SLC45A3
geneOn this page
Also known as IPCA-6prosteinIPCA-2IPCA-8
Summary
SLC45A3 (solute carrier family 45 member 3, HGNC:8642) is a protein-coding gene on chromosome 1q32.1, encoding Solute carrier family 45 member 3 (Q96JT2). Proton-associated sucrose transporter.
Predicted to enable sucrose:proton symporter activity. Predicted to be involved in positive regulation of small molecule metabolic process; regulation of oligodendrocyte differentiation; and sucrose transport. Predicted to be located in plasma membrane. Predicted to be active in membrane.
Source: NCBI Gene 85414 — RefSeq curated summary.
At a glance
- GWAS associations: 20
- Clinical variants (ClinVar): 74 total
- Druggable target: yes
- MANE Select transcript:
NM_033102
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8642 |
| Approved symbol | SLC45A3 |
| Name | solute carrier family 45 member 3 |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IPCA-6, prostein, IPCA-2, IPCA-8 |
| Ensembl gene | ENSG00000158715 |
| Ensembl biotype | protein_coding |
| OMIM | 605097 |
| Entrez | 85414 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 17 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000367145, ENST00000460934, ENST00000891085, ENST00000891086, ENST00000891087, ENST00000891088, ENST00000891089, ENST00000891090, ENST00000891091, ENST00000891092, ENST00000891093, ENST00000891094, ENST00000891095, ENST00000891096, ENST00000934615, ENST00000934616, ENST00000942928, ENST00000942929
RefSeq mRNA: 1 — MANE Select: NM_033102
NM_033102
CCDS: CCDS1458
Canonical transcript exons
ENST00000367145 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001040528 | 205662833 | 205663618 |
| ENSE00001443627 | 205664485 | 205664886 |
| ENSE00001443628 | 205680394 | 205680509 |
| ENSE00003644968 | 205661861 | 205662126 |
| ENSE00003694656 | 205657851 | 205659671 |
Expression profiles
Bgee: expression breadth ubiquitous, 203 present calls, max score 93.83.
FANTOM5 (CAGE): breadth broad, TPM avg 1.8096 / max 96.2539, expressed in 859 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 17013 | 1.0848 | 642 |
| 17012 | 0.3018 | 82 |
| 17011 | 0.2361 | 93 |
| 17010 | 0.1466 | 65 |
| 17014 | 0.0403 | 21 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| prostate gland | UBERON:0002367 | 93.83 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.94 | gold quality |
| oocyte | CL:0000023 | 91.63 | gold quality |
| spinal cord | UBERON:0002240 | 91.61 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.04 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 87.91 | gold quality |
| secondary oocyte | CL:0000655 | 87.09 | gold quality |
| ileal mucosa | UBERON:0000331 | 86.71 | gold quality |
| right lobe of liver | UBERON:0001114 | 86.60 | gold quality |
| spleen | UBERON:0002106 | 86.50 | gold quality |
| kidney epithelium | UBERON:0004819 | 85.88 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 85.64 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 84.83 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.08 | gold quality |
| substantia nigra | UBERON:0002038 | 83.70 | gold quality |
| midbrain | UBERON:0001891 | 82.55 | gold quality |
| corpus callosum | UBERON:0002336 | 82.39 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.61 | gold quality |
| liver | UBERON:0002107 | 80.17 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 80.08 | gold quality |
| rectum | UBERON:0001052 | 79.35 | gold quality |
| body of stomach | UBERON:0001161 | 79.30 | gold quality |
| Ammon’s horn | UBERON:0001954 | 79.12 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.04 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 78.24 | gold quality |
| right coronary artery | UBERON:0001625 | 77.73 | gold quality |
| stomach | UBERON:0000945 | 77.29 | gold quality |
| transverse colon | UBERON:0001157 | 77.29 | gold quality |
| right adrenal gland | UBERON:0001233 | 77.25 | gold quality |
| ascending aorta | UBERON:0001496 | 77.19 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9067 | yes | 19.46 |
