SLC35H1

Summary

SLC35H1 (solute carrier family 35 member H1, HGNC:17117) is a protein-coding gene on chromosome 20q13.12, encoding Solute carrier family 35 member H1 (Q9NQQ7). Putative GDP-fucose transporter.

This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome.

Source: NCBI Gene 51006 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_015945

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17117
Approved symbol	SLC35H1
Name	solute carrier family 35 member H1
Location	20q13.12
Locus type	gene with protein product
Status	Approved
Aliases	CGI-15, bA394O2.1
Ensembl gene	ENSG00000080189
Ensembl biotype	protein_coding
OMIM	619530
Entrez	51006

Gene structure

Transcript identifiers

Ensembl transcripts: 63 — 57 protein_coding, 6 protein_coding_CDS_not_defined

ENST00000243896, ENST00000317734, ENST00000372227, ENST00000372230, ENST00000420518, ENST00000424568, ENST00000480329, ENST00000481809, ENST00000484188, ENST00000484318, ENST00000487729, ENST00000493599, ENST00000543605, ENST00000873046, ENST00000873047, ENST00000873048, ENST00000873049, ENST00000873050, ENST00000873051, ENST00000873052, ENST00000873053, ENST00000873054, ENST00000873055, ENST00000873056, ENST00000873057, ENST00000873058, ENST00000873059, ENST00000873060, ENST00000873061, ENST00000873062, ENST00000873063, ENST00000873064, ENST00000873065, ENST00000921066, ENST00000921067, ENST00000921068, ENST00000921069, ENST00000921070, ENST00000921071, ENST00000921072, ENST00000921073, ENST00000921074, ENST00000921075, ENST00000921076, ENST00000921077, ENST00000921078, ENST00000921079, ENST00000921080, ENST00000921081, ENST00000921082, ENST00000921083, ENST00000921084, ENST00000921085, ENST00000947088, ENST00000947089, ENST00000947090, ENST00000947091, ENST00000947092, ENST00000947093, ENST00000947094, ENST00000947095, ENST00000947096, ENST00000947097

RefSeq mRNA: 7 — MANE Select: NM_015945 NM_001281457, NM_001281458, NM_001281459, NM_001281460, NM_015945, NM_173073, NM_173179

CCDS: CCDS13396, CCDS13397, CCDS63292

Canonical transcript exons

ENST00000372230 — 10 exons

Exon	Start	End
ENSE00001123561	46357623	46357773
ENSE00001676497	46350761	46350890
ENSE00001816621	46364371	46364425
ENSE00003466882	46358387	46358763
ENSE00003507893	46355073	46355241
ENSE00003511266	46356574	46356637
ENSE00003586539	46352051	46352226
ENSE00003611269	46355802	46355874
ENSE00003693345	46354882	46354965
ENSE00003848226	46345984	46350524

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 96.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.8248 / max 133.8733, expressed in 1811 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187557	16.2012	1811
187553	0.5726	317
187555	0.0510	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	96.95	gold quality
right uterine tube	UBERON:0001302	95.31	gold quality
granulocyte	CL:0000094	95.21	gold quality
left lobe of thyroid gland	UBERON:0001120	94.93	gold quality
right lobe of thyroid gland	UBERON:0001119	94.88	gold quality
stromal cell of endometrium	CL:0002255	94.61	gold quality
right adrenal gland cortex	UBERON:0035827	94.40	gold quality
left adrenal gland cortex	UBERON:0035825	94.31	gold quality
right ovary	UBERON:0002118	94.27	gold quality
minor salivary gland	UBERON:0001830	94.19	gold quality
adrenal cortex	UBERON:0001235	94.12	gold quality
skin of leg	UBERON:0001511	94.12	gold quality
thyroid gland	UBERON:0002046	94.10	gold quality
left adrenal gland	UBERON:0001234	94.09	gold quality
left ovary	UBERON:0002119	94.09	gold quality
endocervix	UBERON:0000458	94.07	gold quality
right adrenal gland	UBERON:0001233	94.02	gold quality
body of stomach	UBERON:0001161	93.99	gold quality
skin of abdomen	UBERON:0001416	93.99	gold quality
body of pancreas	UBERON:0001150	93.92	gold quality
lower esophagus mucosa	UBERON:0035834	93.92	gold quality
saliva-secreting gland	UBERON:0001044	93.72	gold quality
right lobe of liver	UBERON:0001114	93.66	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.66	gold quality
mucosa of stomach	UBERON:0001199	93.59	gold quality
ectocervix	UBERON:0012249	93.57	gold quality
gall bladder	UBERON:0002110	93.48	gold quality
body of uterus	UBERON:0009853	93.47	gold quality
spleen	UBERON:0002106	93.37	gold quality
mucosa of transverse colon	UBERON:0004991	93.25	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)

22 targeting SLC35H1, 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-3925-3P	100.00	69.95	1237
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-3074-5P	98.82	66.56	1414
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-3921	97.81	67.45	1431
HSA-MIR-4676-5P	97.54	65.29	715
HSA-MIR-575	97.54	65.18	718
HSA-MIR-4653-5P	97.22	67.72	1429
HSA-MIR-2114-5P	96.00	64.56	617
HSA-MIR-4522	95.76	66.23	742

Literature-anchored findings (GeneRIF, showing 2)

• Assignment of OVCOV1 (alias CGI-15) to human chromosome 20 band q13.1–>q13.2 by fluorescent in situ hybridization (PMID:11856893)
• In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2. (PMID:38270391)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc35c2	ENSDARG00000037517
mus_musculus	Slc35c2	ENSMUSG00000017664
rattus_norvegicus	Slc35c2	ENSRNOG00000018649
drosophila_melanogaster	CG14971	FBGN0035449
caenorhabditis_elegans	Y47G6A.7	WBGENE00021637

Paralogs (9): SLC35E4 (ENSG00000100036), SLC35D1 (ENSG00000116704), SLC35E1 (ENSG00000127526), SLC35D2 (ENSG00000130958), TMEM241 (ENSG00000134490), SLC35E3 (ENSG00000175782), SLC35C1 (ENSG00000181830), SLC35D3 (ENSG00000182747), SLC35E2B (ENSG00000189339)

Protein

Protein identifiers

Solute carrier family 35 member H1 — Q9NQQ7 (reviewed: Q9NQQ7)

Alternative names: Ovarian cancer-overexpressed gene 1 protein, Solute carrier family 35 member C2

All UniProt accessions (3): Q9NQQ7, Q5JW03, Q5JW04

UniProt curated annotations — full annotation on UniProt →

Function. Putative GDP-fucose transporter.

Subcellular location. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane.

Tissue specificity. Ubiquitously expressed although the level of expression is tissue dependent. Overexpressed in ovarian cancer.

Induction. In hypoxic trophoblast cells.

Similarity. Belongs to the TPT transporter family. SLC35 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NQQ7-1	1	yes
Q9NQQ7-2	2
Q9NQQ7-3	3

RefSeq proteins (7): NP_001268386, NP_001268387, NP_001268388, NP_001268389, NP_057029, NP_775096, NP_775271 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004853	Sugar_P_trans_dom	Domain
IPR050186	TPT_transporter	Family

Pfam: PF03151

UniProt features (18 total): transmembrane region 8, sequence conflict 3, modified residue 2, splice variant 2, chain 1, glycosylation site 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQQ7-F1	83.05	0.54

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 335, 336

Glycosylation sites (1): 102

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 138 (showing top): TSENG_IRS1_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, CAGCTG_AP4_Q5, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, HFH8_01, TGTGTGA_MIR377, FOXJ2_01, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, HFH3_01, GOBP_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS

GO Biological Process (5): negative regulation of gene expression (GO:0010629), UDP-glucose transmembrane transport (GO:0015786), protein O-linked glycosylation via fucose (GO:0036066), positive regulation of Notch signaling pathway (GO:0045747), obsolete fucosylation (GO:0036065)

GO Molecular Function (2): antiporter activity (GO:0015297), protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), cis-Golgi network (GO:0005801), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	3
cellular anatomical structure	2
cytoplasm	2
gene expression	1
regulation of gene expression	1
negative regulation of macromolecule biosynthetic process	1
pyrimidine nucleotide-sugar transmembrane transport	1
protein O-linked glycosylation	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
positive regulation of signal transduction	1
secondary active transmembrane transporter activity	1
binding	1
nuclear lumen	1
endomembrane system	1
Golgi apparatus	1
endoplasmic reticulum-Golgi intermediate compartment	1
bounding membrane of organelle	1

Protein interactions and networks

STRING

1248 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC35H1	SLC35C1	Q96A29	789
SLC35H1	SLC35B4	Q969S0	715
SLC35H1	SLC35E1	Q96K37	688
SLC35H1	SLC35B3	Q9H1N7	664
SLC35H1	SLC35D1	Q9NTN3	651
SLC35H1	FPGT	O14772	619
SLC35H1	SLC35D2	Q76EJ3	587
SLC35H1	SLC35E3	Q7Z769	575
SLC35H1	SLC35A5	Q9BS91	570
SLC35H1	SLC35D3	Q5M8T2	558
SLC35H1	SLC35F3	Q8IY50	552
SLC35H1	SLC35B1	P78383	547
SLC35H1	SLC35F1	Q5T1Q4	544
SLC35H1	SLC35A1	P78382	539
SLC35H1	SLC35A4	Q96G79	536

