete cds.
BC144227 - Homo sapiens KIAA1217, mRNA (cDNA clone MGC:177764 IMAGE:9052747), complete cds.
AB291616 - Homo sapiens SKT mRNA for Sickle tail, complete cds.
AB384143 - Synthetic construct DNA, clone: pF1KSDA1217, Homo sapiens KIAA1217 gene for sickle tail protein homolog, complete cds, without stop codon, in Flexi system.
AK096446 - Homo sapiens cDNA FLJ39127 fis, clone NTONG2007522, weakly similar to Rattus norvegicus SNIP-a mRNA.
AK303905 - Homo sapiens cDNA FLJ56199 complete cds, weakly similar to p130Cas-associated protein.
BC018764 - Homo sapiens KIAA1217, mRNA (cDNA clone IMAGE:3604428), complete cds.
AK300422 - Homo sapiens cDNA FLJ57813 complete cds, weakly similar to p130Cas-associated protein.
BX648451 - Homo sapiens mRNA; cDNA DKFZp686D1866 (from clone DKFZp686D1866).
BX640796 - Homo sapiens mRNA; cDNA DKFZp686E0469 (from clone DKFZp686E0469); complete cds.
BC098577 - Homo sapiens KIAA1217, mRNA (cDNA clone IMAGE:30920734), complete cds.
KJ902903 - Synthetic construct Homo sapiens clone ccsbBroadEn_12297 KIAA1217 gene, encodes complete protein.
JD300784 - Sequence 281808 from Patent EP1572962.
JD452908 - Sequence 433932 from Patent EP1572962.
LF346214 - JP 2014500723-A/153717: Polycomb-Associated Non-Coding RNAs.
LF205560 - JP 2014500723-A/13063: Polycomb-Associated Non-Coding RNAs.
LF346215 - JP 2014500723-A/153718: Polycomb-Associated Non-Coding RNAs.
MA581791 - JP 2018138019-A/153717: Polycomb-Associated Non-Coding RNAs.
MA581792 - JP 2018138019-A/153718: Polycomb-Associated Non-Coding RNAs.
MA441137 - JP 2018138019-A/13063: Polycomb-Associated Non-Coding RNAs.
AK024199 - Homo sapiens cDNA FLJ14137 fis, clone MAMMA1002764.
AK021984 - Homo sapiens cDNA FLJ11922 fis, clone HEMBB1000336.
AL157473 - Homo sapiens mRNA; cDNA DKFZp761L0424 (from clone DKFZp761L0424).
BC017424 - Homo sapiens KIAA1217, mRNA (cDNA clone IMAGE:4693518), partial cds.
AK125675 - Homo sapiens cDNA FLJ43687 fis, clone TBAES2002197.
AK055179 - Homo sapiens cDNA FLJ30617 fis, clone CTONG2001366, weakly similar to GLUCOAMYLASE S1/S2 PRECURSOR (EC 3.2.1.3).
JD111313 - Sequence 92337 from Patent EP1572962.
JD285031 - Sequence 266055 from Patent EP1572962.
JD058507 - Sequence 39531 from Patent EP1572962.
JD566415 - Sequence 547439 from Patent EP1572962.
JD328570 - Sequence 309594 from Patent EP1572962.
JD063411 - Sequence 44435 from Patent EP1572962.
JD042261 - Sequence 23285 from Patent EP1572962.
JD502996 - Sequence 484020 from Patent EP1572962.
JD052072 - Sequence 33096 from Patent EP1572962.
JD056335 - Sequence 37359 from Patent EP1572962.
JD049879 - Sequence 30903 from Patent EP1572962.
JD306985 - Sequence 288009 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A5LHW9, A6NLF3, A6PVQ5, A6PVQ6, A6PVQ7, B9EGK4, ENST00000376454.1, ENST00000376454.2, ENST00000376454.3, ENST00000376454.4, ENST00000376454.5, ENST00000376454.6, ENST00000376454.7, NM_019590, Q4KMG4, Q5T5P2, Q5T5P3, Q5T7H3, Q6MZZ6, Q6ZUI4, Q8WV45, Q9NSR2, Q9ULK3, SKT, SKT_HUMAN, uc318myl.1, uc318myl.2
UCSC ID: ENST00000376454.8_11
RefSeq Accession: NM_019590.5
Protein: Q5T5P2 (aka SKT_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.