| E-CURD-112 | yes | 14.40 |
| E-CURD-122 | yes | 8.88 |
| E-MTAB-9801 | yes | 8.45 |
| E-MTAB-8410 | yes | 8.28 |
| E-ANND-3 | yes | 6.13 |
| E-GEOD-99795 | no | 90.67 |
| E-MTAB-6678 | no | 3.84 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
93 targeting SLC45A3, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-5007-3P | 99.51 | 68.14 | 1242 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
Literature-anchored findings (GeneRIF, showing 18)
- T cells that recognize naturally processed epitopes from prostein were expanded from healthy donors and characterized. T cells isolated from males were of low avidity and recognized subdominant epitopes while those from females were of higher avidity (PMID:15048720)
- Prostein is expressed in the vast majority of prostatic tissues, regardless of grade and metastatic status. No expression was detected in 4,700 normal and malignant tissue samples representing the great majority of essential tissues and tumors. (PMID:15176054)
- P501S is a sensitive and highly specific marker for identifying prostate tissue. Combined use of prostein/prostate specific antigen used to detect prostatic origin of metastatic carcinomas. (PMID:17721190)
- A SLC45A3:ETV5 gene fusion was identified in prostate cancer. (PMID:18172298)
- Intronic miRNAs from tissue-specific transcripts, or their natural absence, make cardinal contributions to cellular gene expression and phenotype. (PMID:18193184)
- SLC45A3-ELK4 may represent the first description of a recurrent RNA chimaeric transcript specific to prostate cancer that does not have a detectable DNA aberration (PMID:19136943)
- This study demonstrates that most ERG-overexpressing prostate cancers harbor hormonally regulated TMPRSS2-ERG, SLC45A3-ERG, or NDRG1-ERG fusions (PMID:19649210)
- This is the first study to report concurrent TMPRSS2 and SLC45A3 rearrangements in the same tumor focus in prostate cancer (PMID:20118910)
- Double sequential immunohistochemical staining with p63 and P501S is highly specific and can be a useful tool in distinguishing urothelial carcinoma from prostate carcinoma. (PMID:21777423)
- Data suggest that chimeric SLC45A3-ELK4 controls prostate cancer cell proliferation, and the chimera level correlates with prostate cancer disease progression. (PMID:22719019)
- This study provides first evidence that the expression of SLC45A3 protein is down regulated through SLC45A3-ERG fusion in prostate cancer. (PMID:22821757)
- Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population. (PMID:23269536)
- genome-wide association studies show that the top SNP associated with log PSA 9Prostate-specific antigen) levels was rs2153904 in SLC45A3. (PMID:25434496)
- CTCF has a role in regulating SLC45A3-ELK4 Chimeric RNA (PMID:26938874)
- Identification of a novel autoimmune peptide epitope of prostein in prostate cancer has been reported. (PMID:27700103)
- Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits. (PMID:33045005)
- Mapping genetic variability in mature miRNAs and miRNA binding sites in prostate cancer. (PMID:34099864)
- Prostein expression in human tumors: a tissue microarray study on 19,202 tumors from 152 different Tumor entities. (PMID:38218896)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc45a3 | ENSDARG00000075975 |
| mus_musculus | Slc45a3 | ENSMUSG00000026435 |
| rattus_norvegicus | Slc45a3 | ENSRNOG00000007591 |
| drosophila_melanogaster | Slc45-1 | FBGN0035968 |
| drosophila_melanogaster | lovit | FBGN0267429 |
Paralogs (3): SLC45A4 (ENSG00000022567), SLC45A1 (ENSG00000162426), SLC45A2 (ENSG00000164175)
Protein
Protein identifiers
Solute carrier family 45 member 3 — Q96JT2 (reviewed: Q96JT2)
Alternative names: Prostate cancer-associated protein 6, Prostein
All UniProt accessions (1): Q96JT2
UniProt curated annotations — full annotation on UniProt →
Function. Proton-associated sucrose transporter. May be able to transport also glucose and fructose.
