KIAA0753 Gene (Protein Coding)

KIAA0753

GC17M006578
GIFtS:
35
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] See more...

Aliases for KIAA0753 Gene

Aliases for KIAA0753 Gene

  • KIAA0753 2 3
  • OFD1 And FOPNL Interacting Protein 2 3
  • Protein Moonraker 3 4
  • OFIP 3 4
  • MNR 3 4
  • OFD1- And FOPNL-Interacting Protein 4
  • 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 Xv and Orofaciodigital Syndrome Vi.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for KIAA0753 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIAA0753 Gene

Genomics for KIAA0753 Gene

GeneHancer (GH) Regulatory Elements for KIAA0753 Gene

Promoters and enhancers for KIAA0753 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA0753 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA0753

Top Transcription factor binding sites by QIAGEN in the KIAA0753 gene promoter:
  • AP-4
  • c-Myc
  • HSF2
  • Max1
  • Msx-1
  • N-Myc
  • Pax-4a
  • Pax-5
  • USF-1
  • USF1

Genomic Locations for KIAA0753 Gene

Genomic Locations for KIAA0753 Gene
chr17:6,578,147-6,641,744
(GRCh38/hg38)
Size:
63,598 bases
Orientation:
Minus strand
chr17:6,481,468-6,544,247
(GRCh37/hg19)
Size:
62,780 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 Structure • Gene Density

RefSeq DNA sequence for KIAA0753 Gene

Proteins for KIAA0753 Gene

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  • 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=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA0753 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0753 Gene

Protein Expression for KIAA0753 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KIAA0753 Gene

  • Ubiquitination at Lys26
  • Modification sites at PhosphoSitePlus

Other Protein References for KIAA0753 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIAA0753 Gene

Domains & Families for KIAA0753 Gene

Gene Families for KIAA0753 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for KIAA0753 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA0753 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50222 (B7Z6L6_HUMAN)
genes like me logo Genes that share domains with KIAA0753: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KIAA0753 Gene

Function for KIAA0753 Gene

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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).

Phenotypes From GWAS Catalog for KIAA0753 Gene

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

Human Phenotype Ontology for KIAA0753 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIAA0753 Gene

MGI Knock Outs for KIAA0753:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0753

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (4)
  • Cytosol (4)
See all subcellular structures

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

PathCards logo

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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for KIAA0753 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KIAA0753 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0753

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

Expression for KIAA0753 Gene

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  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for KIAA0753 Gene
mRNA expression by GTEx for KIAA0753 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for KIAA0753 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia KIAA0753 31 30
  • 83.73 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia 4933427D14Rik 17 31 30
  • 81.54 (n)
rat
(Rattus norvegicus)
 Mammalia RGD1304728 30
  • 81.17 (n)
dog
(Canis familiaris)
 Mammalia KIAA0753 31
  • 61 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KIAA0753 31
  • 49 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia KIAA0753 31
  • 36 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KIAA0753 31 30
  • 59.48 (n)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii si:dkey-243i1.1 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA0753: view image

Paralogs for KIAA0753 Gene

No data available for Paralogs for KIAA0753 Gene

Variants for KIAA0753 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA0753 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
598087 Pathogenic: not provided 6,612,141(-) A/T NONSENSE
rs141632537 Likely Benign: not provided 6,624,826(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs1555531363 Pathogenic: Joubert syndrome; Jeune thoracic dystrophy 6,620,831(-) TG/T FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs370840009 Pathogenic: not provided 6,589,909(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs371406853 Uncertain Significance: not provided 6,589,797(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for KIAA0753 Gene

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)

Additional Variant Information 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

(14) MalaCards diseases for KIAA0753 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for KIAA0753

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Human molecular genetics 2016) 2 3 4 54
  2. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A … Reiter JF (eLife 2015) 2 3 4 54
  3. Proximity interactions among centrosome components identify regulators of centriole duplication. (PMID: 24613305) Firat-Karalar EN … Stearns T (Current biology : CB 2014) 2 3 4 54
  4. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. (PMID: 28220259) Stephen J … Gunay-Aygun M (Human genetics 2017) 3 4 54
  5. 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 54

ExternalLinks

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