Aliases for KIAA0753 Gene
Aliases for KIAA0753 Gene
External Ids for KIAA0753 Gene
- HGNC: 29110
- Entrez Gene: 9851
- Ensembl: ENSG00000198920
- OMIM: 617112
- UniProtKB: Q2KHM9
Previous GeneCards Identifiers for KIAA0753 Gene
- GC17M006870
- GC17M007212
- GC17M006426
- GC17M006682
- GC17M006422
Summaries 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 Polydactyly Cleft Lip Palate Psychomotor Retardation.
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).
Additional gene information for KIAA0753 Gene
- Monarch Initiative
- Search for KIAA0753 at DataMed
- Search for KIAA0753 at HumanCyc
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
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
- Top Transcription factor binding sites by QIAGEN in the KIAA0753 gene promoter:
-
- Pax-4a
- HSF2
- Max1
- c-Myc
- USF-1
- USF1
- Pax-5
- AP-4
- Msx-1
- N-Myc
Regulatory Element Products
Genomic Locations for KIAA0753 Gene
Genomic Locations for KIAA0753 Gene
- chr17:6,578,148-6,641,744
- (GRCh38/hg38)
- Size:
- 63,597 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:
-
- 17p13.1 by Entrez Gene
- 17p13.1 by HGNC
- 17p13.1 by Ensembl
KIAA0753 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for KIAA0753 Gene
Post-translational modifications for KIAA0753 Gene
Other Protein References for KIAA0753 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KIAA0753
- Invitrogen Antibodies for KIAA0753 (AFLGC-KIAA0753)
- Search GeneTex for Antibodies for KIAA0753
-
Santa Cruz Biotechnology (SCBT) Antibodies for KIAA0753
Protein Products
-
OriGene Purified Proteins for KIAA0753
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- Search GeneTex for Proteins for KIAA0753
Assay Products
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
Suggested Antigen Peptide Sequences for KIAA0753 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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).
Phenotypes From GWAS Catalog for KIAA0753 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for KIAA0753 Gene
- MGI mutant phenotypes for KIAA0753:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KIAA0753:
Animal Models for KIAA0753 Gene
- MGI Knock Outs for KIAA0753:
-
- 4933427D14Rik 4933427D14Rik<tm1.1(KOMP)Vlcg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for KIAA0753
-
CRISPR Products
-
OriGene CRISPR knockouts for KIAA0753
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for KIAA0753
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- genomics-online: cdna clones - Search results for available KIAA0753 gene related products
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- Applied Biological Materials Clones for KIAA0753
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 4 |
- Centrosome (4)
- Cytosol (4)
| 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 | -- |
Pathways & Interactions for KIAA0753 Gene
No Data Available
Interacting Proteins for KIAA0753 Gene
Selected Interacting proteins:
Q2KHM9-MOONR_HUMAN
ENSP00000355250
for KIAA0753 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for KIAA0753
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007099 | centriole replication | IEA | -- |
| GO:0071539 | protein localization to centrosome | IMP | 26297806 |
No data available for Pathways by source and SIGNOR curated interactions for KIAA0753 Gene
Transcripts for KIAA0753 Gene
mRNA/cDNA for KIAA0753 Gene
- (11) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (85) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000576281 508 bps (uc060aec.1)
- ENST00000361413 4859 bps (uc002gde.5)
- ENST00000570790 3403 bps (uc060aed.1)
- ENST00000572370 3263 bps (uc010vte.3)
- ENST00000542826 1572 bps (uc060aee.1)
CRISPR Products
-
OriGene CRISPR knockouts for KIAA0753
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KIAA0753
- genomics-online: gRNA clones - Search results for available KIAA0753 gene related products
- Applied Biological Materials CRISPR for KIAA0753
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIAA0753
- GenScript: Design CRISPR guide RNA sequences for KIAA0753
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KIAA0753
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Clone Products
- Sino Biological Human cDNA Clone for KIAA0753
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KIAA0753
- genomics-online: cdna clones - Search results for available KIAA0753 gene related products
- orf clones - Search results for available KIAA0753 gene related products
- Applied Biological Materials Clones for KIAA0753
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of KIAA0753 Gene:
KIAA0753SOURCE GeneReport for Unigene cluster for KIAA0753 Gene:
Hs.28070Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for KIAA0753
- genomics-online: primer clones - Search results for available KIAA0753 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KIAA0753 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KIAA0753 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | 4933427D14Rik 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | RGD1304728 33 |
|
||
| dog (Canis familiaris) |
Mammalia | KIAA0753 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KIAA0753 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | KIAA0753 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KIAA0753 34 33 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | si:dkey-243i1.1 34 |
|
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
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs886038200 | pathogenic, Orofaciodigital syndrome XV, not specified | 6,607,209(-) | T/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs886038201 | pathogenic, Orofaciodigital syndrome XV | 6,610,163(-) | G/T | intron_variant | |
| rs770256450 | pathogenic, not specified | 6,610,134(-) | TCT/T | 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs141632537 | likely-benign, not provided | 6,624,826(-) | G/A | 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs61735441 | likely-benign, not provided | 6,608,421(-) | T/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0753 Gene
Disorders for KIAA0753 Gene
(9) MalaCards diseases for KIAA0753 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| orofaciodigital syndrome xv |
|
|
| polydactyly cleft lip palate psychomotor retardation |
|
|
| short-rib thoracic dysplasia 1 with or without polydactyly |
|
|
| asphyxiating thoracic dystrophy |
|
|
| joubert syndrome 1 |
|
|
Search KIAA0753 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for KIAA0753 Gene
Publications for KIAA0753 Gene
- 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 58
- Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A … Reiter JF (eLife 2015) 2 3 4 58
- Proximity interactions among centrosome components identify regulators of centriole duplication. (PMID: 24613305) Firat-Karalar EN … Stearns T (Current biology : CB 2014) 2 3 4 58
- Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. (PMID: 28220259) Stephen J … Gunay-Aygun M (Human genetics 2017) 3 4 58
- 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 58
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Sources for KIAA0753 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
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