SLC35B1
gene geneOn this page
Also known as UGTREL1AXER
Summary
SLC35B1 (solute carrier family 35 member B1, HGNC:20798) is a protein-coding gene on chromosome 17q21.33, encoding Solute carrier family 35 member B1 (P78383). ATP:ADP antiporter that catalyzes the exchange of ATP and ADP across the endoplasmic reticulum (ER) membrane. It is a common-essential gene (DepMap: required in 98.2% of cancer cell lines).
This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 10237 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 56 total
- Cancer dependency (DepMap): dependent in 98.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_005827
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20798 |
| Approved symbol | SLC35B1 |
| Name | solute carrier family 35 member B1 |
| Location | 17q21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | UGTREL1, AXER |
| Ensembl gene | ENSG00000121073 |
| Ensembl biotype | protein_coding |
| OMIM | 610790 |
| Entrez | 10237 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 15 protein_coding, 10 retained_intron, 2 nonsense_mediated_decay
ENST00000240333, ENST00000435059, ENST00000502268, ENST00000502406, ENST00000503334, ENST00000504260, ENST00000505765, ENST00000507477, ENST00000507773, ENST00000508520, ENST00000508607, ENST00000508749, ENST00000508926, ENST00000509781, ENST00000511657, ENST00000511763, ENST00000513508, ENST00000514907, ENST00000515850, ENST00000649906, ENST00000858530, ENST00000858531, ENST00000858532, ENST00000858533, ENST00000940145, ENST00000940146, ENST00000953815
RefSeq mRNA: 2 — MANE Select: NM_005827
NM_001278784, NM_005827
CCDS: CCDS11552
Canonical transcript exons
ENST00000240333 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002068470 | 49700943 | 49701510 |
| ENSE00002072326 | 49707730 | 49707964 |
| ENSE00003487693 | 49706204 | 49706334 |
| ENSE00003584569 | 49703188 | 49703294 |
| ENSE00003585754 | 49705124 | 49705281 |
| ENSE00003598409 | 49705866 | 49705896 |
| ENSE00003644251 | 49702858 | 49703011 |
| ENSE00003670103 | 49706965 | 49707068 |
| ENSE00003785687 | 49704100 | 49704226 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 96.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.8899 / max 447.7498, expressed in 1824 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 166821 | 36.8303 | 1823 |
| 166822 | 1.9792 | 947 |
| 166819 | 1.3584 | 533 |
| 166820 | 1.2631 | 710 |
| 208242 | 0.3568 | 174 |
| 166824 | 0.1022 | 38 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 96.92 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.27 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.95 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.86 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.74 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.66 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.65 | gold quality |
| pituitary gland | UBERON:0000007 | 95.62 | gold quality |
| body of pancreas | UBERON:0001150 | 95.52 | gold quality |
| oocyte | CL:0000023 | 95.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.51 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.47 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.42 | gold quality |
| muscle of leg | UBERON:0001383 | 95.31 | gold quality |
| cardiac ventricle | UBERON:0002082 | 95.31 | gold quality |
| thyroid gland | UBERON:0002046 | 95.27 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.13 | gold quality |
| pancreas | UBERON:0001264 | 95.11 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.03 | gold quality |
