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,... See more...

Aliases for KIAA1109 Gene

Aliases for KIAA1109 Gene

  • KIAA1109 2 3
  • Fragile Site-Associated Protein 3 4
  • Transmembrane Protein KIAA1109 3 4
  • FSA 3 4
  • Fragile Site-Associated 2
  • KIAA1371 4
  • ALKKUCS 3
  • 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 Dandy-Walker Syndrome.

Gene Wiki entry for KIAA1109 Gene

Additional gene information for KIAA1109 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J122150 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 521.4 -0.3 -268 3.9 EP300 SIN3A NRF1 POLR2G SP1 PHF8 TEAD4 ZFX ZIC2 POLR2A KIAA1109 lnc-KIAA1109-1 lnc-TRPC3-4 ENSG00000273007 BBS7 IL2 IL21 piR-34822-252
GH04J122239 Promoter 0.3 EPDnew 500.2 +87.6 87622 0.1 KIAA1109 lnc-ADAD1-3 piR-43103-045
GH04J122339 Promoter 0.3 EPDnew 500.1 +186.9 186898 0.1 KIAA1109 RF00017-4401 lnc-ADAD1-3
GH04J122117 Enhancer 0.9 Ensembl ENCODE 13 -34.8 -34832 1.8 PHB2 ZBTB11 HES1 HDAC3 NCOR1 NFIC TRIM24 FOSL1 TAL1 STAT5A KIAA1109 piR-34822-252 lnc-TRPC3-4
GH04J122045 Enhancer 0.9 Ensembl ENCODE 10.2 -106.7 -106732 1.2 RBAK ZNF639 ZNF510 ZEB1 WT1 ZNF316 NFIC ZNF184 FOS NR3C1 TRPC3 ENSG00000273007 KIAA1109 HSALNG0036836 lnc-KIAA1109-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA1109 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA1109

Top Transcription factor binding sites by QIAGEN in the KIAA1109 gene promoter:
  • Bach2
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • MRF-2
  • POU2F1
  • POU2F1a
  • S8
  • TBP
  • TFIID

Genomic Locations for KIAA1109 Gene

Genomic Locations for KIAA1109 Gene
chr4:122,152,333-122,362,759
(GRCh38/hg38)
Size:
210,427 bases
Orientation:
Plus strand
chr4:123,073,488-123,283,914
(GRCh37/hg19)
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:
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:
    Q2LD37-K1109_HUMAN
    Recommended name:
    Transmembrane protein KIAA1109
    Protein Accession:
    Q2LD37
    Secondary Accessions:
    • 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH45783.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAI08275.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAB15057.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC85988.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA1109 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ45798 fis, clone NT2RI2015533 (B3KXP0_HUMAN)
  • Fragile site-associated protein (K1109_HUMAN)
genes like me logo Genes that share domains with KIAA1109: view

No data available for Graphical View of Domain Structure and 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

Human Phenotype Ontology for KIAA1109 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIAA1109 Gene

MGI Knock Outs for KIAA1109:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA1109

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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 3
plasma membrane 2
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 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 --
GO:0098793 presynapse IEA --
genes like me logo Genes that share ontologies with KIAA1109: view

Pathways & Interactions for KIAA1109 Gene

PathCards logo

SuperPathways for KIAA1109 Gene

No Data Available

Interacting Proteins for KIAA1109 Gene

;

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
GO:0048488 synaptic vesicle endocytosis IBA 21873635
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

mRNA/cDNA for KIAA1109 Gene

2 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA1109

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: -
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:

Relevant External Links for KIAA1109 Gene

GeneLoc Exon Structure for
KIAA1109

Expression for KIAA1109 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for KIAA1109 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIAA1109

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.

Evidence on tissue expression from TISSUES for KIAA1109 Gene

  • Nervous system(4.9)
  • 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
chimpanzee
(Pan troglodytes)
Mammalia KIAA1109 31 30
  • 99.71 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 95 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
-- 31
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia KIAA1109 31 30
  • 94.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1109 30
  • 93.88 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1109 31
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4932438A13Rik 17 31 30
  • 90.66 (n)
chicken
(Gallus gallus)
Aves KIAA1109 31 30
  • 81.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1109 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100037856 30
  • 77.58 (n)
Str.90 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12375 30
zebrafish
(Danio rerio)
Actinopterygii si:ch211-233a24.2 31 30
  • 68.77 (n)
OneToOne
-- 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9215 30
fruit fly
(Drosophila melanogaster)
Insecta tweek 31 30
  • 48.85 (n)
OneToOne
CG4841 32
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007960 30
  • 47.06 (n)
worm
(Caenorhabditis elegans)
Secernentea Y47G6A.29 31
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CSF1 31
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5084 31
  • 38 (a)
OneToMany
-- 31
  • 37 (a)
OneToMany
Cin.11982 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11982 30
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

ENSEMBL:
Gene Tree for KIAA1109 (if available)
TreeFam:
Gene Tree for KIAA1109 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA1109: view image

Paralogs for KIAA1109 Gene

No data available for Paralogs for KIAA1109 Gene

Variants for KIAA1109 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA1109 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
691435 Uncertain Significance: Pyloric stenosis; Esophageal atresia 122,347,524(+) T/A MISSENSE_VARIANT
692318 Likely Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita 122,239,608(+) G/A MISSENSE_VARIANT
692319 Likely Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita 122,336,233(+) T/C MISSENSE_VARIANT
716370 Benign: not provided 122,324,474(+) C/T SYNONYMOUS_VARIANT
718050 Benign: not provided 122,254,890(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for KIAA1109 Gene

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)
KIAA1109
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA1109

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

Disorders for KIAA1109 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

K1109_HUMAN
  • Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822]: An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features. {ECO:0000269 PubMed:25558065, ECO:0000269 PubMed:29290337}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KIAA1109

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

No data available for Genatlas for KIAA1109 Gene

Publications for KIAA1109 Gene

  1. 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 4 54
  2. 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 41 54
  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 41 54
  4. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PMID: 20453842) Stahl EA … Plenge RM (Nature genetics 2010) 3 41 54
  5. Multiple common variants for celiac disease influencing immune gene expression. (PMID: 20190752) Dubois PC … van Heel DA (Nature genetics 2010) 3 41 54

Products for KIAA1109 Gene

Sources for KIAA1109 Gene