Reading the record for TBC1D1 from HGNC, NCBI Gene and Ensembl.Still reading. A first read of a gene can take a while; this page waits up to 115 seconds for it, and its scripts then bring in the page, or a line saying what did not arrive.
The full name, the identifiers, the location and the notes from the sources arrive with the record. Nothing is filled in ahead of it.
Order door
The door to order for TBC1D1 opens with the record, which decides which product it carries. The order page itself is open now.
Cytogenetic band 4p14NCBI: 4:37,891,084-38,139,173 on the plus strand, GRCh38.p14 (GCF_000001405.40), sequence NC_000004.12, annotation GCF_000001405.40-RS_2025_08 of 2025-08-01Ensembl: 4:37,890,673-38,139,175 on the plus strand, GRCh38.p14 (GCA_000001405.29), release 116Coordinates are one-based with both ends included, as each source reports them.
TBC1D1 is the founding member of a family of proteins sharing a 180- to…
NCBI Gene summary
Ready in a moment
Reading NCBI Gene and UniProt.Still reading. A first read of a gene can take a while; this page waits up to 30 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.
02 / Transcripts and isoforms
The RNA a design targets
Reading NCBI Datasets and Ensembl.Still reading. A first read of a gene can take a while; this page waits up to 80 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
Reading NCBI Datasets and Ensembl.Still reading. A first read of a gene can take a while; this page waits up to 80 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.
03 / Expression by tissue
Where TBC1D1 is expressed
Reading GTEx and the Human Protein Atlas.Still reading. A first read of a gene can take a while; this page waits up to 80 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
04 / Protein
The protein TBC1D1 encodes
Reading UniProt, InterPro, AlphaFold DB and PDBe.Still reading. A first read of a gene can take a while; this page waits up to 80 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
05 / Interactions
Proteins STRING associates with TBC1D1
Reading STRING.Still reading. A first read of a gene can take a while; this page waits up to 50 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
06 / Pathways
Where TBC1D1 acts, as Reactome curates it
Reading UniProt and Reactome.Still reading. A first read of a gene can take a while; this page waits up to 60 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
07 / Disease associations
Diseases linked to TBC1D1
Reading Open Targets and ClinGen.Still reading. A first read of a gene can take a while; this page waits up to 105 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
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08 / Variants
Classified variants of TBC1D1
Reading ClinVar.Still reading. A first read of a gene can take a while; this page waits up to 60 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
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09 / Constraint
How much variation TBC1D1 tolerates
Reading gnomAD and Open Targets.Still reading. A first read of a gene can take a while; this page waits up to 45 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
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10 / Orthologs
The same gene in mouse, rat and human
Reading the Alliance, NCBI, Ensembl Compara and RGD.Still reading. A first read of a gene can take a while; this page waits up to 145 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
11 /MicroRNAs
MicroRNAs hosted within TBC1D1
Reading Ensembl and miRBase.Still reading. A first read of a gene can take a while; this page waits up to 110 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
12 / Long non-coding RNAs
Long non-coding RNAs at the TBC1D1 locus
Reading Ensembl.Still reading. A first read of a gene can take a while; this page waits up to 110 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
13 / Literature
Papers that mention TBC1D1
Reading Europe PMC.Still reading. A first read of a gene can take a while; this page waits up to 55 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
14 / Silencing this gene
From TBC1D1 to a sequence that silences it
The AUMsilence™ platform designs the sequences against the human transcripts on this page. Six decisions are yours before it does. What is written under each is AUM's guidance; the timings and the concentrations are in the usage guide below.
01
Choose the region
A knockdown oligonucleotide can sit in the 5' untranslated region, the coding sequence or the 3' untranslated region, and all three are used. The coding sequence and the 3' untranslated region are the usual first choices for an RNase H design; the 5' end near the start codon suits a steric block. The map above shows where each region sits on the isoforms it draws.
02
Cover the isoforms you mean
An exon every isoform carries silences the whole gene; an exon only some isoforms carry silences those and spares the rest. Decide which you want before a sequence is chosen, and check the reference transcript (MANE Select in human; RefSeq Select and Ensembl canonical in mouse and rat) is the one your cells express.
