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    TTC21B tetratricopeptide repeat domain 21B [ Homo sapiens (human) ]

    Gene ID: 79809, updated on 10-Sep-2016
    Official Symbol
    TTC21Bprovided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 21Bprovided by HGNC
    Primary source
    HGNC:HGNC:25660
    See related
    Ensembl:ENSG00000123607 HPRD:07752; MIM:612014; Vega:OTTHUMG00000154083
    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
    ATD4; THM1; SRTD4; IFT139; JBTS11; NPHP12; IFT139B; Nbla10696
    Summary
    This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]
    Orthologs
    Location:
    2q24.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (165873362..165953838, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (166729872..166810348, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373730 Neighboring gene uncharacterized LOC100506124 Neighboring gene TTC21B antisense RNA 1 Neighboring gene uncharacterized LOC102724058 Neighboring gene sodium voltage-gated channel alpha subunit 1 Neighboring gene uncharacterized LOC101929680 Neighboring gene RNA, 7SK small nuclear pseudogene 152

    • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
      Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
    • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Intraflagellar transport, organism-specific biosystem (from REACTOME)
      Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ11457

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cilium morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    forebrain dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    intraciliary transport involved in cilium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    ciliary tip TAS
    Traceable Author Statement
    more info
     
    cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    intraciliary transport particle A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    primary cilium TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    tetratricopeptide repeat protein 21B
    Names
    TPR repeat protein 21B
    putative protein product of Nbla10696

    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_030345.1 RefSeqGene

      Range
      5001..85477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024753.4NP_079029.3  tetratricopeptide repeat protein 21B

      See identical proteins and their annotated locations for NP_079029.3

      Status: REVIEWED

      Source sequence(s)
      AC011241, AK292942, BC035767, BC055424, BX114229, CK905149
      Consensus CDS
      CCDS33315.1
      UniProtKB/Swiss-Prot
      Q7Z4L5
      UniProtKB/TrEMBL
      A8KA77
      Related
      ENSP00000243344, OTTHUMP00000205022, ENST00000243344, OTTHUMT00000333770
      Conserved Domains (4) summary
      TIGR02917
      Location:48550
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:722750
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:721784
      TPR_11; TPR repeat
      pfam14559
      Location:895961
      TPR_19; Tetratricopeptide repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      165873362..165953838 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511872.2XP_011510174.1  

      Conserved Domains (4) summary
      pfam12895
      Location:770857
      Apc3; Anaphase-promoting complex, cyclosome, subunit 3
      pfam13414
      Location:721784
      TPR_11; TPR repeat
      TIGR02917
      Location:48550
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:722750
      TPR; TPR repeat [structural motif]
    2. XM_017004969.1XP_016860458.1  

    3. XM_011511871.2XP_011510173.1  

      Conserved Domains (4) summary
      pfam12895
      Location:520607
      Apc3; Anaphase-promoting complex, cyclosome, subunit 3
      pfam13414
      Location:471534
      TPR_11; TPR repeat
      pfam14559
      Location:645711
      TPR_19; Tetratricopeptide repeat
      sd00006
      Location:472500
      TPR; TPR repeat [structural motif]
    4. XM_017004968.1XP_016860457.1  

    5. XM_017004967.1XP_016860456.1  

    6. XM_006712761.1XP_006712824.1  

      Conserved Domains (5) summary
      COG0457
      Location:90355
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:722750
      TPR; TPR repeat [structural motif]
      pfam12895
      Location:770857
      ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
      pfam13414
      Location:721784
      TPR_11; TPR repeat
      pfam14559
      Location:895961
      TPR_19; Tetratricopeptide repeat

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      166736157..166816658 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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