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

Gene ID: 221322, updated on 11-Apr-2024

Summary

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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; AllianceGenome:HGNC:21485
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
mouse all
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Genomic context

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See TBC1D32 in Genome Data Viewer
Location:
6q22.31
Exon count:
43
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (121079494..121334729, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (122266619..122522031, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (121400640..121655875, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene COX6A1 pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:121251634-121252404 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:121252405-121253175 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:121253176-121253945 Neighboring gene uncharacterized LOC105377977 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_88787 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_88931 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89007 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89060 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89073 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89101 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25019 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:121697099-121697600 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:121697601-121698100 Neighboring gene RNA, U6 small nuclear 1286, pseudogene Neighboring gene ribosomal protein S15a pseudogene 21

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
  • 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. Confirming TBC1D32-related ciliopathy in humans. Alsahan N, et al. Am J Med Genet A, 2020 Aug. PMID 32573025
  2. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. Shaheen R, et al. Am J Hum Genet, 2019 Apr 4. PMID 30905400, Free PMC Article
  3. Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Adly N, et al. Hum Mutat, 2014 Jan. PMID 24285566
  4. BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1. Satoda Y, et al. Mol Biol Cell, 2022 Aug 1. PMID 35609210, Free PMC Article
  5. Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction. Ko HW, et al. Dev Cell, 2010 Feb 16. PMID 20159594, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
    Title: TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
  2. BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
    Title: BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
  3. Confirming TBC1D32-related ciliopathy in humans.
    Title: Confirming TBC1D32-related ciliopathy in humans.
  4. Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
    Title: Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
  5. study identified 2 cases with a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX; the autozygome of each index harbored a single truncating variant and the affected genes (SCLT1 and TBC1D32/C6orf170) have roles in centrosomal biology and ciliogenesis; findings suggest a role of SCLT1 and TBC1D32 in ciliopathy pathogenesis
    Title: Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
  6. Studies in mouse and zebrafish implicate that TBC1D32 is involved in sonic hedgehog signaling.
    Title: Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction.
  7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ30899, FLJ34235

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
protein broad-minded
Names
broad-minded homolog

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.

Genomic

  1. NG_034203.1 RefSeqGene

    Range
    5021..260007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL035593, AL139098, AL365508, AL589910, AL590225
    Consensus CDS
    CCDS93996.1

  2. NM_001367760.1 → NP_001354689.1  protein broad-minded isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL035593, AL139098, AL365508, AL589910, AL590225
    Consensus CDS
    CCDS93996.1
    Related
    ENSP00000275159.6, ENST00000275159.11

  3. NM_152730.6 → NP_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
    Q5SZD6, Q5SZM6, Q6ZMY4, Q6ZUR7, Q8NB47, Q96NH3
    Related
    ENSP00000381270.2, ENST00000398212.7
    Conserved Domains (1) summary
    pfam14961
    Location:12 → 1254
    BROMI; Broad-minded protein

RNA

  1. NR_104452.2 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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    121079494..121334729 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418311.1 → XP_047274267.1  protein broad-minded isoform X5

  2. XM_011535570.2 → XP_011533872.1  protein broad-minded isoform X1

    See identical proteins and their annotated locations for XP_011533872.1

    Conserved Domains (1) summary
    pfam14961
    Location:12 → 1316
    BROMI; Broad-minded protein

  3. XM_017010398.3 → XP_016865887.1  protein broad-minded isoform X2

    UniProtKB/Swiss-Prot
    Q96NH3
    Conserved Domains (1) summary
    pfam14961
    Location:12 → 1295
    BROMI; Broad-minded protein

  4. XM_011535571.4 → XP_011533873.1  protein broad-minded isoform X1

    See identical proteins and their annotated locations for XP_011533873.1

    Conserved Domains (1) summary
    pfam14961
    Location:12 → 1316
    BROMI; Broad-minded protein

  5. XM_047418310.1 → XP_047274266.1  protein broad-minded isoform X4

  6. XM_047418309.1 → XP_047274265.1  protein broad-minded isoform X3

  7. XM_011535574.2 → XP_011533876.1  protein broad-minded isoform X7

    Conserved Domains (1) summary
    pfam14961
    Location:1 → 1207
    BROMI; Broad-minded protein

  8. XM_011535580.3 → XP_011533882.1  protein broad-minded isoform X13

    See identical proteins and their annotated locations for XP_011533882.1

    Conserved Domains (1) summary
    pfam14961
    Location:2 → 923
    BROMI; Broad-minded protein

  9. XM_017010404.1 → XP_016865893.1  protein broad-minded isoform X16

  10. XM_047418312.1 → XP_047274268.1  protein broad-minded isoform X6

  11. XM_047418317.1 → XP_047274273.1  protein broad-minded isoform X11

  12. XM_017010402.3 → XP_016865891.1  protein broad-minded isoform X11

  13. XM_047418314.1 → XP_047274270.1  protein broad-minded isoform X9

  14. XM_047418316.1 → XP_047274272.1  protein broad-minded isoform X10

  15. XM_047418315.1 → XP_047274271.1  protein broad-minded isoform X10

  16. XM_047418313.1 → XP_047274269.1  protein broad-minded isoform X8

  17. XM_017010403.2 → XP_016865892.1  protein broad-minded isoform X12

  18. XM_047418318.1 → XP_047274274.1  protein broad-minded isoform X14

  19. XM_011535585.3 → XP_011533887.1  protein broad-minded isoform X15

    Conserved Domains (1) summary
    pfam14961
    Location:12 → 792
    BROMI; Broad-minded protein

  20. XM_047418319.1 → XP_047274275.1  protein broad-minded isoform X17

RNA

  1. XR_942346.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    122266619..122522031 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354531.1 → XP_054210506.1  protein broad-minded isoform X2

  2. XM_054354530.1 → XP_054210505.1  protein broad-minded isoform X1

  3. XM_054354534.1 → XP_054210509.1  protein broad-minded isoform X5

  4. XM_054354529.1 → XP_054210504.1  protein broad-minded isoform X1

  5. XM_054354533.1 → XP_054210508.1  protein broad-minded isoform X4

  6. XM_054354532.1 → XP_054210507.1  protein broad-minded isoform X3

  7. XM_054354536.1 → XP_054210511.1  protein broad-minded isoform X7

  8. XM_054354544.1 → XP_054210519.1  protein broad-minded isoform X13

  9. XM_054354547.1 → XP_054210522.1  protein broad-minded isoform X16

  10. XM_054354535.1 → XP_054210510.1  protein broad-minded isoform X6

  11. XM_054354542.1 → XP_054210517.1  protein broad-minded isoform X11

  12. XM_054354541.1 → XP_054210516.1  protein broad-minded isoform X11

  13. XM_054354538.1 → XP_054210513.1  protein broad-minded isoform X9

  14. XM_054354540.1 → XP_054210515.1  protein broad-minded isoform X10

  15. XM_054354539.1 → XP_054210514.1  protein broad-minded isoform X10

  16. XM_054354537.1 → XP_054210512.1  protein broad-minded isoform X8

  17. XM_054354543.1 → XP_054210518.1  protein broad-minded isoform X12

  18. XM_054354545.1 → XP_054210520.1  protein broad-minded isoform X14

  19. XM_054354546.1 → XP_054210521.1  protein broad-minded isoform X15

  20. XM_054354548.1 → XP_054210523.1  protein broad-minded isoform X17

RNA

  1. XR_008487277.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96NH3.4 GenPept UniProtKB/Swiss-Prot:Q96NH3

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