ADAD1 adenosine deaminase domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAD1provided by HGNC
Official Full Name: adenosine deaminase domain containing 1provided by HGNC
Primary source: HGNC:HGNC:30713
See related: Ensembl:ENSG00000164113 MIM:614130
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Tenr
Expression: Restricted expression toward testis (RPKM 52.2) See more
Orthologs: mouse all

Genomic context

Location:: 4q27

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	4	NC_000004.12 (122378971..122429815)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (123300121..123350957)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

ADAD1_rs17388568 AA was associated with a lower risk of having joints with Limitation of motion in patients with Juvenile Idiopathic Arthritis.
Title: Non-HLA gene polymorphisms in juvenile idiopathic arthritis: associations with disease outcome.
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.
Title: Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance.
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
Title: Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Multiple sclerosis association study with the TENR-IL2-IL21 region in a Spanish population.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide searching of rare genetic variants in WTCCC data.
Genetic variation in a linkage disequilibrium block encompassing the KIAA1109-TENR-IL2-IL21 genes predisposes to celiac disease.
Title: A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Newly identified genetic risk variants for celiac disease related to the immune response. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Homology

Homologs of the ADAD1 gene: The ADAD1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 272 organisms have orthologs with human gene ADAD1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
double-stranded RNA adenosine deaminase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
double-stranded RNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
tRNA-specific adenosine deaminase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
RNA processing	IBA Inferred from Biological aspect of Ancestor more info	PubMed
adenosine to inosine editing	IBA Inferred from Biological aspect of Ancestor more info	PubMed
multicellular organism development	IEA Inferred from Electronic Annotation more info
spermatid development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleolus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: adenosine deaminase domain-containing protein 1

Names: adenosine deaminase domain containing 1 (testis-specific); testis nuclear RNA-binding protein; testis tissue sperm-binding protein Li 92mP

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001159285.2 → NP_001152757.1 adenosine deaminase domain-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_001152757.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.

Source sequence(s)

BC040229

Consensus CDS

CCDS54800.1

UniProtKB/Swiss-Prot

Q96M93

UniProtKB/TrEMBL

A0A140VKH5

Related

ENSP00000373376.2, ENST00000388724.6

Conserved Domains (2) summary

smart00358
Location:97 → 162

DSRM; Double-stranded RNA binding motif

pfam02137
Location:249 → 557

A_deamin; Adenosine-deaminase (editase) domain
NM_001159295.2 → NP_001152767.1 adenosine deaminase domain-containing protein 1 isoform 3

See identical proteins and their annotated locations for NP_001152767.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AK057303, AK093297

Consensus CDS

CCDS54801.1

UniProtKB/Swiss-Prot

Q96M93

Related

ENSP00000373377.2, ENST00000388725.2

Conserved Domains (2) summary

smart00358
Location:79 → 144

DSRM; Double-stranded RNA binding motif

pfam02137
Location:231 → 550

A_deamin; Adenosine-deaminase (editase) domain
NM_139243.4 → NP_640336.1 adenosine deaminase domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_640336.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK057303, DB058857

Consensus CDS

CCDS34058.1

UniProtKB/Swiss-Prot

Q96M93

Related

ENSP00000296513.2, ENST00000296513.7

Conserved Domains (2) summary

smart00358
Location:97 → 162

DSRM; Double-stranded RNA binding motif

pfam02137
Location:249 → 568

A_deamin; Adenosine-deaminase (editase) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p13 Primary Assembly

Range

122378971..122429815

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005262743.3 → XP_005262800.1 adenosine deaminase domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_005262800.1

UniProtKB/Swiss-Prot

Q96M93

Conserved Domains (2) summary

smart00358
Location:97 → 162

DSRM; Double-stranded RNA binding motif

pfam02137
Location:249 → 568

A_deamin; Adenosine-deaminase (editase) domain
XM_024453890.1 → XP_024309658.1 adenosine deaminase domain-containing protein 1 isoform X2

Conserved Domains (2) summary

smart00358
Location:97 → 162

DSRM; Double-stranded RNA binding motif

pfam02137
Location:249 → 557

A_deamin; Adenosine-deaminase (editase) domain
XM_024453888.1 → XP_024309656.1 adenosine deaminase domain-containing protein 1 isoform X1

Conserved Domains (2) summary

smart00358
Location:97 → 162

DSRM; Double-stranded RNA binding motif

pfam02137
Location:249 → 568

A_deamin; Adenosine-deaminase (editase) domain
XM_024453889.1 → XP_024309657.1 adenosine deaminase domain-containing protein 1 isoform X2

Conserved Domains (2) summary

smart00358
Location:97 → 162

DSRM; Double-stranded RNA binding motif

pfam02137
Location:249 → 557

A_deamin; