KIAA0753 KIAA0753 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIAA0753provided by HGNC
Official Full Name: KIAA0753provided by HGNC
Primary source: HGNC:HGNC:29110
See related: Ensembl:ENSG00000198920 MIM:617112; AllianceGenome:HGNC:29110
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MNR; OFIP; JBTS38; SRTD21
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 6.1), thyroid (RPKM 4.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (6578147..6640711, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (6478727..6541342, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (6481467..6544031, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Title: Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
Title: CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
A ciliopathy complex builds distal appendages to initiate ciliogenesis.
Title: A ciliopathy complex builds distal appendages to initiate ciliogenesis.
We demonstrate that KIAA0753 is expressed in normal fetal human growth plate and show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone.
Title: Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16
Title: Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Joubert syndrome 38 MedGen: C5561958 OMIM: 619476 GeneReviews: Not available	Compare labs
Orofaciodigital syndrome XV MedGen: C4310701 OMIM: 617127 GeneReviews: Not available	Compare labs
Short-rib thoracic dysplasia 21 without polydactyly MedGen: C5561961 OMIM: 619479 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64650 (e-PCR)
- UniSTS:53528

WIAF-1598 (e-PCR)
- UniSTS:32838

SHGC-32950 (e-PCR)
- UniSTS:35204

D17S1881 (e-PCR), detects polymorphism
- UniSTS:31419

RH18356 (e-PCR)
- UniSTS:36571

SGC32442 (e-PCR)
- UniSTS:99814

SHGC-130708 (e-PCR)
- UniSTS:183025

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in centriole replication	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytosolic ciliogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to centrosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to centrosome	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein moonraker

Names: OFD1 and FOPNL interacting protein; OFD1 and FOR20 interacting protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.