TAF1A
geneOn this page
Also known as TAFI48SL1
Summary
TAF1A (TATA-box binding protein associated factor, RNA polymerase I subunit A, HGNC:11532) is a protein-coding gene on chromosome 1q41, encoding TATA box-binding protein-associated factor RNA polymerase I subunit A (Q15573). Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. It is a selective cancer dependency (DepMap: 50.4% of cell lines).
This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.
Source: NCBI Gene 9015 — RefSeq curated summary.
At a glance
- Gene–disease (curated): familial isolated dilated cardiomyopathy (Supportive, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 66 total
- Phenotypes (HPO): 13
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 50.4% of screened cell lines
- MANE Select transcript:
NM_005681
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11532 |
| Approved symbol | TAF1A |
| Name | TATA-box binding protein associated factor, RNA polymerase I subunit A |
| Location | 1q41 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TAFI48, SL1 |
| Ensembl gene | ENSG00000143498 |
| Ensembl biotype | protein_coding |
| OMIM | 604903 |
| Entrez | 9015 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000350027, ENST00000352967, ENST00000366890, ENST00000391883, ENST00000465263, ENST00000480065, ENST00000487009, ENST00000925618, ENST00000925619, ENST00000925620, ENST00000972077, ENST00000972078
RefSeq mRNA: 3 — MANE Select: NM_005681
NM_001201536, NM_005681, NM_139352
CCDS: CCDS1531, CCDS1532
Canonical transcript exons
ENST00000352967 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001916486 | 222558312 | 222558772 |
| ENSE00002277093 | 222589727 | 222589933 |
| ENSE00002335396 | 222563173 | 222563296 |
| ENSE00002378957 | 222561364 | 222561518 |
| ENSE00002704782 | 222564059 | 222564125 |
| ENSE00003471270 | 222584128 | 222584297 |
| ENSE00003473559 | 222569510 | 222569668 |
| ENSE00003578699 | 222570535 | 222570665 |
| ENSE00003600844 | 222579759 | 222579872 |
| ENSE00003603881 | 222577445 | 222577643 |
| ENSE00003686172 | 222588443 | 222588565 |
Expression profiles
Bgee: expression breadth ubiquitous, 220 present calls, max score 94.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.2001 / max 199.4382, expressed in 1514 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 17605 | 2.6444 | 1220 |
| 17604 | 1.6353 | 934 |
| 17602 | 0.5122 | 276 |
| 17603 | 0.4082 | 198 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 94.99 | gold quality |
| secondary oocyte | CL:0000655 | 94.49 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.66 | gold quality |
| ventricular zone | UBERON:0003053 | 85.44 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.05 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.70 | gold quality |
| cortical plate | UBERON:0005343 | 82.12 | gold quality |
| embryo | UBERON:0000922 | 81.98 | gold quality |
| calcaneal tendon | UBERON:0003701 | 81.43 | gold quality |
| adrenal tissue | UBERON:0018303 | 78.46 | gold quality |
| monocyte | CL:0000576 | 77.60 | gold quality |
| leukocyte | CL:0000738 | 77.25 | gold quality |
| mononuclear cell | CL:0000842 | 77.16 | gold quality |
| lymph node | UBERON:0000029 | 76.95 | gold quality |
| stromal cell of endometrium | CL:0002255 | 76.65 | gold quality |
| islet of Langerhans | UBERON:0000006 | 76.11 | gold quality |
| right coronary artery | UBERON:0001625 | 75.78 | gold quality |
| rectum | UBERON:0001052 | 75.58 | gold quality |
| left ovary | UBERON:0002119 | 75.52 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 75.39 | gold quality |
| vermiform appendix | UBERON:0001154 | 75.35 | gold quality |
| ovary | UBERON:0000992 | 74.99 | gold quality |
| right ovary | UBERON:0002118 | 74.96 | gold quality |
| granulocyte | CL:0000094 | 74.87 | gold quality |
| left coronary artery | UBERON:0001626 | 74.58 | gold quality |
| endocervix | UBERON:0000458 | 74.39 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 73.92 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 73.89 | gold quality |
| gall bladder | UBERON:0002110 | 73.76 | gold quality |
| body of uterus | UBERON:0009853 | 73.58 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.71 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NPM1, TBP, UBTF
miRNA regulators (miRDB)
35 targeting TAF1A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-449C-5P | 99.78 | 67.63 | 1168 |
| HSA-MIR-34B-5P | 99.78 | 67.56 | 1175 |
| HSA-MIR-187-5P | 99.74 | 70.26 | 1404 |
| HSA-MIR-2682-5P | 99.73 | 67.38 | 1055 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-379-3P | 99.69 | 69.60 | 1524 |
| HSA-MIR-411-3P | 99.69 | 69.63 | 1524 |
| HSA-MIR-892A | 99.54 | 68.16 | 1141 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 50.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- This study identifies the first nuclear import sequence within the TBP-Associated Factor subunits of Selectivity Factor 1. (PMID:15113842)
- The authors demonstrate the interaction of both RNA polymerase I and III with hepatitis delta virus RNA, both in vitro and in human cells. (PMID:19246067)
- TNFAIP8 regulates cisplatin resistance through TAF-Ialpha and promotes malignant progression of esophageal cancer. (PMID:32432789)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | taf1a | ENSDARG00000052471 |
| mus_musculus | Taf1a | ENSMUSG00000072258 |
| rattus_norvegicus | Taf1a | ENSRNOG00000061139 |
Protein
Protein identifiers
TATA box-binding protein-associated factor RNA polymerase I subunit A — Q15573 (reviewed: Q15573)
Alternative names: RNA polymerase I-specific TBP-associated factor 48 kDa, TATA box-binding protein-associated factor 1A, Transcription factor SL1, Transcription initiation factor SL1/TIF-IB subunit A
All UniProt accessions (2): Q15573, Q5JRA7
UniProt curated annotations — full annotation on UniProt →
Function. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits.
Subunit / interactions. Component of the transcription factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B, TAF1C and TAF1D. In the complex interacts directly with TBP, TAF1A and TAF1B. Interaction of the SL1/TIF-IB subunits with TBP excludes interaction of TBP with the transcription factor IID (TFIID) subunits. Interacts with UBFT. Interacts with CEBPA (isoform 1 and isoform 4). Part of Pol I pre-initiation complex (PIC), in which Pol I core assembles with RRN3 and promoter-bound UTBF and SL1/TIF-IB complex.
Subcellular location. Nucleus. Nucleolus.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15573-1 | 1 | yes |
| Q15573-2 | 2 |
RefSeq proteins (3): NP_001188465, NP_005672, NP_647603 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016629 | RNA_pol_I_TAF1A/TAFI48_chr | Family |
| IPR039495 | TAF1A | Family |
| IPR052669 | SL1/TIF-IB_Component | Family |
Pfam: PF14929
UniProt features (3 total): chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15573-F1 | 86.29 | 0.66 |
Function
Pathways and Gene Ontology
Reactome pathways
12 pathways
| ID | Pathway |
|---|---|
| R-HSA-427359 | SIRT1 negatively regulates rRNA expression |
| R-HSA-427413 | NoRC negatively regulates rRNA expression |
| R-HSA-5250924 | B-WICH complex positively regulates rRNA expression |
| R-HSA-73762 | RNA Polymerase I Transcription Initiation |
| R-HSA-73772 | RNA Polymerase I Promoter Escape |
| R-HSA-73863 | RNA Polymerase I Transcription Termination |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-5250913 | Positive epigenetic regulation of rRNA expression |
