TTLL1
gene geneOn this page
Also known as PGs3TPGS3
Summary
TTLL1 (TTL family tubulin polyglutamylase complex subunit L1, HGNC:1312) is a protein-coding gene on chromosome 22q13.2, encoding Polyglutamylase complex subunit TTLL1 (O95922). Catalytic subunit of a polyglutamylase complex which modifies tubulin, generating side chains of glutamate on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin.
Enables tubulin-glutamic acid ligase activity. Involved in microtubule cytoskeleton organization. Is active in microtubule.
Source: NCBI Gene 25809 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 68 total
- MANE Select transcript:
NM_012263
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1312 |
| Approved symbol | TTLL1 |
| Name | TTL family tubulin polyglutamylase complex subunit L1 |
| Location | 22q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PGs3, TPGS3 |
| Ensembl gene | ENSG00000100271 |
| Ensembl biotype | protein_coding |
| OMIM | 608955 |
| Entrez | 25809 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 13 protein_coding, 2 nonsense_mediated_decay
ENST00000266254, ENST00000331018, ENST00000439248, ENST00000440761, ENST00000903474, ENST00000903475, ENST00000903476, ENST00000903477, ENST00000903478, ENST00000903479, ENST00000903480, ENST00000903481, ENST00000947941, ENST00000947942, ENST00000947943
RefSeq mRNA: 1 — MANE Select: NM_012263
NM_012263
CCDS: CCDS14043
Canonical transcript exons
ENST00000266254 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001391416 | 43079902 | 43079986 |
| ENSE00001524460 | 43089277 | 43089391 |
| ENSE00002241278 | 43075474 | 43075590 |
| ENSE00003482768 | 43046410 | 43046573 |
| ENSE00003510588 | 43063813 | 43063921 |
| ENSE00003524823 | 43064190 | 43064324 |
| ENSE00003530224 | 43059384 | 43059527 |
| ENSE00003606179 | 43051801 | 43051887 |
| ENSE00003639415 | 43039516 | 43039905 |
| ENSE00003647089 | 43069636 | 43069844 |
| ENSE00003663996 | 43068410 | 43068590 |
Expression profiles
Bgee: expression breadth ubiquitous, 222 present calls, max score 91.28.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.5858 / max 46.0107, expressed in 1555 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 194502 | 3.1833 | 1395 |
| 194501 | 1.4025 | 936 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 91.28 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.72 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.72 | gold quality |
| bronchial epithelial cell | CL:0002328 | 87.77 | gold quality |
| ventricular zone | UBERON:0003053 | 87.44 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 87.07 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.04 | gold quality |
| bronchus | UBERON:0002185 | 86.70 | gold quality |
| embryo | UBERON:0000922 | 84.38 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 83.63 | silver quality |
| prefrontal cortex | UBERON:0000451 | 83.59 | gold quality |
| frontal pole | UBERON:0002795 | 83.41 | silver quality |
| right uterine tube | UBERON:0001302 | 83.04 | gold quality |
| oocyte | CL:0000023 | 82.51 | gold quality |
| stromal cell of endometrium | CL:0002255 | 82.50 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 82.25 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 82.02 | gold quality |
| neocortex | UBERON:0001950 | 81.48 | gold quality |
| cingulate cortex | UBERON:0003027 | 81.38 | gold quality |
| frontal cortex | UBERON:0001870 | 81.36 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.28 | gold quality |
| testis | UBERON:0000473 | 81.26 | gold quality |
| left testis | UBERON:0004533 | 81.26 | gold quality |
| secondary oocyte | CL:0000655 | 81.25 | gold quality |
| right testis | UBERON:0004534 | 81.22 | gold quality |
| nucleus accumbens | UBERON:0001882 | 81.21 | gold quality |
| right frontal lobe | UBERON:0002810 | 81.14 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 81.12 | gold quality |
| cerebral cortex | UBERON:0000956 | 81.05 | gold quality |
| hypothalamus | UBERON:0001898 | 80.95 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting TTLL1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-1244 | 99.33 | 68.38 | 832 |
| HSA-MIR-154-5P | 98.92 | 66.65 | 733 |
| HSA-MIR-519A-2-5P | 98.78 | 71.74 | 1401 |
| HSA-MIR-520B-5P | 98.78 | 71.74 | 1401 |
| HSA-MIR-6796-3P | 98.68 | 65.49 | 689 |
| HSA-MIR-374B-3P | 98.63 | 68.24 | 1360 |
| HSA-MIR-219A-2-3P | 98.62 | 68.78 | 797 |
| HSA-MIR-3158-3P | 98.45 | 64.25 | 560 |
| HSA-MIR-6773-3P | 98.17 | 65.51 | 1213 |
| HSA-MIR-215-3P | 97.02 | 68.01 | 1209 |
| HSA-MIR-3174 | 94.63 | 63.64 | 577 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ttll1 | ENSDARG00000090778 |
| mus_musculus | Ttll1 | ENSMUSG00000022442 |
| rattus_norvegicus | Ttll1 | ENSRNOG00000010141 |
| drosophila_melanogaster | TTLL1A | FBGN0030823 |
| drosophila_melanogaster | TTLL1B | FBGN0052238 |
Paralogs (12): TTLL12 (ENSG00000100304), TTLL2 (ENSG00000120440), TTLL9 (ENSG00000131044), TTLL4 (ENSG00000135912), TTLL7 (ENSG00000137941), TTLL8 (ENSG00000138892), TTLL10 (ENSG00000162571), TTLL6 (ENSG00000170703), TTLL11 (ENSG00000175764), KPRP (ENSG00000203786), TTLL13 (ENSG00000213471), TTLL3 (ENSG00000214021)
Protein
Protein identifiers
Polyglutamylase complex subunit TTLL1 — O95922 (reviewed: O95922)
Alternative names: Tubulin polyglutamylase TTLL1, Tubulin polyglutamylase complex subunit 3, Tubulin–tyrosine ligase-like protein 1
All UniProt accessions (1): O95922
UniProt curated annotations — full annotation on UniProt →
Function. Catalytic subunit of a polyglutamylase complex which modifies tubulin, generating side chains of glutamate on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Probably involved in the side-chain elongation step of the polyglutamylation reaction rather than the initiation step. Modifies both alpha- and beta-tubulins with a preference for the alpha-tail. Unlike most polyglutamylases of the tubulin–tyrosine ligase family, only displays a catalytic activity when in complex with other proteins as it is most likely lacking domains important for autonomous activity. Part of the neuronal tubulin polyglutamylase complex. Mediates cilia and flagella polyglutamylation which is essential for their biogenesis and motility. Involved in respiratory motile cilia function through the regulation of beating asymmetry. Essential for sperm flagella biogenesis, motility and male fertility. Involved in KLF4 glutamylation which impedes its ubiquitination, thereby leading to somatic cell reprogramming, pluripotency maintenance and embryogenesis.
Subunit / interactions. Part of the neuronal tubulin polyglutamylase complex which contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1. Interacts with PCM1, CSTPP1 and LRRC49.
Subcellular location. Cytoplasm. Cytoskeleton. Cilium basal body. Cilium axoneme. Cell projection. Cilium. Flagellum.
Tissue specificity. Expressed in a wide range of tissues. Has a stronger expression in heart, brain and testis.
Domain organisation. Gln-144 is the main determinant for regioselectivity, which segregates between initiases and elongases in all tubulin–tyrosine ligase family. A glutamine residue at this position is found in elongases TTLL6, TTLL9, TTLL11, TTLL13, TTLL10 and favors glutamate-chain elongation, whereas an arginine residue is found in initiases TTLL2, TTLL4, TTLL5, TTLL3, TTLL8 and favors initiation.
Similarity. Belongs to the tubulin polyglutamylase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95922-1 | A, TTLL1a | yes |
| O95922-2 | B, TTLL1b, Truncated | |
| O95922-4 | 4 |
RefSeq proteins (1): NP_036395* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004344 | TTL/TTLL_fam | Family |
Pfam: PF03133
Catalyzed reactions (Rhea), 1 shown:
- (L-glutamyl)(n)-gamma-L-glutamyl-L-glutamyl-[protein] + L-glutamate + ATP = (L-glutamyl)(n+1)-gamma-L-glutamyl-L-glutamyl-[protein] + ADP + phosphate + H(+) (RHEA:60148)
UniProt features (22 total): binding site 13, splice variant 3, chain 1, domain 1, site 1, region of interest 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95922-F1 | 86.07 | 0.63 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 144 (essential for specifying alpha-elongation versus initiation step of the polyglutamylase activity)
Ligand- & substrate-binding residues (13): 259; 313; 326; 326; 328; 344; 138; 144–145; 144; 181–184; 194–196; 220 …
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 326 | abolishes microtubule polyglutamylation. decreases map4 recruitment to microtubules. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8955332 | Carboxyterminal post-translational modifications of tubulin |
MSigDB gene sets: 172 (showing top):
GOBP_HINDBRAIN_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, TGCGCANK_UNKNOWN, GOBP_CEREBELLAR_PURKINJE_CELL_LAYER_FORMATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_CEREBELLAR_CORTEX_MORPHOGENESIS, GOBP_RESPIRATORY_SYSTEM_PROCESS, GOBP_NEUROGENESIS, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_CEREBELLAR_CORTEX_DEVELOPMENT
GO Biological Process (13): microtubule cytoskeleton organization (GO:0000226), immune response in nasopharyngeal-associated lymphoid tissue (GO:0002395), sperm axoneme assembly (GO:0007288), protein polyglutamylation (GO:0018095), cerebellar Purkinje cell differentiation (GO:0021702), mucociliary clearance (GO:0120197), regulation of blastocyst development (GO:0120222), epithelial cilium movement involved in extracellular fluid movement (GO:0003351), flagellated sperm motility (GO:0030317), axoneme assembly (GO:0035082), protein modification process (GO:0036211), microtubule polymerization (GO:0046785), cilium disassembly (GO:0061523)
GO Molecular Function (7): ATP binding (GO:0005524), tubulin binding (GO:0015631), metal ion binding (GO:0046872), tubulin-glutamic acid ligase activity (GO:0070740), protein-glutamic acid ligase activity, elongating (GO:0106438), nucleotide binding (GO:0000166), ligase activity (GO:0016874)
GO Cellular Component (9): extracellular region (GO:0005576), microtubule (GO:0005874), axoneme (GO:0005930), motile cilium (GO:0031514), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| protein-glutamic acid ligase activity | 2 |
| cilium | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| immune response in gut-associated lymphoid tissue | 1 |
| developmental process involved in reproduction | 1 |
| axoneme assembly | 1 |
| sperm flagellum assembly | 1 |
| peptidyl-glutamic acid modification | 1 |
| cell differentiation in hindbrain | 1 |
| cerebellar Purkinje cell layer formation | 1 |
| central nervous system neuron differentiation | 1 |
| respiratory system process | 1 |
| epithelial cilium movement involved in extracellular fluid movement | 1 |
| blastocyst development | 1 |
| regulation of developmental process | 1 |
| cilium movement | 1 |
| extracellular transport | 1 |
| microtubule-based transport | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| microtubule bundle formation | 1 |
| cellular component assembly | 1 |
| cilium assembly | 1 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| microtubule nucleation | 1 |
| microtubule polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| supramolecular fiber organization | 1 |
| cilium organization | 1 |
| organelle disassembly | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cytoskeletal protein binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
Protein interactions and networks
STRING
656 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TTLL1 | CEP41 | Q9BYV8 | 643 |
| TTLL1 | AGTPBP1 | Q9UPW5 | 612 |
| TTLL1 | TTLL12 | Q14166 | 609 |
| TTLL1 | LRRC49 | Q8IUZ0 | 595 |
| TTLL1 | SPAST | Q9UBP0 | 545 |
| TTLL1 | AGBL4 | Q5VU57 | 543 |
| TTLL1 | IQUB | Q8NA54 | 512 |
| TTLL1 | AGBL5 | Q8NDL9 | 506 |
| TTLL1 | TTLL5 | Q6EMB2 | 483 |
| TTLL1 | TTLL11 | Q8NHH1 | 483 |
| TTLL1 | NICN1 | Q9BSH3 | 483 |
| TTLL1 | CPXM2 | Q8N436 | 474 |
| TTLL1 | CHCHD1 | Q96BP2 | 473 |
| TTLL1 | CFAP97 | Q9P2B7 | 457 |
| TTLL1 | TTLL4 | Q14679 | 451 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NICN1 | TTLL1 | psi-mi:“MI:0914”(association) | 0.640 |
| TTLL1 | CDC27 | psi-mi:“MI:0914”(association) | 0.640 |
| TTLL1 | LRRK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TTLL1 | TCP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TTLL1 | H1-5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TTLL1 | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TTLL1 | CAMK2B | psi-mi:“MI:0914”(association) | 0.350 |
| CSTPP1 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| S1PR1 | ISLR | psi-mi:“MI:0914”(association) | 0.350 |
| TTLL1 | RGS12 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (80): CDC27 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), ANAPC5 (Affinity Capture-MS), CDC16 (Affinity Capture-MS), HECTD1 (Affinity Capture-MS), ANAPC1 (Affinity Capture-MS), ANAPC4 (Affinity Capture-MS), DNAJB4 (Affinity Capture-MS), ANAPC16 (Affinity Capture-MS), TBC1D19 (Affinity Capture-MS), LRRC49 (Affinity Capture-MS), CDC23 (Affinity Capture-MS), TPGS2 (Affinity Capture-MS), ANAPC2 (Affinity Capture-MS), HERC1 (Affinity Capture-MS)
ESM2 similar proteins: A2APC3, A4Q9E4, A8X9V4, A9X4T1, B2GUB3, B2RR83, H2KZM9, O16102, O43314, O95922, P08487, P10686, P16259, P16885, P19174, P20807, P23678, P24135, P43368, P49619, P49620, P49621, P51186, Q09639, Q09647, Q0VC71, Q14562, Q14BI7, Q22070, Q23SI8, Q3SXZ7, Q3SZH6, Q564U4, Q5PPI9, Q5R746, Q5REW0, Q62077, Q641W7, Q64691, Q6NS52
Diamond homologs: A2APC3, A4Q9E4, A4Q9E5, A4Q9E8, A4Q9F6, A6NNM8, A6PVC2, A8CVX7, B2GUB3, O95922, P0CAZ0, Q0VC71, Q1ECV4, Q23K29, Q23SI8, Q3SXZ7, Q3SZH6, Q4R7H0, Q564U4, Q5PPI9, Q5R978, Q641W7, Q6EEF3, Q6EMB2, Q8CHB8, Q8N841, Q91V51, Q9BWV7, Q9Y4R7, A4Q9F0, A4Q9F1, A4Q9F4, A8X9V4, E9P886, F7E540, H2KZM9, P38160, P38584, Q09647, Q14679
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TTLL1 | “form complex” | “Tubulin polyglutamylase complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
68 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 2 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2369 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:43046401:CACA:C | donor_gain | 1.0000 |
| 22:43046403:CA:C | donor_gain | 1.0000 |
| 22:43046404:A:AC | donor_gain | 1.0000 |
| 22:43046405:C:CC | donor_gain | 1.0000 |
| 22:43046406:TTACA:T | donor_loss | 1.0000 |
| 22:43046408:A:AC | donor_gain | 1.0000 |
| 22:43046408:A:C | donor_loss | 1.0000 |
| 22:43046409:C:CA | donor_gain | 1.0000 |
| 22:43046409:CA:C | donor_gain | 1.0000 |
| 22:43046409:CAG:C | donor_gain | 1.0000 |
| 22:43046409:CAGA:C | donor_gain | 1.0000 |
| 22:43046409:CAGAA:C | donor_gain | 1.0000 |
| 22:43046434:T:TA | donor_gain | 1.0000 |
| 22:43046435:C:A | donor_gain | 1.0000 |
| 22:43051796:GTTA:G | donor_loss | 1.0000 |
| 22:43051797:TTA:T | donor_loss | 1.0000 |
| 22:43051798:TA:T | donor_loss | 1.0000 |
| 22:43051799:A:AG | donor_loss | 1.0000 |
| 22:43051800:CCTC:C | donor_loss | 1.0000 |
| 22:43051883:ACCGG:A | acceptor_gain | 1.0000 |
| 22:43051884:CCGG:C | acceptor_gain | 1.0000 |
| 22:43051884:CCGGC:C | acceptor_gain | 1.0000 |
| 22:43051885:CGG:C | acceptor_gain | 1.0000 |
| 22:43051885:CGGC:C | acceptor_gain | 1.0000 |
| 22:43059379:CTCA:C | donor_loss | 1.0000 |
| 22:43059381:CAC:C | donor_loss | 1.0000 |
| 22:43059382:A:AC | donor_gain | 1.0000 |
| 22:43059383:C:CA | donor_loss | 1.0000 |
| 22:43059383:C:CC | donor_gain | 1.0000 |
| 22:43063811:AC:A | donor_gain | 1.0000 |
AlphaMissense
2798 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:43046512:A:G | L347P | 1.000 |
| 22:43046520:C:A | K344N | 1.000 |
| 22:43046520:C:G | K344N | 1.000 |
| 22:43046522:T:C | K344E | 1.000 |
| 22:43046524:A:G | L343P | 1.000 |
| 22:43046530:C:G | R341P | 1.000 |
| 22:43046533:T:A | D340V | 1.000 |
| 22:43046533:T:G | D340A | 1.000 |
| 22:43046534:C:G | D340H | 1.000 |
| 22:43046554:A:G | L333P | 1.000 |
| 22:43046560:G:C | P331R | 1.000 |
| 22:43046560:G:T | P331Q | 1.000 |
| 22:43046561:G:A | P331S | 1.000 |
| 22:43046561:G:T | P331T | 1.000 |
| 22:43046566:G:T | A329E | 1.000 |
| 22:43046568:A:C | N328K | 1.000 |
| 22:43046568:A:T | N328K | 1.000 |
| 22:43046570:T:C | N328D | 1.000 |
| 22:43051801:C:A | E326D | 1.000 |
| 22:43051801:C:G | E326D | 1.000 |
| 22:43051802:T:A | E326V | 1.000 |
| 22:43051802:T:G | E326A | 1.000 |
| 22:43051803:C:T | E326K | 1.000 |
| 22:43051808:A:G | L324P | 1.000 |
| 22:43051840:G:C | D313E | 1.000 |
| 22:43051840:G:T | D313E | 1.000 |
| 22:43051841:T:A | D313V | 1.000 |
| 22:43051841:T:C | D313G | 1.000 |
| 22:43051841:T:G | D313A | 1.000 |
| 22:43051842:C:A | D313Y | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000020795 (22:43077778 G>A), RS1000030097 (22:43058720 G>A), RS1000061890 (22:43044575 A>G), RS1000184333 (22:43052722 G>A), RS1000188188 (22:43087922 C>T), RS1000349576 (22:43082754 C>A,T), RS1000362001 (22:43046855 G>C), RS1000433953 (22:43074033 A>G), RS1000460867 (22:43039410 C>T), RS1000470527 (22:43041285 A>G), RS1000479128 (22:43084547 G>C), RS1000562930 (22:43077496 T>C), RS1000564319 (22:43069411 C>A,T), RS1000583417 (22:43045069 G>C), RS1000613732 (22:43072928 G>A)
Disease associations
OMIM: gene MIM:608955 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009319_2 | Uric acid elevation in response to thiazide-like diuretic in hypertension | 1.000000e-07 |
| GCST012490_28 | Femur bone mineral density x serum urate levels interaction | 2.000000e-12 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004761 | uric acid measurement |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, decreases expression | 3 |
| Acetaminophen | increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| afuresertib | increases expression | 1 |
| urushiol | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenite | affects splicing, decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Endosulfan | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Niclosamide | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.