Human Gene ADAR (ENST00000368474.9_11) from GENCODE V47lift37
  Description: adenosine deaminase RNA specific, transcript variant 1 (from RefSeq NM_001111.5)
Gencode Transcript: ENST00000368474.9_11
Gencode Gene: ENSG00000160710.19_18
Transcript (Including UTRs)
   Position: hg19 chr1:154,554,533-154,580,662 Size: 26,130 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr1:154,557,282-154,580,482 Size: 23,201 Coding Exon Count: 15 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:154,554,533-154,580,662)mRNA (may differ from genome)Protein (1226 aa)
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-  Comments and Description Text from UniProtKB
  ID: DSRAD_HUMAN
DESCRIPTION: RecName: Full=Double-stranded RNA-specific adenosine deaminase; Short=DRADA; EC=3.5.4.-; AltName: Full=136 kDa double-stranded RNA-binding protein; Short=p136; AltName: Full=Interferon-inducible protein 4; Short=IFI-4; AltName: Full=K88DSRBP;
FUNCTION: Converts multiple adenosines to inosines and creates I/U mismatched base pairs in double-helical RNA substrates without apparent sequence specificity. Has been found to modify more frequently adenosines in AU-rich regions, probably due to the relative ease of melting A/U base pairs as compared to G/C pairs. Functions to modify viral RNA genomes and may be responsible for hypermutation of certain negative-stranded viruses. Edits the messenger RNAs for glutamate receptor (GLUR) subunits by site- selective adenosine deamination. Produces low-level editing at the GLUR-B Q/R site, but edits efficiently at the R/G site and HOTSPOT1. Binds to short interfering RNAs (siRNA) without editing them and suppresses siRNA-mediated RNA interference. Binds to ILF3/NF90 and up-regulates ILF3-mediated gene expression.
SUBUNIT: Homodimer. Isoform 1 interacts with ILF2/NF45 and ILF3/NF90.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus.
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Note=Found predominantly in cytoplasm but appears to shuttle between the cytoplasm and nucleus.
SUBCELLULAR LOCATION: Isoform 5: Nucleus, nucleolus.
TISSUE SPECIFICITY: Ubiquitously expressed, highest levels were found in brain and lung.
INDUCTION: Isoform 1 is induced by interferon alpha. Isoform 5 is constitutively expressed.
PTM: Sumoylation reduces RNA-editing activity.
DISEASE: Defects in ADAR are a cause of dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]; also known as reticulate acropigmentation of Dohi. DSH is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal parts of the hands and feet.
SIMILARITY: Contains 1 A to I editase domain.
SIMILARITY: Contains 2 DRADA repeats.
SIMILARITY: Contains 3 DRBM (double-stranded RNA-binding) domains.
CAUTION: The N-terminus of isoform 4 has been derived from EST and genomic sequences.
SEQUENCE CAUTION: Sequence=CAE45853.1; Type=Erroneous termination; Positions=1227; Note=Translated as stop;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ADAR
Diseases sorted by gene-association score: dyschromatosis symmetrica hereditaria* (1727), aicardi-goutieres syndrome 6* (1330), familial infantile bilateral striatal necrosis* (202), adar-related aicardi-goutieres syndrome* (200), aicardi-goutieres syndrome* (158), dyschromatosis universalis hereditaria (18), steatitis (16), measles (15), pigmentation disease (13), dyschromatosis universalis (13), non-gestational choriocarcinoma (11), reticulate acropigmentation of kitamura (9), stomatitis (9), cerebral atrophy (8), human t-cell leukemia virus type 2 (8), early onset absence epilepsy (7), dowling-degos disease (7), hepatitis c virus (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 120.38 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1828.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -99.40180-0.552 Picture PostScript Text
3' UTR -881.202749-0.321 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002466 - A_deamin
IPR001159 - Ds-RNA-bd
IPR014720 - dsRNA-bd-like
IPR000607 - dsRNA_A_deaminase
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00035 - Double-stranded RNA binding motif
PF02137 - Adenosine-deaminase (editase) domain
PF02295 - Adenosine deaminase z-alpha domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
54768 - dsRNA-binding domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1QBJ - X-ray MuPIT 1QGP - NMR MuPIT 1XMK - X-ray MuPIT 2ACJ - X-ray MuPIT 2GXB - X-ray MuPIT 2L54 - NMR MuPIT 3F21 - X-ray MuPIT 3F22 - X-ray MuPIT 3F23 - X-ray MuPIT 3IRQ - X-ray MuPIT 3IRR - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P55265
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0003726 double-stranded RNA adenosine deaminase activity
GO:0004000 adenosine deaminase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0001649 osteoblast differentiation
GO:0001701 in utero embryonic development
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002376 immune system process
GO:0002566 somatic diversification of immune receptors via somatic mutation
GO:0006382 adenosine to inosine editing
GO:0006396 RNA processing
GO:0006397 mRNA processing
GO:0006606 protein import into nucleus
GO:0006611 protein export from nucleus
GO:0009615 response to virus
GO:0016553 base conversion or substitution editing
GO:0030218 erythrocyte differentiation
GO:0031047 gene silencing by RNA
GO:0031054 pre-miRNA processing
GO:0035196 production of miRNAs involved in gene silencing by miRNA
GO:0035280 miRNA loading onto RISC involved in gene silencing by miRNA
GO:0035455 response to interferon-alpha
GO:0043066 negative regulation of apoptotic process
GO:0044387 negative regulation of protein kinase activity by regulation of protein phosphorylation
GO:0045070 positive regulation of viral genome replication
GO:0045071 negative regulation of viral genome replication
GO:0045087 innate immune response
GO:0051607 defense response to virus
GO:0060216 definitive hemopoiesis
GO:0060337 type I interferon signaling pathway
GO:0060339 negative regulation of type I interferon-mediated signaling pathway
GO:0061484 hematopoietic stem cell homeostasis
GO:0098586 cellular response to virus
GO:1900369 negative regulation of RNA interference

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0044530 supraspliceosomal complex


-  Descriptions from all associated GenBank mRNAs
  X79448 - H.sapiens IFI-4 mRNA for type I protein.
BC038227 - Homo sapiens adenosine deaminase, RNA-specific, mRNA (cDNA clone MGC:45112 IMAGE:5497548), complete cds.
X79449 - H.sapiens IFI-4 mRNA for type II protein.
BX640741 - Homo sapiens mRNA; cDNA DKFZp686C16112 (from clone DKFZp686C16112).
BX538232 - Homo sapiens mRNA; cDNA DKFZp686M0448 (from clone DKFZp686M0448).
X98559 - H.sapiens mRNA for dsRNA adenosine deaminase, constant region.
U18121 - Homo sapiens p136 (K88dsRBP) mRNA, complete cds.
U10439 - Human double-stranded RNA adenosine deaminase mRNA, complete cds.
JD449264 - Sequence 430288 from Patent EP1572962.
JD409115 - Sequence 390139 from Patent EP1572962.
JD348890 - Sequence 329914 from Patent EP1572962.
JD201356 - Sequence 182380 from Patent EP1572962.
JD273607 - Sequence 254631 from Patent EP1572962.
AK304153 - Homo sapiens cDNA FLJ61696 complete cds, highly similar to Double-stranded RNA-specific adenosine deaminase (EC 3.5.4.-).
JD306005 - Sequence 287029 from Patent EP1572962.
AB209891 - Homo sapiens mRNA for adenosine deaminase, RNA-specific isoform ADAR-a variant protein.
JD041868 - Sequence 22892 from Patent EP1572962.
JD068898 - Sequence 49922 from Patent EP1572962.
JD510663 - Sequence 491687 from Patent EP1572962.
JD266683 - Sequence 247707 from Patent EP1572962.
JD234878 - Sequence 215902 from Patent EP1572962.
JD073708 - Sequence 54732 from Patent EP1572962.
JD298708 - Sequence 279732 from Patent EP1572962.
JD154052 - Sequence 135076 from Patent EP1572962.
JD152826 - Sequence 133850 from Patent EP1572962.
JD322697 - Sequence 303721 from Patent EP1572962.
JD335915 - Sequence 316939 from Patent EP1572962.
JD461133 - Sequence 442157 from Patent EP1572962.
JD534056 - Sequence 515080 from Patent EP1572962.
JD046227 - Sequence 27251 from Patent EP1572962.
JD301502 - Sequence 282526 from Patent EP1572962.
JD538885 - Sequence 519909 from Patent EP1572962.
JD554993 - Sequence 536017 from Patent EP1572962.
JD272340 - Sequence 253364 from Patent EP1572962.
JD163103 - Sequence 144127 from Patent EP1572962.
JD514370 - Sequence 495394 from Patent EP1572962.
JD221702 - Sequence 202726 from Patent EP1572962.
JD492966 - Sequence 473990 from Patent EP1572962.
JD206202 - Sequence 187226 from Patent EP1572962.
JD541185 - Sequence 522209 from Patent EP1572962.
JD153468 - Sequence 134492 from Patent EP1572962.
JD120210 - Sequence 101234 from Patent EP1572962.
JD093551 - Sequence 74575 from Patent EP1572962.
JD520891 - Sequence 501915 from Patent EP1572962.
JD092196 - Sequence 73220 from Patent EP1572962.
JD067806 - Sequence 48830 from Patent EP1572962.
JD508046 - Sequence 489070 from Patent EP1572962.
JD371132 - Sequence 352156 from Patent EP1572962.
JD450279 - Sequence 431303 from Patent EP1572962.
JD270416 - Sequence 251440 from Patent EP1572962.