03
Think across species early
The orthologs panel says whether mouse and rat carry the same gene. Whether one oligonucleotide can serve two species is a sequence question, settled at design by matching the candidate against each transcript, not by the protein identity shown there.
04
Check expression in your model
A transcript that is not expressed in your cells cannot show knockdown. Confirm the gene is expressed in the cell type and condition you will use, from your own data or a reference atlas, before the order. The expression panel above gives GTEx's median per tissue for a human gene; for mouse and rat it says that no atlas is on this page yet.
05
Run the controls
A scramble control of the same chemistry, a positive control against a gene known to knock down in your cells, untreated cells, and a mock condition where a transfection reagent is used. Read knockdown at the RNA level first, then at the protein; the usage guide gives the timing and the concentrations to start from.
06
Pick the product
AUMsilence sdASO needs no transfection reagent and works in the cells that resist one. AUMsilence toASO is the transfection-optimised version of the same design, and AUMsiRNA™ is the siRNA route. The selection guide compares them.
For research use only. Not for use in diagnostic or therapeutic procedures.
Gene summary
TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
As NCBI Gene carries it, with no provenance bracket. NCBI disclaimer
May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity)
NCBI Gene summary · NCBI Gene annotation RS_2025_08 · read · NCBI Gene 23216Data from NCBI, provided as is; NCBI's policies and disclaimers apply.
UniProtKB function · 2026_03 · read · UniProt Q86TI0UniProt data are available under the Creative Commons Attribution 4.0 licence.
207 Open Targets disease associations; congenital anomaly of kidney and urinary tract first, at 0.45.
Open Targets
1,341 PubMed-indexed papers mention TBC1D1 at Europe PMC, newest first. Europe PMC ignores letter case, so the count also covers another species' symbol spelled with the same letters.
Europe PMC
54 GTEx tissues; the highest median in Uterus, 157 TPM.
GTEx
1 curated, 0 inferred Reactome pathways for Q86TI0 in human, v97.
Reactome
pLI below 0.0001 and LOEUF 0.845 in gnomAD v4 (GRCh38), on ENST00000261439.9.
gnomAD
No annotated microRNA lies within TBC1D1 in Ensembl release 116, on GRCh38.p14.
Ensembl · miRBase
1 long non-coding RNA gene overlaps TBC1D1 in Ensembl release 116, antisense, without a symbol.
The 25 highest-scoring STRING partners at or above a combined score of 0.4, of up to 25 asked for; RAB10, RAB8A, PRKAB1 lead.
STRING v12.0
1,168 residues, reviewed Q86TI0; 20 entries from the member databases this page shows along the chain; mean pLDDT 70.62; 1 PDB entry.
UniProt · InterPro · AlphaFold DB · PDBe
ClinVar: 324 records for TBC1D1, 17 pathogenic or likely pathogenic.
ClinVar
32 RefSeq and 42 Ensembl transcripts on GRCh38.p14; MANE Select NM_001396959.1.
NCBI Datasets · Ensembl
Placed on GRCh38.p14 (GCF_000001405.40). MANE Select marks the one transcript RefSeq and Ensembl agree is the reference for this gene.
RefSeq 32 transcripts
coding sequence, tall
untranslated region, thin
non-coding exon
intron, fixed width
Genomic strand: plus. Drawn 5' to 3', so exon 1 sits at the left here and at the lowest coordinate on the chromosome.
NM_001396959.1NM_001396959.1MANE Select
A window on one transcript
One pixel of the map above stands for several bases, and a block too short to see is drawn wider than its own scale, so the map chooses a region and the sequence here chooses the window. Click an exon on a row of the map, or drag across a row; then set the exact start and end below.
These controls are ready in a moment.
No transcript is chosen.
Once a window is chosen this panel shows its length, its G and C count as a percentage of that length, the letters it is made of, the exons it falls in, whether it crosses a junction, and its antisense strand.
Not listed, because the source places them on another assembly only: XM_054349390.1 (not placed on GRCh38.p14); XM_054349391.1 (not placed on GRCh38.p14); XM_054349392.1 (not placed on GRCh38.p14); XM_054349393.1 (not placed on GRCh38.p14); XM_054349394.1 (not placed on GRCh38.p14); XM_054349395.1 (not placed on GRCh38.p14); XM_054349396.1 (not placed on GRCh38.p14); XM_054349397.1 (not placed on GRCh38.p14); XM_054349398.1 (not placed on GRCh38.p14); XM_054349399.1 (not placed on GRCh38.p14); XM_054349400.1 (not placed on GRCh38.p14); XM_054349401.1 (not placed on GRCh38.p14); XM_054349402.1 (not placed on GRCh38.p14); XM_054349403.1 (not placed on GRCh38.p14); XM_054349404.1 (not placed on GRCh38.p14); XM_054349405.1 (not placed on GRCh38.p14); XM_054349406.1 (not placed on GRCh38.p14); XM_054349407.1 (not placed on GRCh38.p14); XM_054349408.1 (not placed on GRCh38.p14); XM_054349409.1 (not placed on GRCh38.p14); XM_054349410.1 (not placed on GRCh38.p14); XM_054349411.1 (not placed on GRCh38.p14); XM_054349412.1 (not placed on GRCh38.p14); XM_054349413.1 (not placed on GRCh38.p14).
NCBI Datasets, RefSeq transcripts · NCBI Datasets 18.38.0; GCF_000001405.40-RS_2025_08 · read · NCBI Gene 23216Data from NCBI, provided as is; NCBI's policies and disclaimers apply.
Ensembl 42 transcripts
A window on one transcript
One pixel of the map above stands for several bases, and a block too short to see is drawn wider than its own scale, so the map chooses a region and the sequence here chooses the window. Click an exon on a row of the map, or drag across a row; then set the exact start and end below.
These controls are ready in a moment.
No transcript is chosen.
Once a window is chosen this panel shows its length, its G and C count as a percentage of that length, the letters it is made of, the exons it falls in, whether it crosses a junction, and its antisense strand.
Lengths are spliced lengths, as each source states them. Exon ranks follow the strand: on a minus-strand gene exon 1 has the highest genomic coordinate. Reference assembly for human: GRCh38.
XM_011513670.4XM_011513670.4
XM_011513659.3XM_011513659.3
XM_011513660.4XM_011513660.4
XM_005262646.4XM_005262646.4
XM_011513662.4XM_011513662.4
XM_011513663.4XM_011513663.4
XM_011513664.4XM_011513664.4
XM_047449888.1XM_047449888.1
XM_047449890.1XM_047449890.1
XM_017007918.3XM_017007918.3
XM_017007919.3XM_017007919.3
XM_047449889.1XM_047449889.1
XM_011513665.4XM_011513665.4
XM_011513666.4XM_011513666.4
XM_017007920.3XM_017007920.3
NM_015173.4NM_015173.4
NM_001253912.2NM_001253912.2
XM_047449897.1XM_047449897.1
XM_047449891.1XM_047449891.1
XM_005262649.4XM_005262649.4
XM_047449892.1XM_047449892.1
XM_047449893.1XM_047449893.1
XM_047449894.1XM_047449894.1
XM_047449895.1XM_047449895.1
XM_047449896.1XM_047449896.1
XM_017007921.3XM_017007921.3
NM_001253913.2NM_001253913.2
XM_047449898.1XM_047449898.1
NM_001253914.2NM_001253914.2
XM_011513668.3XM_011513668.3
NM_001253915.2NM_001253915.2
scale
Drawn 5' to 3' from each transcript's exons as placed on the reference assembly; exon 1 is the 5' exon on the transcript's own strand. Exon blocks are to scale with each other, except 6 blocks too short to see, widened to a fixed few pixels; introns are drawn at one fixed width whatever their length, so the map is not to scale along the chromosome. Numbers are exon ranks along the strand; a rank is omitted where the exon is too narrow to carry it.
Drawn 5' to 3' from each transcript's exons as placed on the reference assembly; exon 1 is the 5' exon on the transcript's own strand. Exon blocks are to scale with each other, except 9 blocks too short to see, widened to a fixed few pixels; introns are drawn at one fixed width whatever their length, so the map is not to scale along the chromosome. Numbers are exon ranks along the strand; a rank is omitted where the exon is too narrow to carry it.
Mouse Tbc1d1 by 3 of 3 votes; rat Tbc1d1 by 3 of 3 votes. RGD is not answering, so the ortholog list could not be shown. Try again later. Reference deda2e84-b6c.