Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KIAA1109 Gene

Aliases for KIAA1109 Gene

  • KIAA1109 2 3
  • Fragile Site-Associated Protein 3 4
  • FSA 3 4
  • 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 Celiac Disease and Posterior Uveitis.

Gene Wiki entry for KIAA1109 Gene

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

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:
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:
    Uncharacterized 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=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

Proteomics data for KIAA1109 Gene at MOPED

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

Protein Domains for KIAA1109 Gene

InterPro:
ProtoNet:

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 Gene Families and UniProtKB/Swiss-Prot for KIAA1109 Gene

Function for KIAA1109 Gene

Phenotypes for KIAA1109 Gene

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

Animal Model Products

CRISPR 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA1109 Gene COMPARTMENTS Subcellular localization image for KIAA1109 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KIAA1109 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
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

(19) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KIAA1109 Gene

KIAA1109:
Representative Sequences:

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
ECgene alternative splicing isoforms for
KIAA1109

Expression for KIAA1109 Gene

mRNA expression in normal human tissues 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, 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.
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 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.

Orthologs for KIAA1109 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIAA1109 35
  • 93.88 (n)
  • 97.08 (a)
dog
(Canis familiaris)
Mammalia KIAA1109 35
  • 94.27 (n)
  • 98.14 (a)
KIAA1109 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4932438A13Rik 35
  • 90.66 (n)
  • 96.65 (a)
4932438A13Rik 16
4932438A13Rik 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA1109 35
  • 99.71 (n)
  • 99.8 (a)
KIAA1109 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1109 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
chicken
(Gallus gallus)
Aves KIAA1109 35
  • 81.76 (n)
  • 90.9 (a)
KIAA1109 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1109 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100037856 35
  • 77.58 (n)
  • 89.18 (a)
Str.90 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.12375 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
si:ch211-233a24.2 35
  • 68.77 (n)
  • 76.5 (a)
si:ch211-233a24.2 36
  • 75 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9215 35
fruit fly
(Drosophila melanogaster)
Insecta CG4841 37
  • 33 (a)
tweek 35
  • 48.85 (n)
  • 41.63 (a)
tweek 36
  • 31 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007960 35
  • 47.06 (n)
  • 40.45 (a)
worm
(Caenorhabditis elegans)
Secernentea Y47G6A.29 36
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CSF1 36
  • 18 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11982 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
CSA.5084 36
  • 38 (a)
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)

Evolution for KIAA1109 Gene

ENSEMBL:
Gene Tree for KIAA1109 (if available)
TreeFam:
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 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

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

Variant ID Type Subtype PubMed ID
nsv830045 CNV Loss 17160897
nsv4496 CNV Insertion 18451855

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)

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

MalaCards: The human disease database

(5) MalaCards diseases for KIAA1109 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
celiac disease
  • celiac sprue
posterior uveitis
  • uveitis, posterior
connective tissue cancer
  • connective tissue neoplasm
dentin caries
  • compound dental caries
borderline leprosy
  • borderline leprosy [group b]
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIAA1109

Genetic Association Database (GAD)
KIAA1109
Human Genome Epidemiology (HuGE) Navigator
KIAA1109
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA1109
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 D.A. … Wijmenga C. (Nat. Genet. 2007) 3 4 48 67
  2. 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
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. 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
  5. 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

Sources for KIAA1109 Gene

Content