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TBC1D32 TBC1 domain family member 32 [ Homo sapiens (human) ]

Gene ID: 221322, updated on 15-Jun-2019

Summary

Official Symbol
TBC1D32provided by HGNC
Official Full Name
TBC1 domain family member 32provided by HGNC
Primary source
HGNC:HGNC:21485
See related
Ensembl:ENSG00000146350 MIM:615867
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BROMI; C6orf170; C6orf171
Summary
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]
Expression
Broad expression in testis (RPKM 1.8), skin (RPKM 0.8) and 23 other tissues See more
Orthologs

Genomic context

See TBC1D32 in Genome Data Viewer
Location:
6q22.31
Exon count:
45
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (121079494..121335384, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (121400627..121655646, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 6A1 pseudogene 3 Neighboring gene uncharacterized LOC105377977 Neighboring gene RNA, U6 small nuclear 1286, pseudogene Neighboring gene ribosomal protein S15a pseudogene 21

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30899, FLJ34235

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to cilium IEA
Inferred from Electronic Annotation
more info
 
retinal pigment epithelium development IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cilium IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein broad-minded
Names
broad-minded homolog

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_034203.1 RefSeqGene

    Range
    5001..260007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001367759.1NP_001354688.1  protein broad-minded isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL035593, AL139098, AL365508, AL589910, AL590225
  2. NM_001367760.1NP_001354689.1  protein broad-minded isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL035593, AL139098, AL365508, AL589910, AL590225
  3. NM_152730.6NP_689943.4  protein broad-minded isoform 1

    See identical proteins and their annotated locations for NP_689943.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the supported protein.
    Source sequence(s)
    AK055461, AK091554, AK126259, AK131446, AL035593, AL589910, BX112581
    Consensus CDS
    CCDS43501.1
    UniProtKB/Swiss-Prot
    Q96NH3
    Related
    ENSP00000381270.2, ENST00000398212.7
    Conserved Domains (1) summary
    pfam14961
    Location:121254
    BROMI; Broad-minded protein

RNA

  1. NR_104452.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in both the 5' and 3' regions, and includes four additional exons in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK131446, AL035593, AL365508, AL589910, BX112581, DB084115
    Related
    ENST00000464622.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    121079494..121335384 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535571.3XP_011533873.1  protein broad-minded isoform X1

    See identical proteins and their annotated locations for XP_011533873.1

    Conserved Domains (1) summary
    pfam14961
    Location:121316
    BROMI; Broad-minded protein
  2. XM_017010398.2XP_016865887.1  protein broad-minded isoform X2

    UniProtKB/Swiss-Prot
    Q96NH3
    Conserved Domains (1) summary
    pfam14961
    Location:121295
    BROMI; Broad-minded protein
  3. XM_017010400.1XP_016865889.1  protein broad-minded isoform X4

    Conserved Domains (1) summary
    pfam14961
    Location:121274
    BROMI; Broad-minded protein
  4. XM_017010401.1XP_016865890.1  protein broad-minded isoform X5

    UniProtKB/Swiss-Prot
    Q96NH3
    Conserved Domains (1) summary
    pfam14961
    Location:121254
    BROMI; Broad-minded protein
  5. XM_017010399.1XP_016865888.1  protein broad-minded isoform X3

    Conserved Domains (1) summary
    pfam14961
    Location:121275
    BROMI; Broad-minded protein
  6. XM_011535570.1XP_011533872.1  protein broad-minded isoform X1

    See identical proteins and their annotated locations for XP_011533872.1

    Conserved Domains (1) summary
    pfam14961
    Location:121316
    BROMI; Broad-minded protein
  7. XM_011535569.2XP_011533871.1  protein broad-minded isoform X1

    See identical proteins and their annotated locations for XP_011533871.1

    Conserved Domains (1) summary
    pfam14961
    Location:121316
    BROMI; Broad-minded protein
  8. XM_011535574.1XP_011533876.1  protein broad-minded isoform X6

    Conserved Domains (1) summary
    pfam14961
    Location:11207
    BROMI; Broad-minded protein
  9. XM_011535580.2XP_011533882.1  protein broad-minded isoform X11

    See identical proteins and their annotated locations for XP_011533882.1

    Conserved Domains (1) summary
    pfam14961
    Location:2923
    BROMI; Broad-minded protein
  10. XM_017010404.1XP_016865893.1  protein broad-minded isoform X14

  11. XM_011535576.2XP_011533878.1  protein broad-minded isoform X8

    Conserved Domains (1) summary
    pfam14961
    Location:121061
    BROMI; Broad-minded protein
  12. XM_017010402.2XP_016865891.1  protein broad-minded isoform X9

  13. XM_011535575.3XP_011533877.1  protein broad-minded isoform X7

    Conserved Domains (1) summary
    pfam14961
    Location:121056
    BROMI; Broad-minded protein
  14. XM_017010403.1XP_016865892.1  protein broad-minded isoform X10

  15. XM_011535582.3XP_011533884.1  protein broad-minded isoform X12

    Conserved Domains (1) summary
    pfam14961
    Location:12857
    BROMI; Broad-minded protein
  16. XM_011535585.2XP_011533887.1  protein broad-minded isoform X13

    Conserved Domains (1) summary
    pfam14961
    Location:12792
    BROMI; Broad-minded protein
  17. XM_017010405.1XP_016865894.1  protein broad-minded isoform X15

    Conserved Domains (1) summary
    pfam14961
    Location:12656
    BROMI; Broad-minded protein

RNA

  1. XR_001743231.1 RNA Sequence

  2. XR_001743232.2 RNA Sequence

  3. XR_942346.2 RNA Sequence

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