Subcellular location. Membrane.
Tissue specificity. Prostate specific. Expressed in all prostatic glandular cells. Expressed both in normal and cancerous prostates.
Induction. Up-regulated by androgens.
Miscellaneous. Marker for prostate cells. May be used, in case of prostate cancers, as a target antigen for prostate carcinomas-directed cytotoxic T-cell lymphocytes.
Similarity. Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.
RefSeq proteins (1): NP_149093* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011701 | MFS | Family |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
Pfam: PF07690
Catalyzed reactions (Rhea), 1 shown:
- sucrose(out) + H(+)(out) = sucrose(in) + H(+)(in) (RHEA:72187)
UniProt features (12 total): transmembrane region 11, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96JT2-F1 | 77.39 | 0.43 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-189200 | Cellular hexose transport |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 145 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_CARBOHYDRATE_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_NEUROGENESIS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_FATTY_ACID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS
GO Biological Process (6): hexose transmembrane transport (GO:0008645), positive regulation of glucose metabolic process (GO:0010907), sucrose transport (GO:0015770), positive regulation of fatty acid biosynthetic process (GO:0045723), regulation of oligodendrocyte differentiation (GO:0048713), transmembrane transport (GO:0055085)
GO Molecular Function (4): sucrose:proton symporter activity (GO:0008506), sugar transmembrane transporter activity (GO:0051119), symporter activity (GO:0015293), transmembrane transporter activity (GO:0022857)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transmembrane transport | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| monosaccharide transmembrane transport | 1 |
| glucose metabolic process | 1 |
| regulation of glucose metabolic process | 1 |
| positive regulation of carbohydrate metabolic process | 1 |
| positive regulation of small molecule metabolic process | 1 |
| disaccharide transport | 1 |
| fatty acid biosynthetic process | 1 |
| regulation of fatty acid biosynthetic process | 1 |
| positive regulation of fatty acid metabolic process | 1 |
| positive regulation of lipid biosynthetic process | 1 |
| regulation of glial cell differentiation | 1 |
| oligodendrocyte differentiation | 1 |
| transport | 1 |
| cellular process | 1 |
| carbohydrate:proton symporter activity | 1 |
| sucrose:monoatomic cation symporter activity | 1 |
| carbohydrate transmembrane transporter activity | 1 |
| secondary active transmembrane transporter activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1058 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC45A3 | ACP3 | P15309 | 915 |
| SLC45A3 | KLK3 | P07288 | 893 |
| SLC45A3 | ETV1 | P50549 | 891 |
| SLC45A3 | KLKB1 | P03952 | 859 |
| SLC45A3 | TMPRSS2 | O15393 | 857 |
| SLC45A3 | KLK2 | P20151 | 847 |
| SLC45A3 | ETV5 | P41161 | 809 |
| SLC45A3 | PM20D1 | Q6GTS8 | 808 |
| SLC45A3 | NUCKS1 | Q9H1E3 | 803 |
| SLC45A3 | SLC41A1 | Q8IVJ1 | 790 |
| SLC45A3 | ELK4 | P28323 | 775 |
| SLC45A3 | MSMB | P08118 | 769 |
| SLC45A3 | ETV4 | P43268 | 753 |
| SLC45A3 | RAB29 | O14966 | 753 |
| SLC45A3 | AMACR | Q9UHK6 | 703 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC45A3 | FANCE | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC45A3 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (97): SLC45A3 (Affinity Capture-MS), FANCE (Affinity Capture-MS), SLC45A3 (Affinity Capture-RNA), APEX1 (Affinity Capture-MS), ATXN2 (Affinity Capture-MS), CALD1 (Affinity Capture-MS), CCDC124 (Affinity Capture-MS), CDC5L (Affinity Capture-MS), CDKN2AIP (Affinity Capture-MS), CNOT2 (Affinity Capture-MS), CSDE1 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), CTTN (Affinity Capture-MS), DCTN2 (Affinity Capture-MS), DDX54 (Affinity Capture-MS)
ESM2 similar proteins: A0JP80, A1A5Z0, A5D6W6, A7YWN2, B2MVP8, B6CZ46, L5KLU7, O42153, O75783, O75908, O77759, O88908, P58872, P58873, P86243, Q1HG44, Q1KZG0, Q1XHX8, Q32LM8, Q49LS7, Q52KL1, Q5CZN0, Q5KR61, Q5T197, Q5TM67, Q5XIL6, Q6AX73, Q6AZ83, Q6MG14, Q6NSQ9, Q6P5W5, Q767L9, Q7TNJ2, Q7TQM4, Q80YU0, Q86VD9, Q8AVI9, Q8CIP5, Q8IWX5, Q8IXM6
Diamond homologs: A2ZN77, B8AF63, P58355, Q03411, Q0ILJ3, Q0P5V9, Q10R54, Q39231, Q39232, Q4LE88, Q5BKX6, Q6YK44, Q8BIV7, Q8K0H7, Q8K4S3, Q944W2, Q948L0, Q95KI5, Q96JT2, Q9FE59, Q9LKH3, Q9UMX9, Q9Y2W3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1216 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:205661858:TA:T | donor_loss | 1.0000 |
| 1:205661860:CCT:C | donor_loss | 1.0000 |
| 1:205661860:CCTG:C | donor_gain | 1.0000 |
| 1:205662124:CGC:C | acceptor_gain | 1.0000 |
| 1:205662827:CCTTA:C | donor_loss | 1.0000 |
| 1:205662828:CTTAC:C | donor_loss | 1.0000 |
| 1:205662829:TTA:T | donor_loss | 1.0000 |
| 1:205662830:TA:T | donor_loss | 1.0000 |
| 1:205662831:A:AT | donor_loss | 1.0000 |
| 1:205661863:G:A | donor_gain | 0.9900 |
| 1:205662125:GCC:G | acceptor_loss | 0.9900 |
| 1:205662127:C:CC | acceptor_gain | 0.9900 |
| 1:205663616:TGC:T | acceptor_gain | 0.9900 |
| 1:205663619:C:CC | acceptor_gain | 0.9900 |
| 1:205663619:CT:C | acceptor_loss | 0.9900 |
| 1:205664483:AC:A | donor_gain | 0.9900 |
| 1:205664484:CC:C | donor_gain | 0.9900 |
| 1:205676679:C:T | acceptor_gain | 0.9900 |
| 1:205680389:CCTA:C | donor_loss | 0.9900 |
| 1:205680390:CTA:C | donor_loss | 0.9900 |
| 1:205680393:C:CA | donor_loss | 0.9900 |
| 1:205662065:C:CT | acceptor_gain | 0.9800 |
| 1:205662125:GC:G | acceptor_gain | 0.9800 |
| 1:205662126:CC:C | acceptor_gain | 0.9800 |
| 1:205678660:A:AC | donor_gain | 0.9800 |
| 1:205678661:C:CC | donor_gain | 0.9800 |
| 1:205662123:ACGC:A | acceptor_gain | 0.9700 |
| 1:205662124:CGCC:C | acceptor_gain | 0.9700 |
| 1:205662831:A:AC | donor_gain | 0.9700 |
| 1:205662832:C:CC | donor_gain | 0.9700 |
AlphaMissense
3483 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:205662833:C:G | G320R | 0.997 |
| 1:205662906:G:C | F295L | 0.997 |
| 1:205662906:G:T | F295L | 0.997 |
| 1:205662908:A:G | F295L | 0.997 |
| 1:205662011:A:C | S358R | 0.996 |
| 1:205662011:A:T | S358R | 0.996 |
| 1:205662013:T:G | S358R | 0.996 |
| 1:205662833:C:A | G320C | 0.996 |
| 1:205662918:A:C | F291L | 0.996 |
| 1:205662918:A:T | F291L | 0.996 |
| 1:205662920:A:G | F291L | 0.996 |
| 1:205661928:C:T | G386E | 0.995 |
| 1:205662901:C:T | G297D | 0.995 |
| 1:205662948:G:C | S281R | 0.995 |
| 1:205662948:G:T | S281R | 0.995 |
| 1:205662950:T:G | S281R | 0.995 |
| 1:205663494:G:C | S99R | 0.995 |
| 1:205663494:G:T | S99R | 0.995 |
| 1:205663496:T:G | S99R | 0.995 |
| 1:205661929:C:A | G386W | 0.994 |
| 1:205662110:G:C | S325R | 0.994 |
| 1:205662110:G:T | S325R | 0.994 |
| 1:205662112:T:G | S325R | 0.994 |
| 1:205663566:A:C | S75R | 0.994 |
| 1:205663566:A:T | S75R | 0.994 |
| 1:205663568:T:G | S75R | 0.994 |
| 1:205661929:C:G | G386R | 0.993 |
| 1:205661929:C:T | G386R | 0.993 |
| 1:205662115:C:G | G324R | 0.993 |
| 1:205663268:C:G | G175R | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000303709 (1:205675187 G>C), RS1000346554 (1:205662919 A>T), RS1000465648 (1:205678564 C>T), RS1000557988 (1:205680470 C>T), RS1000575142 (1:205673702 G>A), RS1000672476 (1:205673986 G>A,C), RS1000979983 (1:205662351 G>A), RS1001118886 (1:205680093 G>A), RS1001159042 (1:205668520 C>A,G,T), RS1001202626 (1:205680359 C>T), RS1001457347 (1:205678452 G>C), RS1001460902 (1:205668344 C>T), RS1001619201 (1:205661521 A>T), RS1001787906 (1:205679655 G>A), RS1001794203 (1:205664588 C>G,T)
Disease associations
OMIM: gene MIM:605097 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): teratoma (MONDO:0002601)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000530_4 | Parkinson’s disease | 2.000000e-12 |
| GCST001134_2 | White blood cell types | 4.000000e-08 |
| GCST001796_1 | Prostate-specific antigen levels | 2.000000e-19 |
| GCST002476_1 | Prostate-specific antigen levels | 2.000000e-11 |
| GCST002703_1 | Prostate-specific antigen levels | 1.000000e-13 |
| GCST004093_26 | Prostate-specific antigen levels | 1.000000e-08 |
| GCST004345_2 | Elevated serum prostate-specific antigen levels in healthy men | 3.000000e-20 |
| GCST004618_2 | White blood cell count (basophil) | 5.000000e-12 |
| GCST004631_46 | Basophil percentage of white cells | 9.000000e-12 |
| GCST004634_5 | Basophil percentage of granulocytes | 2.000000e-10 |
| GCST005976_12 | White blood cell count (basophil) | 3.000000e-15 |
| GCST010697_7 | Cortical surface area (min-P) | 8.000000e-11 |
| GCST010698_41 | Subcortical volume (min-P) | 8.000000e-12 |
| GCST010699_29 | Brain morphology (min-P) | 3.000000e-09 |
| GCST010700_18 | Cortical thickness (MOSTest) | 5.000000e-12 |
| GCST010701_13 | Cortical surface area (MOSTest) | 3.000000e-08 |
| GCST010702_124 | Subcortical volume (MOSTest) | 3.000000e-09 |
| GCST010703_107 | Brain morphology (MOSTest) | 2.000000e-20 |
| GCST90002394_94 | Monocyte percentage of white cells | 1.000000e-17 |
| GCST90002409_15 | Childhood body mass index | 2.000000e-06 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005090 | basophil count |
| EFO:0007992 | basophil percentage of leukocytes |
| EFO:0007995 | basophil percentage of granulocytes |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004340 | body mass index |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D013724 | Teratoma | C04.557.465.910 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067581 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC45 family of putative sugar transporters
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | increases reaction, affects expression, affects cotreatment, increases expression | 4 |
| Dihydrotestosterone | increases reaction, increases expression, decreases reaction | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| merbarone | decreases reaction, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | decreases expression, increases response to substance | 1 |
