DORIP1

gene
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Also known as DRIP-1DRIP1

Summary

DORIP1 (dopamine receptor interacting protein 1, HGNC:19834) is a protein-coding gene on chromosome 14q21.2, encoding Dopamine receptor-interacting protein 1 (Q4W4Y0). Could be a regulator of the dopamine receptor signaling pathway.

Predicted to act upstream of or within with a positive effect on NMDA selective glutamate receptor signaling pathway and cAMP-mediated signaling. Predicted to act upstream of or within several processes, including G protein-coupled dopamine receptor signaling pathway; memory; and neurogenesis.

Source: NCBI Gene 122525 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 16 total — 1 pathogenic
  • MANE Select transcript: NM_001017923

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:19834
Approved symbolDORIP1
Namedopamine receptor interacting protein 1
Location14q21.2
Locus typegene with protein product
StatusApproved
AliasesDRIP-1, DRIP1
Ensembl geneENSG00000179476
Ensembl biotypeprotein_coding
Entrez122525

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000325192, ENST00000553841, ENST00000555826, ENST00000557112, ENST00000866782, ENST00000866783, ENST00000866784

RefSeq mRNA: 1 — MANE Select: NM_001017923 NM_001017923

CCDS: CCDS32069

Canonical transcript exons

ENST00000325192 — 5 exons

ExonStartEnd
ENSE000012283964490536744907257
ENSE000012284024490043544900959
ENSE000014913704489727544897568
ENSE000034959404490320744903296
ENSE000035014094490439544904529

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 94.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4334 / max 144.9108, expressed in 1702 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1394024.03161595
1394032.40181201

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spermCL:000001994.30gold quality
secondary oocyteCL:000065591.30gold quality
pancreatic ductal cellCL:000207990.99gold quality
buccal mucosa cellCL:000233690.90silver quality
epithelial cell of pancreasCL:000008385.16gold quality
cauda epididymisUBERON:000436083.95gold quality
caput epididymisUBERON:000435883.11gold quality
calcaneal tendonUBERON:000370182.87gold quality
myometriumUBERON:000129682.70gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.64gold quality
body of uterusUBERON:000985382.36gold quality
middle temporal gyrusUBERON:000277182.29gold quality
oocyteCL:000002382.25gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047382.24gold quality
popliteal arteryUBERON:000225081.94gold quality
tibial arteryUBERON:000761081.93gold quality
Brodmann (1909) area 23UBERON:001355481.22gold quality
corpus epididymisUBERON:000435981.12gold quality
aortaUBERON:000094780.82gold quality
endothelial cellCL:000011580.64gold quality
left coronary arteryUBERON:000162680.64gold quality
mammary ductUBERON:000176580.29gold quality
epithelium of mammary glandUBERON:000324480.24gold quality
saphenous veinUBERON:000731880.24gold quality
lower esophagus muscularis layerUBERON:003583380.19gold quality
lower esophagusUBERON:001347380.17gold quality
coronary arteryUBERON:000162180.14gold quality
esophagogastric junction muscularis propriaUBERON:003584179.91gold quality
upper arm skinUBERON:000426379.82gold quality
right coronary arteryUBERON:000162579.69gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no2.73

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

153 targeting DORIP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-340-5P100.0072.504437
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-4262100.0073.263931
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-450099.9972.722367
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-34A-5P99.9971.211784
HSA-MIR-449A99.9971.051776
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-548AW99.9972.573559
HSA-MIR-428299.9975.366408
HSA-MIR-186-5P99.9970.833707
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7F-5P99.9872.561784
HSA-LET-7G-5P99.9872.371784

Literature-anchored findings (GeneRIF, showing 1)

  • our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder (PMID:20874815)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioDORIP1ENSDARG00000102021
mus_musculusGm527ENSMUSG00000047227
rattus_norvegicusC6h14orf28ENSRNOG00000023230

Protein

Protein identifiers

Dopamine receptor-interacting protein 1Q4W4Y0 (reviewed: Q4W4Y0)

All UniProt accessions (2): Q4W4Y0, G3V4G8

UniProt curated annotations — full annotation on UniProt →

Function. Could be a regulator of the dopamine receptor signaling pathway.

Subunit / interactions. Interacts with DRD1.

RefSeq proteins (1): NP_001017923* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR040029C14orf28-likeFamily

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q4W4Y0-F183.150.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 134 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, ACTACCT_MIR196A_MIR196B, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, BASAKI_YBX1_TARGETS_DN, ACTTTAT_MIR1425P, CTTTGTA_MIR524, GOBP_G_PROTEIN_COUPLED_DOPAMINE_RECEPTOR_SIGNALING_PATHWAY, SENESE_HDAC3_TARGETS_DN, GOBP_GLUTAMATE_RECEPTOR_SIGNALING_PATHWAY, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D, LIU_PROSTATE_CANCER_DN

GO Biological Process (6): G protein-coupled dopamine receptor signaling pathway (GO:0007212), memory (GO:0007613), gene expression (GO:0010467), obsolete cAMP-mediated signaling (GO:0019933), neurogenesis (GO:0022008), NMDA selective glutamate receptor signaling pathway (GO:0098989)

GO Molecular Function (0):

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
synaptic transmission, dopaminergic1
G protein-coupled receptor signaling pathway1
cellular response to dopamine1
learning or memory1
macromolecule biosynthetic process1
nervous system development1
cell differentiation1
NMDA glutamate receptor activity1
ionotropic glutamate receptor signaling pathway1

Protein interactions and networks

STRING

200 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DORIP1KLHL28Q9NXS3642
DORIP1DOCK10Q96BY6597
DORIP1TOGARAM1Q9Y4F4446
DORIP1PRPF39Q86UA1418
DORIP1FIGNL2A6NMB9402
DORIP1BSDC1Q9NW68390
DORIP1ICE1Q9Y2F5371
DORIP1EIF4HQ15056364
DORIP1SFT2D1Q8WV19356
DORIP1FKBP3Q00688349
DORIP1DTNAQ9Y4J8345
DORIP1ANKDD1AQ495B1324
DORIP1SMIM28A0A1B0GU29305
DORIP1PEX2P28328305
DORIP1MTCL1Q9Y4B5265

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A1ZAW0, A8WS92, A8WZU5, B0JZ65, O60152, O62301, O94536, P16320, P24271, P34601, P34607, P87231, P90740, P91133, Q04149, Q04638, Q09884, Q16YA8, Q19546, Q196T9, Q1EHT7, Q21988, Q23243, Q23541, Q2KIN3, Q3SWY8, Q3T9Z9, Q45EK7, Q4KL13, Q4R4A2, Q4W4Y0, Q5EA92, Q5U2S3, Q6FYA6, Q6GM71, Q7M3K2, Q7YTB0, Q8N8R7, Q8WT44, Q91829

Diamond homologs: Q2KIN3, Q4KL13, Q4W4Y0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance5
Likely benign1
Benign6

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
2426634NC_000014.8:g.(?44820816)(45645917_?)delPathogenic

SpliceAI

876 predictions. Top by Δscore:

VariantEffectΔscore
14:44897564:GGGAG:Gdonor_gain1.0000
14:44897565:GGAGG:Gdonor_gain1.0000
14:44897566:G:Tdonor_gain1.0000
14:44903203:ATAGT:Aacceptor_loss1.0000
14:44903204:TA:Tacceptor_loss1.0000
14:44903205:A:AGacceptor_gain1.0000
14:44903206:G:GGacceptor_gain1.0000
14:44903206:GT:Gacceptor_gain1.0000
14:44903206:GTC:Gacceptor_gain1.0000
14:44903206:GTCC:Gacceptor_gain1.0000
14:44903206:GTCCT:Gacceptor_gain1.0000
14:44903294:TGG:Tdonor_gain1.0000
14:44903295:GG:Gdonor_gain1.0000
14:44903295:GGG:Gdonor_gain1.0000
14:44903296:GG:Gdonor_gain1.0000
14:44903297:G:GGdonor_gain1.0000
14:44904388:A:AGacceptor_gain1.0000
14:44904389:TTTTA:Tacceptor_loss1.0000
14:44904391:TTAG:Tacceptor_loss1.0000
14:44904392:TAGGT:Tacceptor_loss1.0000
14:44904393:A:AGacceptor_gain1.0000
14:44904393:AG:Aacceptor_gain1.0000
14:44904393:AGGT:Aacceptor_gain1.0000
14:44904394:G:GGacceptor_gain1.0000
14:44904394:GG:Gacceptor_gain1.0000
14:44904394:GGT:Gacceptor_gain1.0000
14:44904394:GGTG:Gacceptor_gain1.0000
14:44904394:GGTGT:Gacceptor_gain1.0000
14:44904491:GGC:Gdonor_gain1.0000
14:44904492:GC:Gdonor_gain1.0000

AlphaMissense

2054 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:44904454:T:AV225D0.993
14:44905425:T:CF270L0.993
14:44905427:C:AF270L0.993
14:44905427:C:GF270L0.993
14:44900757:T:AW108R0.992
14:44900757:T:CW108R0.992
14:44900863:T:CL143P0.992
14:44905443:T:AW276R0.992
14:44905443:T:CW276R0.992
14:44900850:T:CF139L0.990
14:44900852:T:AF139L0.990
14:44900852:T:GF139L0.990
14:44905426:T:CF270S0.990
14:44900619:T:CF62L0.989
14:44900621:C:AF62L0.989
14:44900621:C:GF62L0.989
14:44904460:T:CL227S0.988
14:44900829:T:CF132L0.987
14:44900831:T:AF132L0.987
14:44900831:T:GF132L0.987
14:44900913:T:CC160R0.986
14:44900900:T:GC155W0.985
14:44900614:A:TD60V0.984
14:44904429:T:CF217L0.984
14:44904431:C:AF217L0.984
14:44904431:C:GF217L0.984
14:44904451:T:CF224S0.984
14:44904474:T:AW232R0.984
14:44904474:T:CW232R0.984
14:44905383:G:CA256P0.984

dbSNP variants (sampled 300 via entrez): RS1000012068 (14:44898402 A>G), RS1000308755 (14:44904253 C>A,T), RS1000340555 (14:44906074 T>G), RS1000374803 (14:44905740 T>A), RS1000914335 (14:44902820 G>A,C), RS1001016554 (14:44897444 A>G), RS1001049279 (14:44897286 C>G,T), RS1001347005 (14:44902600 G>A), RS1001767926 (14:44907593 G>A,C,T), RS1001949645 (14:44901169 G>A), RS1002025464 (14:44896335 T>C), RS1002739667 (14:44906186 C>T), RS1003168578 (14:44898102 C>G,T), RS1003749839 (14:44904735 T>C,G), RS1003779412 (14:44904320 T>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:227650

GenCC curated gene-disease

Mondo (1): Fanconi anemia (MONDO:0019391)

Orphanet (1): Fanconi anemia (Orphanet:84)

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST004104_1Body mass index (change over time) in lung cancer2.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0005937longitudinal BMI measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D005199Fanconi AnemiaC15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Cyclosporineincreases expression4
Valproic Acidaffects expression, decreases expression, increases expression3
Nickeldecreases expression2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
p-Chloromercuribenzoic Acidaffects cotreatment, decreases expression2
aristolochic acid Idecreases expression1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamidedecreases expression1
triphenyl phosphateaffects expression1
trichostatin Aincreases expression1
mono-(2-ethylhexyl)phthalateincreases abundance, increases methylation1
butyraldehydedecreases expression1
ferrous chloridedecreases expression1
di-n-butylphosphoric acidaffects expression1
GW 1929affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
NSC 689534affects binding, increases expression1
Air Pollutantsdecreases expression, increases abundance1
Benzo(a)pyrenedecreases methylation1
Copperaffects binding, increases expression1
Demecolcineincreases expression1
Diethylhexyl Phthalateincreases abundance, increases methylation1
Estradioldecreases expression1
Ethyl Methanesulfonateincreases expression1
Formaldehydeincreases expression1
Methyl Methanesulfonateincreases expression1
Oxygenincreases expression1
Potassium Chloridedecreases expression, decreases response to substance1
Quercetindecreases expression1
Smokedecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT06519786PHASE3UNKNOWNSafety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT00000603PHASE2COMPLETEDCord Blood Stem Cell Transplantation Study (COBLT)
NCT00001749PHASE2COMPLETEDMedical Treatment for Diamond Blackfan Anemia
NCT00004787PHASE2COMPLETEDPhase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
NCT00053989PHASE2COMPLETEDNMA Allogeneic Hematopoietic Cell Transplant in Hematologic Cancer/Disorders
NCT00084695PHASE2UNKNOWNUmbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases
NCT00258427PHASE2COMPLETEDHematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
NCT00453388PHASE2COMPLETEDFludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia
NCT01071239PHASE2COMPLETEDHematopoietic Stem Cell Transplant for Fanconi Anemia
NCT02143830PHASE2RECRUITINGHSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy
NCT02931071PHASE2COMPLETEDClinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1
NCT03206086PHASE2ACTIVE_NOT_RECRUITINGEltrombopag for People With Fanconi Anemia
NCT03398824PHASE2COMPLETEDPilot Study of Metformin for Patients With Fanconi Anemia
NCT03476330PHASE2COMPLETEDQuercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia
NCT03579875PHASE2RECRUITINGAlpha/Beta TCD HCT in Patients With Inherited BMF Disorders
NCT03600909PHASE2TERMINATEDA Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia
NCT04232085PHASE2RECRUITINGRegenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
NCT06045052PHASE2COMPLETEDEltrombopag for Treatment of Fanconi Anemia
NCT00001399PHASE1COMPLETEDGene Therapy for the Treatment of Fanconi’s Anemia Type C
NCT00005896PHASE1UNKNOWNPhase I Pilot Study of CD34 Enriched, Fanconi’s Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi’s Anemia
NCT00006127PHASE1UNKNOWNPhase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi’s Anemia
NCT00093743PHASE1COMPLETEDLow-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia
NCT00243399PHASE1COMPLETEDOxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia
NCT00272857PHASE1COMPLETEDBone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia
NCT00317876PHASE1COMPLETEDCyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi’s Anemia
NCT00586274PHASE1TERMINATEDUse of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT
NCT01331018PHASE1TERMINATEDGene Therapy for Fanconi Anemia
NCT01720147PHASE1COMPLETEDQuercetin in Children With Fanconi Anemia; a Pilot Study
NCT01917708PHASE1COMPLETEDBone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00352976PHASE2/PHASE3COMPLETEDTBI Dose De-escalation for Fanconi Anemia
NCT01019876PHASE2/PHASE3COMPLETEDRisk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
NCT00005898PHASE1/PHASE2COMPLETEDPhase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi’s Anemia
NCT00167206PHASE1/PHASE2TERMINATEDStem Cell Transplantation for Fanconi Anemia
NCT00305708PHASE1/PHASE2COMPLETEDBusulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT00479115PHASE1/PHASE2COMPLETEDMobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100
NCT00590460PHASE1/PHASE2TERMINATEDAntibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia
NCT00630253PHASE1/PHASE2COMPLETEDCytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia
NCT01001598PHASE1/PHASE2TERMINATEDSafety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
NCT02065869PHASE1/PHASE2TERMINATEDSafety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT02678533PHASE1/PHASE2COMPLETEDMobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Fanconi anemia