Aliases for TOGARAM1 Gene

Aliases for TOGARAM1 Gene

  • TOG Array Regulator Of Axonemal Microtubules 1 2 3 5
  • Crescerin-1 2 3 4
  • Crescerin 2 2 3
  • KIAA0423 2 3 4
  • TOG Array Regulator Of Axonemal Microtubules Protein 1 3 4
  • Family With Sequence Similarity 179 Member B 2 3
  • Protein FAM179B 3 4
  • FAM179B 3 4
  • Family With Sequence Similarity 179, Member B 2
  • TOGARAM1 5

External Ids for TOGARAM1 Gene

Previous HGNC Symbols for TOGARAM1 Gene

  • KIAA0423
  • FAM179B

Summaries for TOGARAM1 Gene

GeneCards Summary for TOGARAM1 Gene

TOGARAM1 (TOG Array Regulator Of Axonemal Microtubules 1) is a Protein Coding gene. An important paralog of this gene is TOGARAM2.

UniProtKB/Swiss-Prot Summary for TOGARAM1 Gene

  • Required for normal structure and function of primary cilia. Plays a role in the organization of axoneme microtubule bundles in primary cilia (By similarity). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity).

Additional gene information for TOGARAM1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOGARAM1 Gene

Genomics for TOGARAM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TOGARAM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J044959 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.8 1757 8.9 SP1 CREB1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 SIX5 SOX13 ZNF692 KLHL28 TOGARAM1 PRPF39 FANCM LINC02302 MIS18BP1 piR-41689-005 lnc-KLHL28-3
GH14J045133 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.4 +173.5 173511 6.2 SP1 HNRNPL CREB1 GATAD2A ATF7 TEAD4 ZNF629 PRDM10 REST TFE3 FANCM FKBP3 lnc-FANCM-13 SNORD127 ENSG00000212615 ENSG00000249163 PRPF39 LINC02302 KLHL28 TOGARAM1
GH14J044988 Enhancer 0.5 Ensembl 11.8 +27.3 27311 2.2 POLR2A OSR2 SPI1 FEZF1 TRIM28 SMARCA4 KLHL28 LINC02302 TOGARAM1 ENSG00000249163 PRPF39 ENSG00000212615 piR-41689-005 lnc-KLHL28-3
GH14J045140 Enhancer 0.3 Ensembl 10.4 +178.3 178311 0.6 FOS piR-50437-170 ENSG00000212615 ENSG00000249163 PRPF39 KLHL28 SNORD127 TOGARAM1 LINC02302 FANCM MIS18BP1
GH14J045315 Enhancer 0.2 Ensembl 4 +353.3 353311 0.2 TOGARAM1 MN309174-171 lnc-FANCM-8 MIS18BP1 ENSG00000257900
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOGARAM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOGARAM1

Genomic Locations for TOGARAM1 Gene

Genomic Locations for TOGARAM1 Gene
chr14:44,962,190-45,074,431
(GRCh38/hg38)
Size:
112,242 bases
Orientation:
Plus strand
chr14:45,431,411-45,543,634
(GRCh37/hg19)
Size:
112,224 bases
Orientation:
Plus strand

Genomic View for TOGARAM1 Gene

Genes around TOGARAM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOGARAM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOGARAM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOGARAM1 Gene

Proteins for TOGARAM1 Gene

  • Protein details for TOGARAM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4F4-TGRM1_HUMAN
    Recommended name:
    TOG array regulator of axonemal microtubules protein 1
    Protein Accession:
    Q9Y4F4
    Secondary Accessions:
    • Q68D66
    • Q6PG27

    Protein attributes for TOGARAM1 Gene

    Size:
    1720 amino acids
    Molecular mass:
    189360 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA24853.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAH18354.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for TOGARAM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOGARAM1 Gene

Post-translational modifications for TOGARAM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TOGARAM1 Gene

Domains & Families for TOGARAM1 Gene

Gene Families for TOGARAM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TOGARAM1 Gene

InterPro:
Blocks:
  • HEAT repeat
ProtoNet:

Suggested Antigen Peptide Sequences for TOGARAM1 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM179B (F179B_HUMAN)
  • FAM179B protein (Q6P183_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y4F4

UniProtKB/Swiss-Prot:

TGRM1_HUMAN :
  • The TOG regions are composed of HEAT-type repeats that assemble into a solenoid structure. They mediate interaction with microtubules.
  • Belongs to the Crescerin family.
Domain:
  • The TOG regions are composed of HEAT-type repeats that assemble into a solenoid structure. They mediate interaction with microtubules.
Family:
  • Belongs to the Crescerin family.
genes like me logo Genes that share domains with TOGARAM1: view

Function for TOGARAM1 Gene

Molecular function for TOGARAM1 Gene

UniProtKB/Swiss-Prot Function:
Required for normal structure and function of primary cilia. Plays a role in the organization of axoneme microtubule bundles in primary cilia (By similarity). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity).

Phenotypes From GWAS Catalog for TOGARAM1 Gene

Gene Ontology (GO) - Molecular Function for TOGARAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IBA 21873635
genes like me logo Genes that share ontologies with TOGARAM1: view
genes like me logo Genes that share phenotypes with TOGARAM1: view

miRNA for TOGARAM1 Gene

miRTarBase miRNAs that target TOGARAM1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOGARAM1 Gene

Localization for TOGARAM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOGARAM1 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton. Note=Detected along the length of primary cilia and at the basal body. Colocalization with the cytoplasmic microtubule cytoskeleton upon heterologous expression is most likely an artifact. {ECO:0000250 UniProtKB:Q6A070}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOGARAM1 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TOGARAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005874 colocalizes_with microtubule IEA,ISS --
GO:0005876 spindle microtubule IBA 21873635
genes like me logo Genes that share ontologies with TOGARAM1: view

Pathways & Interactions for TOGARAM1 Gene

PathCards logo

SuperPathways for TOGARAM1 Gene

No Data Available

Interacting Proteins for TOGARAM1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000355045 Q9Y4F4-TGRM1_HUMAN for TOGARAM1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TOGARAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0030030 cell projection organization IEA --
GO:0031110 regulation of microtubule polymerization or depolymerization IBA 21873635
GO:0031116 positive regulation of microtubule polymerization IEA,ISS --
GO:0035082 axoneme assembly ISS --
genes like me logo Genes that share ontologies with TOGARAM1: view

No data available for Pathways by source and SIGNOR curated interactions for TOGARAM1 Gene

Drugs & Compounds for TOGARAM1 Gene

No Compound Related Data Available

Transcripts for TOGARAM1 Gene

mRNA/cDNA for TOGARAM1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for TOGARAM1 Gene

No ASD Table

Relevant External Links for TOGARAM1 Gene

GeneLoc Exon Structure for
TOGARAM1

Expression for TOGARAM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOGARAM1

Evidence on tissue expression from TISSUES for TOGARAM1 Gene

  • Nervous system(4.5)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOGARAM1 Gene

Orthologs for TOGARAM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TOGARAM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM179B 30 31
  • 99.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM179B 30 31
  • 91.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM179B 30 31
  • 90.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam179b 30
  • 87.19 (n)
Mouse
(Mus musculus)
Mammalia Fam179b 30 31
  • 86.32 (n)
OneToOne
Togaram1 17
Oppossum
(Monodelphis domestica)
Mammalia FAM179B 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM179B 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM179B 30
  • 67.68 (n)
Lizard
(Anolis carolinensis)
Reptilia FAM179B 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495084 30
  • 56.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii FAM179B 31
  • 30 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG42399 31
  • 10 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea che-12 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToMany
Species where no ortholog for TOGARAM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TOGARAM1 Gene

ENSEMBL:
Gene Tree for TOGARAM1 (if available)
TreeFam:
Gene Tree for TOGARAM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TOGARAM1: view image

Paralogs for TOGARAM1 Gene

Paralogs for TOGARAM1 Gene

genes like me logo Genes that share paralogs with TOGARAM1: view

Variants for TOGARAM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOGARAM1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs3742591 - p.Leu511Val
rs3825629 - p.Glu416Gln

Additional dbSNP identifiers (rs#s) for TOGARAM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TOGARAM1 Gene

Variant ID Type Subtype PubMed ID
dgv1904n100 CNV loss 25217958
esv2505295 CNV deletion 19546169
esv2748675 CNV deletion 23290073
esv3634341 CNV loss 21293372
nsv1038384 CNV loss 25217958
nsv1127379 CNV deletion 24896259
nsv1259 CNV deletion 18451855
nsv1260 CNV deletion 18451855
nsv832785 CNV loss 17160897

Variation tolerance for TOGARAM1 Gene

Residual Variation Intolerance Score: 5.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.85; 83.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TOGARAM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOGARAM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOGARAM1 Gene

Disorders for TOGARAM1 Gene

No disorders were found for TOGARAM1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TOGARAM1 Gene

Publications for TOGARAM1 Gene

  1. Crescerin uses a TOG domain array to regulate microtubules in the primary cilium. (PMID: 26378256) Das A … Slep KC (Molecular biology of the cell 2015) 2 3
  2. Detection of hypothetical proteins in human fetal perireticular nucleus. (PMID: 16335990) Hepner F … Lubec G (Journal of proteome research 2005) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4
  5. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4

Products for TOGARAM1 Gene

Sources for TOGARAM1 Gene