ERG28

Summary

ERG28 (ergosterol biosynthesis 28 homolog, HGNC:1187) is a protein-coding gene on chromosome 14q24.3, encoding Ergosterol biosynthetic protein 28 homolog (Q9UKR5).

Enables identical protein binding activity. Predicted to be involved in sterol biosynthetic process. Located in transport vesicle.

Source: NCBI Gene 11161 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total
• Druggable target: yes
• MANE Select transcript: NM_007176

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1187
Approved symbol	ERG28
Name	ergosterol biosynthesis 28 homolog
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Aliases	NET51
Ensembl gene	ENSG00000133935
Ensembl biotype	protein_coding
OMIM	604576
Entrez	11161

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000256319, ENST00000882798, ENST00000882799, ENST00000882800, ENST00000939743, ENST00000939744, ENST00000955834

RefSeq mRNA: 1 — MANE Select: NM_007176 NM_007176

CCDS: CCDS9845

Canonical transcript exons

ENST00000256319 — 5 exons

Exon	Start	End
ENSE00000808379	75649791	75651634
ENSE00000808380	75651771	75651889
ENSE00000808381	75654886	75654976
ENSE00000808382	75657370	75657533
ENSE00001409869	75660775	75660876

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 95.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 57.0886 / max 325.8770, expressed in 1817 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144143	54.9337	1814
144145	0.7748	435
144142	0.7471	417
144144	0.6330	402

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	95.48	gold quality
nipple	UBERON:0002030	95.21	gold quality
penis	UBERON:0000989	94.99	gold quality
oviduct epithelium	UBERON:0004804	94.94	gold quality
gingival epithelium	UBERON:0001949	94.92	gold quality
gingiva	UBERON:0001828	94.49	gold quality
squamous epithelium	UBERON:0006914	94.23	gold quality
left testis	UBERON:0004533	94.19	gold quality
right testis	UBERON:0004534	94.06	gold quality
esophagus squamous epithelium	UBERON:0006920	94.05	gold quality
adult organism	UBERON:0007023	94.02	gold quality
epithelium of esophagus	UBERON:0001976	93.95	gold quality
corpus epididymis	UBERON:0004359	93.95	gold quality
testis	UBERON:0000473	93.76	gold quality
cervix squamous epithelium	UBERON:0006922	93.66	gold quality
pigmented layer of retina	UBERON:0001782	93.60	gold quality
retina	UBERON:0000966	93.58	gold quality
tongue squamous epithelium	UBERON:0006919	93.55	gold quality
secondary oocyte	CL:0000655	93.19	gold quality
right lobe of liver	UBERON:0001114	93.13	gold quality
male germ cell	CL:0000015	92.94	gold quality
sperm	CL:0000019	92.35	gold quality
liver	UBERON:0002107	92.32	gold quality
lower lobe of lung	UBERON:0008949	92.29	gold quality
mammalian vulva	UBERON:0000997	92.27	gold quality
right adrenal gland cortex	UBERON:0035827	92.24	gold quality
cervix epithelium	UBERON:0004801	92.13	gold quality
esophagus mucosa	UBERON:0002469	91.75	gold quality
right adrenal gland	UBERON:0001233	91.69	gold quality
epithelium of nasopharynx	UBERON:0001951	91.65	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	78.21
E-ANND-3	yes	23.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting ERG28, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-657	99.48	66.02	848

Literature-anchored findings (GeneRIF, showing 1)

• Data indicate that integrin beta6, CD46, tissue factor, and chromosome 14 open reading frame 1 (C14ORF1), were identified as overexpressed on pancreatic cancer cell lines. (PMID:21934552)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ERG28	ENSDARG00000111290
mus_musculus	Erg28	ENSMUSG00000021252
rattus_norvegicus	Erg28	ENSRNOG00000008781

Protein

Protein identifiers

Ergosterol biosynthetic protein 28 homolog — Q9UKR5 (reviewed: Q9UKR5)

All UniProt accessions (2): Q9UKR5, Q6FII3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Ubiquitous; strongly expressed in testis and some cancer cell lines.

Similarity. Belongs to the ERG28 family.

