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ADAD1

gene
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Also known as Tenr

Summary

ADAD1 (adenosine deaminase domain containing 1, HGNC:30713) is a protein-coding gene on chromosome 4q27, encoding Adenosine deaminase domain-containing protein 1 (Q96M93). Required for male fertility and normal male germ cell differentiation.

Predicted to enable double-stranded RNA adenosine deaminase activity; double-stranded RNA binding activity; and tRNA-specific adenosine deaminase activity. Predicted to be involved in RNA processing and adenosine to inosine editing. Predicted to act upstream of or within spermatid development. Predicted to be located in male germ cell nucleus. Predicted to be active in cytoplasm and nucleolus.

Source: NCBI Gene 132612 — RefSeq curated summary.

At a glance

  • GWAS associations: 34
  • Clinical variants (ClinVar): 67 total
  • MANE Select transcript: NM_139243

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30713
Approved symbolADAD1
Nameadenosine deaminase domain containing 1
Location4q27
Locus typegene with protein product
StatusApproved
AliasesTenr
Ensembl geneENSG00000164113
Ensembl biotypeprotein_coding
OMIM614130
Entrez132612

Gene structure

Transcript identifiers

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

ENST00000296513, ENST00000388724, ENST00000388725, ENST00000439307, ENST00000446706, ENST00000464160, ENST00000492454

RefSeq mRNA: 3 — MANE Select: NM_139243 NM_001159285, NM_001159295, NM_139243

CCDS: CCDS34058, CCDS54800, CCDS54801

Canonical transcript exons

ENST00000296513 — 13 exons

ExonStartEnd
ENSE00001081556122429626122429784
ENSE00001081557122415379122415616
ENSE00001081558122411222122411392
ENSE00001081560122421261122421390
ENSE00001081561122412580122412809
ENSE00001081563122407908122408031
ENSE00001081566122380062122380241
ENSE00001369233122379372122379445
ENSE00001389701122379011122379115
ENSE00003517166122383799122383966
ENSE00003533480122380992122381180
ENSE00003651231122393589122393657
ENSE00003788695122396252122396377

Expression profiles

Bgee: expression breadth broad, 46 present calls, max score 98.96.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2103 / max 176.3742, expressed in 6 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter IDTPM avgSamples expressed
495350.12225
495300.02813
495320.01253
495280.01193
495360.00893
495340.00743
495310.00713
495290.00593
495330.00453
495370.00202

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spermCL:000001998.96gold quality
secondary oocyteCL:000065597.82gold quality
left testisUBERON:000453395.79gold quality
adult organismUBERON:000702395.78gold quality
oocyteCL:000002395.75gold quality
right testisUBERON:000453495.49gold quality
testisUBERON:000047393.64gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047387.49gold quality
tibialis anteriorUBERON:000138583.88silver quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.59gold quality
buccal mucosa cellCL:000233681.65silver quality
cardiac muscle of right atriumUBERON:000337972.97gold quality
left ventricle myocardiumUBERON:000656672.82gold quality
ileal mucosaUBERON:000033171.79silver quality
pancreatic ductal cellCL:000207971.06silver quality
myocardiumUBERON:000234960.17gold quality
upper leg skinUBERON:000426259.47silver quality
skin of hipUBERON:000155456.70silver quality
epithelial cell of pancreasCL:000008355.99gold quality
quadriceps femorisUBERON:000137755.50gold quality
epithelium of nasopharynxUBERON:000195154.62gold quality
kidney epitheliumUBERON:000481953.93gold quality
upper arm skinUBERON:000426353.52gold quality
vastus lateralisUBERON:000137953.35gold quality
nasal cavity epitheliumUBERON:000538452.28gold quality
gingival epitheliumUBERON:000194950.51gold quality
cardia of stomachUBERON:000116249.40gold quality
gingivaUBERON:000182847.27gold quality
cauda epididymisUBERON:000436046.54gold quality
superior surface of tongueUBERON:000737146.40gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-GEOD-134144yes28.99
E-ANND-3yes3.92

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 4)

