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Aliases for KIAA0753 Gene

Aliases for KIAA0753 Gene

  • KIAA0753 2 3
  • OFD1 And FOPNL Interacting Protein 2 3
  • OFIP 3 4
  • MNR 3 4
  • OFD1- And FOPNL-Interacting Protein 4
  • Protein Moonraker 3
  • Moonraker 2

External Ids for KIAA0753 Gene

Previous GeneCards Identifiers for KIAA0753 Gene

  • GC17M006870
  • GC17M007212
  • GC17M006426
  • GC17M006682
  • GC17M006422

Summaries for KIAA0753 Gene

Entrez Gene Summary for KIAA0753 Gene

  • This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]

GeneCards Summary for KIAA0753 Gene

KIAA0753 (KIAA0753) is a Protein Coding gene. Diseases associated with KIAA0753 include Orofaciodigital Syndrome Vi and Anterograde Amnesia.

UniProtKB/Swiss-Prot for KIAA0753 Gene

  • Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:24613305, PubMed:26297806).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0753 Gene

Genomics for KIAA0753 Gene

Regulatory Elements for KIAA0753 Gene

Enhancers for KIAA0753 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
GH17G006574 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28.6 +66.1 66101 1.8 HDGF CBX3 TBL1XR1 ARNT NFRKB GATA2 EGR1 FOS IKZF2 CREM KIAA0753 ENSG00000261996 GC17M006460 GC17M006601 RNA5SP435
GH17G006637 1.4 FANTOM5 ENCODE 32.7 +0.7 690 6.4 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 KIAA0753 ENSG00000261996 GC17P006641
GH17G006599 0.9 Ensembl ENCODE 43.3 +42.1 42124 1.2 L3MBTL2 MAFG MAX MNT ZNF316 FOXK2 SMARCA4 IKZF1 NFE2L1 NFE2 KIAA0753 PITPNM3 TXNDC17 C17orf100 MED31 SLC13A5 GC17M006601 RNA5SP435 GC17M006460
GH17G006566 1.6 FANTOM5 Ensembl ENCODE dbSUPER 23.8 +74.1 74099 1.5 CTCF ESRRA CEBPG BCL11B ZIC2 FOSL1 ZFHX2 ZBTB48 SMC3 TRIM24 DVL2 KIAA0753 ENSG00000262089 ENSG00000261996 KCTD11 PITPNM3 TXNDC17 GC17M006460
GH17G007233 1.5 ENCODE dbSUPER 18.7 -596.9 -596937 11.3 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 DVL2 NLGN2 ELP5 SNORD10 NEURL4 ZBTB4 SNORA48 LOC100996842 SENP3 YBX2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIAA0753 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA0753 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090738 944 2401 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 DEK

Genomic Location for KIAA0753 Gene

Chromosome:
17
Start:
6,578,148 bp from pter
End:
6,641,744 bp from pter
Size:
63,597 bases
Orientation:
Minus strand

Genomic View for KIAA0753 Gene

Genes around KIAA0753 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0753 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0753 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0753 Gene

Proteins for KIAA0753 Gene

  • Protein details for KIAA0753 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2KHM9-MOONR_HUMAN
    Recommended name:
    Protein moonraker
    Protein Accession:
    Q2KHM9
    Secondary Accessions:
    • A8KA11
    • B7Z479
    • O94853
    • Q05D97
    • Q2KHN0
    • Q9UG45

    Protein attributes for KIAA0753 Gene

    Size:
    967 amino acids
    Molecular mass:
    109407 Da
    Quaternary structure:
    • Interacts with CEP63 (PubMed:24613305). Interacts with WDR62 (PubMed:26297806). Forms a complex with OFD1 and FOPNL/FOR20 (PubMed:26643951). Interacts with PCM1 (PubMed:26297806, PubMed:26643951).
    SequenceCaution:
    • Sequence=BAA34473.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA0753 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0753 Gene

Post-translational modifications for KIAA0753 Gene

  • Ubiquitination at posLast=2626
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0753 Gene

Domains & Families for KIAA0753 Gene

Protein Domains for KIAA0753 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA0753 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA0753: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KIAA0753 Gene

Function for KIAA0753 Gene

Molecular function for KIAA0753 Gene

UniProtKB/Swiss-Prot Function:
Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:24613305, PubMed:26297806).

Gene Ontology (GO) - Molecular Function for KIAA0753 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KIAA0753: view
genes like me logo Genes that share phenotypes with KIAA0753: view

Animal Models for KIAA0753 Gene

MGI Knock Outs for KIAA0753:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for KIAA0753 Gene

Localization for KIAA0753 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0753 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localization to centrioles and pericentriolar satellites may be mediated by interaction with PCM1. {ECO:0000269 PubMed:26643951}.

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 KIAA0753 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4

Gene Ontology (GO) - Cellular Components for KIAA0753 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with KIAA0753: view

Pathways & Interactions for KIAA0753 Gene

SuperPathways for KIAA0753 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA0753 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007099 centriole replication IEA --
GO:0071539 protein localization to centrosome IMP 26297806
genes like me logo Genes that share ontologies with KIAA0753: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA0753 Gene

Drugs & Compounds for KIAA0753 Gene

No Compound Related Data Available

Transcripts for KIAA0753 Gene

Unigene Clusters for KIAA0753 Gene

KIAA0753:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0753 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^
SP1: - - -
SP2: -
SP3:
SP4: - -
SP5:

ExUns: 22
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for KIAA0753 Gene

GeneLoc Exon Structure for
KIAA0753
ECgene alternative splicing isoforms for
KIAA0753

Expression for KIAA0753 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA0753 Gene

Protein differential expression in normal tissues from HIPED for KIAA0753 Gene

This gene is overexpressed in Colon (23.6), Fetal Liver (10.5), Tonsil (9.1), and Kidney (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIAA0753 Gene



NURSA nuclear receptor signaling pathways regulating expression of KIAA0753 Gene:

KIAA0753

SOURCE GeneReport for Unigene cluster for KIAA0753 Gene:

Hs.28070

Evidence on tissue expression from TISSUES for KIAA0753 Gene

  • Nervous system(4.6)
  • Adrenal gland(2.6)
  • Gall bladder(2.2)
  • Intestine(2.2)
  • Kidney(2.2)
  • Pancreas(2.2)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with KIAA0753: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA0753 Gene

Orthologs for KIAA0753 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIAA0753 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0753 34 35
  • 99 (n)
cow
(Bos Taurus)
Mammalia KIAA0753 34 35
  • 83.73 (n)
mouse
(Mus musculus)
Mammalia 4933427D14Rik 34 16 35
  • 81.54 (n)
rat
(Rattus norvegicus)
Mammalia RGD1304728 34
  • 81.17 (n)
dog
(Canis familiaris)
Mammalia KIAA0753 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0753 35
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0753 35
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0753 34 35
  • 59.48 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-243i1.1 35
  • 35 (a)
OneToOne
Species where no ortholog for KIAA0753 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)
  • lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIAA0753 Gene

ENSEMBL:
Gene Tree for KIAA0753 (if available)
TreeFam:
Gene Tree for KIAA0753 (if available)

Paralogs for KIAA0753 Gene

No data available for Paralogs for KIAA0753 Gene

Variants for KIAA0753 Gene

Sequence variations from dbSNP and Humsavar for KIAA0753 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs886038200 Pathogenic 6,607,209(-) AAGCC(A/T)AGGAA nc-transcript-variant, reference, stop-gained
rs886038201 Pathogenic 6,610,163(-) TCTCA(A/C)AGGGA intron-variant
rs1000011721 -- 6,620,096(+) AGAAT(A/G)TGAAC intron-variant
rs1000022662 -- 6,578,323(+) AGGCA(C/T)ATACT intron-variant, downstream-variant-500B, utr-variant-3-prime, splice-donor-variant
rs1000100195 -- 6,577,707(+) TTCTT(C/G)CAGTA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for KIAA0753 Gene

Variant ID Type Subtype PubMed ID
esv26106 CNV loss 19812545
esv3303390 CNV mobile element insertion 20981092
esv3308774 CNV mobile element insertion 20981092
esv3345587 CNV insertion 20981092
esv3346381 CNV insertion 20981092
esv3372044 CNV insertion 20981092
nsv574278 CNV gain 21841781
nsv952116 CNV deletion 24416366

Variation tolerance for KIAA0753 Gene

Residual Variation Intolerance Score: 87.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.40; 98.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA0753 Gene

Human Gene Mutation Database (HGMD)
KIAA0753
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0753

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0753 Gene

Disorders for KIAA0753 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KIAA0753 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
orofaciodigital syndrome vi
  • joubert syndrome with orofaciodigital defect
anterograde amnesia
  • amnesia, anterograde
orofaciodigital syndrome
  • orofaciodigital syndrome i
wernicke-korsakoff syndrome
  • korsakoff syndrome
pulmonary valve insufficiency
  • pulmonary incompetence
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MOONR_HUMAN
  • Orofaciodigital syndrome 15 (OFD15) [MIM:617127]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD15 features include facial dysmorphism, lobulated tongue, clefting of the alveolar ridges, left hand postaxial polydactyly, broad right hallux and left hallux duplication, and intermittent respiratory difficulty. Brain anomalies include vermis hypoplasia with molar tooth sign, agenesis of corpus callosum, and ventricular dilation. OFD15 inheritance is autosomal recessive. {ECO:0000269 PubMed:26643951}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for KIAA0753

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA0753
genes like me logo Genes that share disorders with KIAA0753: view

No data available for Genatlas for KIAA0753 Gene

Publications for KIAA0753 Gene

  1. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. (PMID: 26643951) Chevrier V. … Thauvin-Robinet C. (Hum. Mol. Genet. 2016) 2 3 4 64
  2. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A. … Reiter J.F. (Elife 2015) 2 3 4 64
  3. Proximity Interactions among Centrosome Components Identify Regulators of Centriole Duplication. (PMID: 24613305) Firat-Karalar E.N. … Stearns T. (Curr. Biol. 2014) 2 3 4 64
  4. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 3 4 64
  5. Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. (PMID: 28125082) Vilboux T. … Gunay-Aygun M. (Genet. Med. 2017) 3 64

Products for KIAA0753 Gene

Sources for KIAA0753 Gene

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