Aliases for KIAA1109 Gene
Aliases for KIAA1109 Gene
External Ids for KIAA1109 Gene
- HGNC: 26953
- Entrez Gene: 84162
- Ensembl: ENSG00000138688
- OMIM: 611565
- UniProtKB: Q2LD37
Previous GeneCards Identifiers for KIAA1109 Gene
- GC04P124135
- GC04P123447
- GC04P123564
- GC04P123630
- GC04P123528
- GC04P123431
- GC04P123311
- GC04P123073
- GC04P118818
Summaries for KIAA1109 Gene
-
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]
GeneCards Summary for KIAA1109 Gene
KIAA1109 (KIAA1109) is a Protein Coding gene. Diseases associated with KIAA1109 include Celiac Disease and Posterior Uveitis.
No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1109 Gene
Genomics for KIAA1109 Gene
Regulatory Elements for KIAA1109 Gene
Enhancers for KIAA1109 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around KIAA1109 on UCSC Golden Path with GeneCards custom track
Promoters for KIAA1109 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around KIAA1109 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the KIAA1109 gene promoter:
Regulatory Element Products
Genomic Location for KIAA1109 Gene
- Chromosome:
- 4
- Start:
- 122,152,333 bp from pter
- End:
- 122,362,759 bp from pter
- Size:
- 210,427 bases
- Orientation:
- Plus strand
Genomic View for KIAA1109 Gene
Genes around KIAA1109 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q27 by Ensembl
- 4q27 by Entrez Gene
- 4q28.1 by HGNC
KIAA1109 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KIAA1109 Gene
Proteins for KIAA1109 Gene
-
Protein details for KIAA1109 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q2LD37-K1109_HUMAN
- Recommended name:
- Uncharacterized protein KIAA1109
- Protein Accession:
- Q2LD37
- Q4W598
- Q5CZA9
- Q6ZS70
- Q6ZV75
- Q86XA5
- Q8WVD8
- Q9H742
- Q9NT48
- Q9NTC3
- Q9NTI4
- Q9P2H6
- Q9UPP3
Protein attributes for KIAA1109 Gene
- Size:
- 5005 amino acids
- Molecular mass:
- 555482 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- KIAA1109 is mapped in the genomic region associated with susceptibility to celiac disease (CELIAC6).
- SequenceCaution:
-
- Sequence=AAH18094.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH45783.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI08275.1; Type=Erroneous termination; Positions=4807; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=BAB15057.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC85988.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC87084.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
Protein Expression for KIAA1109 Gene
Post-translational modifications for KIAA1109 Gene
Other Protein References for KIAA1109 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KIAA1109
- Search GeneTex for Antibodies for KIAA1109
-
Santa Cruz Biotechnology (SCBT) Antibodies for KIAA1109
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KIAA1109
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- Search GeneTex for Proteins for KIAA1109
- Abcam proteins for KIAA1109
Assay Products
- antibodies-online Kits for KIAA1109: See all 1
No data available for DME Specific Peptides for KIAA1109 Gene
Domains & Families for KIAA1109 Gene
Protein Domains for KIAA1109 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KIAA1109 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for KIAA1109 Gene
Function for KIAA1109 Gene
Phenotypes for KIAA1109 Gene
- GenomeRNAi human phenotypes for KIAA1109:
Animal Model Products
-
Taconic Biosciences Mouse Models for KIAA1109
-
ViGene Biosciences lentiviral particle packaged cDNA for KIAA1109 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KIAA1109 gene
- Search ViGene Biosciences for KIAA1109
CRISPR Products
- Browse CRISPR knockouts for KIAA1109
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIAA1109
- GenScript: Design CRISPR guide RNA sequences for KIAA1109
miRNA for KIAA1109 Gene
- miRTarBase miRNAs that target KIAA1109
-
- hsa-mir-335-5p (MIRT018363)
- hsa-mir-615-3p (MIRT039681)
- hsa-mir-484 (MIRT041900)
- hsa-mir-25-3p (MIRT163985)
- hsa-mir-32-5p (MIRT163987)
- hsa-mir-92a-3p (MIRT163988)
- hsa-mir-219a-2-3p (MIRT163993)
- hsa-mir-363-3p (MIRT163994)
- hsa-mir-367-3p (MIRT163995)
- hsa-mir-410-3p (MIRT163998)
- hsa-mir-497-3p (MIRT163999)
- hsa-mir-92b-3p (MIRT164002)
- hsa-mir-873-5p (MIRT164004)
- hsa-mir-4528 (MIRT164012)
- hsa-mir-5589-3p (MIRT164014)
- hsa-mir-190a-3p (MIRT502158)
- hsa-mir-340-5p (MIRT502159)
- hsa-mir-4722-5p (MIRT502160)
- hsa-mir-1286 (MIRT502161)
- hsa-mir-944 (MIRT502162)
miRNA Products
- Search ViGene Biosciences for KIAA1109
Inhibitory RNA Products
- Origene shRNA and RNAi products in human, mouse, rat for KIAA1109
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-
ViGene Biosciences ready-to-package AAV shRNAs for KIAA1109 gene
Clone Products
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Cell Line Products
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ViGene Biosciences adenoviral particle packaged cDNA for KIAA1109 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for KIAA1109 gene
-
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Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA1109 Gene
Localization for KIAA1109 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KIAA1109 Gene
- Membrane; Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 2 |
| extracellular | 1 |
| plasma membrane | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for KIAA1109 Gene
More details on SuperPathways for KIAA1109
No Data Available
Interacting Proteins for KIAA1109 Gene
Selected Interacting proteins:
ENSP00000264501
Q2LD37-K1109_HUMAN
for KIAA1109 Gene via
STRING
UniProtKB
I2D