IntAct

5 interactions, top by confidence:

A	B	Type	Score
CREB3	SLC35C2	psi-mi:“MI:0915”(physical association)	0.550
SLC35C2	CREB3	psi-mi:“MI:0915”(physical association)	0.550
SLC35C2	PGRMC1	psi-mi:“MI:0914”(association)	0.350
SLC35C2		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (216): SLC35C2 (Two-hybrid), SLC35C2 (Affinity Capture-RNA), CREB3 (Two-hybrid), SLC35C2 (Two-hybrid), SLC35C2 (Two-hybrid), SLC35C2 (Two-hybrid), SLC35C2 (Two-hybrid), FXYD3 (Two-hybrid), CNIH1 (Two-hybrid), VTI1B (Two-hybrid), SYNDIG1 (Two-hybrid), PLP2 (Two-hybrid), LEPROTL1 (Two-hybrid), ATP13A1 (Two-hybrid), UNC93B1 (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: Q10354, Q8H184, Q8VCX2, Q9NQQ7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1795 predictions. Top by Δscore:

Variant	Effect	Δscore
20:46350522:CACC:C	acceptor_loss	1.0000
20:46350522:CACCT:C	acceptor_gain	1.0000
20:46350526:T:C	acceptor_gain	1.0000
20:46350428:T:TA	donor_gain	0.9900
20:46350443:T:TA	donor_gain	0.9900
20:46350521:TCAC:T	acceptor_gain	0.9900
20:46350522:CAC:C	acceptor_gain	0.9900
20:46350524:CCT:C	acceptor_gain	0.9900
20:46350525:C:CC	acceptor_gain	0.9900
20:46350526:T:TC	acceptor_gain	0.9900
20:46350531:A:AC	acceptor_gain	0.9900
20:46350647:T:TA	donor_gain	0.9900
20:46350887:CTTC:C	acceptor_gain	0.9900
20:46352045:CTGTA:C	donor_loss	0.9900
20:46352046:TGTA:T	donor_loss	0.9900
20:46352047:GTA:G	donor_loss	0.9900
20:46352048:TA:T	donor_loss	0.9900
20:46352049:A:AT	donor_loss	0.9900
20:46352050:C:CG	donor_loss	0.9900
20:46355068:CT:C	donor_loss	0.9900
20:46355069:TCACC:T	donor_loss	0.9900
20:46355070:CACCG:C	donor_loss	0.9900
20:46355071:A:AC	donor_gain	0.9900
20:46355072:C:CC	donor_gain	0.9900
20:46355072:C:CT	donor_loss	0.9900
20:46355180:T:C	acceptor_gain	0.9900
20:46355180:T:TC	acceptor_gain	0.9900
20:46356572:A:AC	donor_gain	0.9900
20:46356573:C:CC	donor_gain	0.9900
20:46356573:CAG:C	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000016520 (20:46353193 A>G), RS1000065648 (20:46365310 C>A), RS1000069425 (20:46347677 G>C), RS1000215883 (20:46356131 C>T), RS1000326702 (20:46363665 T>A,C), RS1000705363 (20:46362547 C>T), RS1000815453 (20:46357220 C>G,T), RS1001054450 (20:46362305 G>T), RS1001086977 (20:46348582 G>A), RS1001204946 (20:46353583 G>A), RS1001303565 (20:46348025 G>A), RS1001354485 (20:46348257 G>A,C), RS1001573395 (20:46365667 G>A,T), RS1001651286 (20:46348646 G>A,C), RS1001767294 (20:46360202 C>T)

Disease associations

OMIM: gene MIM:619530 | 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

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
sodium arsenite	affects methylation	1
cobaltous chloride	decreases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
3-iodothyronamine	affects uptake	1
abrine	increases expression	1
jinfukang	increases expression	1
MT19c compound	decreases expression	1
Bortezomib	decreases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	increases methylation	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Metribolone	increases expression	1
Acrylamide	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4M7	HCT116-SLC35C2-KO-c18	Cancer cell line	Male
CVCL_D4M8	HCT116-SLC35C2-KO-c7	Cancer cell line	Male
CVCL_TN15	HAP1 SLC35C2 (-) 1	Cancer cell line	Male
CVCL_XT22	HAP1 SLC35C2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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