JD392365 - Sequence 373389 from Patent EP1572962.
JD054866 - Sequence 35890 from Patent EP1572962.
JD549305 - Sequence 530329 from Patent EP1572962.
JD561819 - Sequence 542843 from Patent EP1572962.
KJ544856 - Homo sapiens RNA-specific adenosine deaminase mRNA, complete cds.
EU176459 - Synthetic construct Homo sapiens clone IMAGE:100006532; FLH196560.01X; RZPDo839F10252D adenosine deaminase, RNA-specific (ADAR) gene, encodes complete protein.
EU176799 - Synthetic construct Homo sapiens clone IMAGE:100011561; FLH196556.01L; RZPDo839C06256D adenosine deaminase, RNA-specific (ADAR) gene, encodes complete protein.
DQ585564 - Homo sapiens piRNA piR-52676, complete sequence.
AK097241 - Homo sapiens cDNA FLJ39922 fis, clone SPLEN2020777, highly similar to DOUBLE-STRANDED RNA-SPECIFIC ADENOSINE DEAMINASE (EC 3.5.-.-).
BC017853 - Homo sapiens, clone IMAGE:4285338, mRNA.
EF190450 - Homo sapiens adenosine deaminase acting on RNA 1-B (ADAR) mRNA, 5' UTR, alternatively spliced.
EF190451 - Homo sapiens adenosine deaminase acting on RNA 1-B (ADAR) mRNA, 5' UTR, alternatively spliced.
EF190452 - Homo sapiens adenosine deaminase acting on RNA 1-C (ADAR) mRNA, 5' UTR, alternatively spliced.
EF190453 - Homo sapiens adenosine deaminase acting on RNA 1-C (ADAR) mRNA, 5' UTR, alternatively spliced.
EF190448 - Homo sapiens truncated adenosine deaminase acting on RNA 1-A (ADAR) mRNA, complete cds, alternatively spliced.
EF190449 - Homo sapiens adenosine deaminase acting on RNA 1-A (ADAR) mRNA, partial cds, alternatively spliced.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_antisensePathway - RNA polymerase III transcription

Reactome (by CSHL, EBI, and GO)

Protein P55265 (Reactome details) participates in the following event(s):

R-HSA-111237 Formation of ADAR1 homodimer
R-HSA-75090 Binding of ADAR1 homodimer to dsRNA duplex
R-HSA-77614 Deamination at C6 position of adenosine in Editosome (ADAR1)
R-HSA-77042 Formation of editosomes by ADAR proteins
R-HSA-909733 Interferon alpha/beta signaling
R-HSA-75064 mRNA Editing: A to I Conversion
R-HSA-913531 Interferon Signaling
R-HSA-75102 C6 deamination of adenosine
R-HSA-75072 mRNA Editing
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-8953854 Metabolism of RNA
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ADAR1, B1AQQ9, B1AQR0, D3DV76, DSRAD, DSRAD_HUMAN, ENST00000368474.1, ENST00000368474.2, ENST00000368474.3, ENST00000368474.4, ENST00000368474.5, ENST00000368474.6, ENST00000368474.7, ENST00000368474.8, G1P1, IFI4, NM_001111, O15223, O43859, O43860, P55265, Q9BYM3, Q9BYM4, uc318gum.1, uc318gum.2
UCSC ID: ENST00000368474.9_11
RefSeq Accession: NM_001111.5
Protein: P55265 (aka DSRAD_HUMAN or DSRA_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ADAR:
ags (Aicardi-Goutieres Syndrome)
dystonia-ov (Hereditary Dystonia Overview)
hsp (Hereditary Spastic Paraplegia Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.