Human Gene KIAA1109 (uc003ieh.3)
  Description: Homo sapiens KIAA1109 (KIAA1109), mRNA.
RefSeq Summary (NM_015312): This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009].
Transcript (Including UTRs)
   Position: hg19 chr4:123,091,758-123,283,914 Size: 192,157 Total Exon Count: 84 Strand: +
Coding Region
   Position: hg19 chr4:123,091,803-123,283,402 Size: 191,600 Coding Exon Count: 84 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:123,091,758-123,283,914)mRNA (may differ from genome)Protein (5005 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K1109_HUMAN
DESCRIPTION: RecName: Full=Uncharacterized protein KIAA1109; AltName: Full=Fragile site-associated protein;
INTERACTION: P35222:CTNNB1; NbExp=2; IntAct=EBI-2683809, EBI-491549;
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
TISSUE SPECIFICITY: Highly expressed in testis and ovary. Weakly or not expressed in other tissues.
MISCELLANEOUS: KIAA1109 is mapped in the genomic region associated with susceptibility to celiac disease (CELIAC6).
SEQUENCE CAUTION: Sequence=AAH18094.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH45783.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI08275.1; Type=Erroneous termination; Positions=4807; Note=Translated as Glu; Sequence=BAB15057.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC85988.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC87084.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;

-  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): KIAA1109
CDC HuGE Published Literature: KIAA1109
Positive Disease Associations: Arthritis, Rheumatoid , Celiac disease , Diabetes Mellitus, Type 1
Related Studies:
  1. Arthritis, Rheumatoid
    Eli A Stahl et al. Nature genetics 2010, Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci., Nature genetics. [PubMed 20453842]
  2. Celiac disease
    Hunt ,et al. 2008, Newly identified genetic risk variants for celiac disease related to the immune response, Nature genetics 2008 40- 4 : 395-402. [PubMed 18311140]
  3. Celiac disease
    van Heel ,et al. 2007, A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21, Nature genetics 2007 39- 7 : 827-9. [PubMed 17558408]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: KIAA1109
Diseases sorted by gene-association score: celiac disease (16), connective tissue cancer (9), posterior uveitis (8), dentin caries (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: 15.48 RPKM in Pituitary
Total median expression: 403.20 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 -3.4045-0.076 Picture PostScript Text
3' UTR -94.26512-0.184 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
IPR018863 - Fragile_site-assoc_C

Pfam Domains:
PF10479 - Fragile site-associated protein C-terminus

ModBase Predicted Comparative 3D Structure on Q2LD37
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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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

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

Biological Process:
GO:0001558 regulation of cell growth
GO:0030856 regulation of epithelial cell differentiation

Cellular Component:
GO:0005634 nucleus
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF206099 - JP 2014500723-A/13602: Polycomb-Associated Non-Coding RNAs.
DQ335469 - Homo sapiens fragile site-associated protein (FSA) mRNA, complete cds.
AB029032 - Homo sapiens mRNA for KIAA1109 protein, partial cds.
AB384563 - Synthetic construct DNA, clone: pF1KA1109, Homo sapiens KIAA1109 gene for KIAA1109 protein, complete cds, without stop codon, in Flexi system.
AL137384 - Homo sapiens mRNA; cDNA DKFZp434M0126 (from clone DKFZp434M0126).
MA441676 - JP 2018138019-A/13602: Polycomb-Associated Non-Coding RNAs.
LF351371 - JP 2014500723-A/158874: Polycomb-Associated Non-Coding RNAs.
AK124902 - Homo sapiens cDNA FLJ42912 fis, clone BRHIP3024533.
LF351372 - JP 2014500723-A/158875: Polycomb-Associated Non-Coding RNAs.
LF351373 - JP 2014500723-A/158876: Polycomb-Associated Non-Coding RNAs.
LF351374 - JP 2014500723-A/158877: Polycomb-Associated Non-Coding RNAs.
LF351375 - JP 2014500723-A/158878: Polycomb-Associated Non-Coding RNAs.
LF351378 - JP 2014500723-A/158881: Polycomb-Associated Non-Coding RNAs.
AK127686 - Homo sapiens cDNA FLJ45784 fis, clone NETRP2006468.
LF351379 - JP 2014500723-A/158882: Polycomb-Associated Non-Coding RNAs.
LF351380 - JP 2014500723-A/158883: Polycomb-Associated Non-Coding RNAs.
LF351381 - JP 2014500723-A/158884: Polycomb-Associated Non-Coding RNAs.
LF351383 - JP 2014500723-A/158886: Polycomb-Associated Non-Coding RNAs.
AB037792 - Homo sapiens mRNA for KIAA1371 protein, partial cds.
LF351384 - JP 2014500723-A/158887: Polycomb-Associated Non-Coding RNAs.
JD227850 - Sequence 208874 from Patent EP1572962.
LF351386 - JP 2014500723-A/158889: Polycomb-Associated Non-Coding RNAs.
LF351387 - JP 2014500723-A/158890: Polycomb-Associated Non-Coding RNAs.
LF351388 - JP 2014500723-A/158891: Polycomb-Associated Non-Coding RNAs.
LF351389 - JP 2014500723-A/158892: Polycomb-Associated Non-Coding RNAs.
LF351390 - JP 2014500723-A/158893: Polycomb-Associated Non-Coding RNAs.
LF351391 - JP 2014500723-A/158894: Polycomb-Associated Non-Coding RNAs.
CR936613 - Homo sapiens mRNA; cDNA DKFZp781P0474 (from clone DKFZp781P0474).
LF351392 - JP 2014500723-A/158895: Polycomb-Associated Non-Coding RNAs.
AK309063 - Homo sapiens cDNA, FLJ99104.
AK095216 - Homo sapiens cDNA FLJ37897 fis, clone CD34C3000125.
LF351396 - JP 2014500723-A/158899: Polycomb-Associated Non-Coding RNAs.
AK025057 - Homo sapiens cDNA: FLJ21404 fis, clone COL03835.
JD346863 - Sequence 327887 from Patent EP1572962.
AK225886 - Homo sapiens mRNA for hypothetical protein KIAA1109 variant, clone: FCC121H12.
JD437876 - Sequence 418900 from Patent EP1572962.
LF351398 - JP 2014500723-A/158901: Polycomb-Associated Non-Coding RNAs.
MA586948 - JP 2018138019-A/158874: Polycomb-Associated Non-Coding RNAs.
MA586949 - JP 2018138019-A/158875: Polycomb-Associated Non-Coding RNAs.
MA586950 - JP 2018138019-A/158876: Polycomb-Associated Non-Coding RNAs.
MA586951 - JP 2018138019-A/158877: Polycomb-Associated Non-Coding RNAs.
MA586952 - JP 2018138019-A/158878: Polycomb-Associated Non-Coding RNAs.
MA586955 - JP 2018138019-A/158881: Polycomb-Associated Non-Coding RNAs.
MA586956 - JP 2018138019-A/158882: Polycomb-Associated Non-Coding RNAs.
MA586957 - JP 2018138019-A/158883: Polycomb-Associated Non-Coding RNAs.
MA586958 - JP 2018138019-A/158884: Polycomb-Associated Non-Coding RNAs.
MA586960 - JP 2018138019-A/158886: Polycomb-Associated Non-Coding RNAs.
MA586961 - JP 2018138019-A/158887: Polycomb-Associated Non-Coding RNAs.
MA586963 - JP 2018138019-A/158889: Polycomb-Associated Non-Coding RNAs.
MA586964 - JP 2018138019-A/158890: Polycomb-Associated Non-Coding RNAs.
MA586965 - JP 2018138019-A/158891: Polycomb-Associated Non-Coding RNAs.
MA586966 - JP 2018138019-A/158892: Polycomb-Associated Non-Coding RNAs.
MA586967 - JP 2018138019-A/158893: Polycomb-Associated Non-Coding RNAs.
MA586968 - JP 2018138019-A/158894: Polycomb-Associated Non-Coding RNAs.
MA586969 - JP 2018138019-A/158895: Polycomb-Associated Non-Coding RNAs.
MA586973 - JP 2018138019-A/158899: Polycomb-Associated Non-Coding RNAs.
MA586975 - JP 2018138019-A/158901: Polycomb-Associated Non-Coding RNAs.
LF351400 - JP 2014500723-A/158903: Polycomb-Associated Non-Coding RNAs.
LF351401 - JP 2014500723-A/158904: Polycomb-Associated Non-Coding RNAs.
JD068363 - Sequence 49387 from Patent EP1572962.
LF351404 - JP 2014500723-A/158907: Polycomb-Associated Non-Coding RNAs.
LF351405 - JP 2014500723-A/158908: Polycomb-Associated Non-Coding RNAs.
LF351406 - JP 2014500723-A/158909: Polycomb-Associated Non-Coding RNAs.
AL833461 - Homo sapiens mRNA; cDNA DKFZp686O01116 (from clone DKFZp686O01116).
LF351407 - JP 2014500723-A/158910: Polycomb-Associated Non-Coding RNAs.
LF351409 - JP 2014500723-A/158912: Polycomb-Associated Non-Coding RNAs.
LF351410 - JP 2014500723-A/158913: Polycomb-Associated Non-Coding RNAs.
LF351412 - JP 2014500723-A/158915: Polycomb-Associated Non-Coding RNAs.
LF351413 - JP 2014500723-A/158916: Polycomb-Associated Non-Coding RNAs.
AL137254 - Homo sapiens mRNA; cDNA DKFZp434B1113 (from clone DKFZp434B1113); partial cds.
AK127698 - Homo sapiens cDNA FLJ45798 fis, clone NT2RI2015533.
LF351414 - JP 2014500723-A/158917: Polycomb-Associated Non-Coding RNAs.
LF351416 - JP 2014500723-A/158919: Polycomb-Associated Non-Coding RNAs.
AK303483 - Homo sapiens cDNA FLJ56032 complete cds.
AL137532 - Homo sapiens mRNA; cDNA DKFZp434G1619 (from clone DKFZp434G1619); partial cds.
LF351417 - JP 2014500723-A/158920: Polycomb-Associated Non-Coding RNAs.
BC032408 - Homo sapiens KIAA1109, mRNA (cDNA clone IMAGE:5209201), containing frame-shift errors.
LF351418 - JP 2014500723-A/158921: Polycomb-Associated Non-Coding RNAs.
LF351419 - JP 2014500723-A/158922: Polycomb-Associated Non-Coding RNAs.
AK024043 - Homo sapiens cDNA FLJ13981 fis, clone Y79AA1001696, highly similar to Homo sapiens mRNA for KIAA1109 protein.
LF351420 - JP 2014500723-A/158923: Polycomb-Associated Non-Coding RNAs.
LF351421 - JP 2014500723-A/158924: Polycomb-Associated Non-Coding RNAs.
BC108274 - Homo sapiens KIAA1109, mRNA (cDNA clone IMAGE:3924668), complete cds.
LF351422 - JP 2014500723-A/158925: Polycomb-Associated Non-Coding RNAs.
LF351423 - JP 2014500723-A/158926: Polycomb-Associated Non-Coding RNAs.
BC018094 - Homo sapiens KIAA1109, mRNA (cDNA clone IMAGE:4793555), complete cds.
BC045783 - Homo sapiens KIAA1109, mRNA (cDNA clone IMAGE:4793289), complete cds.
LF351424 - JP 2014500723-A/158927: Polycomb-Associated Non-Coding RNAs.
LF351425 - JP 2014500723-A/158928: Polycomb-Associated Non-Coding RNAs.
JD229283 - Sequence 210307 from Patent EP1572962.
MA586977 - JP 2018138019-A/158903: Polycomb-Associated Non-Coding RNAs.
MA586978 - JP 2018138019-A/158904: Polycomb-Associated Non-Coding RNAs.
MA586981 - JP 2018138019-A/158907: Polycomb-Associated Non-Coding RNAs.
MA586982 - JP 2018138019-A/158908: Polycomb-Associated Non-Coding RNAs.
MA586983 - JP 2018138019-A/158909: Polycomb-Associated Non-Coding RNAs.
MA586984 - JP 2018138019-A/158910: Polycomb-Associated Non-Coding RNAs.
MA586986 - JP 2018138019-A/158912: Polycomb-Associated Non-Coding RNAs.
MA586987 - JP 2018138019-A/158913: Polycomb-Associated Non-Coding RNAs.
MA586989 - JP 2018138019-A/158915: Polycomb-Associated Non-Coding RNAs.
MA586990 - JP 2018138019-A/158916: Polycomb-Associated Non-Coding RNAs.
MA586991 - JP 2018138019-A/158917: Polycomb-Associated Non-Coding RNAs.
MA586993 - JP 2018138019-A/158919: Polycomb-Associated Non-Coding RNAs.
MA586994 - JP 2018138019-A/158920: Polycomb-Associated Non-Coding RNAs.
MA586995 - JP 2018138019-A/158921: Polycomb-Associated Non-Coding RNAs.
MA586996 - JP 2018138019-A/158922: Polycomb-Associated Non-Coding RNAs.
MA586997 - JP 2018138019-A/158923: Polycomb-Associated Non-Coding RNAs.
MA586998 - JP 2018138019-A/158924: Polycomb-Associated Non-Coding RNAs.
MA586999 - JP 2018138019-A/158925: Polycomb-Associated Non-Coding RNAs.
MA587000 - JP 2018138019-A/158926: Polycomb-Associated Non-Coding RNAs.
MA587001 - JP 2018138019-A/158927: Polycomb-Associated Non-Coding RNAs.
MA587002 - JP 2018138019-A/158928: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: FSA, K1109_HUMAN, KIAA1371, NM_015312, NP_056127, Q2LD37, Q4W598, Q5CZA9, Q6ZS70, Q6ZV75, Q86XA5, Q8WVD8, Q9H742, Q9NT48, Q9NTC3, Q9NTI4, Q9P2H6, Q9UPP3
UCSC ID: uc003ieh.3
RefSeq Accession: NM_015312
Protein: Q2LD37 (aka K1109_HUMAN)
CCDS: CCDS43267.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015312.3
exon count: 84CDS single in 3' UTR: no RNA size: 15592
ORF size: 15018CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 30208.50frame shift in genome: no % Coverage: 99.89
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.