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Aliases for KIAA1109 Gene

Aliases for KIAA1109 Gene

  • KIAA1109 2 3
  • Fragile Site-Associated Protein 3 4
  • FSA 3 4
  • Uncharacterized Protein KIAA1109 3
  • Fragile Site-Associated 2
  • KIAA1371 4
  • Tweek 3

External Ids for KIAA1109 Gene

Previous GeneCards Identifiers for KIAA1109 Gene

  • GC04P124135
  • GC04P123447
  • GC04P123564
  • GC04P123630
  • GC04P123528
  • GC04P123431
  • GC04P123311
  • GC04P123073
  • GC04P118818

Summaries for KIAA1109 Gene

Entrez Gene Summary 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 Alkuraya-Kucinskas Syndrome and Connective Tissue Cancer.

Gene Wiki entry for KIAA1109 Gene

Additional gene information for KIAA1109 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1109 Gene

Genomics for KIAA1109 Gene

GeneHancer (GH) Regulatory Elements for KIAA1109 Gene

Promoters and enhancers for KIAA1109 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I122150 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 571.5 -0.3 -330 3.7 HDGF PKNOX1 ATF1 SMAD1 ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B KIAA1109 ENSG00000273007 BBS7 IL2 IL21 RN7SL335P
GH04I122170 Promoter 0.5 EPDnew 550.4 +18.3 18264 0.1 KIAA1109 TRPC3 GC04P122268
GH04I122731 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.3 +580.9 580870 2.9 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 POLR2B ZNF143 FOS CETN4P BBS12 EXOSC9 SPATA5 KIAA1109 BBS7 ENSG00000273007 TRPC3 LOC727709
GH04I122117 Enhancer 0.4 ENCODE 13 -34.4 -34402 0.2 FOSL1 ZNF512 KIAA1109 RN7SL335P
GH04I122860 Enhancer 0.3 dbSUPER 15.8 +710.4 710445 3.7 ZNF585B KIAA1109 BBS7 FGF2 NUDT6 ENSG00000273007 RPS26P23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KIAA1109 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIAA1109 gene promoter:

Genomic Locations for KIAA1109 Gene

Genomic Locations for KIAA1109 Gene
210,427 bases
Plus strand

Genomic View for KIAA1109 Gene

Genes around KIAA1109 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1109 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1109 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1109 Gene

Proteins for KIAA1109 Gene

  • Protein details for KIAA1109 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein KIAA1109
    Protein Accession:
    Secondary Accessions:
    • Q4W598
    • Q5CZA9
    • Q6ZS70
    • Q6ZV75
    • Q86XA5
    • Q8WVD8
    • Q9H742
    • Q9NT48
    • Q9NTC3
    • Q9NTI4
    • Q9P2H6
    • Q9UPP3

    Protein attributes for KIAA1109 Gene

    5005 amino acids
    Molecular mass:
    555482 Da
    Quaternary structure:
    No Data Available
    • KIAA1109 is mapped in the genomic region associated with susceptibility to celiac disease (CELIAC6).
    • 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};

    Alternative splice isoforms for KIAA1109 Gene

neXtProt entry for KIAA1109 Gene

Post-translational modifications for KIAA1109 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KIAA1109 Gene

Domains & Families for KIAA1109 Gene

Gene Families for KIAA1109 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KIAA1109 Gene

Suggested Antigen Peptide Sequences for KIAA1109 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA1109: view

No data available for UniProtKB/Swiss-Prot for KIAA1109 Gene

Function for KIAA1109 Gene

Phenotypes From GWAS Catalog for KIAA1109 Gene

Gene Ontology (GO) - Molecular Function for KIAA1109 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20195357
genes like me logo Genes that share ontologies with KIAA1109: view
genes like me logo Genes that share phenotypes with KIAA1109: view

Animal Models for KIAA1109 Gene

MGI Knock Outs for KIAA1109:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIAA1109 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIAA1109 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 17190194
GO:0016020 membrane NAS 16632497
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIAA1109: view

Pathways & Interactions for KIAA1109 Gene

SuperPathways for KIAA1109 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA1109 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth NAS 17190194
GO:0030856 regulation of epithelial cell differentiation NAS 17190194
genes like me logo Genes that share ontologies with KIAA1109: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA1109 Gene

Drugs & Compounds for KIAA1109 Gene

No Compound Related Data Available

Transcripts for KIAA1109 Gene

Unigene Clusters for KIAA1109 Gene

Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1109 Gene

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: -

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: - - - -
SP5: - -

ExUns: 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46a · 46b ^ 47 ^ 48 ^ 49 ^ 50a · 50b ^ 51 ^ 52 ^ 53

Relevant External Links for KIAA1109 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIAA1109 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA1109 Gene

Protein differential expression in normal tissues from HIPED 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, MaxQB, and MOPED for KIAA1109 Gene

NURSA nuclear receptor signaling pathways regulating expression of KIAA1109 Gene:


SOURCE GeneReport for Unigene cluster for KIAA1109 Gene:


mRNA Expression by UniProt/SwissProt for KIAA1109 Gene:

Tissue specificity: Highly expressed in testis and ovary. Weakly or not expressed in other tissues.

Evidence on tissue expression from TISSUES for KIAA1109 Gene

  • Nervous system(4.8)
  • Blood(4.4)
  • Intestine(4.4)
  • Skin(4.4)
  • Liver(4.3)
  • Lung(2.5)
  • Spleen(2.3)
genes like me logo Genes that share expression patterns with KIAA1109: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA1109 Gene

Orthologs for KIAA1109 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KIAA1109 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KIAA1109 33 34
  • 99.71 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 95 (a)
-- 34
  • 90 (a)
-- 34
  • 89 (a)
(Canis familiaris)
Mammalia KIAA1109 33 34
  • 94.27 (n)
(Bos Taurus)
Mammalia KIAA1109 33
  • 93.88 (n)
(Monodelphis domestica)
Mammalia KIAA1109 34
  • 92 (a)
(Mus musculus)
Mammalia 4932438A13Rik 33 16 34
  • 90.66 (n)
(Gallus gallus)
Aves KIAA1109 33 34
  • 81.76 (n)
(Anolis carolinensis)
Reptilia KIAA1109 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100037856 33
  • 77.58 (n)
Str.90 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.12375 33
(Danio rerio)
Actinopterygii si:ch211-233a24.2 33 34
  • 68.77 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9215 33
fruit fly
(Drosophila melanogaster)
Insecta tweek 33 34
  • 48.85 (n)
CG4841 35
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007960 33
  • 47.06 (n)
(Caenorhabditis elegans)
Secernentea Y47G6A.29 34
  • 23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CSF1 34
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5084 34
  • 38 (a)
-- 34
  • 37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11982 33
Species where no ortholog for KIAA1109 was found in the sources mined by GeneCards:
  • 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)

Evolution for KIAA1109 Gene

Gene Tree for KIAA1109 (if available)
Gene Tree for KIAA1109 (if available)

Paralogs for KIAA1109 Gene

No data available for Paralogs for KIAA1109 Gene

Variants for KIAA1109 Gene

Sequence variations from dbSNP and Humsavar for KIAA1109 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1051597475 pathogenic, ALKURAYA-KUCINSKAS SYNDROME 122,226,815(+) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs730882245 likely-pathogenic, pathogenic, Dandy-Walker malformation, Flexed deformity, Hydrocephalus, Micrognathia, Pleural effusion, Talipes equinovarus, ALKURAYA-KUCINSKAS SYNDROME 122,207,168(+) T/A coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained, upstream_transcript_variant
rs770791100 pathogenic, ALKURAYA-KUCINSKAS SYNDROME 122,239,668(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs775516790 pathogenic, ALKURAYA-KUCINSKAS SYNDROME 122,238,125(+) AAAA/AAA coding_sequence_variant, frameshift, non_coding_transcript_variant
rs886041465 pathogenic, not provided 122,192,324(+) A/AA coding_sequence_variant, frameshift, genic_upstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA1109 Gene

Variant ID Type Subtype PubMed ID
dgv5380n100 CNV gain 25217958
esv3602018 CNV gain 21293372
esv3602022 CNV gain 21293372
esv3894021 CNV loss 25118596
nsv4496 CNV insertion 18451855
nsv830045 CNV loss 17160897
nsv997539 CNV gain 25217958

Variation tolerance for KIAA1109 Gene

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)

Additional Variant Information for KIAA1109 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1109 Gene

Disorders for KIAA1109 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KIAA1109 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alkuraya-kucinskas syndrome
  • alkkucs
connective tissue cancer
  • connective tissue neoplasm
posterior uveitis
  • uveitis, posterior
dentin caries
  • compound dental caries
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIAA1109

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KIAA1109: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA1109 Gene

Publications for KIAA1109 Gene

  1. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. (PMID: 17558408) van Heel DA … Wijmenga C (Nature genetics 2007) 3 4 44 58
  2. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. (PMID: 29290337) Gueneau L … Reymond A (American journal of human genetics 2018) 2 3 58
  3. Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance. (PMID: 20553587) Hollis-Moffatt JE … Merriman TR (Arthritis research & therapy 2010) 3 44 58
  4. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PMID: 20453842) Stahl EA … Plenge RM (Nature genetics 2010) 3 44 58
  5. Disease activity, ANCA, and IL23R genotype status determine early response to infliximab in patients with ulcerative colitis. (PMID: 20197757) Jürgens M … Brand S (The American journal of gastroenterology 2010) 3 44 58

Products for KIAA1109 Gene

Sources for KIAA1109 Gene

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