  • Genetic variation in a linkage disequilibrium block encompassing the KIAA1109-TENR-IL2-IL21 genes predisposes to celiac disease. (PMID:17558408)
  • Using a family-based study, we have provided a trend for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in populations of European descent (PMID:19302705)
  • The KIAA1109-TENR-IL2-IL21 gene cluster, that encodes an interleukin (IL-21) that plays an important role in Th17 cell biology, is the 20th locus for which there is a genome-wide level of support for association with rheumatoid arthritis. (PMID:20553587)
  • ADAD1_rs17388568 AA was associated with a lower risk of having joints with Limitation of motion in patients with Juvenile Idiopathic Arthritis. (PMID:28145159)

Cross-species orthologs

8 orthologs

OrganismSymbolGene ID
danio_rerioadad1ENSDARG00000089181
mus_musculusAdad1ENSMUSG00000027719
rattus_norvegicusAdad1ENSRNOG00000017246
drosophila_melanogasterloqsFBGN0032515
drosophila_melanogasterCG12493FBGN0035571
drosophila_melanogasterblanksFBGN0035608
drosophila_melanogasterZn72DFBGN0263603
caenorhabditis_eleganszfr-1WBGENE00022388

Paralogs (14): STAU2 (ENSG00000040341), ZFR (ENSG00000056097), ADAT1 (ENSG00000065457), ZFR2 (ENSG00000105278), STAU1 (ENSG00000124214), ILF3 (ENSG00000129351), TARBP2 (ENSG00000139546), ADAD2 (ENSG00000140955), ILF2 (ENSG00000143621), ADAR (ENSG00000160710), STRBP (ENSG00000165209), PRKRA (ENSG00000180228), ADARB2 (ENSG00000185736), ADARB1 (ENSG00000197381)

Protein

Protein identifiers

Adenosine deaminase domain-containing protein 1 — Q96M93 (reviewed: Q96M93)

Alternative names: Testis nuclear RNA-binding protein

All UniProt accessions (4): A0A140VKH5, C9JAT9, C9JGM6, Q96M93

UniProt curated annotations — full annotation on UniProt →

Function. Required for male fertility and normal male germ cell differentiation. Plays a role in spermatogenesis. Binds to RNA but not to DNA.

Subcellular location. Nucleus.

Similarity. Belongs to the ADAD family.

Isoforms (3)

UniProt IDNamesCanonical?
Q96M93-11yes
Q96M93-22
Q96M93-33

RefSeq proteins (3): NP_001152757, NP_001152767, NP_640336* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002466A_deaminDomain
IPR014720dsRBD_domDomain
IPR044455ADAD1_DSRMDomain

Pfam: PF00035, PF02137

UniProt features (7 total): domain 2, splice variant 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96M93-F178.190.50

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 62 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_MALE_GAMETE_GENERATION, GOBP_RNA_MODIFICATION, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOCC_NUCLEOLUS, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_CYCLIC_AMIDINES, MATZUK_SPERMATOZOA, GOMF_ADENOSINE_DEAMINASE_ACTIVITY, GOMF_DEAMINASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3_UNMETHYLATED, GOBP_ADENOSINE_TO_INOSINE_EDITING

GO Biological Process (5): adenosine to inosine editing (GO:0006382), RNA processing (GO:0006396), spermatid development (GO:0007286), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (5): double-stranded RNA binding (GO:0003725), double-stranded RNA adenosine deaminase activity (GO:0003726), tRNA-specific adenosine deaminase activity (GO:0008251), RNA binding (GO:0003723), adenosine deaminase activity (GO:0004000)

GO Cellular Component (4): male germ cell nucleus (GO:0001673), nucleolus (GO:0005730), cytoplasm (GO:0005737), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
deaminase activity2
base conversion or substitution editing1
gene expression1
RNA biosynthetic process1
primary metabolic process1
germ cell development1
spermatid differentiation1
developmental process involved in reproduction1
male gamete generation1
cellular developmental process1
RNA binding1
adenosine deaminase activity1
catalytic activity, acting on a tRNA1
nucleic acid binding1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines1
germ cell nucleus1
nuclear lumen1
intracellular membraneless organelle1
intracellular anatomical structure1
cellular anatomical structure1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

