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    KIAA0753 KIAA0753 [ Homo sapiens (human) ]

    Gene ID: 9851, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KIAA0753 in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985017 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6347155-6347733 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:6347797-6348024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6350771-6351437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:6357121-6357839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6360909-6361690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6361691-6362472 Neighboring gene PICALM interacting mitotic regulator Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6367015-6367566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6367567-6368118 Neighboring gene PITPNM family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6373134-6373634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6374667-6375190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6377377-6377969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6377970-6378561 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6396251-6396752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6400873-6401763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6404362-6404908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6447205-6447705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6452242-6452960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6458140-6458786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6471007-6471507 Neighboring gene RNA, 5S ribosomal pseudogene 435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6540081-6540863 Neighboring gene uncharacterized LOC122526780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6540864-6541645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11584 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6543558-6544439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11587 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

    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
     
    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

    Preferred Names
    protein moonraker
    Names
    OFD1 and FOPNL interacting protein
    OFD1 and FOR20 interacting protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      A8KA11, B7Z479, O94853, Q05D97, Q2KHM9, Q2KHN0, 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: GCF_000001405.40-RS_2024_08

    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

      UniProtKB/TrEMBL
      B7Z6L6
    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)

    mRNA and Protein(s)

    1. XM_054318035.1XP_054174010.1  protein moonraker isoform X1

    2. XM_054318038.1XP_054174013.1  protein moonraker isoform X1

    3. XM_054318036.1XP_054174011.1  protein moonraker isoform X1

    4. XM_054318037.1XP_054174012.1  protein moonraker isoform X1

    5. XM_054318042.1XP_054174017.1  protein moonraker isoform X5

    6. XM_054318043.1XP_054174018.1  protein moonraker isoform X5

    7. XM_054318044.1XP_054174019.1  protein moonraker isoform X6

      UniProtKB/TrEMBL
      B7Z6L6
    8. XM_054318040.1XP_054174015.1  protein moonraker isoform X3

    9. XM_054318039.1XP_054174014.1  protein moonraker isoform X2

    10. XM_054318041.1XP_054174016.1  protein moonraker isoform X4