| duodenum | UBERON:0002114 | 94.95 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.94 | gold quality |
| granulocyte | CL:0000094 | 94.89 | gold quality |
| rectum | UBERON:0001052 | 94.88 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.82 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.80 | gold quality |
| heart | UBERON:0000948 | 94.67 | gold quality |
| bone marrow cell | CL:0002092 | 94.59 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.59 | gold quality |
| small intestine | UBERON:0002108 | 94.55 | gold quality |
| upper lobe of lung | UBERON:0008948 | 94.52 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting SLC35B1, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-3191-5P | 99.24 | 66.52 | 1722 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-4463 | 98.56 | 66.05 | 1071 |
| HSA-MIR-6776-3P | 98.38 | 66.34 | 655 |
| HSA-MIR-585-5P | 97.54 | 69.02 | 955 |
| HSA-MIR-4253 | 97.48 | 65.11 | 692 |
| HSA-MIR-6862-5P | 97.48 | 64.84 | 713 |
| HSA-MIR-7847-3P | 96.63 | 64.58 | 952 |
| HSA-MIR-6822-3P | 96.60 | 66.06 | 680 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- SLC35B1 significantly contributes to the uptake of UDPGA into the endoplasmic reticulum for glucuronidation catalyzed by UDP-glucuronosyltransferases. (PMID:32179043)
- The broad range di- and tri-nucleotide exchanger SLC35B1 displays asymmetrical affinities for ATP transport across the ER membrane. (PMID:35041824)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc35b1 | ENSDARG00000038213 |
| mus_musculus | Slc35b1 | ENSMUSG00000020873 |
| rattus_norvegicus | Slc35b1 | ENSRNOG00000004510 |
| drosophila_melanogaster | meigo | FBGN0250820 |
| caenorhabditis_elegans | WBGENE00013740 |
Paralogs (3): SLC35B3 (ENSG00000124786), SLC35B2 (ENSG00000157593), SLC35B4 (ENSG00000205060)
Protein
Protein identifiers
Solute carrier family 35 member B1 — P78383 (reviewed: P78383)
Alternative names: ATP/ADP exchanger ER, Endoplasmic reticulum ATP/ADP translocase, UDP-galactose transporter-related protein 1
All UniProt accessions (9): D6R981, D6R9G9, D6RB73, D6RDY9, D6RE58, D6RF81, D6RG34, D6RHG0, P78383
UniProt curated annotations — full annotation on UniProt →
Function. ATP:ADP antiporter that catalyzes the exchange of ATP and ADP across the endoplasmic reticulum (ER) membrane. Imports ATP from the cytosol to the ER lumen and exports ADP in the opposite direction. Regulates ER energy metabolism and protein biogenesis. Appears to be part of a calcium-dependent ER to cytosol low energy response axis, where calcium efflux from ER to the cytosol triggers ATP import into the ER lumen to maintain sufficient ATP supply. Provides ATP to ER chaperone HSPA5 that drives protein folding and trafficking in the ER. Can transport dATP, UTP or UDP in exchange for ATP, but the physiological relevance of this process remains to be established. ATP:ADP antiporter. ATP:ADP antiporter.
Subunit / interactions. Monomer.
Subcellular location. Endoplasmic reticulum membrane.
Domain organisation. The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
Similarity. Belongs to the nucleotide-sugar transporter family. SLC35B subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P78383-1 | 1 | yes |
| P78383-2 | 2 |
RefSeq proteins (2): NP_001265713, NP_005818* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013657 | HUT1 | Family |
| IPR037185 | EmrE-like | Homologous_superfamily |
Pfam: PF08449
Catalyzed reactions (Rhea), 4 shown:
- ADP(in) + ATP(out) = ADP(out) + ATP(in) (RHEA:34999)
- UDP(out) + ATP(in) = UDP(in) + ATP(out) (RHEA:73707)
- UTP(out) + ATP(in) = UTP(in) + ATP(out) (RHEA:73711)
- dATP(out) + ATP(in) = dATP(in) + ATP(out) (RHEA:73715)
UniProt features (47 total): topological domain 11, mutagenesis site 11, transmembrane region 10, binding site 6, sequence conflict 3, modified residue 2, chain 1, short sequence motif 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9I20 | ELECTRON MICROSCOPY | 2.85 |
| 9GRY | ELECTRON MICROSCOPY | 3 |
| 9GS5 | ELECTRON MICROSCOPY | 3.1 |
| 9GS3 | ELECTRON MICROSCOPY | 3.15 |
| 9GS7 | ELECTRON MICROSCOPY | 3.15 |
| 9GSL | ELECTRON MICROSCOPY | 3.37 |
| 9GRZ | ELECTRON MICROSCOPY | 3.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P78383-F1 | 86.63 | 0.57 |
Antibody-complex structures (SAbDab): 6 — 9GRY, 9GS3, 9GS5, 9GS7, 9GSL, 9I20
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (6): 120; 254; 257; 269; 273; 277
Post-translational modifications (2): 15, 29
Mutagenesis-validated functional residues (11):
| Position | Phenotype |
|---|---|
| 25 | decreases adp uptake. |
| 94 | decreases adp uptake. |
| 117 | loss of atp:adp antiporter activity. decreases adp uptake. |
| 120 | loss of atp:adp antiporter activity. decreases adp uptake. |
| 190 | decreases adp uptake. |
| 254 | decreases adp uptake. |
| 257 | decreases adp uptake. |
| 261 | decreases adp uptake. |
| 273 | decreases adp uptake. |
| 276 | loss of atp:adp antiporter activity. decreases adp uptake. |
| 277 | loss of atp:adp antiporter activity. decreases adp uptake. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 210 (showing top):
ELVIDGE_HYPOXIA_DN, PAX4_01, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, KYNG_DNA_DAMAGE_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_NUCLEOTIDE_TRANSPORT, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, AP1_Q4_01, MARTINEZ_RB1_TARGETS_DN, GOMF_NUCLEOBASE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY
GO Biological Process (5): UDP-galactose transmembrane transport (GO:0072334), UDP-glucose transmembrane transport (GO:0015786), ADP transport (GO:0015866), ATP transport (GO:0015867), transmembrane transport (GO:0055085)
GO Molecular Function (5): UDP-galactose transmembrane transporter activity (GO:0005459), UDP-glucose transmembrane transporter activity (GO:0005460), ATP:ADP antiporter activity (GO:0005471), protein binding (GO:0005515), antiporter activity (GO:0015297)
GO Cellular Component (6): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), intracellular membrane-bounded organelle (GO:0043231), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| pyrimidine nucleotide-sugar transmembrane transport | 2 |
| purine ribonucleotide transport | 2 |
| adenine nucleotide transport | 2 |
| pyrimidine nucleotide-sugar transmembrane transporter activity | 2 |
| cellular anatomical structure | 2 |
| transport | 1 |
| cellular process | 1 |
| UDP-galactose transmembrane transport | 1 |
| UDP-glucose transmembrane transport | 1 |
| ATP transmembrane transporter activity | 1 |
| ADP transmembrane transporter activity | 1 |
| antiporter activity | 1 |
| binding | 1 |
| secondary active transmembrane transporter activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| intracellular anatomical structure | 1 |
| membrane-bounded organelle | 1 |
| intracellular organelle | 1 |
Protein interactions and networks
STRING
1286 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC35B1 | SLC35D1 | Q9NTN3 | 950 |
| SLC35B1 | SLC35D3 | Q5M8T2 | 798 |
| SLC35B1 | SLC35A2 | P78381 | 793 |
| SLC35B1 | SLC35D2 | Q76EJ3 | 770 |
| SLC35B1 | SLC35A5 | Q9BS91 | 583 |
| SLC35B1 | SLC35A4 | Q96G79 | 573 |
| SLC35B1 | SLC35E1 | Q96K37 | 550 |
| SLC35B1 | SLC35H1 | Q9NQQ7 | 547 |
| SLC35B1 | SLC35C1 | Q96A29 | 540 |
| SLC35B1 | SLC35F1 | Q5T1Q4 | 531 |
| SLC35B1 | SLC35A1 | P78382 | 526 |
| SLC35B1 | EMC7 | Q9NPA0 | 487 |
| SLC35B1 | TMEM208 | Q9BTX3 | 477 |
| SLC35B1 | IER3IP1 | Q9Y5U9 | 465 |
| SLC35B1 | YIPF6 | Q96EC8 | 448 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC35B1 | FXYD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BNIP3 | SLC35B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTPN5 | SLC35B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD74 | SLC35B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | FZD5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | ARL13B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | VSIR | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | VAPA | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | FKBP8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | AQP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | BNIP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD79A | SLC35B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | CCDC107 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | MFF | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | GPR152 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | PDZK1IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35B1 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.530 |
| E2 | SLC35B1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC35B1 | DRD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC35B1 | FZD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC35B1 | HRH1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PCNA | SLC35B1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC35B1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35B1 | MFF | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (107): SLC35B1 (Affinity Capture-MS), SLC35B1 (Affinity Capture-MS), SLC35B1 (Two-hybrid), SLC35B1 (Two-hybrid), SLC35B1 (Two-hybrid), SLC35B1 (Two-hybrid), SLC35B1 (Two-hybrid), SLC35B1 (Two-hybrid), SLC35B1 (Two-hybrid), SLC35B1 (Two-hybrid), CREB3L1 (Two-hybrid), CCDC107 (Two-hybrid), PDZK1IP1 (Two-hybrid), FZD5 (Two-hybrid), MFF (Two-hybrid)
ESM2 similar proteins: A0JMG9, A4IFK2, A4IHW3, A6QM03, A7S1L6, A7TES5, A9UUB8, C8Z742, O08520, O74750, P78383, P87041, P97858, Q02334, Q12520, Q17CE7, Q18779, Q1JQ66, Q20787, Q29Q28, Q3E6T0, Q550W6, Q61420, Q61LC0, Q66HX0, Q6CR04, Q6FRE5, Q6GQ70, Q6PGC7, Q6V7K3, Q753T9, Q7Z769, Q84L08, Q8AWB6, Q8BLX4, Q8MII5, Q8WZJ9, Q94EI9, Q968A5, Q96A29
Diamond homologs: O64503, P78383, P97858, Q4P9R2, Q54I86, Q55DM5, Q5R9A1, Q66HX0, Q6BMV3, Q6C4X5, Q6GQ70, Q6NM25, Q6NMB6, Q6V7K3, Q8AWB6, Q8AXS6, Q8MII5, Q8MXJ9, Q8TB61, Q8WZJ9, Q91ZN5, Q9M9S6, Q9VDD7, Q9VEI3, P0CP32, P0CP33, Q4WJM7, Q5ADN8, Q5B5W2, Q6CR04, Q755H7, Q5R831, Q922Q5, Q9H1N7, Q12520, Q6FSF8, Q17CE7, Q20787, Q29EY2, Q29Q28
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1645 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:49703010:CT:C | acceptor_gain | 1.0000 |
| 17:49703181:CACT:C | donor_loss | 1.0000 |
| 17:49703182:ACTC:A | donor_loss | 1.0000 |
| 17:49703183:CTCA:C | donor_loss | 1.0000 |
| 17:49703184:TCACC:T | donor_loss | 1.0000 |
| 17:49703185:CA:C | donor_loss | 1.0000 |
| 17:49703186:ACCT:A | donor_loss | 1.0000 |
| 17:49703187:CC:C | donor_loss | 1.0000 |
| 17:49703292:TTC:T | acceptor_gain | 1.0000 |
| 17:49703305:A:C | acceptor_gain | 1.0000 |
| 17:49704098:AC:A | donor_gain | 1.0000 |
| 17:49704099:CC:C | donor_gain | 1.0000 |
| 17:49705118:TCATA:T | donor_loss | 1.0000 |
| 17:49705119:CATA:C | donor_loss | 1.0000 |
| 17:49705121:TA:T | donor_loss | 1.0000 |
| 17:49705122:A:AC | donor_gain | 1.0000 |
| 17:49705122:ACCA:A | donor_loss | 1.0000 |
| 17:49705123:C:A | donor_loss | 1.0000 |
| 17:49705123:C:CC | donor_gain | 1.0000 |
| 17:49705132:G:C | donor_gain | 1.0000 |
| 17:49705174:T:A | donor_gain | 1.0000 |
| 17:49705277:CATGA:C | acceptor_gain | 1.0000 |
| 17:49705278:ATGA:A | acceptor_gain | 1.0000 |
| 17:49705279:TGA:T | acceptor_gain | 1.0000 |
| 17:49705279:TGAC:T | acceptor_loss | 1.0000 |
| 17:49705280:GA:G | acceptor_gain | 1.0000 |
| 17:49705281:AC:A | acceptor_loss | 1.0000 |
| 17:49705282:C:CC | acceptor_gain | 1.0000 |
| 17:49705282:CTACA:C | acceptor_loss | 1.0000 |
| 17:49705283:T:C | acceptor_loss | 1.0000 |
AlphaMissense
2081 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:49704207:T:A | D183V | 1.000 |
| 17:49704207:T:G | D183A | 1.000 |
| 17:49704208:C:G | D183H | 1.000 |
| 17:49704216:A:G | L180P | 1.000 |
| 17:49705190:G:C | F154L | 1.000 |
| 17:49705190:G:T | F154L | 1.000 |
| 17:49705192:A:G | F154L | 1.000 |
| 17:49705203:C:T | G150E | 1.000 |
| 17:49705204:C:G | G150R | 1.000 |
| 17:49705204:C:T | G150R | 1.000 |
| 17:49705876:C:A | K120N | 1.000 |
| 17:49705876:C:G | K120N | 1.000 |
| 17:49705892:A:T | L115H | 1.000 |
| 17:49701507:A:T | L307H | 0.999 |
| 17:49701510:C:T | G306D | 0.999 |
| 17:49702858:C:G | G306R | 0.999 |
| 17:49702862:G:C | F304L | 0.999 |
| 17:49702862:G:T | F304L | 0.999 |
| 17:49702864:A:G | F304L | 0.999 |
| 17:49702866:A:T | V303E | 0.999 |
| 17:49702878:C:T | G299D | 0.999 |
| 17:49702879:C:G | G299R | 0.999 |
| 17:49702935:G:T | T280K | 0.999 |
| 17:49702947:C:G | R276P | 0.999 |
| 17:49702953:G:T | T274K | 0.999 |
| 17:49702967:G:C | C269W | 0.999 |
| 17:49702969:A:G | C269R | 0.999 |
| 17:49702980:C:A | G265V | 0.999 |
| 17:49703000:A:C | F258L | 0.999 |
| 17:49703000:A:T | F258L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000276040 (17:49705559 A>C), RS1000571047 (17:49701866 G>A), RS1000918106 (17:49702116 C>T), RS1001098651 (17:49705933 G>A), RS1001950978 (17:49707665 A>G,T), RS1002205455 (17:49705477 G>A), RS1002412725 (17:49701281 C>G,T), RS1002536045 (17:49703918 T>C), RS1003312952 (17:49706056 A>G), RS1005099750 (17:49702433 TAA>T), RS1005192593 (17:49707598 A>C), RS1005243211 (17:49707206 G>A,C), RS1005699439 (17:49700950 GTT>G,GT,GTTT), RS1006023918 (17:49704722 T>A,C), RS1006166150 (17:49700542 G>A,C)
Disease associations
OMIM: gene MIM:610790 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC35 family of nucleotide sugar transporters
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | affects cotreatment, increases expression | 5 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Tunicamycin | increases expression | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| Thapsigargin | increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| nefazodone | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Chenodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Deoxycholic Acid | affects cotreatment, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Glycochenodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Glycocholic Acid | affects cotreatment, increases expression | 1 |
| Glycodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Rotenone | increases expression | 1 |
| Zinc | increases expression | 1 |
| Isotretinoin | decreases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Copper Sulfate | 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.