ERICH1

Summary

ERICH1 (glutamate rich 1, HGNC:27234) is a protein-coding gene on chromosome 8p23.3, encoding Glutamate-rich protein 1 (Q86X53).

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 144 total — 1 pathogenic
• MANE Select transcript: NM_207332

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27234
Approved symbol	ERICH1
Name	glutamate rich 1
Location	8p23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000104714
Ensembl biotype	protein_coding
Entrez	157697

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 11 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000262109, ENST00000518277, ENST00000518313, ENST00000518895, ENST00000519909, ENST00000522706, ENST00000522893, ENST00000523053, ENST00000523415, ENST00000523709, ENST00000524138, ENST00000870370, ENST00000870371, ENST00000870372, ENST00000870373, ENST00000870374, ENST00000925246, ENST00000925247, ENST00000925248

RefSeq mRNA: 2 — MANE Select: NM_207332 NM_001303100, NM_207332

CCDS: CCDS5955

Canonical transcript exons

ENST00000262109 — 6 exons

Exon	Start	End
ENSE00001008834	673289	674047
ENSE00001226498	731140	731224
ENSE00001337986	668598	668792
ENSE00001337988	664200	664676
ENSE00003525922	715861	716007
ENSE00003594480	692478	692612

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 97.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.8644 / max 276.7116, expressed in 1757 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91558	23.2980	1755
91555	1.0453	258
91554	0.3462	149
91553	0.1170	49
91552	0.0373	18
91551	0.0207	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	97.47	gold quality
leukocyte	CL:0000738	97.03	gold quality
calcaneal tendon	UBERON:0003701	96.29	gold quality
sural nerve	UBERON:0015488	96.05	gold quality
granulocyte	CL:0000094	95.33	gold quality
right uterine tube	UBERON:0001302	95.25	gold quality
vermiform appendix	UBERON:0001154	94.74	gold quality
metanephros cortex	UBERON:0010533	94.33	gold quality
lymph node	UBERON:0000029	94.18	gold quality
spleen	UBERON:0002106	93.73	gold quality
colonic epithelium	UBERON:0000397	93.40	gold quality
blood	UBERON:0000178	93.22	gold quality
caecum	UBERON:0001153	93.06	gold quality
sperm	CL:0000019	93.03	gold quality
right lung	UBERON:0002167	93.01	gold quality
tibial nerve	UBERON:0001323	92.87	gold quality
right lobe of thyroid gland	UBERON:0001119	92.72	gold quality
left lobe of thyroid gland	UBERON:0001120	92.64	gold quality
right ovary	UBERON:0002118	92.59	gold quality
upper lobe of left lung	UBERON:0008952	92.53	gold quality
omental fat pad	UBERON:0010414	92.42	gold quality
thyroid gland	UBERON:0002046	92.40	gold quality
peritoneum	UBERON:0002358	92.40	gold quality
tendon	UBERON:0000043	92.11	gold quality
adipose tissue of abdominal region	UBERON:0007808	92.00	gold quality
upper lobe of lung	UBERON:0008948	91.93	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.91	gold quality
left ovary	UBERON:0002119	91.87	gold quality
gall bladder	UBERON:0002110	91.68	gold quality
right lobe of liver	UBERON:0001114	91.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting ERICH1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-7844-5P	99.55	68.56	1428
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-2116-5P	99.32	69.34	1273
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-183-5P	99.31	72.27	1164
HSA-MIR-520E-5P	99.27	68.90	1513
HSA-MIR-5583-3P	99.06	65.68	1018
HSA-MIR-1295B-5P	99.03	67.50	810
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-583	98.71	67.44	1791
HSA-MIR-26B-3P	98.71	67.49	1102
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-7852-3P	98.37	67.98	823
HSA-MIR-556-5P	97.75	66.17	473

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	erich1	ENSDARG00000078130
mus_musculus	Erich1	ENSMUSG00000051978
rattus_norvegicus	Erich1	ENSRNOG00000042114

Protein

Protein identifiers

Glutamate-rich protein 1 — Q86X53 (reviewed: Q86X53)

All UniProt accessions (4): E5RHA3, Q86X53, H0YB25, H0YBT6

RefSeq proteins (2): NP_001290029, NP_997215* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026719	ERICH1	Family

UniProt features (17 total): compositionally biased region 8, modified residue 4, sequence variant 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86X53-F1	65.82	0.24

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 (4): 12, 238, 254, 277

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 89 (showing top): MENSE_HYPOXIA_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GRYDER_PAX3FOXO1_TOP_ENHANCERS, LEE_RECENT_THYMIC_EMIGRANT, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_UP, CEBPZ_TARGET_GENES, KAT5_TARGET_GENES, NFKBIA_TARGET_GENES, PAX7_TARGET_GENES, PRDM5_TARGET_GENES, RBM34_TARGET_GENES, ZNF26_TARGET_GENES, ZNF322_TARGET_GENES, ZNF423_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

310 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERICH1	PAXIP1	Q6ZW49	605
ERICH1	ZNF596	Q8TC21	594
ERICH1	FBXO25	Q8TCJ0	570
ERICH1	TDRP	Q86YL5	547
ERICH1	ERICH6	Q7L0X2	506
ERICH1	TMEM131	Q92545	488
ERICH1	SIRAL2	Q9NWS6	476
ERICH1	TTC9B	Q8N6N2	464
ERICH1	MIB2	Q96AX9	462
ERICH1	DLGAP2	Q9P1A6	453
ERICH1	RSBN1L	Q6PCB5	448
ERICH1	OR4F21	O95013	420
ERICH1	KBTBD11	O94819	419
ERICH1	SNW1	Q13573	418
ERICH1	ZNF714	Q96N38	417

IntAct

9 interactions, top by confidence:

A	B	Type	Score
SNRPD2	GEMIN2	psi-mi:“MI:0914”(association)	0.710
ERICH1	MTG1	psi-mi:“MI:0915”(physical association)	0.560
ERICH1	XRCC4	psi-mi:“MI:0915”(physical association)	0.400
CSNK2B	OSBPL8	psi-mi:“MI:0914”(association)	0.350
SNRPF	SUPT5H	psi-mi:“MI:0914”(association)	0.350
PSENEN	KIF1C	psi-mi:“MI:0914”(association)	0.350
MTG1	ERICH1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (20): ERICH1 (Proximity Label-MS), ERICH1 (Positive Genetic), MTG1 (Two-hybrid), ERICH1 (Proximity Label-MS), ERICH1 (Proximity Label-MS), ERICH1 (Proximity Label-MS), ERICH1 (Proximity Label-MS), XRCC4 (Affinity Capture-MS), ERICH1 (Affinity Capture-MS), ERICH1 (Affinity Capture-MS), ERICH1 (Affinity Capture-MS), ERICH1 (Affinity Capture-MS), ERICH1 (Proximity Label-MS), ERICH1 (Affinity Capture-MS), ERICH1 (Proximity Label-MS)

ESM2 similar proteins: A0JP43, A1YEW9, A2D4U8, A2D5N1, A2D671, A2T6K9, A8T6P4, B8AE37, F6QRE9, G3V9A7, O60238, P48785, P79149, Q0IIJ3, Q0P6D6, Q15170, Q15361, Q15390, Q2KIJ9, Q3T013, Q3ULM0, Q3ZBJ9, Q4V7L5, Q5H9J7, Q5NVG8, Q5PPP3, Q5PR69, Q5RFN3, Q5W0A0, Q66HD8, Q67XL4, Q6K678, Q86X53, Q8BP27, Q8BPM6, Q8C627, Q8N4S0, Q8R5H6, Q91W45, Q921P9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	116
Likely benign	13
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
980866	GRCh37/hg19 8p23.3(chr8:158048-1411510)x1	Pathogenic

SpliceAI

2226 predictions. Top by Δscore:

Variant	Effect	Δscore
8:692474:TTACC:T	donor_loss	1.0000
8:692475:TA:T	donor_loss	1.0000
8:692476:A:C	donor_loss	1.0000
8:692477:C:CT	donor_loss	1.0000
8:692477:CCTT:C	donor_gain	1.0000
8:692613:C:CC	acceptor_gain	1.0000
8:692619:C:CT	acceptor_gain	1.0000
8:716003:AAACA:A	acceptor_gain	1.0000
8:716004:AACA:A	acceptor_gain	1.0000
8:716005:ACA:A	acceptor_gain	1.0000
8:716006:CA:C	acceptor_gain	1.0000
8:716006:CAC:C	acceptor_gain	1.0000
8:716008:C:A	acceptor_loss	1.0000
8:716008:C:CC	acceptor_gain	1.0000
8:716010:G:C	acceptor_gain	1.0000
8:716018:A:T	acceptor_gain	1.0000
8:716020:CCGAT:C	acceptor_gain	1.0000
8:716021:C:CT	acceptor_gain	1.0000
8:716022:G:T	acceptor_gain	1.0000
8:716024:T:C	acceptor_gain	1.0000
8:716024:T:TC	acceptor_gain	1.0000
8:731146:T:TA	donor_gain	1.0000
8:668592:ACTT:A	donor_loss	0.9900
8:668593:CTTA:C	donor_loss	0.9900
8:668594:TTAC:T	donor_loss	0.9900
8:668595:TACC:T	donor_loss	0.9900
8:668596:A:AC	donor_gain	0.9900
8:668596:A:AT	donor_loss	0.9900
8:668597:C:CC	donor_gain	0.9900
8:668783:C:G	acceptor_gain	0.9900

AlphaMissense

2958 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:716003:A:C	F9L	0.995
8:716003:A:T	F9L	0.995
8:716005:A:G	F9L	0.995
8:673321:A:G	L344S	0.993
8:673788:G:C	F188L	0.992
8:673788:G:T	F188L	0.992
8:673790:A:G	F188L	0.992
8:664641:A:G	W432R	0.990
8:664641:A:T	W432R	0.990
8:673863:C:A	R163S	0.990
8:673863:C:G	R163S	0.990
8:668645:A:G	L404S	0.988
8:715976:A:C	F18L	0.988
8:715976:A:T	F18L	0.988
8:715978:A:G	F18L	0.988
8:668669:A:G	L396P	0.986
8:673323:A:C	F343L	0.984
8:673323:A:T	F343L	0.984
8:673325:A:G	F343L	0.984
8:673324:A:G	F343S	0.983
8:716004:A:C	F9C	0.981
8:716004:A:G	F9S	0.979
8:673878:G:C	S158R	0.978
8:673878:G:T	S158R	0.978
8:673880:T:G	S158R	0.978
8:673789:A:G	F188S	0.976
8:673854:T:A	K166N	0.975
8:673854:T:G	K166N	0.975
8:715989:A:G	L14P	0.975
8:668741:A:G	L372P	0.973

dbSNP variants (sampled 300 via entrez): RS1000004114 (8:616427 A>C), RS1000015464 (8:702290 G>A), RS1000035119 (8:616543 C>T), RS1000037486 (8:662154 C>A,T), RS1000071110 (8:614786 G>A), RS1000075573 (8:638658 T>G), RS1000077421 (8:694100 T>C), RS1000094993 (8:669938 G>A), RS1000212654 (8:628898 C>A,G,T), RS1000214752 (8:677579 C>A,T), RS1000214858 (8:686581 G>C), RS1000259058 (8:625234 T>C), RS1000281829 (8:654766 C>A,T), RS1000310245 (8:713501 G>A), RS1000359370 (8:625389 G>A,C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST008553_3	Statin-induced myopathy (severe)	2.000000e-06
GCST008992_3	Joint damage in rheumatoid arthritis	1.000000e-06
GCST009391_1306	Metabolite levels	7.000000e-06
GCST009391_1880	Metabolite levels	2.000000e-06
GCST009391_2143	Metabolite levels	3.000000e-07
GCST009391_59	Metabolite levels	3.000000e-06
GCST011494_39	Daytime nap	3.000000e-13

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005413	joint damage measurement
EFO:0010517	oxalate measurement
EFO:0010414	triacylglycerol 52:2 measurement
EFO:0010551	xanthurenate measurement
EFO:0010352	diacylglycerol 34:1 measurement
EFO:0007828	daytime rest measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	3
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
methylmercuric chloride	increases expression	1
beta-lapachone	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases methylation, increases abundance	1
sodium arsenite	increases expression	1
manganese chloride	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	affects methylation, increases abundance	1
Carbamazepine	affects expression	1
Diethylhexyl Phthalate	decreases methylation, increases abundance	1
Dimethyl Sulfoxide	increases expression	1
Estradiol	decreases expression	1

Clinical trials (associated diseases)

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