944 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ADAD1BLTP1Q2LD37959
ADAD1TAGAPQ8N103680
ADAD1MYO9BQ13459639
ADAD1SH2B3Q9UQQ2632
ADAD1IL2P01585616
ADAD1IL18R1Q13478549
ADAD1TOR1AO14656544
ADAD1RGS1Q08116530
ADAD1ADAP00813493
ADAD1TSNAXIP1Q2TAA8490
ADAD1NAA25Q14CX7479
ADAD1Q5Y7H0Q5Y7H0459
ADAD1CHCHD1Q96BP2458
ADAD1FBLL1A6NHQ2457
ADAD1PTPN2P17706449

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0JM23, A0JMU5, D3ZVK1, E1BPX4, E9PXF8, E9Q956, G5EF51, P0CI65, P49717, P57075, P81128, P83509, Q008S8, Q0V9Q6, Q16K67, Q1RMS6, Q32NG0, Q32NR9, Q3EBC8, Q3V3E1, Q4G0Z9, Q5N870, Q5R6Y2, Q5XI14, Q5ZL91, Q66IW8, Q692V3, Q6AZT7, Q6DIR8, Q6NTN5, Q6P2P2, Q6P2S7, Q6P5D8, Q6ZS30, Q7TQK1, Q7Z392, Q7Z494, Q80VJ4, Q8BGG7, Q8C0L9

Diamond homologs: A0A7H0DN38, A8EV88, P19525, P21081, P21605, P33863, P55265, P55266, Q32NG0, Q3KR54, Q5SUE7, Q63184, Q96M93, Q99MU3, Q9DHS8, O42912, Q28FE8, Q4R7N3, Q5ZI16, Q9BUB4, Q9JHI2, Q9U3D6, Q8NCV1, Q95JV3, Q9D5P4, P51400, Q54XP3, Q9NS39, Q9V3R6, P97616, Q22618, Q9JI20, F4HU58, Q91ZS8, B9KGT5, P78563, Q08E27, Q12906, Q2GIW0, Q5P9U8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance64
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2076 predictions. Top by Δscore:

VariantEffectΔscore
4:122380239:CGG:Cdonor_loss1.0000
4:122380240:GG:Gdonor_gain1.0000
4:122380241:GG:Gdonor_gain1.0000
4:122380241:GGTA:Gdonor_loss1.0000
4:122380242:G:GGdonor_gain1.0000
4:122380242:G:Tdonor_loss1.0000
4:122380243:T:Adonor_loss1.0000
4:122380990:A:AGacceptor_gain1.0000
4:122380990:AG:Aacceptor_gain1.0000
4:122380991:G:Aacceptor_loss1.0000
4:122380991:G:GGacceptor_gain1.0000
4:122380991:GG:Gacceptor_gain1.0000
4:122380991:GGT:Gacceptor_gain1.0000
4:122380991:GGTA:Gacceptor_gain1.0000
4:122380991:GGTAA:Gacceptor_gain1.0000
4:122381165:G:GTdonor_gain1.0000
4:122381166:A:Tdonor_gain1.0000
4:122381179:AGG:Adonor_loss1.0000
4:122381180:GGCA:Gdonor_loss1.0000
4:122381181:GCAA:Gdonor_loss1.0000
4:122381185:GT:Gdonor_gain1.0000
4:122381190:AAATT:Adonor_gain1.0000
4:122383835:T:TAacceptor_gain1.0000
4:122383965:AGGT:Adonor_loss1.0000
4:122383967:GTA:Gdonor_loss1.0000
4:122383968:T:Adonor_loss1.0000
4:122396250:AGAAG:Aacceptor_gain1.0000
4:122396251:GAA:Gacceptor_gain1.0000
4:122396251:GAAGG:Gacceptor_gain1.0000
4:122407902:TTTCA:Tacceptor_loss1.0000

