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

Gene ID: 23116, updated on 3-Nov-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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 6.9), brain (RPKM 6.9) and 25 other tissues See more
Orthologs
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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 (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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
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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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