SLC35E3

gene
On this page

Also known as BLOV1

Summary

SLC35E3 (solute carrier family 35 member E3, HGNC:20864) is a protein-coding gene on chromosome 12q15, encoding Solute carrier family 35 member E3 (Q7Z769). Putative transporter.

Predicted to enable antiporter activity and nucleotide-sugar transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. Predicted to be active in Golgi apparatus.

Source: NCBI Gene 55508 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 38 total
  • MANE Select transcript: NM_018656

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20864
Approved symbolSLC35E3
Namesolute carrier family 35 member E3
Location12q15
Locus typegene with protein product
StatusApproved
AliasesBLOV1
Ensembl geneENSG00000175782
Ensembl biotypeprotein_coding
OMIM620355
Entrez55508

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 4 protein_coding_CDS_not_defined, 4 protein_coding, 2 nonsense_mediated_decay

ENST00000319429, ENST00000398004, ENST00000399333, ENST00000431174, ENST00000538043, ENST00000673712, ENST00000674096, ENST00000864466, ENST00000864467, ENST00000940884

RefSeq mRNA: 3 — MANE Select: NM_018656 NM_001354997, NM_001354998, NM_018656

CCDS: CCDS41808

Canonical transcript exons

ENST00000398004 — 5 exons

ExonStartEnd
ENSE000012400966874793068748040
ENSE000014216496876470468781468
ENSE000015311496874617668746779
ENSE000035772786875915768759239
ENSE000036494246875203268752190

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 88.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.1578 / max 322.8180, expressed in 1802 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1266139.72391788
1266141.6564960
1266151.4468743
1266121.3307824

Top tissues by expression

278 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
endothelial cellCL:000011588.96gold quality
tibiaUBERON:000097988.20gold quality
subthalamic nucleusUBERON:000190687.48silver quality
nephron tubuleUBERON:000123187.25gold quality
inferior vagus X ganglionUBERON:000536386.38silver quality
visceral pleuraUBERON:000240185.63gold quality
cerebellar vermisUBERON:000472085.61gold quality
esophagus squamous epitheliumUBERON:000692085.00gold quality
lower lobe of lungUBERON:000894984.51gold quality
epithelium of esophagusUBERON:000197684.42gold quality
parietal pleuraUBERON:000240084.31gold quality
renal glomerulusUBERON:000007484.02silver quality
pleuraUBERON:000097783.96gold quality
metanephric glomerulusUBERON:000473683.85silver quality
dorsal plus ventral thalamusUBERON:000189783.27silver quality
bronchial epithelial cellCL:000232883.10gold quality
germinal epithelium of ovaryUBERON:000130482.93gold quality
spinal cordUBERON:000224082.76gold quality
ventral tegmental areaUBERON:000269182.58silver quality
superior vestibular nucleusUBERON:000722782.38silver quality
C1 segment of cervical spinal cordUBERON:000646982.37gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099181.99gold quality
postcentral gyrusUBERON:000258181.78silver quality
superior surface of tongueUBERON:000737181.72silver quality
kidney epitheliumUBERON:000481981.64silver quality
palpebral conjunctivaUBERON:000181281.62gold quality
epithelium of nasopharynxUBERON:000195181.46silver quality
parietal lobeUBERON:000187281.27silver quality
epithelium of mammary glandUBERON:000324481.18silver quality
mammary ductUBERON:000176581.15silver quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 11.

ExperimentMarker?Max mean expression
E-GEOD-150728yes4012.20
E-HCAD-31yes2210.20
E-MTAB-7407yes1126.63
E-GEOD-106540yes693.45
E-GEOD-111727yes632.34
E-MTAB-5061yes503.87
E-MTAB-8142yes87.46
E-CURD-88yes45.76
E-CURD-46yes35.03
E-MTAB-6701yes8.80
E-ANND-3yes7.43
E-HCAD-6no1581.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

