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    TOGARAM1 TOG array regulator of axonemal microtubules 1 [ Homo sapiens (human) ]

    Gene ID: 23116, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TOGARAM1provided by HGNC
    Official Full Name
    TOG array regulator of axonemal microtubules 1provided by HGNC
    Primary source
    HGNC:HGNC:19959
    See related
    Ensembl:ENSG00000198718 MIM:617618; AllianceGenome:HGNC:19959
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JBTS37; FAM179B; KIAA0423
    Summary
    Predicted to enable microtubule binding activity. Involved in cilium assembly. Located in axoneme. Implicated in Joubert syndrome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.9), brain (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TOGARAM1 in Genome Data Viewer
    Location:
    14q21.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (44962190..45074431)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (39154204..39266443)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (45431393..45543634)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927418 Neighboring gene chromosome 14 open reading frame 28 Neighboring gene kelch like family member 28 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8295 Neighboring gene H3K27ac hESC enhancers GRCh37_chr14:45430821-45431335 and GRCh37_chr14:45431336-45431850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8297 Neighboring gene Sharpr-MPRA regulatory region 2603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5694 Neighboring gene small nucleolar RNA SNORD58 Neighboring gene PRPF39 divergent transcript Neighboring gene pre-mRNA processing factor 39

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Detection of hypothetical proteins in human fetal perireticular nucleus. Hepner F, et al. J Proteome Res, 2005 Nov-Dec. PMID 16335990
    2. Crescerin uses a TOG domain array to regulate microtubules in the primary cilium. Das A, et al. Mol Biol Cell, 2015 Nov 15. PMID 26378256, Free PMC Article
    3. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Latour BL, et al. J Clin Invest, 2020 Aug 3. PMID 32453716, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. Ishikawa K, et al. DNA Res, 1997 Oct 31. PMID 9455477
    5. Ephrin-As, Eph receptors and integrin α3 interact and colocalise at membrane protrusions of U251MG glioblastoma cells. Makarov A, et al. Cell Biol Int, 2013 Oct. PMID 23686814

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 37
    MedGen: C5543064 OMIM: 619185 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0423, DKFZp686D12126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in non-motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of microtubule polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    TOG array regulator of axonemal microtubules protein 1
    Names
    crescerin
    crescerin-1
    family with sequence similarity 179 member B
    protein FAM179B

    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.

    mRNA and Protein(s)

    1. NM_001308120.2 → NP_001295049.1  TOG array regulator of axonemal microtubules protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001295049.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA911186, AK295185, BC065234, BX648723
      Consensus CDS
      CCDS76676.1
      UniProtKB/TrEMBL
      G3XAE9
      Related
      ENSP00000354917.2, ENST00000361462.7
      Conserved Domains (2) summary
      pfam15741
      Location:811 → 1152
      LRIF1; Ligand-dependent nuclear receptor-interacting factor 1
      sd00044
      Location:395 → 423
      HEAT; HEAT repeat [structural motif]

    2. NM_015091.4 → NP_055906.2  TOG array regulator of axonemal microtubules protein 1 isoform 2

      See identical proteins and their annotated locations for NP_055906.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AB007883, AK295185, AL049870, BC065234
      Consensus CDS
      CCDS9681.1
      UniProtKB/Swiss-Prot
      Q68D66, Q6PG27, Q9Y4F4
      Related
      ENSP00000355045.3, ENST00000361577.7
      Conserved Domains (2) summary
      pfam15741
      Location:811 → 1152
      LRIF1; Ligand-dependent nuclear receptor-interacting factor 1
      sd00044
      Location:395 → 423
      HEAT; HEAT repeat [structural motif]

    RNA

    1. NR_131765.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon and contains an additional alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK295185, AL049870, BC057255, BC065234, CR749557

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      44962190..45074431
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536571.2 → XP_011534873.1  TOG array regulator of axonemal microtubules protein 1 isoform X3

      Conserved Domains (2) summary
      pfam15741
      Location:811 → 1152
      LRIF1; Ligand-dependent nuclear receptor-interacting factor 1
      sd00044
      Location:395 → 423
      HEAT; HEAT repeat [structural motif]

    2. XM_017021098.2 → XP_016876587.1  TOG array regulator of axonemal microtubules protein 1 isoform X1

    3. XM_017021099.2 → XP_016876588.1  TOG array regulator of axonemal microtubules protein 1 isoform X2

    4. XM_047431147.1 → XP_047287103.1  TOG array regulator of axonemal microtubules protein 1 isoform X4

    5. XM_017021100.2 → XP_016876589.1  TOG array regulator of axonemal microtubules protein 1 isoform X5

      UniProtKB/TrEMBL
      B4DHM7
      Related
      ENSP00000451829.1, ENST00000557423.5

    RNA

    1. XR_943403.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      39154204..39266443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375662.1 → XP_054231637.1  TOG array regulator of axonemal microtubules protein 1 isoform X3

    2. XM_054375660.1 → XP_054231635.1  TOG array regulator of axonemal microtubules protein 1 isoform X1

    3. XM_054375661.1 → XP_054231636.1  TOG array regulator of axonemal microtubules protein 1 isoform X2

    4. XM_054375663.1 → XP_054231638.1  TOG array regulator of axonemal microtubules protein 1 isoform X4

    5. XM_054375664.1 → XP_054231639.1  TOG array regulator of axonemal microtubules protein 1 isoform X5

    RNA

    1. XR_008488829.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4F4.4 GenPept UniProtKB/Swiss-Prot:Q9Y4F4

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