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    KIAA0753 KIAA0753 [ Homo sapiens (human) ]

    Gene ID: 9851, updated on 5-Aug-2018

    Summary

    Official Symbol
    KIAA0753provided by HGNC
    Official Full Name
    KIAA0753provided by HGNC
    Primary source
    HGNC:HGNC:29110
    See related
    Ensembl:ENSG00000198920 MIM:617112; Vega:OTTHUMG00000177928
    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
    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

    Genomic context

    See KIAA0753 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (6578151..6640927, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6481645..6545066, 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 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 Jun 15 11:32:44 2016

    Bibliography

    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
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    centriole replication IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to centrosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centriole IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    protein moonraker
    Names
    OFD1 and FOPNL interacting protein

    NCBI Reference Sequences (RefSeq)

    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
      5001..67603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

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

      See identical proteins and their annotated locations for NP_055619.2

      Status: REVIEWED

      Source sequence(s)
      AB018296, AL080108, BC113016, DB075150
      Consensus CDS
      CCDS42247.1
      UniProtKB/Swiss-Prot
      Q2KHM9
      Related
      ENSP00000355250.3, OTTHUMP00000258098, ENST00000361413.7, OTTHUMT00000439769
      Conserved Domains (1) summary
      pfam15718
      Location:1962
      DUF4673; Domain of unknown function (DUF4673)

    RNA

    1. NR_147086.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004706, AC015916, AL080108
    2. NR_147087.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004706, AC015916, AL080108
    3. NR_147088.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004706, AC015916, AL080108

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      6578151..6640927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      pfam15718
      Location:1954
      DUF4673; Domain of unknown function (DUF4673)
    2. XM_011524090.3XP_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)
    3. XM_011524095.2XP_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)
    4. XM_011524091.2XP_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)
    5. XM_017025455.2XP_016880944.1  protein moonraker isoform X1

      Conserved Domains (1) summary
      pfam15718
      Location:1984
      DUF4673; Domain of unknown function (DUF4673)
    6. XM_006721612.2XP_006721675.1  protein moonraker isoform X4

      See identical proteins and their annotated locations for XP_006721675.1

      UniProtKB/Swiss-Prot
      Q2KHM9
      Related
      ENSP00000460050.1, OTTHUMP00000258100, ENST00000572370.5, OTTHUMT00000439771
      Conserved Domains (1) summary
      pfam15718
      Location:1663
      MNR; Protein moonraker
    7. XM_011524098.2XP_011522400.1  protein moonraker isoform X3

      See identical proteins and their annotated locations for XP_011522400.1

      Conserved Domains (1) summary
      pfam15718
      Location:1685
      DUF4673; Domain of unknown function (DUF4673)
    8. XM_011524099.2XP_011522401.1  protein moonraker isoform X3

      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_011524100.3XP_011522402.1  protein moonraker isoform X3

      See identical proteins and their annotated locations for XP_011522402.1

      Conserved Domains (1) summary
      pfam15718
      Location:1685
      DUF4673; Domain of unknown function (DUF4673)

    RNA

    1. XR_001752707.2 RNA Sequence

    2. XR_934126.2 RNA Sequence

    3. XR_001752709.2 RNA Sequence

    4. XR_001752708.2 RNA Sequence

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