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001558 | regulation of cell growth | NAS | 17190194 |
No data available for Pathways by source and SIGNOR curated interactions for KIAA1109 Gene
Transcripts for KIAA1109 Gene
mRNA/cDNA for KIAA1109 Gene
- (19) REFSEQ mRNAs :
- (20) Additional mRNA sequences :
- (1) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
- Browse CRISPR knockouts for KIAA1109
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIAA1109
- GenScript: Design CRISPR guide RNA sequences for KIAA1109
miRNA Products
- Search ViGene Biosciences for KIAA1109
Inhibitory RNA Products
- Origene shRNA and RNAi products in human, mouse, rat for KIAA1109
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-
ViGene Biosciences ready-to-package AAV shRNAs for KIAA1109 gene
Clone Products
- OriGene clones in human for KIAA1109
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Flow Cytometry Products
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | · | 32c | ^ | 33 | ^ | 34 | ^ | 35a | · | 35b | ^ | 36a | · | 36b | ^ | 37a | · | 37b | ^ | 38a | · | 38b | ^ | 39 | ^ | 40a | · | 40b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46a | · | 46b | ^ | 47 | ^ | 48 | ^ | 49 | ^ | 50a | · | 50b | ^ | 51 | ^ | 52 | ^ | 53 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||
| SP8: |
Expression for KIAA1109 Gene
This gene is overexpressed in Heart (20.9), Urine (15.2), Cervix (8.6), Ovary (7.3), and Retina (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIAA1109 Gene
SOURCE GeneReport for Unigene cluster for KIAA1109 Gene Hs.408142
mRNA Expression by UniProt/SwissProt for KIAA1109 Gene
Q2LD37-K1109_HUMAN
Tissue specificity:
Highly expressed in testis and ovary. Weakly or not expressed in other tissues.
Primer Products
-
OriGene qPCR primer pairs for KIAA1109
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for KIAA1109 Gene
Orthologs for KIAA1109 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | KIAA1109 35 |
|
||
| dog (Canis familiaris) |
Mammalia | KIAA1109 35 |
|
||
| KIAA1109 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | 4932438A13Rik 35 |
|
||
| 4932438A13Rik 16 |
|
||||
| 4932438A13Rik 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | KIAA1109 35 |
|
||
| KIAA1109 36 |
|
OneToOne | |||
| oppossum (Monodelphis domestica) |
Mammalia | KIAA1109 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 36 |
|
OneToMany | |
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | KIAA1109 35 |
|
||
| KIAA1109 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | KIAA1109 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100037856 35 |
|
||
| Str.90 35 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.12375 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | -- 35 |
|
||
| si:ch211-233a24.2 35 |
|
||||
| si:ch211-233a24.2 36 |
|
OneToOne | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9215 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG4841 37 |
|
|
|
| tweek 35 |
|
||||
| tweek 36 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007960 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | Y47G6A.29 36 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CSF1 36 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.11982 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
OneToMany | |
| CSA.5084 36 |
|
OneToMany |
- Species with no ortholog for KIAA1109:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for KIAA1109 Gene
No data available for Paralogs for KIAA1109 Gene
Variants for KIAA1109 Gene
| SNP ID | Clin | Chr 04 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs6848868 | - | 122,229,131(+) | TTGTA(C/T)TCCTG | nc-transcript-variant, reference, missense | |
| rs2306369 | - | 122,347,704(+) | CAGGG(A/G)CAGTA | reference, missense | |
| rs10017270 | - | 122,355,846(+) | GCACT(A/G)CTGTG | reference, missense | |
| rs56363411 | - | 122,250,504(+) | TCTGA(A/T)GATAA | nc-transcript-variant, reference, missense | |
| rs45608936 | - | 122,271,085(+) | GCATC(A/C)GTGCT | nc-transcript-variant, reference, missense |
Residual Variation Intolerance Score:
0.0241% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.59;
86.16% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for KIAA1109 Gene
- Human Gene Mutation Database (HGMD)
- KIAA1109
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1109 Gene
Disorders for KIAA1109 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| celiac disease |
|
|
| posterior uveitis |
|
|
| connective tissue cancer |
|
|
| dentin caries |
|
|
| borderline leprosy |
|
|
Search KIAA1109 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for KIAA1109
No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA1109 Gene
Publications for KIAA1109 Gene
- A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. (PMID: 17558408) van Heel D.A. … Wijmenga C. (Nat. Genet. 2007) 3 4 48 67
- Association of fragile site-associated (FSA) gene expression with epithelial differentiation and tumor development. (PMID: 16386706) Kuo M.T. … Savaraj N. (Biochem. Biophys. Res. Commun. 2006) 2 3
- A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
- Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. (PMID: 24999842) Garner C. … Neuhausen S.L. (PLoS ONE 2014) 3
- Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population. (PMID: 25037274) Bouzid D. … Masmoudi H. (Mol. Biol. Rep. 2014) 3
Products for KIAA1109 Gene
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- ViGene Biosciences ready-to-package AAV shRNAs for KIAA1109 gene
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Sources for KIAA1109 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
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