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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 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

Genomic Location for KIAA1109 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 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

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

Phenotypes for KIAA1109 Gene

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

Animal Model Products

CRISPR Products

miRNA for KIAA1109 Gene

miRTarBase miRNAs that target KIAA1109

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 4
cytoskeleton 1
plasma membrane 1

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 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:0009235 cobalamin metabolic process --
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 for KIAA1109 Gene

Transcripts for KIAA1109 Gene

mRNA/cDNA for KIAA1109 Gene

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

Unigene Clusters for KIAA1109 Gene

KIAA1109:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KIAA1109

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KIAA1109
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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: -
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

Integrated Proteomics: protein expression 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 expressions with KIAA1109: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.71 (n)
  • 99.8 (a)
KIAA1109 36
  • 100 (a)
OneToOne
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
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.12375 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100037856 35
  • 77.58 (n)
  • 89.18 (a)
Str.90 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9215 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
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007960 35
  • 47.06 (n)
  • 40.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta tweek 35
  • 48.85 (n)
  • 41.63 (a)
tweek 36
  • 31 (a)
OneToOne
CG4841 37
  • 33 (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 MAF
rs16461 -- 122,187,374(+) GAACT(A/G)TGTCC intron-variant
rs931128 -- 122,339,613(+) TTTCT(A/G)TTTTT intron-variant
rs1021009 -- 122,355,581(+) tataa(A/T)tatat intron-variant
rs1127348 -- 122,359,705(+) TGGCA(C/T)CTAGA synonymous-codon, reference
rs1600509 -- 122,303,510(-) tatga(A/C)aactg intron-variant

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

Relevant External Links for KIAA1109 Gene

HapMap Linkage Disequilibrium report
KIAA1109
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

MalaCards: The human disease database. (2) Diseases for KIAA1109 Gene including...

Search for KIAA1109 Gene in MalaCards »

Relevant External Links for KIAA1109

Genetic Association Database (GAD)
KIAA1109
Human Genome Epidemiology (HuGE) Navigator
KIAA1109
genes like me logo Genes that share disorders with KIAA1109: view

No data available for UniProtKB/Swiss-Prot 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
  2. Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. (PMID: 17999365) Zhernakova A. … Wijmenga C. (Am. J. Hum. Genet. 2007) 3 48
  3. Newly identified genetic risk variants for celiac disease related to the immune response. (PMID: 18311140) Hunt K.A. … van Heel D.A. (Nat. Genet. 2008) 3 48
  4. Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study. (PMID: 19302705) Teixeira V.H. … Petit-Teixeira E. (Arthritis Res. Ther. 2009) 3 48
  5. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. (PMID: 19430480) Barrett J.C. … Rich S.S. (Nat. Genet. 2009) 3 48

Products for KIAA1109 Gene

Sources for KIAA1109 Gene

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