| R-HSA-5250941 | Negative epigenetic regulation of rRNA expression |
| R-HSA-73854 | RNA Polymerase I Promoter Clearance |
| R-HSA-73864 | RNA Polymerase I Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 122 (showing top):
REACTOME_RNA_POLYMERASE_I_TRANSCRIPTION_INITIATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, WEI_MYCN_TARGETS_WITH_E_BOX, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS, MODULE_124, BROWNE_HCMV_INFECTION_14HR_UP, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, CHEN_HOXA5_TARGETS_9HR_UP, GOCC_NUCLEOLUS, TOOKER_GEMCITABINE_RESISTANCE_DN, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_I, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_6
GO Biological Process (2): transcription by RNA polymerase I (GO:0006360), transcription by RNA polymerase II (GO:0006366)
GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), RNA polymerase transcription factor SL1 complex (GO:0005668), microtubule cytoskeleton (GO:0015630), RNA polymerase I transcription regulator complex (GO:0000120), nucleus (GO:0005634), nucleolus (GO:0005730)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Negative epigenetic regulation of rRNA expression | 2 |
| RNA Polymerase I Promoter Clearance | 2 |
| RNA Polymerase I Transcription | 2 |
| Gene expression (Transcription) | 2 |
| Epigenetic regulation of gene expression | 2 |
| Positive epigenetic regulation of rRNA expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| nuclear lumen | 2 |
| nucleic acid binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| RNA polymerase I transcription regulator complex | 1 |
| cytoskeleton | 1 |
| transcription regulator complex | 1 |
| nucleolus | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1192 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TAF1A | TAF1B | Q53T94 | 999 |
| TAF1A | TAF1C | Q15572 | 999 |
| TAF1A | TAF1D | Q9H5J8 | 996 |
| TAF1A | TBP | P20226 | 969 |
| TAF1A | POLR1E | Q9GZS1 | 944 |
| TAF1A | POLR1G | O15446 | 922 |
| TAF1A | UBTF | P17480 | 900 |
| TAF1A | POLI | Q9UNA4 | 898 |
| TAF1A | RRN3 | Q9NYV6 | 870 |
| TAF1A | TAF1 | P21675 | 699 |
| TAF1A | SNAPC3 | Q92966 | 681 |
| TAF1A | TAF12 | Q16514 | 669 |
| TAF1A | SNAPC4 | Q5SXM2 | 669 |
| TAF1A | SNAPC1 | Q16533 | 650 |
| TAF1A | SNAPC2 | Q13487 | 650 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EAF1 | ELL2 | psi-mi:“MI:0914”(association) | 0.840 |
| TSG101 | VPS37C | psi-mi:“MI:0914”(association) | 0.780 |
| TAF1A | TBP | psi-mi:“MI:0914”(association) | 0.740 |
| TBP | TAF1A | psi-mi:“MI:0915”(physical association) | 0.740 |
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| TAF1B | TAF1A | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| NKAPD1 | TAF1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM44 | ODAD3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L3 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL8 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| TAF1A | TAF1C | psi-mi:“MI:0914”(association) | 0.530 |
| TAF1A | SET | psi-mi:“MI:0915”(physical association) | 0.520 |
| SET | TAF1A | psi-mi:“MI:0915”(physical association) | 0.520 |
| TAF1A | JMJD6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Wdr5 | MGA | psi-mi:“MI:0914”(association) | 0.350 |
| TBP | DYRK1A | psi-mi:“MI:0914”(association) | 0.350 |
| Kif15 | CROCC | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (114): C11orf57 (Two-hybrid), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1A (Affinity Capture-MS)
