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Aliases for KIAA1468 Gene

Aliases for KIAA1468 Gene

  • KIAA1468 2 3
  • LisH Domain And HEAT Repeat-Containing Protein KIAA1468 3
  • EC 2.4.2.18 61
  • EC 5.3.1.24 61
  • HsT3308 3
  • HsT885 3

External Ids for KIAA1468 Gene

Previous GeneCards Identifiers for KIAA1468 Gene

  • GC18P059726
  • GC18P059861
  • GC18P058037
  • GC18P058005
  • GC18P056565

Summaries for KIAA1468 Gene

GeneCards Summary for KIAA1468 Gene

KIAA1468 (KIAA1468) is a Protein Coding gene. Diseases associated with KIAA1468 include Chronic Recurrent Multifocal Osteomyelitis. GO annotations related to this gene include binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1468 Gene

Genomics for KIAA1468 Gene

Regulatory Elements for KIAA1468 Gene

Enhancers for KIAA1468 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F062324 1.5 FANTOM5 Ensembl ENCODE 11.6 +141.6 141596 8.6 PKNOX1 ZNF133 FEZF1 ZNF48 GLIS2 KLF7 ZNF202 ZNF263 REST TBX21 PIGN TNFRSF11A KIAA1468 ENSG00000267560 ZCCHC2 ENSG00000199867
GH18F062185 1.1 ENCODE 15.2 +0.1 81 3.2 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS SP3 PIGN KIAA1468 ENSG00000267560 ENSG00000266900 TNFRSF11A
GH18F062521 1.6 FANTOM5 ENCODE 10.1 +337.6 337623 7.1 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZCCHC2 KIAA1468 LOC100422317 PHLPP1 TNFRSF11A ENSG00000278017
GH18F062249 0.6 ENCODE 26.9 +62.4 62449 0.2 CTCF ZNF654 ZNF384 ZNF501 RAD21 SMC3 HNF4G PRDM1 KIAA1468 PIGN ENSG00000266900 ENSG00000267560
GH18F061947 1.4 FANTOM5 Ensembl ENCODE 9.8 -236.3 -236296 6.1 PKNOX1 TBL1XR1 JUN BMI1 EBF1 RELA POLR2A CBX5 EED ETV6 PIGN KIAA1468 RPIAP1 LOC105372159
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIAA1468 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA1468 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001036866 556 4401 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS SP3

Genomic Location for KIAA1468 Gene

Chromosome:
18
Start:
62,187,244 bp from pter
End:
62,307,829 bp from pter
Size:
120,586 bases
Orientation:
Plus strand

Genomic View for KIAA1468 Gene

Genes around KIAA1468 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1468 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1468 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1468 Gene

Proteins for KIAA1468 Gene

  • Protein details for KIAA1468 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P260-K1468_HUMAN
    Recommended name:
    LisH domain and HEAT repeat-containing protein KIAA1468
    Protein Accession:
    Q9P260

    Protein attributes for KIAA1468 Gene

    Size:
    1216 amino acids
    Molecular mass:
    134630 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KIAA1468 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1468 Gene

Selected DME Specific Peptides for KIAA1468 Gene

Q9P260:
  • VGPTRVE
  • VDVASGVE

Post-translational modifications for KIAA1468 Gene

  • Ubiquitination at Lys 877
  • Modification sites at PhosphoSitePlus

Domains & Families for KIAA1468 Gene

Protein Domains for KIAA1468 Gene

Suggested Antigen Peptide Sequences for KIAA1468 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P260

UniProtKB/Swiss-Prot:

K1468_HUMAN :
  • Contains 1 LisH domain.
  • Contains 3 HEAT repeats.
Domain:
  • Contains 1 LisH domain.
Similarity:
  • Contains 3 HEAT repeats.
genes like me logo Genes that share domains with KIAA1468: view

No data available for Gene Families for KIAA1468 Gene

Function for KIAA1468 Gene

Enzyme Numbers (IUBMB) for KIAA1468 Gene

genes like me logo Genes that share phenotypes with KIAA1468: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA1468 Gene

Localization for KIAA1468 Gene

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 KIAA1468 gene
Compartment Confidence
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for KIAA1468 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 KIAA1468: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KIAA1468 Gene

Pathways & Interactions for KIAA1468 Gene

SuperPathways for KIAA1468 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA1468 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA1468 Gene

Transcripts for KIAA1468 Gene

Unigene Clusters for KIAA1468 Gene

KIAA1468:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1468 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
SP1: - -
SP2: -
SP3: - - -
SP4:

ExUns: 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1: - -
SP2: - -
SP3:
SP4:

Relevant External Links for KIAA1468 Gene

GeneLoc Exon Structure for
KIAA1468
ECgene alternative splicing isoforms for
KIAA1468

Expression for KIAA1468 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIAA1468 Gene

Protein differential expression in normal tissues from HIPED for KIAA1468 Gene

This gene is overexpressed in Bone (20.3) and Brain (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIAA1468 Gene



Protein tissue co-expression partners for KIAA1468 Gene

NURSA nuclear receptor signaling pathways regulating expression of KIAA1468 Gene:

KIAA1468

SOURCE GeneReport for Unigene cluster for KIAA1468 Gene:

Hs.465323
genes like me logo Genes that share expression patterns with KIAA1468: 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 mRNA Expression by UniProt/SwissProt for KIAA1468 Gene

Orthologs for KIAA1468 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KIAA1468 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1468 34 35
  • 99.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1468 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1468 34 35
  • 92.82 (n)
cow
(Bos Taurus)
Mammalia KIAA1468 34 35
  • 90.02 (n)
mouse
(Mus musculus)
Mammalia 2310035C23Rik 34 16 35
  • 89.99 (n)
rat
(Rattus norvegicus)
Mammalia RGD1307235 34
  • 89.78 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1468 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1468 34 35
  • 81.54 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA1468 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1468 34
  • 75.16 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:66014 34 35
  • 69.62 (n)
zgc66014 34
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G16210 34
  • 45.19 (n)
rice
(Oryza sativa)
Liliopsida Os01g0514300 34
  • 45.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for KIAA1468 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIAA1468 Gene

ENSEMBL:
Gene Tree for KIAA1468 (if available)
TreeFam:
Gene Tree for KIAA1468 (if available)

Paralogs for KIAA1468 Gene

Pseudogenes.org Pseudogenes for KIAA1468 Gene

genes like me logo Genes that share paralogs with KIAA1468: view

No data available for Paralogs for KIAA1468 Gene

Variants for KIAA1468 Gene

Sequence variations from dbSNP and Humsavar for KIAA1468 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs770815767 A colorectal cancer sample 62,274,005(+) AGTTG(A/G/T)ATTCT nc-transcript-variant, reference, missense
rs386352321 Uncertain significance 62,252,665(+) TCAGG(A/C)AAATG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1027780 -- 62,220,603(-) AAAAA(A/G)AAAAA intron-variant
rs10439025 -- 62,185,499(+) GGGTA(A/T)ATTGA intron-variant, upstream-variant-2KB
rs1045941 -- 62,305,639(+) TTCTT(G/T)CATTA nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KIAA1468 Gene

Variant ID Type Subtype PubMed ID
esv2676512 CNV deletion 23128226
esv3642747 CNV loss 21293372
esv3642748 CNV loss 21293372
nsv1055910 CNV gain 25217958
nsv1055978 CNV loss 25217958
nsv1056589 CNV loss 25217958
nsv1142241 CNV tandem duplication 24896259
nsv577085 CNV loss 21841781
nsv819755 CNV loss 19587683

Variation tolerance for KIAA1468 Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA1468 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA1468

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1468 Gene

Disorders for KIAA1468 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIAA1468 Gene - From: GeneCards

Disorder Aliases PubMed IDs
chronic recurrent multifocal osteomyelitis
  • chronic multifocal osteomyelitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIAA1468

Genetic Association Database (GAD)
KIAA1468
Human Genome Epidemiology (HuGE) Navigator
KIAA1468
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA1468
genes like me logo Genes that share disorders with KIAA1468: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA1468 Gene

Publications for KIAA1468 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. (PMID: 11973628) Golla A. … Meindl A. (Eur. J. Hum. Genet. 2002) 2 3 64
  3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64

Products for KIAA1468 Gene

Sources for KIAA1468 Gene

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