Human Gene TBC1D32 (ENST00000398212.7_9) from GENCODE V47lift37
  Description: TBC1 domain family member 32, transcript variant 1 (from RefSeq NM_152730.6)
Gencode Transcript: ENST00000398212.7_9
Gencode Gene: ENSG00000146350.14_16
Transcript (Including UTRs)
   Position: hg19 chr6:121,400,640-121,655,626 Size: 254,987 Total Exon Count: 32 Strand: -
Coding Region
   Position: hg19 chr6:121,401,917-121,655,576 Size: 253,660 Coding Exon Count: 32 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:121,400,640-121,655,626)mRNA (may differ from genome)Protein (1257 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
MGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BROMI_HUMAN
DESCRIPTION: RecName: Full=Protein broad-minded;
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).
SUBUNIT: Interacts with CDK20, which promotes CDK20 stability and function (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cell projection, cilium (By similarity).
SIMILARITY: Contains 1 Rab-GAP TBC domain.
CAUTION: The Rab-GAP TBC domain appears to be inactive, probably due to a lack of the essential Arg and Gln in the catalytic finger motifs.
SEQUENCE CAUTION: Sequence=BAB70925.1; Type=Frameshift; Positions=717; Sequence=BAC03694.1; Type=Frameshift; Positions=143; Sequence=BAC03694.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAC86152.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD18591.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=CAI16051.2; Type=Erroneous gene model prediction; Sequence=CAI20000.2; Type=Erroneous gene model prediction; Sequence=CAM16339.1; Type=Erroneous gene model prediction; Sequence=CAM17813.1; Type=Erroneous gene model prediction; Sequence=CAM28224.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.03 RPKM in Testis
Total median expression: 49.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.6050-0.192 Picture PostScript Text
3' UTR -326.201277-0.255 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000195 - Rab-GTPase-TBC_dom
IPR005373 - UPF0183

Pfam Domains:
PF14961 - Broad-minded protein

SCOP Domains:
48371 - ARM repeat
47923 - Ypt/Rab-GAP domain of gyp1p

ModBase Predicted Comparative 3D Structure on Q96NH3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0002088 lens development in camera-type eye
GO:0003406 retinal pigment epithelium development
GO:0007224 smoothened signaling pathway
GO:0007275 multicellular organism development
GO:0007368 determination of left/right symmetry
GO:0007507 heart development
GO:0021915 neural tube development
GO:0042733 embryonic digit morphogenesis
GO:0043010 camera-type eye development
GO:0060041 retina development in camera-type eye
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:0061512 protein localization to cilium
GO:1905515 non-motile cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005929 cilium
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK131446 - Homo sapiens cDNA FLJ16586 fis, clone TESTI4000137.
AK091554 - Homo sapiens cDNA FLJ34235 fis, clone FCBBF3026651.
AX747057 - Sequence 582 from Patent EP1308459.
AK126259 - Homo sapiens cDNA FLJ44271 fis, clone TLIVE2009541.
AK055461 - Homo sapiens cDNA FLJ30899 fis, clone FEBRA2005726.
AK125385 - Homo sapiens cDNA FLJ43395 fis, clone OCBBF2008770.
JD230134 - Sequence 211158 from Patent EP1572962.
JD282016 - Sequence 263040 from Patent EP1572962.
JD561447 - Sequence 542471 from Patent EP1572962.
JD066826 - Sequence 47850 from Patent EP1572962.
JD243329 - Sequence 224353 from Patent EP1572962.
JD136284 - Sequence 117308 from Patent EP1572962.
JD194921 - Sequence 175945 from Patent EP1572962.
JD136283 - Sequence 117307 from Patent EP1572962.
JD537425 - Sequence 518449 from Patent EP1572962.
JD194920 - Sequence 175944 from Patent EP1572962.
JD313531 - Sequence 294555 from Patent EP1572962.
JD419586 - Sequence 400610 from Patent EP1572962.
JD208520 - Sequence 189544 from Patent EP1572962.
JD158685 - Sequence 139709 from Patent EP1572962.
JD386053 - Sequence 367077 from Patent EP1572962.
JD522420 - Sequence 503444 from Patent EP1572962.
JD351460 - Sequence 332484 from Patent EP1572962.
JD223923 - Sequence 204947 from Patent EP1572962.
JD223922 - Sequence 204946 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BROMI, BROMI_HUMAN, C6orf170, C6orf171, ENST00000398212.1, ENST00000398212.2, ENST00000398212.3, ENST00000398212.4, ENST00000398212.5, ENST00000398212.6, NM_152730, Q5SZD6, Q5SZM6, Q6ZMY4, Q6ZUR7, Q8NB47, Q96NH3, uc318zow.1, uc318zow.2
UCSC ID: ENST00000398212.7_9
RefSeq Accession: NM_152730.6
Protein: Q96NH3 (aka BROMI_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.