DRICH1

Summary

DRICH1 (aspartate rich 1, HGNC:28031) is a protein-coding gene on chromosome 22q11.23, encoding Aspartate-rich protein 1 (Q6PGQ1).

At a glance

• Clinical variants (ClinVar): 51 total
• MANE Select transcript: NM_016449

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28031
Approved symbol	DRICH1
Name	aspartate rich 1
Location	22q11.23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000189269
Ensembl biotype	protein_coding
Entrez	51233

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000317749

RefSeq mRNA: 1 — MANE Select: NM_016449 NM_016449

CCDS: CCDS42985

Canonical transcript exons

ENST00000317749 — 12 exons

Exon	Start	End
ENSE00001373382	23631816	23632321
ENSE00001493516	23613289	23613330
ENSE00001493517	23613639	23613660
ENSE00001493518	23614135	23614214
ENSE00001493520	23617575	23617657
ENSE00001493521	23619364	23619393
ENSE00001493524	23622091	23622176
ENSE00001542762	23608452	23608768
ENSE00001668804	23616853	23616874
ENSE00001694755	23624883	23624904
ENSE00001730346	23625981	23626048
ENSE00001742206	23620594	23620615

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 95.95.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1122 / max 120.4397, expressed in 8 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193320	0.1122	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.95	gold quality
left testis	UBERON:0004533	94.91	gold quality
right testis	UBERON:0004534	94.65	gold quality
testis	UBERON:0000473	91.43	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.88	gold quality
adult organism	UBERON:0007023	76.31	gold quality
right ovary	UBERON:0002118	73.54	gold quality
left ovary	UBERON:0002119	73.29	gold quality
cerebellar hemisphere	UBERON:0002245	72.68	gold quality
cerebellar cortex	UBERON:0002129	72.63	gold quality
right hemisphere of cerebellum	UBERON:0014890	72.32	gold quality
metanephros cortex	UBERON:0010533	71.65	gold quality
stromal cell of endometrium	CL:0002255	70.75	gold quality
cerebellum	UBERON:0002037	70.52	gold quality
body of pancreas	UBERON:0001150	70.45	gold quality
pancreatic ductal cell	CL:0002079	70.11	silver quality
lower esophagus mucosa	UBERON:0035834	70.03	gold quality
granulocyte	CL:0000094	69.95	gold quality
mucosa of transverse colon	UBERON:0004991	69.72	gold quality
left adrenal gland cortex	UBERON:0035825	69.58	gold quality
mucosa of stomach	UBERON:0001199	69.15	gold quality
left lobe of thyroid gland	UBERON:0001120	68.59	gold quality
body of uterus	UBERON:0009853	68.00	gold quality
right lobe of thyroid gland	UBERON:0001119	67.91	gold quality
thyroid gland	UBERON:0002046	67.66	gold quality
adenohypophysis	UBERON:0002196	67.64	gold quality
left uterine tube	UBERON:0001303	67.29	gold quality
pituitary gland	UBERON:0000007	67.13	gold quality
left adrenal gland	UBERON:0001234	67.02	gold quality
ovary	UBERON:0000992	66.98	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.40

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting DRICH1, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-3668	98.52	68.76	951
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-6828-3P	96.06	67.61	1155

Cross-species orthologs

0 orthologs

Paralogs (1): C22orf42 (ENSG00000205856)

Protein

Protein identifiers

Aspartate-rich protein 1 — Q6PGQ1 (reviewed: Q6PGQ1)

All UniProt accessions (1): Q6PGQ1

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_057533* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR042865	DRICH1-like	Family

UniProt features (4 total): chain 1, region of interest 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PGQ1-F1	56.91	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 18 (showing top): CERIBELLI_GENES_INACTIVE_AND_BOUND_BY_NFY, KRAS.AMP.LUNG_UP.V1_UP, MIR670_3P, MIR6758_5P, MIR6736_3P, MIR6856_5P, GSE1432_CTRL_VS_IFNG_1H_MICROGLIA_DN, GSE1460_INTRATHYMIC_T_PROGENITOR_VS_NAIVE_CD4_TCELL_ADULT_BLOOD_DN, GAO_LARGE_INTESTINE_ADULT_CA_ENTEROENDOCRINE_CELLS, GSE22045_TREG_VS_TCONV_DN, GSE22886_TH1_VS_TH2_12H_ACT_UP, PULVER_FOREY_CELLCYCLE_PEAKING_EG1, GSE21360_PRIMARY_VS_SECONDARY_MEMORY_CD8_TCELL_DN, GSE22611_NOD2_VS_CTRL_TRANSDUCED_HEK293T_CELL_UP, GSE27291_0H_VS_6H_STIM_GAMMADELTA_TCELL_UP

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

386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DRICH1	LRRC75B	Q2VPJ9	622
DRICH1	C22orf15	Q8WYQ4	602
DRICH1	ZNF70	Q9UC06	581
DRICH1	RGL4	Q8IZJ4	540
DRICH1	HIGD2B	Q4VC39	536
DRICH1	FAM218A	Q96MZ4	519
DRICH1	PRR20A	P86496	507
DRICH1	C22orf42	Q6IC83	507
DRICH1	C16orf89	Q6UX73	491
DRICH1	FAM131C	Q96AQ9	480
DRICH1	CCDC28A-AS1	A0A096LPI5	479
DRICH1	GUCD1	Q96NT3	474
DRICH1	CFAP95	Q5VTT2	448
DRICH1	HDDC2	Q7Z4H3	447
DRICH1	DPCD	Q9BVM2	433

IntAct

18 interactions, top by confidence:

A	B	Type	Score
DRICH1	MYOZ2	psi-mi:“MI:0915”(physical association)	0.560
DRICH1	SHFL	psi-mi:“MI:0915”(physical association)	0.560
MYOZ2	DRICH1	psi-mi:“MI:0915”(physical association)	0.560
SHFL	DRICH1	psi-mi:“MI:0915”(physical association)	0.560
CSNK1D	DRICH1	psi-mi:“MI:0915”(physical association)	0.560
DRICH1	CSNK1G3	psi-mi:“MI:0915”(physical association)	0.560
DRICH1	CSNK1E	psi-mi:“MI:0914”(association)	0.530
DRICH1	CSNK1D	psi-mi:“MI:0915”(physical association)	0.000
SHFL	DRICH1	psi-mi:“MI:0915”(physical association)	0.000
CSNK1D	DRICH1	psi-mi:“MI:0915”(physical association)	0.000
CSNK1G3	DRICH1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): MYOZ2 (Two-hybrid), C19orf66 (Two-hybrid), PLK1 (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), SRP14 (Affinity Capture-MS), CSNK1E (Affinity Capture-MS), CSNK1D (Affinity Capture-MS), ZNF852 (Affinity Capture-MS), CSNK1E (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), PLK1 (Affinity Capture-MS), DRICH1 (Two-hybrid), DRICH1 (Two-hybrid), DRICH1 (Two-hybrid), ZNF852 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D9BZF0, A6QL64, B4DH59, B5DUH6, D3YZV8, E9Q6E9, O43493, O46383, O77733, P06916, P08116, P0C758, P0DKJ7, P0DKJ8, P0DPF3, P31568, P62521, Q01033, Q01042, Q1HVF7, Q2W8Q7, Q3BBV2, Q42626, Q42627, Q4ZJZ1, Q4ZJZ3, Q5JPF3, Q5MJ10, Q6AXX0, Q6GX35, Q6IC83, Q6P3W6, Q6PGQ1, Q7M4S9, Q7M732, Q86T75, Q8BP27, Q8IZU1, Q8N2N9, Q96QF7

Diamond homologs: Q6IC83, Q6PGQ1, D3YUJ3, Q8N7R7, A0A8V8TMC4, A6NIR3, P0C7X3, P34624, Q08CI4, Q28EL0, Q4R871, Q5T2Q4, Q5U5D0, Q5VUJ5, Q5VW22, Q6NRF4, Q7FAT5, Q8BGU5, Q8ND76, Q96P64

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	34
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1445 predictions. Top by Δscore:

Variant	Effect	Δscore
22:23613333:T:C	acceptor_gain	1.0000
22:23613333:T:TC	acceptor_gain	1.0000
22:23614129:TCTTA:T	donor_loss	1.0000
22:23614130:CTTA:C	donor_loss	1.0000
22:23614131:TTACG:T	donor_loss	1.0000
22:23614132:TA:T	donor_loss	1.0000
22:23614133:A:AC	donor_gain	1.0000
22:23614133:ACGT:A	donor_loss	1.0000
22:23614134:C:A	donor_loss	1.0000
22:23614134:C:CT	donor_gain	1.0000
22:23614134:CGTGG:C	donor_gain	1.0000
22:23614211:CAAG:C	acceptor_gain	1.0000
22:23614212:AAG:A	acceptor_gain	1.0000
22:23614213:AG:A	acceptor_gain	1.0000
22:23614215:C:CC	acceptor_gain	1.0000
22:23614215:C:T	acceptor_loss	1.0000
22:23614216:T:C	acceptor_loss	1.0000
22:23617569:TCTTA:T	donor_loss	1.0000
22:23617570:CTTAC:C	donor_loss	1.0000
22:23617571:TTACC:T	donor_loss	1.0000
22:23617572:TACCT:T	donor_loss	1.0000
22:23622085:TCTTA:T	donor_loss	1.0000
22:23622086:CTTAC:C	donor_loss	1.0000
22:23622087:TTACC:T	donor_loss	1.0000
22:23622088:TACC:T	donor_loss	1.0000
22:23622089:A:T	donor_loss	1.0000
22:23622090:C:G	donor_loss	1.0000
22:23625975:TCTTA:T	donor_loss	1.0000
22:23625976:CTTA:C	donor_loss	1.0000
22:23625977:TTA:T	donor_loss	1.0000

AlphaMissense

1524 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:23619377:A:C	F141L	0.919
22:23619377:A:T	F141L	0.919
22:23619379:A:G	F141L	0.919
22:23614192:A:C	F188L	0.898
22:23614192:A:T	F188L	0.898
22:23614194:A:G	F188L	0.898
22:23626017:A:C	F80L	0.890
22:23626017:A:T	F80L	0.890
22:23626019:A:G	F80L	0.890
22:23613314:A:C	S220R	0.842
22:23613314:A:T	S220R	0.842
22:23613316:T:G	S220R	0.842
22:23624903:A:G	I93T	0.834
22:23616873:A:G	I174T	0.825
22:23620614:A:G	I129T	0.813
22:23631839:A:G	I62T	0.802
22:23613327:A:G	L216S	0.793
22:23617635:A:C	S153R	0.767
22:23617635:A:T	S153R	0.767
22:23617637:T:G	S153R	0.767
22:23613308:A:C	S222R	0.758
22:23613308:A:T	S222R	0.758
22:23613310:T:G	S222R	0.758
22:23631839:A:C	I62S	0.756
22:23631848:A:G	L59P	0.737
22:23624903:A:C	I93S	0.724
22:23626024:A:G	L78S	0.723
22:23631835:G:C	S63R	0.720
22:23631835:G:T	S63R	0.720
22:23631837:T:G	S63R	0.720

dbSNP variants (sampled 300 via entrez): RS1000039418 (22:23606803 C>T), RS1000212953 (22:23593109 T>C), RS1000234773 (22:23631290 G>A), RS1000300542 (22:23626209 C>A), RS1000331892 (22:23611490 C>G), RS1000373903 (22:23587739 G>A), RS1000404878 (22:23601373 T>C), RS1000453116 (22:23582139 C>G,T), RS1000508939 (22:23581194 C>A), RS1000745389 (22:23588007 T>C), RS1000807765 (22:23590711 G>A), RS1000837539 (22:23616294 G>T), RS1001015975 (22:23615815 T>C), RS1001135500 (22:23590999 C>T), RS1001150021 (22:23615485 C>T)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	increases expression, decreases expression	2
triphenyl phosphate	affects expression	1
2-butenal	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
tobacco tar	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Plant Oils	increases expression	1
Silicon Dioxide	increases expression	1

Clinical trials (associated diseases)

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