| Copper | decreases expression, affects binding | 1 |
| Etoposide | decreases reaction, increases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | affects expression | 1 |
| Triclosan | increases expression | 1 |
| Metribolone | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5650462 | Binding | Inhibition of human SLC45A3 at 10 uM by radioligand binding assay relative to control | Discovery of a selective catalytic p300/CBP inhibitor that targets lineage-specific tumours. — Nature |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4PC | HCT116-SLC45A3-KO-c10 | Cancer cell line | Male |
| CVCL_D4PD | HCT116-SLC45A3-KO-c6 | Cancer cell line | Male |
| CVCL_TN79 | HAP1 SLC45A3 (-) 1 | Cancer cell line | Male |
| CVCL_TN80 | HAP1 SLC45A3 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
18 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00104676 | PHASE3 | COMPLETED | Combination Chemotherapy in Treating Patients With Stage II or Stage III Germ Cell Tumors |
| NCT02375204 | PHASE3 | ACTIVE_NOT_RECRUITING | Standard-Dose Combination Chemotherapy or High-Dose Combination Chemotherapy and Stem Cell Transplant in Treating Patients with Relapsed or Refractory Germ Cell Tumors |
| NCT00002931 | PHASE2 | COMPLETED | Combination Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Patients With Relapsed Germ Cell Cancer |
| NCT00301782 | PHASE2 | COMPLETED | Combination Chemotherapy in Treating Male Patients With Germ Cell Tumors |
| NCT00432094 | PHASE2 | COMPLETED | Autologous Peripheral Blood Stem Cell Transplant for Germ Cell Tumors |
| NCT00453232 | PHASE2 | COMPLETED | Combination Chemotherapy and Pegfilgrastim in Treating Men With Metastatic Germ Cell Tumors |
| NCT00453310 | PHASE2 | COMPLETED | Sunitinib in Treating Patients With Metastatic Germ Cell Tumors That Have Relapsed or Not Responded to Treatment |
| NCT00470366 | PHASE2 | COMPLETED | Combination Chemotherapy and Pegfilgrastim in Treating Patients With Previously Untreated Germ Cell Tumors |
| NCT02300987 | PHASE2 | COMPLETED | A Randomized, Blinded, Placebo-controlled, Phase II Trial of LEE011 in Patients With Relapsed, Refractory, Incurable Teratoma With Recent Progression |
| NCT00003643 | PHASE2/PHASE3 | UNKNOWN | Combination Chemotherapy in Treating Men With Germ Cell Cancer |
| NCT00423852 | PHASE1/PHASE2 | COMPLETED | Paclitaxel, Ifosfamide, and Carboplatin Followed By Autologous Stem Cell Transplant in Treating Patients With Germ Cell Tumors That Did Not Respond to Cisplatin |
| NCT00687778 | Not specified | UNKNOWN | 11C-Acetate PET/CT Non-FDG-Avid Tumors |
| NCT00836121 | Not specified | COMPLETED | Anterior Mediastinum Teratoma: A Case Report |
| NCT05179850 | Not specified | UNKNOWN | Computer Aided Diagnostic Tool on Computed Tomography Images for Diagnosis of Retroperitoneal Tumor in Children |
| NCT05187923 | Not specified | UNKNOWN | Computer Aided Tool for Diagnosis of Neck Masses in Children |
| NCT05564026 | Not specified | RECRUITING | Molecular Epidemiology of Pediatric Germ Cell Tumors |
| NCT06421805 | Not specified | RECRUITING | Establishing Prospective Mediastinal Tumor Database of PUMCH |
| NCT07199699 | Not specified | NOT_YET_RECRUITING | Subxiphoid VATS for Giant Mediastinal Teratoma |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): teratoma