SLC71A1

Summary

SLC71A1 (solute carrier family 71 member 1, HGNC:23363) is a protein-coding gene on chromosome 1p21.2, encoding Solute carrier family 71 member 1 (Q96MC6). Probable membrane-bound transporter.

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within acrosome assembly; sperm mitochondrion organization; and spermatid nucleus differentiation. Predicted to be located in membrane.

Source: NCBI Gene 64645 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_033055

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23363
Approved symbol	SLC71A1
Name	solute carrier family 71 member 1
Location	1p21.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP564L0864
Ensembl gene	ENSG00000156875
Ensembl biotype	protein_coding
OMIM	620347
Entrez	64645

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 15 protein_coding, 1 retained_intron

ENST00000370152, ENST00000421661, ENST00000852167, ENST00000852168, ENST00000852169, ENST00000852170, ENST00000852171, ENST00000934721, ENST00000934722, ENST00000934723, ENST00000934724, ENST00000934725, ENST00000965303, ENST00000965304, ENST00000965305, ENST00000965306

RefSeq mRNA: 1 — MANE Select: NM_033055 NM_033055

CCDS: CCDS763

Canonical transcript exons

ENST00000370152 — 12 exons

Exon	Start	End
ENSE00001028829	100049909	100050004
ENSE00001028830	100058666	100058728
ENSE00001028831	100069614	100069685
ENSE00001028834	100077165	100077277
ENSE00001028835	100061835	100061949
ENSE00001028836	100068473	100068586
ENSE00001028837	100067977	100068195
ENSE00001028838	100080496	100080659
ENSE00001028839	100059878	100060005
ENSE00001451949	100082003	100083377
ENSE00001451951	100038095	100038316
ENSE00001748756	100078451	100078548

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 94.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.1496 / max 605.2777, expressed in 1820 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4206	37.3497	1819
4207	5.7999	1562

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
smooth muscle tissue	UBERON:0001135	94.11	gold quality
islet of Langerhans	UBERON:0000006	94.06	gold quality
adrenal tissue	UBERON:0018303	93.04	gold quality
endometrium	UBERON:0001295	92.71	gold quality
corpus callosum	UBERON:0002336	92.69	gold quality
monocyte	CL:0000576	92.32	gold quality
leukocyte	CL:0000738	92.29	gold quality
tibial artery	UBERON:0007610	92.22	gold quality
popliteal artery	UBERON:0002250	92.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.91	gold quality
placenta	UBERON:0001987	91.75	gold quality
right lung	UBERON:0002167	91.75	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.74	gold quality
calcaneal tendon	UBERON:0003701	91.62	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.29	gold quality
fallopian tube	UBERON:0003889	91.28	gold quality
gall bladder	UBERON:0002110	91.25	gold quality
lymph node	UBERON:0000029	91.23	gold quality
right coronary artery	UBERON:0001625	91.06	gold quality
left uterine tube	UBERON:0001303	90.98	gold quality
left coronary artery	UBERON:0001626	90.97	gold quality
body of uterus	UBERON:0009853	90.89	gold quality
vermiform appendix	UBERON:0001154	90.83	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.80	gold quality
lower esophagus	UBERON:0013473	90.79	gold quality
upper lobe of left lung	UBERON:0008952	90.78	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	90.72	gold quality
muscle layer of sigmoid colon	UBERON:0035805	90.67	gold quality
descending thoracic aorta	UBERON:0002345	90.63	gold quality
omental fat pad	UBERON:0010414	90.54	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7052	yes	358.30
E-ANND-3	yes	5.32
E-MTAB-6386	no	350.37

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

176 targeting SLC71A1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3924	100.00	72.09	2394
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4775	99.98	75.00	6394
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-9-3P	99.96	70.88	2068

Cross-species orthologs

17 orthologs

Organism	Symbol	Gene ID
danio_rerio	mfsd14a1	ENSDARG00000043055
mus_musculus	Mfsd14a	ENSMUSG00000089911
rattus_norvegicus	Mfsd14a	ENSRNOG00000086718
drosophila_melanogaster	CG11537	FBGN0035400
drosophila_melanogaster	CG18281	FBGN0037003
drosophila_melanogaster	CG17637	FBGN0037004
drosophila_melanogaster	CG5078	FBGN0037005
caenorhabditis_elegans		WBGENE00010182
caenorhabditis_elegans		WBGENE00010282
caenorhabditis_elegans		WBGENE00012222
caenorhabditis_elegans		WBGENE00016093
caenorhabditis_elegans		WBGENE00016094
caenorhabditis_elegans		WBGENE00016095
caenorhabditis_elegans		WBGENE00017861
caenorhabditis_elegans		WBGENE00020798
caenorhabditis_elegans		WBGENE00021814
caenorhabditis_elegans		WBGENE00021870

Paralogs (6): MFSD10 (ENSG00000109736), MFSD1 (ENSG00000118855), MFSD9 (ENSG00000135953), MFSD14B (ENSG00000148110), MFSD8 (ENSG00000164073), MFSD5 (ENSG00000182544)

Protein

Protein identifiers

Solute carrier family 71 member 1 — Q96MC6 (reviewed: Q96MC6)

Alternative names: Hippocampus abundant transcript 1 protein, Major facilitator superfamily domain-containing 14A, Putative tetracycline transporter-like protein

All UniProt accessions (1): Q96MC6

UniProt curated annotations — full annotation on UniProt →

Function. Probable membrane-bound transporter. May play a role in neuronal nutrient sensing and energy homeostasis. Required for the final stages of spermatogenesis.