52 targeting SLC35E3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-8485100.0077.574731
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-3924100.0072.092394
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-511-3P99.9968.851467
HSA-MIR-150-5P99.9966.691976
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-569699.9872.364487
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-515-5P99.9269.822343
HSA-MIR-519E-5P99.9269.622358
HSA-MIR-153-5P99.8973.866317
HSA-MIR-394199.8670.542735
HSA-MIR-807699.7868.521170
HSA-MIR-472999.6972.184233
HSA-MIR-130399.6569.771662
HSA-MIR-129099.5969.902079
HSA-MIR-3136-3P99.5766.59781
HSA-MIR-7155-3P99.5766.48794
HSA-MIR-1252-3P99.5567.712862
HSA-MIR-464399.4967.631791
HSA-MIR-312399.4767.152693
HSA-MIR-806499.4566.92875
HSA-MIR-464499.3569.122514
HSA-MIR-504-3P99.3067.181745

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioslc35e3ENSDARG00000045493
mus_musculusSlc35e3ENSMUSG00000060181
rattus_norvegicusSlc35e3ENSRNOG00000027622

Paralogs (9): SLC35C2 (ENSG00000080189), SLC35E4 (ENSG00000100036), SLC35D1 (ENSG00000116704), SLC35E1 (ENSG00000127526), SLC35D2 (ENSG00000130958), TMEM241 (ENSG00000134490), SLC35C1 (ENSG00000181830), SLC35D3 (ENSG00000182747), SLC35E2B (ENSG00000189339)

Protein

Protein identifiers

Solute carrier family 35 member E3Q7Z769 (reviewed: Q7Z769)

Alternative names: Bladder cancer-overexpressed gene 1 protein

All UniProt accessions (3): Q7Z769, A0A669KB01, A0A669KB59

UniProt curated annotations — full annotation on UniProt →

Function. Putative transporter.

Subcellular location. Membrane.

Similarity. Belongs to the TPT transporter family. SLC35E subfamily.

RefSeq proteins (3): NP_001341926, NP_001341927, NP_061126* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR004853Sugar_P_trans_domDomain
IPR037185EmrE-likeHomologous_superfamily
IPR050186TPT_transporterFamily

Pfam: PF03151

UniProt features (13 total): transmembrane region 9, sequence conflict 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q7Z769-F187.340.56

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 106 (showing top): WANG_CLIM2_TARGETS_UP, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, ONKEN_UVEAL_MELANOMA_UP, INGRAM_SHH_TARGETS_UP, GOMF_NUCLEOBASE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, NIKOLSKY_BREAST_CANCER_12Q13_Q21_AMPLICON, DOUGLAS_BMI1_TARGETS_DN, ACEVEDO_LIVER_CANCER_UP, GOBP_CARBOHYDRATE_DERIVATIVE_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, ZHANG_GATA6_TARGETS_DN, GOMF_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, RHEIN_ALL_GLUCOCORTICOID_THERAPY_DN, GOMF_ORGANOPHOSPHATE_ESTER_TRANSMEMBRANE_TRANSPORTER_ACTIVITY

GO Biological Process (4): transmembrane transport (GO:0055085), organophosphate ester transport (GO:0015748), nucleobase-containing compound transport (GO:0015931), carbohydrate derivative transport (GO:1901264)

GO Molecular Function (3): nucleotide-sugar transmembrane transporter activity (GO:0005338), antiporter activity (GO:0015297), protein binding (GO:0005515)

GO Cellular Component (2): Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transport3
cellular process1
nitrogen compound transport1
organophosphate ester transmembrane transporter activity1
nucleobase-containing compound transmembrane transporter activity1
carbohydrate derivative transmembrane transporter activity1
secondary active transmembrane transporter activity1
binding1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
cellular anatomical structure1

Protein interactions and networks

STRING

722 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SLC35E3SLC35H1Q9NQQ7575
SLC35E3NUP107P57740558
SLC35E3SLC35C1Q96A29528
SLC35E3SLC35G1Q2M3R5523
SLC35E3CDK10Q15131512
SLC35E3RNF217Q8TC41486
SLC35E3SLC35D1Q9NTN3482
SLC35E3SLC35F3Q8IY50476
SLC35E3KRT7P08729467
SLC35E3SHISA4Q96DD7416
SLC35E3DCXRQ7Z4W1415
SLC35E3YEATS4O95619407
SLC35E3SLC35G2Q8TBE7406
SLC35E3SLC35E2AP0CK97405
SLC35E3SLC35B2Q8TB61395

IntAct

75 interactions, top by confidence:

ABTypeScore
SLC35E3RNF5psi-mi:“MI:0915”(physical association)0.560
FXYD6SLC35E3psi-mi:“MI:0915”(physical association)0.560
CSGALNACT2SLC35E3psi-mi:“MI:0915”(physical association)0.560
GPR25SLC35E3psi-mi:“MI:0915”(physical association)0.560
SLC35E3SSMEM1psi-mi:“MI:0915”(physical association)0.560
SLC35E3SPG21psi-mi:“MI:0915”(physical association)0.560
SLC35E3SELENOKpsi-mi:“MI:0915”(physical association)0.560
BIKSLC35E3psi-mi:“MI:0915”(physical association)0.560
SLC35E3TMEM14Bpsi-mi:“MI:0915”(physical association)0.560
FAM209ASLC35E3psi-mi:“MI:0915”(physical association)0.560
SLC35E3ARLNpsi-mi:“MI:0915”(physical association)0.560
BNIP2SLC35E3psi-mi:“MI:0915”(physical association)0.560
TTPASLC35E3psi-mi:“MI:0915”(physical association)0.560
GET1SLC35E3psi-mi:“MI:0915”(physical association)0.560
SLC35E3TMEM60psi-mi:“MI:0915”(physical association)0.560
SLC35E3TMEM234psi-mi:“MI:0915”(physical association)0.560
SLC35E3FXYD6psi-mi:“MI:0915”(physical association)0.560
PLP1SLC35E3psi-mi:“MI:0915”(physical association)0.560
SLC35E3BCL2L2psi-mi:“MI:0915”(physical association)0.560
SLC35E3CSGALNACT2psi-mi:“MI:0915”(physical association)0.560
ADIPOQSLC35E3psi-mi:“MI:0915”(physical association)0.560
FFAR2SLC35E3psi-mi:“MI:0915”(physical association)0.560
SLC35E3SLC66A2psi-mi:“MI:0915”(physical association)0.560
ATP6V0CSLC35E3psi-mi:“MI:0915”(physical association)0.560
SLC35E3LNPEPpsi-mi:“MI:0915”(physical association)0.560

BioGRID (78): SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid), SLC35E3 (Two-hybrid)

ESM2 similar proteins: A0JMG9, A4IFK2, A4IHW3, A6QM03, A7S1L6, A7TES5, O74750, Q02334, Q05B73, Q17CE7, Q1JQ66, Q29EY2, Q29Q28, Q3E6T0, Q5M8T2, Q5RA79, Q61420, Q6CR04, Q6FSF8, Q6GQ70, Q6PGC7, Q753T9, Q755H7, Q7Q5D4, Q7Z769, Q84L08, Q8AWB6, Q8AXS6, Q8BGF8, Q8BLX4, Q8VCX2, Q8WZJ9, Q90X48, Q91ZR7, Q93890, Q94EI9, Q968A5, Q96A29, Q96G79, Q9C8M1

Diamond homologs: A4IFK2, F4IHS9, Q1JQ66, Q6PGC7, Q7Z769, Q8GUJ1, Q8RWW7, Q8RXL8, Q9FDZ5, Q9SZ96, Q9FIH5, Q9LPU2, Q9LU76, Q9SRE4, Q9FG70

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

38 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance30
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1247 predictions. Top by Δscore:

VariantEffectΔscore
12:68746775:CGCTG:Cdonor_gain1.0000
12:68746776:GCTG:Gdonor_gain1.0000
12:68746776:GCTGG:Gdonor_gain1.0000
12:68746777:CTG:Cdonor_gain1.0000
12:68746778:TG:Tdonor_gain1.0000
12:68746778:TGGTG:Tdonor_loss1.0000
12:68746779:GG:Gdonor_gain1.0000
12:68746779:GGT:Gdonor_loss1.0000
12:68746780:G:GGdonor_gain1.0000
12:68746780:GTGA:Gdonor_loss1.0000
12:68746781:T:Gdonor_loss1.0000
12:68752030:A:AGacceptor_gain1.0000
12:68752030:AGTG:Aacceptor_gain1.0000
12:68752031:G:GAacceptor_gain1.0000
12:68752031:GT:Gacceptor_gain1.0000
12:68752031:GTGG:Gacceptor_gain1.0000
12:68752189:TGGTA:Tdonor_loss1.0000
12:68752190:GGTAA:Gdonor_loss1.0000
12:68752192:T:Adonor_loss1.0000
12:68746782:GAGTA:Gdonor_loss0.9900
12:68748014:GTTTT:Gdonor_gain0.9900
12:68748038:GTG:Gdonor_gain0.9900
12:68752006:GACAT:Gacceptor_gain0.9900
12:68752026:TTTCA:Tacceptor_loss0.9900
12:68752027:TTCA:Tacceptor_loss0.9900
12:68752028:TCA:Tacceptor_loss0.9900
12:68752030:AGT:Aacceptor_gain0.9900
12:68752031:GTG:Gacceptor_gain0.9900
12:68752191:G:GGdonor_gain0.9900
12:68752193:AA:Adonor_loss0.9900

