SLC61A1

Summary

SLC61A1 (solute carrier family 61 member 1, HGNC:28156) is a protein-coding gene on chromosome 12q13.13, encoding Solute carrier family 61 member 1 (Q6N075). Mediates high-affinity intracellular uptake of the rare oligo-element molybdenum.

Enables molybdate ion transmembrane transporter activity. Involved in molybdate ion transport. Located in membrane.

Source: NCBI Gene 84975 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_032889

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28156
Approved symbol	SLC61A1
Name	solute carrier family 61 member 1
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	MGC11308, HsMOT2
Ensembl gene	ENSG00000182544
Ensembl biotype	protein_coding
OMIM	620345
Entrez	84975

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000329548, ENST00000534842, ENST00000546655, ENST00000551660, ENST00000552097, ENST00000882368, ENST00000913007

RefSeq mRNA: 2 — MANE Select: NM_032889 NM_001170790, NM_032889

CCDS: CCDS53796, CCDS8851

Canonical transcript exons

ENST00000329548 — 2 exons

Exon	Start	End
ENSE00001308905	53252095	53252268
ENSE00002282354	53252818	53254406

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 95.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.3033 / max 118.9985, expressed in 1811 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125727	11.2923	1789
125726	7.8180	1779
125728	1.1930	895

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	95.94	gold quality
esophagus mucosa	UBERON:0002469	93.71	gold quality
skin of leg	UBERON:0001511	93.53	gold quality
skin of abdomen	UBERON:0001416	93.19	gold quality
esophagus squamous epithelium	UBERON:0006920	92.77	gold quality
epithelium of esophagus	UBERON:0001976	92.57	gold quality
zone of skin	UBERON:0000014	92.34	gold quality
mucosa of transverse colon	UBERON:0004991	92.29	gold quality
right adrenal gland cortex	UBERON:0035827	91.03	gold quality
granulocyte	CL:0000094	90.98	gold quality
right adrenal gland	UBERON:0001233	90.82	gold quality
left adrenal gland	UBERON:0001234	90.41	gold quality
left adrenal gland cortex	UBERON:0035825	89.84	gold quality
gingiva	UBERON:0001828	89.23	gold quality
esophagus	UBERON:0001043	89.18	gold quality
gingival epithelium	UBERON:0001949	88.97	gold quality
adrenal cortex	UBERON:0001235	88.82	gold quality
adrenal gland	UBERON:0002369	88.47	gold quality
apex of heart	UBERON:0002098	88.40	gold quality
stromal cell of endometrium	CL:0002255	88.28	gold quality
leukocyte	CL:0000738	88.21	gold quality
oral cavity	UBERON:0000167	88.09	gold quality
monocyte	CL:0000576	88.02	gold quality
mononuclear cell	CL:0000842	87.89	gold quality
mouth mucosa	UBERON:0003729	87.79	gold quality
squamous epithelium	UBERON:0006914	87.76	gold quality
upper leg skin	UBERON:0004262	87.71	gold quality
minor salivary gland	UBERON:0001830	87.46	gold quality
vagina	UBERON:0000996	87.37	gold quality
body of stomach	UBERON:0001161	87.07	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	323.34
E-ANND-3	yes	9.19

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting SLC61A1, 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-5696	99.98	72.36	4487
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-190B-3P	99.33	68.29	1382
HSA-MIR-6871-5P	98.90	66.67	671
HSA-MIR-5000-3P	98.79	65.63	1251
HSA-MIR-4704-3P	98.28	69.33	1300
HSA-MIR-4436A	98.05	64.83	1140
HSA-MIR-6750-5P	93.94	66.68	797
HSA-MIR-6822-5P	93.94	66.34	812

Literature-anchored findings (GeneRIF, showing 1)

• Major Facilitator Superfamily Domain Containing 5 Inhibition Reduces Lipoprotein(a) Uptake and Calcification in Valvular Heart Disease. (PMID:37937463)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	mfsd5	ENSDARG00000015997
mus_musculus	Mfsd5	ENSMUSG00000045665
rattus_norvegicus	Mfsd5	ENSRNOG00000012832
caenorhabditis_elegans		WBGENE00010182
caenorhabditis_elegans		WBGENE00010282
caenorhabditis_elegans		WBGENE00012222
caenorhabditis_elegans		WBGENE00016093
caenorhabditis_elegans		WBGENE00016094
caenorhabditis_elegans		WBGENE00016095
caenorhabditis_elegans		WBGENE00017861
caenorhabditis_elegans		WBGENE00021814

Paralogs (6): MFSD10 (ENSG00000109736), MFSD1 (ENSG00000118855), MFSD9 (ENSG00000135953), MFSD14B (ENSG00000148110), MFSD14A (ENSG00000156875), MFSD8 (ENSG00000164073)

Protein

Protein identifiers

Solute carrier family 61 member 1 — Q6N075 (reviewed: Q6N075)

Alternative names: Major facilitator superfamily domain-containing protein 5, Molybdate transporter 2 homolog, Molybdate-anion transporter

All UniProt accessions (2): Q6N075, F8VV69

UniProt curated annotations — full annotation on UniProt →

Function. Mediates high-affinity intracellular uptake of the rare oligo-element molybdenum.

Subcellular location. Cell membrane.

Tissue specificity. Expressed ubiquitously but at relatively higher levels in the olfactory bulb and the skeletal muscle.

Similarity. Belongs to the SLC61A transporter family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6N075-1	1	yes
Q6N075-2	2

RefSeq proteins (2): NP_001164261, NP_116278* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008509	MOT2/MFSD5	Family
IPR036259	MFS_trans_sf	Homologous_superfamily

Pfam: PF05631

UniProt features (17 total): transmembrane region 12, sequence conflict 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6N075-F1	88.85	0.67

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 104 (showing top): GOBP_RESPONSE_TO_FOOD, GOBP_INORGANIC_ANION_TRANSPORT, GGGTGGRR_PAX4_03, GOBP_RESPONSE_TO_STARVATION, CGTSACG_PAX3_B, USF2_Q6, SCGGAAGY_ELK1_02, MYB_Q6, TCANNTGAY_SREBP1_01, GAZDA_DIAMOND_BLACKFAN_ANEMIA_MYELOID_UP, GOMF_TRANSPORTER_ACTIVITY, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_B, VANOEVELEN_MYOGENESIS_SIN3A_TARGETS, PDGF_ERK_DN.V1_DN, CIITA_TARGET_GENES

GO Biological Process (4): monoatomic ion transport (GO:0006811), molybdate ion transport (GO:0015689), response to food (GO:0032094), response to starvation (GO:0042594)

GO Molecular Function (2): molybdate ion transmembrane transporter activity (GO:0015098), protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to nutrient levels	2
transport	1
inorganic anion transport	1
response to chemical	1
response to stress	1
molybdate ion transport	1
transmembrane transporter activity	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

630 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC61A1	MFSD11	O43934	771
SLC61A1	SLC33A2	Q96ES6	716
SLC61A1	SPRYD3	Q8NCJ5	710
SLC61A1	SLC67A2	Q8NBP5	692
SLC61A1	SLC75A1	Q14728	632
SLC61A1	SVOPL	Q8N434	627
SLC61A1	SLC71A1	Q96MC6	614
SLC61A1	MYG1	Q9HB07	613
SLC61A1	SVOP	Q8N4V2	604
SLC61A1	SLC68A1	Q14CX5	588
SLC61A1	SLC71A2	Q5SR56	575
SLC61A1	UNC93A	Q86WB7	568
SLC61A1	CSTPP1	Q9H6J7	562
SLC61A1	MFSD6L	Q8IWD5	560
SLC61A1	PFDN5	Q99471	560

IntAct

211 interactions, top by confidence:

A	B	Type	Score
CREB3L1	MFSD5	psi-mi:“MI:0915”(physical association)	0.720
MFSD5	CREB3L1	psi-mi:“MI:0915”(physical association)	0.720
CYB5B	MFSD5	psi-mi:“MI:0915”(physical association)	0.670
MFSD5	MMGT1	psi-mi:“MI:0915”(physical association)	0.670
SEC22B	MFSD5	psi-mi:“MI:0915”(physical association)	0.670
PGRMC2	MFSD5	psi-mi:“MI:0915”(physical association)	0.670
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
MFSD5	GAPDHS	psi-mi:“MI:0915”(physical association)	0.590
MFSD5	KASH5	psi-mi:“MI:0915”(physical association)	0.560
KASH5	MFSD5	psi-mi:“MI:0915”(physical association)	0.560
MFSD5	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
IL27RA	MFSD5	psi-mi:“MI:0915”(physical association)	0.560
MFSD5	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
MFSD5	IL27RA	psi-mi:“MI:0915”(physical association)	0.560
MFSD5	TMEM237	psi-mi:“MI:0915”(physical association)	0.560
MFSD5	PKMYT1	psi-mi:“MI:0915”(physical association)	0.560
MFSD5	TMEM203	psi-mi:“MI:0915”(physical association)	0.560
C2CD2L	MFSD5	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	MFSD5	psi-mi:“MI:0915”(physical association)	0.560
CD40	MFSD5	psi-mi:“MI:0915”(physical association)	0.560
SLC18A2	MFSD5	psi-mi:“MI:0915”(physical association)	0.560
MFSD5	BTNL9	psi-mi:“MI:0915”(physical association)	0.560
AQP6	MFSD5	psi-mi:“MI:0915”(physical association)	0.560
SHISAL1	MFSD5	psi-mi:“MI:0915”(physical association)	0.560
GJA5	MFSD5	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (449): CREB3L1 (Two-hybrid), CCDC155 (Two-hybrid), MFSD5 (Affinity Capture-MS), MFSD5 (Two-hybrid), CREB3L1 (Two-hybrid), MFSD5 (Two-hybrid), MFSD5 (Affinity Capture-MS), MFSD5 (Affinity Capture-MS), MFSD5 (Affinity Capture-MS), MFSD5 (Affinity Capture-MS), MFSD5 (Affinity Capture-MS), MFSD5 (Affinity Capture-MS), MFSD5 (Affinity Capture-MS), MFSD5 (Affinity Capture-MS), MFSD5 (Affinity Capture-MS)

ESM2 similar proteins: A2AVZ9, A4IHK6, A4QN56, A5D7V7, B0S5Y3, B2RXV4, B5X4H8, O00400, O60779, O75387, P41438, P58355, P60815, Q04991, Q0VC03, Q0VCM6, Q1JPD8, Q28FF3, Q4LE88, Q4R877, Q569T7, Q5BK75, Q5E9R1, Q5R542, Q5RBM3, Q5RF58, Q62866, Q6AYY8, Q6GMG6, Q6N075, Q6PB15, Q71B07, Q8BSM7, Q8CGA3, Q8N370, Q8NBI5, Q91X85, Q921Y4, Q944P0, Q99J27

Diamond homologs: Q08B29, Q0VC03, Q1KKV8, Q28E13, Q5R542, Q6DG19, Q6N075, Q921Y4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
G protein-coupled receptor signaling pathway	12	5.5×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

178 predictions. Top by Δscore:

Variant	Effect	Δscore
12:53252265:GCAG:G	donor_gain	1.0000
12:53252266:CAGG:C	donor_loss	1.0000
12:53252268:GGTGA:G	donor_loss	1.0000
12:53252269:GTGA:G	donor_loss	1.0000
12:53252270:T:A	donor_loss	1.0000
12:53252232:G:GT	donor_gain	0.9700
12:53252269:G:GG	donor_gain	0.9700
12:53252291:TGC:T	donor_gain	0.9700
12:53252812:TCCCA:T	acceptor_loss	0.9600
12:53252813:CCCAG:C	acceptor_loss	0.9600
12:53252814:CCA:C	acceptor_loss	0.9600
12:53252815:CAG:C	acceptor_loss	0.9600
12:53252817:G:A	acceptor_loss	0.9600
12:53252817:GGTC:G	acceptor_gain	0.9600
12:53252292:GCA:G	donor_gain	0.9500
12:53252816:A:AG	acceptor_gain	0.9000
12:53252817:G:GG	acceptor_gain	0.9000
12:53252143:G:GT	donor_gain	0.8900
12:53252865:A:AG	acceptor_gain	0.8800
12:53252866:G:GG	acceptor_gain	0.8800
12:53252708:G:GT	donor_gain	0.8700
12:53252708:G:T	donor_gain	0.8500
12:53252149:GGCT:G	donor_gain	0.8400
12:53252150:GCTG:G	donor_gain	0.8400
12:53252494:G:GT	donor_gain	0.8200
12:53252268:G:GC	donor_gain	0.8100
12:53252269:G:GA	donor_gain	0.8100
12:53252270:T:TC	donor_gain	0.7900
12:53252267:AGGT:A	donor_gain	0.7800
12:53252266:CAGGT:C	donor_gain	0.7700

AlphaMissense

2861 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:53253616:A:C	S261R	0.997
12:53253618:T:A	S261R	0.997
12:53253618:T:G	S261R	0.997
12:53253643:T:A	W270R	0.994
12:53253643:T:C	W270R	0.994
12:53253637:T:C	F268L	0.993
12:53253639:C:A	F268L	0.993
12:53253639:C:G	F268L	0.993
12:53253320:T:C	F162S	0.990
12:53253688:T:C	F285L	0.990
12:53253690:C:A	F285L	0.990
12:53253690:C:G	F285L	0.990
12:53253821:T:G	L329W	0.990
12:53253592:G:C	G253R	0.989
12:53253904:T:G	Y357D	0.989
12:53253445:T:C	F204L	0.988
12:53253447:T:A	F204L	0.988
12:53253447:T:G	F204L	0.988
12:53253593:G:A	G253D	0.988
12:53253718:G:C	G295R	0.988
12:53253719:G:A	G295D	0.988
12:53253694:A:C	S287R	0.987
12:53253696:C:A	S287R	0.987
12:53253696:C:G	S287R	0.987
12:53253679:G:C	G282R	0.986
12:53253391:G:C	G186R	0.985
12:53253392:G:A	G186D	0.985
12:53253645:G:C	W270C	0.985
12:53253645:G:T	W270C	0.985
12:53253656:T:C	L274P	0.985

dbSNP variants (sampled 300 via entrez): RS1001732463 (12:53254490 T>TA,TG), RS1002069568 (12:53252701 A>C), RS1002744927 (12:53251415 A>C), RS1003100687 (12:53251828 C>G), RS1003697912 (12:53250440 A>T), RS1003735795 (12:53251310 GGAGTGGCA>G), RS1004156683 (12:53250196 G>A), RS1004191480 (12:53251845 T>A,C), RS1004318653 (12:53249729 C>A), RS1005893999 (12:53251394 T>C), RS1005947349 (12:53251053 T>A), RS1006184983 (12:53249196 T>G), RS1007563852 (12:53252728 G>C,T), RS1008627310 (12:53249454 G>A,T), RS1008786695 (12:53249640 A>G,T)

Disease associations

OMIM: gene MIM:620345 | 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 — SLC61 Molybdate transporter family

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	3
Cisplatin	increases expression	2
methylmercuric chloride	decreases expression	1
manganese chloride	decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
abrine	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	increases expression	1
Carbamazepine	affects expression	1
Estradiol	affects expression	1
Hydralazine	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Manganese	decreases expression, increases abundance	1
Silver	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Vincristine	decreases expression	1
Copper Sulfate	decreases expression	1
Vitamin K 3	affects expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4GQ	HCT116-MFSD5-KO-c4	Cancer cell line	Male
CVCL_D4GR	HCT116-MFSD5-KO-c9	Cancer cell line	Male

Clinical trials (associated diseases)

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