Subcellular location. Membrane.

Similarity. Belongs to the SLC71A transporter family.

RefSeq proteins (1): NP_149044* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001958	Tet-R_TetA/multi-R_MdtG-like	Family
IPR005829	Sugar_transporter_CS	Conserved_site
IPR011701	MFS	Family
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily

Pfam: PF07690

UniProt features (32 total): topological domain 13, transmembrane region 12, glycosylation site 2, sequence conflict 2, chain 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MC6-F1	78.79	0.53

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 (1): 1

Glycosylation sites (2): 12, 453

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 184 (showing top): YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, GOBP_VESICLE_ORGANIZATION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_MALE_GAMETE_GENERATION, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_NUCLEUS_ORGANIZATION, ACATTCC_MIR1_MIR206, GOBP_ACROSOME_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, TGACATY_UNKNOWN, GOBP_SPERMATID_NUCLEUS_DIFFERENTIATION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP

GO Biological Process (6): acrosome assembly (GO:0001675), spermatid nucleus differentiation (GO:0007289), sperm mitochondrion organization (GO:0030382), spermatogenesis (GO:0007283), spermatid development (GO:0007286), transmembrane transport (GO:0055085)

GO Molecular Function (1): transmembrane transporter activity (GO:0022857)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
developmental process involved in reproduction	2
spermatid development	2
cellular component assembly involved in morphogenesis	1
cellular process involved in reproduction in multicellular organism	1
secretory granule organization	1
organelle assembly	1
nucleus organization	1
mitochondrion organization	1
male gamete generation	1
germ cell development	1
spermatid differentiation	1
transport	1
cellular process	1
transporter activity	1
transmembrane transport	1
cellular anatomical structure	1

Protein interactions and networks

STRING

584 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC71A1	SLC33A2	Q96ES6	623
SLC71A1	SLC61A1	Q6N075	614
SLC71A1	UNC93A	Q86WB7	545
SLC71A1	MFSD11	O43934	539
SLC71A1	DPY19L2	Q6NUT2	538
SLC71A1	SVOPL	Q8N434	517
SLC71A1	VPS54	Q9P1Q0	516
SLC71A1	SPATA16	Q9BXB7	513
SLC71A1	MFSD6	Q6ZSS7	506
SLC71A1	SPACA1	Q9HBV2	498
SLC71A1	SVOP	Q8N4V2	492
SLC71A1	MFSD6L	Q8IWD5	489
SLC71A1	MFSD12	Q6NUT3	472
SLC71A1	PALMD	Q9NP74	465
SLC71A1	SLC68A1	Q14CX5	459

IntAct

3 interactions, top by confidence:

A	B	Type	Score
MFSD14A	HTR2C	psi-mi:“MI:0915”(physical association)	0.370
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350

BioGRID (276): HIAT1 (Affinity Capture-RNA), HIAT1 (Two-hybrid), HIAT1 (Affinity Capture-MS), HIAT1 (Proximity Label-MS), HIAT1 (Cross-Linking-MS (XL-MS)), AATF (Affinity Capture-MS), ACBD3 (Affinity Capture-MS), ACBD6 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), CD97 (Affinity Capture-MS), ADO (Affinity Capture-MS), AHCYL1 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), ANO6 (Affinity Capture-MS)

ESM2 similar proteins: A1Z7R6, A2AWR3, A4IF94, A4IHK6, A5D7V7, B2RXV4, B2RYH9, O75387, P34711, P42557, P58355, P70187, Q09428, Q0P5V9, Q0VCM6, Q4LE88, Q5BK75, Q5BKX6, Q5F4B8, Q5RBM3, Q5RF58, Q5SR56, Q7Z3Q1, Q866G7, Q8BIV7, Q8BSM7, Q8C0T7, Q8CA03, Q8CGA3, Q8CIA9, Q8HYW2, Q8K0H7, Q8K4S3, Q8N370, Q8NBP5, Q8R3L5, Q96MC6, Q99624, Q99N02, Q9BY10

Diamond homologs: A4IF94, B2RYH9, P70187, Q0P5M9, Q5SR56, Q5VZR4, Q8CIA9, Q96MC6, K5B8L6, M2YI75, P02980, Q14728, Q8TFD3, Q9D2V8, A0A455ZIM6, A0QWU7, O31762, P96709

