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
 

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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           more ... click here to view the complete list

+  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.