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Aliases for KIAA1468 Gene

Aliases for KIAA1468 Gene

  • KIAA1468 2 3
  • EC 2.4.2.18 63
  • EC 5.3.1.24 63
  • 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for KIAA1468 Gene at MOPED

Selected DME Specific Peptides for KIAA1468 Gene

Post-translational modifications for KIAA1468 Gene

  • Ubiquitination at Lys 877
  • Modification sites at PhosphoSitePlus

Other Protein References for KIAA1468 Gene

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

Gene Ontology (GO) - Molecular Function for KIAA1468 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with KIAA1468: view
genes like me logo Genes that share phenotypes with KIAA1468: view

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KIAA1468

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA1468 Gene

Localization for KIAA1468 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA1468 Gene COMPARTMENTS Subcellular localization image for KIAA1468 gene
Compartment Confidence
cytosol 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KIAA1468 Gene

Pathways & Interactions for KIAA1468 Gene

SuperPathways for KIAA1468 Gene

No Data Available

Interacting Proteins for KIAA1468 Gene

Gene Ontology (GO) - Biological Process for KIAA1468 Gene

None

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

Drugs & Compounds for KIAA1468 Gene

No Compound Related Data Available

Transcripts for KIAA1468 Gene

Unigene Clusters for KIAA1468 Gene

KIAA1468:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KIAA1468

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 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, MOPED, and MaxQB for KIAA1468 Gene



SOURCE GeneReport for Unigene cluster for KIAA1468 Gene Hs.465323

genes like me logo Genes that share expression patterns with KIAA1468: view

Protein tissue co-expression partners for KIAA1468 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia KIAA1468 35
  • 90.02 (n)
  • 93.32 (a)
KIAA1468 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1468 35
  • 92.82 (n)
  • 95.13 (a)
KIAA1468 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2310035C23Rik 35
  • 89.99 (n)
  • 93.26 (a)
2310035C23Rik 16
2310035C23Rik 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA1468 35
  • 99.67 (n)
  • 99.84 (a)
KIAA1468 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1307235 35
  • 89.78 (n)
  • 92.85 (a)
oppossum
(Monodelphis domestica)
Mammalia KIAA1468 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1468 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1468 35
  • 81.54 (n)
  • 86.97 (a)
KIAA1468 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1468 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1468 35
  • 75.16 (n)
  • 83.19 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc66014 35
zgc:66014 35
  • 69.62 (n)
  • 78.23 (a)
zgc:66014 36
  • 76 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G16210 35
  • 45.19 (n)
  • 33.8 (a)
rice
(Oryza sativa)
Liliopsida Os01g0514300 35
  • 45.05 (n)
  • 33.59 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for KIAA1468:
  • 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 MAF
rs14745 -- 62,306,940(-) GCTTT(G/T)CCTAT utr-variant-3-prime, nc-transcript-variant
rs962833 -- 62,202,096(-) ATAAT(C/G)AGGTA intron-variant
rs962834 -- 62,201,887(-) GAAAA(C/G/T)TACAT intron-variant
rs965052 -- 62,233,265(-) ATAAA(A/T)TTTTT intron-variant, upstream-variant-2KB
rs974147 -- 62,257,235(+) GCCAT(G/T)AAGCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2676512 CNV Deletion 23128226
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

HapMap Linkage Disequilibrium report
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

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. 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67
  4. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PMID: 23383273) Yu C.C. … Chow L.P. (PLoS ONE 2013) 67
  5. A high-throughput approach for measuring temporal changes in the interactome. (PMID: 22863883) Kristensen A.R. … Foster L.J. (Nat. Methods 2012) 67

Products for KIAA1468 Gene

Sources for KIAA1468 Gene

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