ESM2 similar proteins: A1L1K3, A5A6J9, A6H6E9, B0BF33, D3ZSP7, O14879, O88196, P09913, P09914, P97357, Q14AT2, Q14D04, Q15573, Q32NR4, Q3B7U2, Q4R6I5, Q4R6M4, Q4R7V1, Q4V7F0, Q5H9U9, Q5PQQ9, Q5PQS3, Q5U2X2, Q5XIR8, Q5ZKK3, Q5ZLS8, Q60462, Q64112, Q64282, Q64345, Q6AYP3, Q6IQY5, Q7Z3E5, Q80VM3, Q86VD1, Q8C6S9, Q8CHY7, Q8IYW2, Q8K2A7, Q8NA56
Diamond homologs: P97357, Q15573, Q3B7U2
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TAF1A | “form complex” | “SL1 complex” | binding |
| TAF1A | “form complex” | “SAGA complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 82 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Selenocysteine synthesis | 11 | 23.2× | 1e-10 |
| Negative epigenetic regulation of rRNA expression | 5 | 22.8× | 3e-05 |
| Peptide chain elongation | 10 | 22.3× | 6e-10 |
| Viral mRNA Translation | 10 | 22.3× | 6e-10 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 10 | 22.0× | 6e-10 |
| Eukaryotic Translation Termination | 10 | 21.1× | 8e-10 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 10 | 20.6× | 8e-10 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 10 | 20.6× | 8e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 11 | 28.3× | 6e-11 |
| translation | 12 | 17.1× | 9e-10 |
| rRNA processing | 8 | 15.7× | 6e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1519 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:222558677:CAATA:C | donor_gain | 1.0000 |
| 1:222561359:TGTA:T | donor_loss | 1.0000 |
| 1:222561360:GTAC:G | donor_loss | 1.0000 |
| 1:222561420:T:TA | donor_gain | 1.0000 |
| 1:222561514:GGTTT:G | acceptor_gain | 1.0000 |
| 1:222561515:GTTT:G | acceptor_gain | 1.0000 |
| 1:222561516:TTT:T | acceptor_gain | 1.0000 |
| 1:222561517:TT:T | acceptor_gain | 1.0000 |
| 1:222561519:C:CC | acceptor_gain | 1.0000 |
| 1:222563297:C:CC | acceptor_gain | 1.0000 |
| 1:222569524:T:C | donor_gain | 1.0000 |
| 1:222569667:ATCT:A | acceptor_loss | 1.0000 |
| 1:222569668:TC:T | acceptor_loss | 1.0000 |
| 1:222569669:C:CC | acceptor_gain | 1.0000 |
| 1:222569669:CT:C | acceptor_loss | 1.0000 |
| 1:222570530:CTT:C | donor_loss | 1.0000 |
| 1:222570531:TTA:T | donor_loss | 1.0000 |
| 1:222570532:TACTT:T | donor_loss | 1.0000 |
| 1:222570533:A:AC | donor_gain | 1.0000 |
| 1:222570533:ACTT:A | donor_gain | 1.0000 |
| 1:222570534:C:CA | donor_gain | 1.0000 |
| 1:222570534:CT:C | donor_gain | 1.0000 |
| 1:222570534:CTT:C | donor_gain | 1.0000 |
| 1:222570534:CTTC:C | donor_gain | 1.0000 |
| 1:222570534:CTTCT:C | donor_gain | 1.0000 |
| 1:222570661:CTTAT:C | acceptor_gain | 1.0000 |
| 1:222570662:TTAT:T | acceptor_gain | 1.0000 |
| 1:222570663:TAT:T | acceptor_gain | 1.0000 |
| 1:222570664:ATCTG:A | acceptor_loss | 1.0000 |
| 1:222570665:TC:T | acceptor_loss | 1.0000 |
AlphaMissense
2999 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:222561469:A:G | W379R | 0.994 |
| 1:222561469:A:T | W379R | 0.994 |
| 1:222563213:A:G | W349R | 0.991 |
| 1:222563213:A:T | W349R | 0.991 |
| 1:222569580:G:T | A275D | 0.988 |
| 1:222570564:A:G | W236R | 0.988 |
| 1:222570564:A:T | W236R | 0.988 |
| 1:222561479:C:A | R375S | 0.987 |
| 1:222561479:C:G | R375S | 0.987 |
| 1:222579866:A:G | W100R | 0.987 |
| 1:222579866:A:T | W100R | 0.987 |
| 1:222584211:A:G | W70R | 0.987 |
| 1:222584211:A:T | W70R | 0.987 |
| 1:222561467:C:A | W379C | 0.985 |
| 1:222561467:C:G | W379C | 0.985 |
| 1:222569625:A:T | L260H | 0.985 |
| 1:222561490:A:G | W372R | 0.984 |
| 1:222561490:A:T | W372R | 0.984 |
| 1:222569514:A:G | L297P | 0.984 |
| 1:222569625:A:G | L260P | 0.983 |
| 1:222570553:A:C | F239L | 0.983 |
| 1:222570553:A:T | F239L | 0.983 |
| 1:222570555:A:G | F239L | 0.983 |
| 1:222577592:C:G | A153P | 0.981 |
| 1:222561457:G:C | H383D | 0.980 |
| 1:222569588:A:C | N272K | 0.979 |
| 1:222569588:A:T | N272K | 0.979 |
| 1:222569613:G:T | A264E | 0.979 |
| 1:222577618:A:G | L144P | 0.979 |
| 1:222577495:A:G | L185P | 0.978 |
dbSNP variants (sampled 300 via entrez): RS1000049603 (1:222577081 C>T), RS1000154705 (1:222565190 C>T), RS1000271475 (1:222570316 C>G,T), RS1000276793 (1:222558770 A>G), RS1000307880 (1:222558379 T>C,G), RS1000406721 (1:222591407 A>G), RS1000571308 (1:222584466 T>A), RS1000778732 (1:222584773 C>T), RS1000838584 (1:222571014 T>C), RS1000863796 (1:222556263 G>A), RS1000894698 (1:222583901 A>AG), RS1000917994 (1:222557814 G>GTC), RS1001120243 (1:222590512 A>G), RS1001168545 (1:222563518 A>G), RS1001199926 (1:222563882 G>A)
Disease associations
OMIM: gene MIM:604903 | disease phenotypes: MIM:619433
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| familial isolated dilated cardiomyopathy | Supportive | Autosomal dominant |
Mondo (3): dilated cardiomyopathy (MONDO:0005021), cardiomyopathy, familial restrictive, 6 (MONDO:0030330), (MONDO:0015470)
Orphanet (1): Dilated cardiomyopathy (Orphanet:217604)
HPO phenotypes
13 total (13 of 13 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000969 | Edema |
| HP:0001635 | Congestive heart failure |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001727 | Thromboembolic stroke |
| HP:0002875 | Exertional dyspnea |
| HP:0003198 | Myopathy |
| HP:0003457 | EMG abnormality |
| HP:0011675 | Arrhythmia |
| HP:0012378 | Fatigue |
| HP:0012764 | Orthopnea |
| HP:0025169 | Left ventricular systolic dysfunction |
| HP:0100578 | Lipoatrophy |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008154_18 | Trunk fat mass | 2.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002311 | Cardiomyopathy, Dilated | C14.280.195.160; C14.280.238.070; C16.320.488.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105882 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, decreases expression | 5 |
| Benzo(a)pyrene | decreases expression, increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| Aflatoxin B1 | affects expression, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| erastin | decreases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Arsenic | increases expression, increases abundance | 1 |
| Cannabidiol | affects cotreatment, decreases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Cuprizone | affects cotreatment, decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Theophylline | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4053076 | Binding | Inhibition of human His tagged TAF1A incubated for 30 mins followed by addition of biotinylated peptide and further incubation for 30 mins measured by AlphaScreen assay | Design of a Biased Potent Small Molecule Inhibitor of the Bromodomain and PHD Finger-Containing (BRPF) Proteins Suitable for Cellular and in Vivo Studies. — J Med Chem |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A6Y1 | SEES3-1V human TAF1A, clone1 | Embryonic stem cell | Male |
| CVCL_A6Y2 | SEES3-1V human TAF1A, clone2 | Embryonic stem cell | Male |
| CVCL_A6Y3 | SEES3-1V human TAF1A, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
158 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00374465 | PHASE4 | UNKNOWN | Therapy With Verapamil or Carvedilol in Chronic Heart Failure |
| NCT01293903 | PHASE4 | COMPLETED | Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy |
| NCT01557140 | PHASE4 | COMPLETED | A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy |
| NCT01917149 | PHASE4 | COMPLETED | Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy |
| NCT02115581 | PHASE4 | COMPLETED | Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy |
| NCT06236022 | PHASE4 | RECRUITING | The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus |
| NCT00333827 | PHASE3 | COMPLETED | Cell Therapy In Dilated Cardiomyopathy |
| NCT00505154 | PHASE3 | COMPLETED | Effect of Rosuvastatin on Left Ventricular Remodeling |
| NCT01223703 | PHASE3 | COMPLETED | PUFAs and Left Ventricular Function in Heart Failure |
| NCT01583114 | PHASE3 | TERMINATED | PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors |
| NCT01914081 | PHASE3 | UNKNOWN | Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside |
| NCT02989181 | PHASE3 | UNKNOWN | Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea |
| NCT03439514 | PHASE3 | TERMINATED | A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation |
| NCT05237323 | PHASE3 | COMPLETED | Micophenolate Mofetil Versus Azathioprine in Myocarditis |
| NCT05849766 | PHASE3 | COMPLETED | Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction |
| NCT06250257 | PHASE3 | RECRUITING | Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age |
| NCT00629018 | PHASE2 | COMPLETED | Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy |
| NCT00629096 | PHASE2 | COMPLETED | Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy |
| NCT00765518 | PHASE2 | COMPLETED | Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM) |
| NCT00847964 | PHASE2 | COMPLETED | Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery |
| NCT01020968 | PHASE2 | COMPLETED | Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy |
| NCT01302171 | PHASE2 | COMPLETED | Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy |
| NCT01350310 | PHASE2 | COMPLETED | Safety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy |
| NCT02133911 | PHASE2 | COMPLETED | A Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy |
| NCT03071653 | PHASE2 | SUSPENDED | Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study |
| NCT03572660 | PHASE2 | ACTIVE_NOT_RECRUITING | Use of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM |
| NCT03775070 | PHASE2 | COMPLETED | Simvastatin Therapy in Patients With Dilated Cardiomyopathy. |
| NCT04405804 | PHASE2 | UNKNOWN | Early Administration of Ivabradine in Children With Heart Failure |
| NCT05410873 | PHASE2 | COMPLETED | Examining the Effects of Mitochondrial Oxidative Stress in DCM |
| NCT06632834 | PHASE2 | RECRUITING | Outcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation |
| NCT00585546 | PHASE1 | TERMINATED | Harefield Recovery Protocol Study for Patients With Refractory Chronic Heart Failure |
| NCT02293603 | PHASE1 | UNKNOWN | Dilated cardiomYopathy iNtervention With Allogeneic MyocardIally-regenerative Cells (DYNAMIC) |
| NCT03062956 | PHASE1 | COMPLETED | A Single Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of MYK-491 |
| NCT03129568 | PHASE1 | COMPLETED | Transcoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy |
| NCT04982081 | PHASE1 | UNKNOWN | Treating Congestive HF With hiPSC-CMs Through Endocardial Injection |
| NCT06381466 | PHASE1 | TERMINATED | A Study to Investigate Safety, Tolerability, and Pharmacokinetics of Oral AZD0233 Compared With Placebo in Healthy Adult Participants. |
| NCT06464588 | PHASE1 | RECRUITING | A Phase 1 Open-Label Study of the Safety of Intravenous Allogeneic Neonatal Mesenchymal Cells (nMSCs) in Young Adult (1A) and Pediatric (1B) Patients With Dilated Cardiomyopathy (DCM) |
| NCT06902896 | PHASE1 | COMPLETED | Safety and Efficacy of FAP iCDC in End-stage Dilated Cardiomyopathy |
| NCT07137338 | PHASE1 | RECRUITING | A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy |
| NCT07241104 | PHASE1 | RECRUITING | A Study of AZD4063 in PLN R14del Dilated Cardiomyopathy |
Related Atlas pages
- Associated diseases: familial isolated dilated cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cardiomyopathy, familial restrictive, 6, dilated cardiomyopathy