AlphaMissense

3775 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:122381118:C:AA100D0.999
4:122381121:T:CL101S0.999
4:122383819:T:CF128L0.999
4:122383821:T:AF128L0.999
4:122383821:T:GF128L0.999
4:122383832:C:AA132D0.999
4:122383878:A:CK147N0.999
4:122383878:A:TK147N0.999
4:122383897:G:CA154P0.999
4:122383898:C:AA154E0.999
4:122383900:G:CA155P0.999
4:122383901:C:AA155E0.999
4:122383910:C:AA158D0.999
4:122383913:T:CL159P0.999
4:122381087:T:GY90D0.998
4:122381117:G:CA100P0.998
4:122383862:G:AG142E0.998
4:122383868:G:AG144E0.998
4:122421292:A:CS507R0.998
4:122421294:T:AS507R0.998
4:122421294:T:GS507R0.998
4:122421303:T:GC510W0.998
4:122383861:G:AG142R0.997
4:122383861:G:CG142R0.997
4:122383867:G:AG144R0.997
4:122383867:G:CG144R0.997
4:122383868:G:TG144V0.997
4:122383876:A:GK147E0.997
4:122383885:T:CS150P0.997
4:122383909:G:CA158P0.997

dbSNP variants (sampled 300 via entrez): RS1000235563 (4:122406031 A>C), RS1000346001 (4:122413304 G>A), RS1000385824 (4:122426273 A>C), RS1000475149 (4:122406985 A>G,T), RS1000541238 (4:122388217 C>A,T), RS1000541577 (4:122399254 T>G), RS1000608671 (4:122426385 T>C), RS1000656486 (4:122381854 G>A,T), RS1000696504 (4:122413666 A>G), RS1000768550 (4:122388257 G>A), RS1000773731 (4:122377071 C>T), RS1000806481 (4:122405701 C>G,T), RS1000869815 (4:122395032 C>CTA,CTATA), RS1001028644 (4:122401673 T>C), RS1001062256 (4:122419323 A>G)

Disease associations

OMIM: gene MIM:614130 | disease phenotypes: MIM:616577

GenCC curated gene-disease

Mondo (1): microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (MONDO:0014698)

Orphanet (1): Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (Orphanet:457351)

HPO phenotypes

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

GWAS associations

34 associations (top):

StudyTraitp-value
GCST000048_2Celiac disease1.000000e-14
GCST000157_8Celiac disease3.000000e-13
GCST000964_33Ulcerative colitis9.000000e-07
GCST001191_3Type 1 diabetes6.000000e-06
GCST002083_16Self-reported allergy4.000000e-08
GCST002084_6Allergic sensitization6.000000e-10
GCST002520_7Celiac disease3.000000e-11
GCST004131_73Inflammatory bowel disease1.000000e-07
GCST004132_89Crohn’s disease9.000000e-07
GCST004644_1Vaso-occlusive pain in sickle-cell anemia6.000000e-08
GCST004866_24Alopecia areata1.000000e-06
GCST005038_39Allergic disease (asthma, hay fever or eczema)9.000000e-27
GCST005523_20Celiac disease2.000000e-38
GCST007563_21Allergic disease (asthma, hay fever or eczema)4.000000e-10
GCST007564_10Asthma or allergic disease (pleiotropy)3.000000e-12
GCST007797_30Asthma onset (childhood vs adult)5.000000e-08
GCST007798_66Asthma2.000000e-21
GCST007798_67Asthma2.000000e-18
GCST007799_43Asthma (adult onset)8.000000e-10
GCST007799_46Asthma (adult onset)2.000000e-10
GCST007800_24Asthma (childhood onset)6.000000e-36
GCST007994_15Asthma (age of onset)8.000000e-06
GCST007995_16Asthma (childhood onset)2.000000e-14
GCST008103_153Bipolar disorder5.000000e-06
GCST008489_18Celiac disease1.000000e-08
GCST008916_105Asthma1.000000e-12
GCST008916_118Asthma4.000000e-15
GCST008916_22Asthma2.000000e-08
GCST009719_22Allergic rhinitis5.000000e-15
GCST009720_99Asthma5.000000e-20

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0005298allergic sensitization measurement
EFO:0008316vaso-occlusive pain measurement
EFO:0004847age at onset
EFO:1002011adult onset asthma

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

ChemicalActions (top 5)PubMed papers
(+)-JQ1 compounddecreases expression1
MT19c compounddecreases expression1
Benzo(a)pyreneaffects methylation1
Polychlorinated Biphenylsaffects expression1
Theophyllinedecreases expression1
Valproic Acidincreases methylation1
Aflatoxin B1decreases methylation1

Clinical trials (associated diseases)

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

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot