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KIAA0753 KIAA0753 [ Homo sapiens (human) ]

Gene ID: 9851, updated on 22-Sep-2022

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
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Genomic context

See KIAA0753 in Genome Data Viewer
Location:
17p13.1
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (6578147..6640711, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (6478727..6541342, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6481467..6544031, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985017 Neighboring gene PICALM interacting mitotic regulator Neighboring gene PITPNM family member 3 Neighboring gene RNA, 5S ribosomal pseudogene 435 Neighboring gene uncharacterized LOC122526780 Neighboring gene thioredoxin domain containing 17 Neighboring gene chromosome 17 open reading frame 100 Neighboring gene mediator complex subunit 31

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC130040, MGC130041

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
PubMed 
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
PubMed 
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
 

General protein information

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.

Genomic

  1. NG_054885.1 RefSeqGene

    Range
    5217..67781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001351225.2NP_001338154.1  protein moonraker isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC004706, AC015916, AL080108
    Consensus CDS
    CCDS86564.1
    Related
    ENSP00000460050.1, ENST00000572370.5
    Conserved Domains (1) summary
    pfam15718
    Location:1663
    MNR; Protein moonraker
  2. NM_014804.3NP_055619.2  protein moonraker isoform 1

    See identical proteins and their annotated locations for NP_055619.2

    Status: REVIEWED

    Source sequence(s)
    AB018296, AC015916, AL080108, BC113016, DB075150
    Consensus CDS
    CCDS42247.1
    UniProtKB/Swiss-Prot
    Q2KHM9, Q9UG45
    Related
    ENSP00000355250.3, ENST00000361413.8
    Conserved Domains (1) summary
    pfam15718
    Location:1962
    DUF4673; Domain of unknown function (DUF4673)

RNA

  1. NR_147086.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004706, AC015916, AL080108
  2. NR_147087.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004706, AC015916, AL080108
  3. NR_147088.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004706, AC015916, AL080108

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    6578147..6640711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437193.1XP_047293149.1  protein moonraker isoform X3

  2. XM_011524096.3XP_011522398.1  protein moonraker isoform X2

    Conserved Domains (1) summary
    pfam15718
    Location:1954
    DUF4673; Domain of unknown function (DUF4673)
  3. XM_011524090.4XP_011522392.1  protein moonraker isoform X1

    See identical proteins and their annotated locations for XP_011522392.1

    Conserved Domains (1) summary
    pfam15718
    Location:1984
    DUF4673; Domain of unknown function (DUF4673)
  4. XM_011524095.3XP_011522397.1  protein moonraker isoform X1

    See identical proteins and their annotated locations for XP_011522397.1

    Conserved Domains (1) summary
    pfam15718
    Location:1984
    DUF4673; Domain of unknown function (DUF4673)
  5. XM_011524091.3XP_011522393.1  protein moonraker isoform X1

    See identical proteins and their annotated locations for XP_011522393.1

    Conserved Domains (1) summary
    pfam15718
    Location:1984
    DUF4673; Domain of unknown function (DUF4673)
  6. XM_017025455.3XP_016880944.1  protein moonraker isoform X1

    Conserved Domains (1) summary
    pfam15718
    Location:1984
    DUF4673; Domain of unknown function (DUF4673)
  7. XM_011524100.4XP_011522402.1  protein moonraker isoform X5

    See identical proteins and their annotated locations for XP_011522402.1

    Conserved Domains (1) summary
    pfam15718
    Location:1685
    DUF4673; Domain of unknown function (DUF4673)
  8. XM_011524099.3XP_011522401.1  protein moonraker isoform X5

    See identical proteins and their annotated locations for XP_011522401.1

    Conserved Domains (1) summary
    pfam15718
    Location:1685
    DUF4673; Domain of unknown function (DUF4673)
  9. XM_047437195.1XP_047293151.1  protein moonraker isoform X6

  10. XM_047437194.1XP_047293150.1  protein moonraker isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    6478727..6541342 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)