AlphaMissense

2020 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:68746698:G:CK107N0.999
12:68746698:G:TK107N0.999
12:68746627:T:CF84L0.998
12:68746629:C:AF84L0.998
12:68746629:C:GF84L0.998
12:68746636:T:CF87L0.998
12:68746638:T:AF87L0.998
12:68746638:T:GF87L0.998
12:68746653:C:AN92K0.998
12:68746653:C:GN92K0.998
12:68746655:T:CL93P0.998
12:68746661:T:CL95P0.998
12:68746671:C:AN98K0.998
12:68746671:C:GN98K0.998
12:68747945:G:CG140R0.998
12:68747946:G:AG140D0.998
12:68752078:T:CL187P0.998
12:68752081:T:CL188P0.998
12:68759198:C:AN238K0.998
12:68759198:C:GN238K0.998
12:68764795:G:CG283R0.998
12:68746475:A:TK33I0.997
12:68746476:A:CK33N0.997
12:68746476:A:TK33N0.997
12:68746499:T:CF41S0.997
12:68746510:A:CS45R0.997
12:68746512:C:AS45R0.997
12:68746512:C:GS45R0.997
12:68746514:T:CL46P0.997
12:68746576:T:CF67L0.997

dbSNP variants (sampled 300 via entrez): RS1000112167 (12:68778504 T>C), RS1000115315 (12:68770447 G>A), RS1000116096 (12:68748035 C>G), RS1000135395 (12:68757536 T>C), RS1000163438 (12:68757953 G>A,C), RS1000210025 (12:68753384 T>A), RS1000532240 (12:68760105 C>T), RS1000544501 (12:68778734 G>A,T), RS1000602571 (12:68765738 T>C), RS1000608193 (12:68746136 C>G,T), RS1000797781 (12:68779217 CA>C), RS1000823801 (12:68772820 C>A,G,T), RS1000828897 (12:68778972 G>T), RS1001159878 (12:68766757 A>G), RS1001199037 (12:68757678 A>G)

Disease associations

OMIM: gene MIM:620355 | 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):

StudyTraitp-value
GCST000589_1White blood cell count3.000000e-08
GCST90002396_530Mean reticulocyte volume5.000000e-09

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0010701mean reticulocyte volume

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

29 total (human), top 29 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, increases expression2
Cisplatinaffects cotreatment, increases expression2
Valproic Acidaffects expression, increases expression2
triphenyl phosphateaffects expression1
sodium arseniteaffects cotreatment, decreases expression, increases abundance1
butyraldehydedecreases expression1
perfluorooctanoic aciddecreases expression1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
potassium chromate(VI)affects cotreatment, decreases expression1
epigallocatechin gallateaffects cotreatment, decreases expression1
jinfukangaffects cotreatment, increases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Resveratrolaffects cotreatment, increases expression1
Acetaminophenincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Arsenicincreases abundance, affects cotreatment, decreases expression1
Doxorubicindecreases expression1
Environmental Pollutantsaffects expression1
Ethyl Methanesulfonateincreases expression1
Formaldehydeincreases expression1
Manganeseaffects cotreatment, decreases expression, increases abundance1
Nickeldecreases expression1
Plant Extractsaffects cotreatment, increases expression1
Tetrachlorodibenzodioxinaffects expression1
Tretinoindecreases expression1
Cyclosporinedecreases expression1
Aflatoxin B1affects expression1
Okadaic Acidincreases expression1
Particulate Matterdecreases expression, increases abundance1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D4MFHCT116-SLC35E3-KO-c7Cancer cell lineMale
CVCL_D4MGHCT116-SLC35E3-KO-c9Cancer cell lineMale
CVCL_TN23HAP1 SLC35E3 (-) 1Cancer cell lineMale
CVCL_XT24HAP1 SLC35E3 (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.