U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 23116, updated on 3-Dec-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.9), brain (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001308120.2NP_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:8111152
      LRIF1; Ligand-dependent nuclear receptor-interacting factor 1
      sd00044
      Location:395423
      HEAT; HEAT repeat [structural motif]
    2. NM_015091.4NP_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:8111152
      LRIF1; Ligand-dependent nuclear receptor-interacting factor 1
      sd00044
      Location:395423
      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_011536571.2XP_011534873.1  TOG array regulator of axonemal microtubules protein 1 isoform X3

      Conserved Domains (2) summary
      pfam15741
      Location:8111152
      LRIF1; Ligand-dependent nuclear receptor-interacting factor 1
      sd00044
      Location:395423
      HEAT; HEAT repeat [structural motif]
    2. XM_017021098.2XP_016876587.1  TOG array regulator of axonemal microtubules protein 1 isoform X1

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

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

      UniProtKB/TrEMBL
      B4DHM7
    5. XM_017021100.2XP_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_054375662.1XP_054231637.1  TOG array regulator of axonemal microtubules protein 1 isoform X3

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

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

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

      UniProtKB/TrEMBL
      B4DHM7
    5. XM_054375664.1XP_054231639.1  TOG array regulator of axonemal microtubules protein 1 isoform X5

      UniProtKB/TrEMBL
      B4DHM7

    RNA

    1. XR_008488829.1 RNA Sequence