RefSeq proteins (1): NP_009107* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005352	Erg28	Family

Pfam: PF03694

UniProt features (5 total): transmembrane region 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKR5-F1	92.86	0.84

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 178 (showing top): MULLIGHAN_NPM1_SIGNATURE_3_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, JI_RESPONSE_TO_FSH_UP, TGCGCANK_UNKNOWN, CMYB_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, AAAYRNCTG_UNKNOWN, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, chr14q24, GATA3_01, GATA1_01, BROWNE_HCMV_INFECTION_14HR_DN, GOBP_STEROID_BIOSYNTHETIC_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13

GO Biological Process (4): sterol biosynthetic process (GO:0016126), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694), steroid metabolic process (GO:0008202)

GO Molecular Function (3): protein-macromolecule adaptor activity (GO:0030674), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), transport vesicle (GO:0030133)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
endomembrane system	2
steroid biosynthetic process	1
sterol metabolic process	1
primary metabolic process	1
steroid metabolic process	1
lipid biosynthetic process	1
lipid metabolic process	1
molecular adaptor activity	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

712 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERG28	MSMO1	Q15800	966
ERG28	CYP51A1	Q16850	865
ERG28	SC5D	O75845	751
ERG28	NSDHL	Q15738	742
ERG28	HSD17B7	P56937	731
ERG28	KRTCAP2	Q8N6L1	664
ERG28	FDFT1	P37268	635
ERG28	SQLE	Q14534	625
ERG28	TMEM147	Q9BVK8	624
ERG28	SIGMAR1	Q99720	616
ERG28	IER3IP1	Q9Y5U9	602
ERG28	TM7SF2	O76062	582
ERG28	DHCR7	Q9UBM7	569
ERG28	IDI1	Q13907	548
ERG28	DHCR24	Q15392	543

IntAct

252 interactions, top by confidence:

A	B	Type	Score
SCN3B	ERG28	psi-mi:“MI:0915”(physical association)	0.670
ERG28	LYPD5	psi-mi:“MI:0915”(physical association)	0.560
ERG28	CLDN5	psi-mi:“MI:0915”(physical association)	0.560
ERG28	SGPL1	psi-mi:“MI:0915”(physical association)	0.560
ERG28	MRM1	psi-mi:“MI:0915”(physical association)	0.560
ERG28	MTERF3	psi-mi:“MI:0915”(physical association)	0.560
ERG28		psi-mi:“MI:0915”(physical association)	0.560
ERG28	TM4SF19	psi-mi:“MI:0915”(physical association)	0.560
ERG28	MSMO1	psi-mi:“MI:0915”(physical association)	0.560
ERG28	LHFPL5	psi-mi:“MI:0915”(physical association)	0.560
ERG28	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
ERG28	FFAR2	psi-mi:“MI:0915”(physical association)	0.560
ERG28	ELOVL4	psi-mi:“MI:0915”(physical association)	0.560
ERG28	PIGY	psi-mi:“MI:0915”(physical association)	0.560
ERG28	CYB561	psi-mi:“MI:0915”(physical association)	0.560
ERG28	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
ERG28	AQP3	psi-mi:“MI:0915”(physical association)	0.560
ERG28	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (152): C14orf1 (Affinity Capture-RNA), C14orf1 (Affinity Capture-RNA), C14orf1 (Two-hybrid), C14orf1 (Two-hybrid), C14orf1 (Two-hybrid), C14orf1 (Two-hybrid), C14orf1 (Co-fractionation), C14orf1 (Two-hybrid), C14orf1 (Two-hybrid), C14orf1 (Two-hybrid), C14orf1 (Two-hybrid), C14orf1 (Two-hybrid), C14orf1 (Two-hybrid), C14orf1 (Two-hybrid), C14orf1 (Two-hybrid)

ESM2 similar proteins: A4IFN5, A6NI61, A6QQ59, B0CM95, B2KI79, B2LYG4, B2RZC9, D0Q0Y7, O35089, P22234, P86229, Q15546, Q1RMP9, Q2TA01, Q3ZCD7, Q5BJU5, Q5QJU3, Q5R589, Q5RB59, Q5RDB5, Q5RL79, Q5U3C3, Q64232, Q6IQ69, Q6PHN7, Q6PI25, Q6ZWS4, Q719N3, Q865K8, Q86WK9, Q86YN1, Q8BWB6, Q8IY49, Q8IZV2, Q8N6L1, Q8N6M3, Q8NBT3, Q8NFT2, Q8R189, Q8TBE1

Diamond homologs: I1RNT1, O74820, O80594, P40030, Q5AD51, Q5R589, Q9ERY9, Q9UKR5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

748 predictions. Top by Δscore:

Variant	Effect	Δscore
14:75651769:A:AC	donor_gain	1.0000
14:75651770:C:CC	donor_gain	1.0000
14:75651772:TGCC:T	donor_gain	1.0000
14:75654870:T:TA	donor_gain	1.0000
14:75654875:C:A	donor_gain	1.0000
14:75654881:CATA:C	donor_gain	1.0000
14:75654884:A:AC	donor_gain	1.0000
14:75654885:C:CC	donor_gain	1.0000
14:75654885:CGT:C	donor_gain	1.0000
14:75657535:T:C	acceptor_gain	1.0000
14:75657535:T:TC	acceptor_gain	1.0000
14:75660930:T:A	donor_gain	1.0000
14:75661384:ACAGG:A	donor_loss	1.0000
14:75661385:CAGG:C	donor_loss	1.0000
14:75661386:AGGTA:A	donor_loss	1.0000
14:75661387:GGT:G	donor_loss	1.0000
14:75661388:G:T	donor_loss	1.0000
14:75661389:T:A	donor_loss	1.0000
14:75651771:TTGC:T	donor_gain	0.9900
14:75651773:G:A	donor_gain	0.9900
14:75651886:GAGC:G	acceptor_gain	0.9900
14:75651888:GC:G	acceptor_gain	0.9900
14:75651888:GCCT:G	acceptor_loss	0.9900
14:75651889:CC:C	acceptor_gain	0.9900
14:75651889:CCT:C	acceptor_loss	0.9900
14:75651890:C:A	acceptor_loss	0.9900
14:75651890:C:CC	acceptor_gain	0.9900
14:75651891:T:A	acceptor_loss	0.9900
14:75654874:T:TA	donor_gain	0.9900
14:75654880:A:AC	donor_gain	0.9900

AlphaMissense

900 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:75654949:C:T	G54E	0.999
14:75651862:G:C	F84L	0.998
14:75651862:G:T	F84L	0.998
14:75651864:A:G	F84L	0.998
14:75654944:A:G	W56R	0.998
14:75654944:A:T	W56R	0.998
14:75657472:A:G	W11R	0.998
14:75657472:A:T	W11R	0.998
14:75654950:C:A	G54W	0.997
14:75654951:A:C	F53L	0.997
14:75654951:A:T	F53L	0.997
14:75654953:A:G	F53L	0.997
14:75654958:C:G	R51P	0.997
14:75651633:A:C	S115R	0.996
14:75651633:A:T	S115R	0.996
14:75651771:T:G	S115R	0.996
14:75654911:A:G	C67R	0.996
14:75654949:C:A	G54V	0.996
14:75654950:C:G	G54R	0.996
14:75654950:C:T	G54R	0.996
14:75657425:G:C	S26R	0.996
14:75657425:G:T	S26R	0.996
14:75657427:T:G	S26R	0.996
14:75651841:G:C	F91L	0.995
14:75651841:G:T	F91L	0.995
14:75651843:A:G	F91L	0.995
14:75651773:G:T	A114E	0.994
14:75651885:A:C	Y77D	0.994
14:75654907:G:T	A68D	0.994
14:75657437:G:C	N22K	0.994

dbSNP variants (sampled 300 via entrez): RS1000044265 (14:75661249 C>T), RS1000093632 (14:75654376 G>A), RS1000147661 (14:75654240 T>A,G), RS1000444435 (14:75649504 C>A), RS1000552431 (14:75655212 A>C,G), RS1000661088 (14:75659969 G>A), RS1000941782 (14:75662313 G>A), RS1001095449 (14:75662041 T>A), RS1001123129 (14:75652922 A>C), RS1001297766 (14:75655200 G>A), RS1001328079 (14:75650665 G>T), RS1001836997 (14:75660855 G>C), RS1002289333 (14:75660703 G>A,C), RS1002297213 (14:75653794 T>C), RS1002614426 (14:75656374 C>T)

Disease associations

OMIM: gene MIM:604576 | 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: yes

ChEMBL targets (1): CHEMBL6067342 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment, increases abundance, affects expression	3
cobaltous chloride	increases expression, decreases expression, affects cotreatment	2
Benzo(a)pyrene	decreases expression	2
Valproic Acid	affects expression, decreases methylation	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
afuresertib	increases expression	1
ginger extract	affects expression, increases abundance, affects cotreatment	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
lead chloride	affects cotreatment, increases expression	1
cupric chloride	decreases expression	1
triacsin C	decreases expression	1
cadmium sulfate	increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
abrine	decreases expression	1
quinocetone	increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Atrazine	increases expression	1
Chromium	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dimethylnitrosamine	decreases expression	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651010	Binding	Binding affinity to human C14orf1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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