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
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
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
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: 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 ]
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 ]
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 ]
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MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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, Q9UPP3UCSC ID: uc003ieh.3RefSeq 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:
84 CDS single in 3' UTR:
no
RNA size:
15592
ORF size:
15018 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
30208.50 frame 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
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.