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1660 predictions. Top by Δscore:

Variant	Effect	Δscore
1:100038305:G:GT	donor_gain	1.0000
1:100038322:C:G	donor_gain	1.0000
1:100043192:TTTA:T	donor_gain	1.0000
1:100043198:GTT:G	donor_gain	1.0000
1:100043199:TTT:T	donor_gain	1.0000
1:100061827:A:AG	acceptor_gain	1.0000
1:100061828:T:G	acceptor_gain	1.0000
1:100061830:CCTA:C	acceptor_loss	1.0000
1:100061831:CTAG:C	acceptor_loss	1.0000
1:100061832:TAGG:T	acceptor_loss	1.0000
1:100061833:A:AG	acceptor_gain	1.0000
1:100061833:AG:A	acceptor_gain	1.0000
1:100061833:AGGT:A	acceptor_gain	1.0000
1:100061833:AGGTG:A	acceptor_gain	1.0000
1:100061834:G:GG	acceptor_gain	1.0000
1:100061834:GG:G	acceptor_gain	1.0000
1:100061834:GGT:G	acceptor_gain	1.0000
1:100061834:GGTG:G	acceptor_gain	1.0000
1:100061834:GGTGG:G	acceptor_gain	1.0000
1:100061930:G:GT	donor_gain	1.0000
1:100061945:GACTG:G	donor_gain	1.0000
1:100061948:TGGTA:T	donor_loss	1.0000
1:100061950:G:GG	donor_gain	1.0000
1:100067970:A:AG	acceptor_gain	1.0000
1:100067972:T:A	acceptor_gain	1.0000
1:100067972:TGCA:T	acceptor_loss	1.0000
1:100067973:GCA:G	acceptor_loss	1.0000
1:100067974:CA:C	acceptor_loss	1.0000
1:100067975:A:AC	acceptor_loss	1.0000
1:100067975:A:AG	acceptor_gain	1.0000

AlphaMissense

3167 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:100049982:T:C	L53P	1.000
1:100058720:G:A	G79R	1.000
1:100058720:G:C	G79R	1.000
1:100059911:G:C	G93R	1.000
1:100059912:G:A	G93D	1.000
1:100059921:C:A	S96Y	1.000
1:100059921:C:T	S96F	1.000
1:100059923:G:C	D97H	1.000
1:100059924:A:C	D97A	1.000
1:100059924:A:G	D97G	1.000
1:100059924:A:T	D97V	1.000
1:100059932:G:C	G100R	1.000
1:100059933:G:T	G100V	1.000
1:100061905:G:C	A148P	1.000
1:100061908:G:C	D149H	1.000
1:100061908:G:T	D149Y	1.000
1:100061909:A:C	D149A	1.000
1:100061909:A:T	D149V	1.000
1:100067998:A:C	S170R	1.000
1:100068000:T:A	S170R	1.000
1:100068000:T:G	S170R	1.000
1:100068010:A:C	S174R	1.000
1:100068012:T:A	S174R	1.000
1:100068012:T:G	S174R	1.000
1:100078548:G:C	G368R	1.000
1:100078548:G:T	G368C	1.000
1:100080507:G:A	G372R	1.000
1:100080507:G:C	G372R	1.000
1:100049966:T:C	F48L	0.999
1:100049968:T:A	F48L	0.999

dbSNP variants (sampled 300 via entrez): RS1000055421 (1:100049185 G>A,C), RS1000089439 (1:100059707 T>C), RS1000166467 (1:100076570 C>T), RS1000167955 (1:100072779 T>G), RS1000220454 (1:100069606 C>G,T), RS1000251669 (1:100060131 T>G), RS1000265705 (1:100066761 G>A), RS1000325223 (1:100059229 A>G), RS1000340684 (1:100079618 T>C), RS1000416417 (1:100052669 A>G), RS1000434122 (1:100079844 C>T), RS1000440155 (1:100052330 G>C), RS1000671502 (1:100077989 T>A), RS1000791181 (1:100039386 C>G), RS1000830705 (1:100071173 C>T)

Disease associations

OMIM: gene MIM:620347 | 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)

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
mono-(2-ethylhexyl)phthalate	increases abundance, decreases methylation	1
zinc chromate	increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	increases expression	1
Diethylhexyl Phthalate	decreases methylation, increases abundance	1
Ivermectin	decreases expression	1
Nickel	increases expression	1
Rotenone	increases expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Asbestos, Crocidolite	decreases expression	1
Lactic Acid	increases expression	1
Particulate Matter	increases abundance, decreases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4GE	HCT116-MFSD14A-KO-c1	Cancer cell line	Male
CVCL_D4GF	HCT116-MFSD14A-KO-c2	Cancer cell line	Male
CVCL_D4GG	HCT116-MFSD14A-KO-c5	Cancer cell line	Male
CVCL_SR37	HAP1 HIAT1 (-) 1	Cancer cell line	Male
CVCL_XP53	HAP1 HIAT1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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