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Aliases for TBC1D32 Gene

Aliases for TBC1D32 Gene

  • TBC1 Domain Family, Member 32 2 3
  • Broad-Minded Homolog 2 3
  • C6orf170 3 4
  • C6orf171 3 4
  • BROMI 3 4
  • Chromosome 6 Open Reading Frame 171 2
  • Chromosome 6 Open Reading Frame 170 2
  • TBC1 Domain Family Member 32 4
  • BA301B7.2 (Novel Protein) 3
  • DJ310J6.1 (Novel Protein) 3
  • Protein Broad-Minded 3
  • BA301B7.2 3
  • DJ310J6.1 3
  • BA57L9.1 3

External Ids for TBC1D32 Gene

Previous HGNC Symbols for TBC1D32 Gene

  • C6orf171
  • C6orf170

Previous GeneCards Identifiers for TBC1D32 Gene

  • GC06M121401

Summaries for TBC1D32 Gene

Entrez Gene Summary for TBC1D32 Gene

  • This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for TBC1D32 Gene

TBC1D32 (TBC1 Domain Family, Member 32) is a Protein Coding gene.

UniProtKB/Swiss-Prot for TBC1D32 Gene

  • Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D32 Gene

Genomics for TBC1D32 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TBC1D32 Gene

Start:
121,079,494 bp from pter
End:
121,334,745 bp from pter
Size:
255,252 bases
Orientation:
Minus strand

Genomic View for TBC1D32 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBC1D32 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D32 Gene

No data available for Regulatory Elements for TBC1D32 Gene

Proteins for TBC1D32 Gene

  • Protein details for TBC1D32 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NH3-BROMI_HUMAN
    Recommended name:
    Protein broad-minded
    Protein Accession:
    Q96NH3
    Secondary Accessions:
    • Q5SZD6
    • Q5SZM6
    • Q6ZMY4
    • Q6ZUR7
    • Q8NB47

    Protein attributes for TBC1D32 Gene

    Size:
    1257 amino acids
    Molecular mass:
    144756 Da
    Quaternary structure:
    • Interacts with CDK20, which promotes CDK20 stability and function.
    SequenceCaution:
    • Sequence=BAB70925.1; Type=Frameshift; Positions=717; Evidence={ECO:0000305}; Sequence=BAC03694.1; Type=Frameshift; Positions=143; Evidence={ECO:0000305}; Sequence=BAC03694.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAC86152.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18591.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAI16051.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20000.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAM16339.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAM17813.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAM28224.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D32 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D32 Gene

Proteomics data for TBC1D32 Gene at MOPED

Post-translational modifications for TBC1D32 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D32 Gene

No data available for DME Specific Peptides for TBC1D32 Gene

Domains for TBC1D32 Gene

Protein Domains for TBC1D32 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96NH3

UniProtKB/Swiss-Prot:

BROMI_HUMAN :
  • Q96NH3
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D32: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for TBC1D32 Gene

Function for TBC1D32 Gene

Molecular function for TBC1D32 Gene

UniProtKB/Swiss-Prot Function: Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity).

Gene Ontology (GO) - Molecular Function for TBC1D32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TBC1D32: view
genes like me logo Genes that share phenotypes with TBC1D32: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TBC1D32 Gene

Localization for TBC1D32 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D32 Gene

Cytoplasm. Cell projection, cilium.

Gene Ontology (GO) - Cellular Components for TBC1D32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with TBC1D32: view

No data available for Subcellular locations from COMPARTMENTS for TBC1D32 Gene

Pathways for TBC1D32 Gene

SuperPathways for TBC1D32 Gene

No Data Available

Interacting Proteins for TBC1D32 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000381270%0d%0a9606.ENSP00000025008%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000381270 Q96NH3-BROMI_HUMAN for TBC1D32 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TBC1D32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IEA --
GO:0003406 retinal pigment epithelium development IEA --
GO:0007224 smoothened signaling pathway --
GO:0021915 neural tube development --
GO:0042733 embryonic digit morphogenesis IEA --
genes like me logo Genes that share ontologies with TBC1D32: view

No data available for Pathways by source for TBC1D32 Gene

Compounds for TBC1D32 Gene

(1) PharmGKB related drug/compound annotations for TBC1D32 Gene

Drug/compound Annotation
Bisphosphonates CA
genes like me logo Genes that share compounds with TBC1D32: view

Transcripts for TBC1D32 Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBC1D32

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TBC1D32
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D32 Gene

No ASD Table

Relevant External Links for TBC1D32 Gene

GeneLoc Exon Structure for
TBC1D32
ECgene alternative splicing isoforms for
TBC1D32

Expression for TBC1D32 Gene

mRNA expression in normal human tissues for TBC1D32 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TBC1D32 Gene

genes like me logo Genes that share expressions with TBC1D32: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D32 Gene

Orthologs for TBC1D32 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TBC1D32 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6H6orf170 35
  • 99.42 (n)
  • 98.81 (a)
TBC1D32 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D32 35
  • 89.77 (n)
  • 87.35 (a)
TBC1D32 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H6orf170 35
  • 90.29 (n)
  • 88.54 (a)
TBC1D32 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia D630037F22Rik 16
Tbc1d32 35
  • 84.37 (n)
  • 84.93 (a)
Tbc1d32 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D32 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D32 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves C6ORF170 35
  • 72.45 (n)
  • 66.88 (a)
TBC1D32 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D32 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2369 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5421 35
zebrafish
(Danio rerio)
Actinopterygii tbc1d32 35
  • 60.43 (n)
  • 57.38 (a)
tbc1d32 36
  • 54 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4407 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for TBC1D32:
  • A. gosspyii yeast (Ashbya 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TBC1D32 Gene

ENSEMBL:
Gene Tree for TBC1D32 (if available)
TreeFam:
Gene Tree for TBC1D32 (if available)

Paralogs for TBC1D32 Gene

No data available for Paralogs for TBC1D32 Gene

Variants for TBC1D32 Gene

Sequence variations from dbSNP and Humsavar for TBC1D32 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs17154 -- 121,188,605(-) TCCAG(G/T)TTTTA intron-variant
rs218868 -- 121,080,568(-) TTATT(A/C)TAGAA utr-variant-3-prime, nc-transcript-variant
rs228415 -- 121,167,844(+) tacaa(C/G)gaact intron-variant
rs367518 -- 121,094,874(+) tTCAA(A/T)TTTTT intron-variant
rs391331 -- 121,092,610(+) CTGGA(A/G)AAATC intron-variant

Relevant External Links for TBC1D32 Gene

HapMap Linkage Disequilibrium report
TBC1D32
Human Gene Mutation Database (HGMD)
TBC1D32

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TBC1D32 Gene

Disorders for TBC1D32 Gene

No disorders were found for TBC1D32 Gene.

No data available for UniProtKB/Swiss-Prot for TBC1D32 Gene

Publications for TBC1D32 Gene

  1. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction. (PMID: 20159594) Ko H.W. … Eggenschwiler J.T. (Dev. Cell 2010) 2 3
  4. Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. (PMID: 24285566) Adly N. … Alkuraya F.S. (Hum. Mutat. 2014) 2 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3

Products for TBC1D32 Gene

  • antibodies-online peptides for TBC1D32
  • antibodies-online antibodies for TBC1D32
  • antibodies-online kits for TBC1D32

Sources for TBC1D32 Gene

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