RUSF1

Summary

RUSF1 (RUS family member 1, HGNC:25848) is a protein-coding gene on chromosome 16p11.2, encoding RUS family member 1 (Q96GQ5).

This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis.

Source: NCBI Gene 64755 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 95 total — 2 likely-pathogenic
• MANE Select transcript: NM_022744

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25848
Approved symbol	RUSF1
Name	RUS family member 1
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13868
Ensembl gene	ENSG00000140688
Ensembl biotype	protein_coding
Entrez	64755

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000327237, ENST00000541442, ENST00000564807, ENST00000565128, ENST00000566148, ENST00000567578, ENST00000567673, ENST00000567994, ENST00000568491, ENST00000570164, ENST00000865279, ENST00000865280, ENST00000865281, ENST00000962032

RefSeq mRNA: 1 — MANE Select: NM_022744 NM_022744

CCDS: CCDS10715

Canonical transcript exons

ENST00000327237 — 13 exons

Exon	Start	End
ENSE00001404406	31493603	31493787
ENSE00001426481	31493467	31493524
ENSE00001427635	31492978	31493048
ENSE00001954822	31489475	31490932
ENSE00002576349	31508074	31508391
ENSE00003461811	31496849	31496950
ENSE00003508569	31507764	31507878
ENSE00003519015	31499302	31499407
ENSE00003605111	31492009	31492086
ENSE00003613850	31492197	31492340
ENSE00003637439	31500686	31500731
ENSE00003644639	31499493	31499525
ENSE00003672635	31493866	31493936

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 97.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.6022 / max 145.9400, expressed in 1804 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157169	21.6022	1804

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	97.23	gold quality
left ovary	UBERON:0002119	97.21	gold quality
right ovary	UBERON:0002118	97.12	gold quality
right lobe of thyroid gland	UBERON:0001119	96.99	gold quality
right uterine tube	UBERON:0001302	96.88	gold quality
endocervix	UBERON:0000458	96.76	gold quality
left lobe of thyroid gland	UBERON:0001120	96.75	gold quality
body of pancreas	UBERON:0001150	96.42	gold quality
body of uterus	UBERON:0009853	96.34	gold quality
pituitary gland	UBERON:0000007	96.30	gold quality
right lobe of liver	UBERON:0001114	96.20	gold quality
left uterine tube	UBERON:0001303	96.19	gold quality
thyroid gland	UBERON:0002046	95.97	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.92	gold quality
body of stomach	UBERON:0001161	95.75	gold quality
minor salivary gland	UBERON:0001830	95.54	gold quality
cerebellar hemisphere	UBERON:0002245	95.53	gold quality
cerebellar cortex	UBERON:0002129	95.37	gold quality
stromal cell of endometrium	CL:0002255	95.23	gold quality
tibial nerve	UBERON:0001323	95.20	gold quality
ectocervix	UBERON:0012249	95.19	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.01	gold quality
right frontal lobe	UBERON:0002810	94.61	gold quality
transverse colon	UBERON:0001157	94.60	gold quality
stomach	UBERON:0000945	94.56	gold quality
ascending aorta	UBERON:0001496	94.43	gold quality
metanephros cortex	UBERON:0010533	94.43	gold quality
mucosa of stomach	UBERON:0001199	94.39	gold quality
thoracic aorta	UBERON:0001515	94.36	gold quality
right coronary artery	UBERON:0001625	94.36	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.53
E-MTAB-4850	no	342.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

88 targeting RUSF1, 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-4455	100.00	65.48	1587
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-92A-2-5P	99.75	67.01	2164

Literature-anchored findings (GeneRIF, showing 1)

• Functional characterization of related Arabidopsis proteins that contain a DUF647 domain and are involved in UV-B sensing in roots. C16orf58 is the closest human homolog. (PMID:19515790)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rusf1	ENSDARG00000059919
mus_musculus	Rusf1	ENSMUSG00000030780
rattus_norvegicus	Rusf1	ENSRNOG00000020144
drosophila_melanogaster	CG10338	FBGN0032700

Protein

Protein identifiers

RUS family member 1 — Q96GQ5 (reviewed: Q96GQ5)

All UniProt accessions (6): Q96GQ5, H3BR29, H3BS97, H3BSM7, H3BTA0, I3L2V0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the RUS1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96GQ5-1	1	yes
Q96GQ5-2	2

RefSeq proteins (1): NP_073581* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006968	RUS_fam	Family
IPR054549	UVB_sens_RUS_dom	Domain
IPR055412	UVB_sens_C	Domain

Pfam: PF04884, PF24160

UniProt features (11 total): sequence conflict 2, modified residue 2, splice variant 2, sequence variant 2, initiator methionine 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96GQ5-F1	85.65	0.65

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): 2, 49

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 62 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GGGCATT_MIR365, chr16p11, DOUGLAS_BMI1_TARGETS_DN, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, MODULE_421, MODULE_534, FEV_TARGET_GENES, FOXD2_TARGET_GENES, HDAC4_TARGET_GENES, HMG20B_TARGET_GENES, PHB2_TARGET_GENES, ZNF407_TARGET_GENES, ZNF618_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

295 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RUSF1	CEBPZOS	A8MTT3	608
RUSF1	MTRES1	Q9P0P8	447
RUSF1	C6orf62	Q9GZU0	419
RUSF1	SERF2	P84101	370
RUSF1	ZNF843	Q8N446	370
RUSF1	USF1	P22415	368
RUSF1	TBC1D10B	Q4KMP7	355
RUSF1	EXOG	Q9Y2C4	348
RUSF1	ARMC5	Q96C12	348
RUSF1	SLC5A2	P31639	317
RUSF1	USF2	Q15853	311
RUSF1	FAM161B	Q96MY7	306
RUSF1	TMT1A	Q9H8H3	305
RUSF1	C16orf46	Q6P387	297
RUSF1	SMOC2	Q9H3U7	263

IntAct

247 interactions, top by confidence:

A	B	Type	Score
IFNGR1	RUSF1	psi-mi:“MI:0915”(physical association)	0.670
RUSF1	GJA8	psi-mi:“MI:0915”(physical association)	0.560
RUSF1	TEX29	psi-mi:“MI:0915”(physical association)	0.560
RUSF1	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
RUSF1	LHFPL5	psi-mi:“MI:0915”(physical association)	0.560
RUSF1		psi-mi:“MI:0915”(physical association)	0.560
CREB3L3	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
RUSF1	RNF5	psi-mi:“MI:0915”(physical association)	0.560
RETREG3	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
RUSF1	SPAG4	psi-mi:“MI:0915”(physical association)	0.560
CREB3L1	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
BIK	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
RUSF1	PDCD1LG2	psi-mi:“MI:0915”(physical association)	0.560
PGRMC2	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
EBP	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
RUSF1	TMEM248	psi-mi:“MI:0915”(physical association)	0.560
GJA8	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
RUSF1	HSD3B7	psi-mi:“MI:0915”(physical association)	0.560
RUSF1	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
FAM209A	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
TEX29	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
DGAT2L6	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
SLC10A1	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
RUSF1	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
EHHADH	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
IL10RA	RUSF1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (223): C16orf58 (Affinity Capture-MS), C16orf58 (Affinity Capture-MS), C16orf58 (Affinity Capture-MS), C16orf58 (Proximity Label-MS), C16orf58 (Two-hybrid), BMPR2 (Affinity Capture-MS), UGCG (Affinity Capture-MS), EPHB3 (Affinity Capture-MS), CANT1 (Affinity Capture-MS), LAPTM4A (Affinity Capture-MS), UBB (Affinity Capture-MS), DFNA5 (Affinity Capture-MS), RELT (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), BMPR1A (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K1Q8, B2RX12, O15438, O35379, O70595, O88269, O88563, O95255, P0C0K7, P21958, P26770, P33527, P36370, P51839, Q03518, Q09427, Q09428, Q09429, Q28433, Q3ZBE0, Q499P8, Q5R8F6, Q5T3U5, Q62137, Q63272, Q6NVG1, Q6UR05, Q7TNJ2, Q864R9, Q8CG09, Q8HXQ5, Q8K0H7, Q8NFM4, Q8R420, Q8R4P9, Q8VI47, Q91V24, Q91W34, Q91WF3, Q92887

Diamond homologs: Q499P8, Q5R8F6, Q7X6P3, Q84JB8, Q86K80, Q91W34, Q96GQ5, B6IDH3, Q67YT8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	45
Likely benign	6
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3256905	NM_003041.4(SLC5A2):c.1830C>A (p.Cys610Ter)	Likely pathogenic
4072224	NM_003041.4(SLC5A2):c.1792+1G>C	Likely pathogenic

SpliceAI

1835 predictions. Top by Δscore:

Variant	Effect	Δscore
16:31492336:CTGGT:C	acceptor_gain	1.0000
16:31492338:GGT:G	acceptor_gain	1.0000
16:31492339:GT:G	acceptor_gain	1.0000
16:31492341:C:CC	acceptor_gain	1.0000
16:31492352:C:T	acceptor_gain	1.0000
16:31492976:A:AC	donor_gain	1.0000
16:31492977:C:CC	donor_gain	1.0000
16:31493047:CA:C	acceptor_gain	1.0000
16:31493049:C:CC	acceptor_gain	1.0000
16:31493756:C:CT	acceptor_gain	1.0000
16:31493757:A:T	acceptor_gain	1.0000
16:31493758:G:C	acceptor_gain	1.0000
16:31493758:G:GC	acceptor_gain	1.0000
16:31493787:GC:G	acceptor_loss	1.0000
16:31493788:C:CC	acceptor_gain	1.0000
16:31496845:TCAC:T	donor_loss	1.0000
16:31496846:CAC:C	donor_loss	1.0000
16:31496847:A:AC	donor_gain	1.0000
16:31496847:AC:A	donor_gain	1.0000
16:31496848:C:CG	donor_loss	1.0000
16:31496848:C:CT	donor_gain	1.0000
16:31496848:CC:C	donor_gain	1.0000
16:31496848:CCTGG:C	donor_gain	1.0000
16:31496946:ATGCA:A	acceptor_gain	1.0000
16:31496947:TGCA:T	acceptor_gain	1.0000
16:31496948:GCA:G	acceptor_gain	1.0000
16:31496949:CA:C	acceptor_gain	1.0000
16:31496949:CAC:C	acceptor_gain	1.0000
16:31496950:ACTGG:A	acceptor_loss	1.0000
16:31496951:C:CC	acceptor_gain	1.0000

AlphaMissense

3016 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:31496861:C:A	K230N	0.997
16:31496861:C:G	K230N	0.997
16:31496896:C:G	A219P	0.996
16:31496934:G:T	A206D	0.996
16:31499314:G:C	S196R	0.996
16:31499314:G:T	S196R	0.996
16:31499316:T:G	S196R	0.996
16:31499493:C:G	R165T	0.996
16:31499501:C:A	K162N	0.996
16:31499501:C:G	K162N	0.996
16:31493901:G:C	S246R	0.995
16:31493901:G:T	S246R	0.995
16:31493903:T:G	S246R	0.995
16:31496852:G:C	S233R	0.995
16:31496852:G:T	S233R	0.995
16:31496854:T:G	S233R	0.995
16:31496919:C:G	R211P	0.995
16:31499407:C:A	R165S	0.995
16:31499407:C:G	R165S	0.995
16:31508074:C:A	Q100H	0.995
16:31508074:C:G	Q100H	0.995
16:31496866:C:G	A229P	0.994
16:31496882:G:C	N223K	0.994
16:31496882:G:T	N223K	0.994
16:31507839:C:G	A114P	0.994
16:31493736:G:C	N275K	0.993
16:31493736:G:T	N275K	0.993
16:31493914:C:T	G242E	0.993
16:31496910:A:G	L214P	0.993
16:31499397:C:G	D169H	0.993

dbSNP variants (sampled 300 via entrez): RS1000109958 (16:31508125 A>G,T), RS1000151974 (16:31508557 C>A,G,T), RS1000281775 (16:31496305 C>G), RS1000321223 (16:31499881 C>T), RS1000339959 (16:31502725 T>G), RS1000598313 (16:31490618 A>C,G), RS1000617691 (16:31497525 CAG>C), RS1000885165 (16:31506136 A>G), RS1001001026 (16:31494689 A>G,T), RS1001041350 (16:31492317 G>A), RS1001213292 (16:31503359 T>A,C), RS1001270767 (16:31496757 C>T), RS1001689715 (16:31491913 T>C,G), RS1001741671 (16:31497018 G>A,C), RS1001834717 (16:31498114 T>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:233100, MIM:147250

GenCC curated gene-disease

Mondo (2): familial renal glucosuria (MONDO:0009297), solitary median maxillary central incisor syndrome (MONDO:0007819)

Orphanet (2): Familial renal glucosuria (Orphanet:69076), OBSOLETE: Solitary median maxillary central incisor syndrome (Orphanet:2286)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90002391_77	Mean corpuscular hemoglobin concentration	1.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004528	mean corpuscular hemoglobin concentration

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D006030	Glycosuria, Renal	C12.050.351.968.419.815.532; C12.050.351.968.934.363.450; C12.200.777.419.815.532; C12.200.777.934.363.450; C12.950.419.815.532; C12.950.934.363.450; C16.320.831.532; C18.452.394.937.450
C537342	Single upper central incisor (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects splicing, decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Tunicamycin	increases expression	2
bisphenol A	decreases expression	1
cobaltous chloride	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
K 7174	increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Doxorubicin	decreases expression	1
Gallic Acid	increases expression	1
Methotrexate	decreases expression	1
Phthalic Acids	increases methylation	1
Quercetin	increases expression	1
Silicon Dioxide	decreases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases expression	1
Thapsigargin	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases expression	1
Vitamin K 3	affects expression	1
Particulate Matter	increases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03965000	Not specified	UNKNOWN	Human Solute Carrier Family 5 Member 2 (SLC5A2) Deficiency and the Glucagon-Incretin Axis
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases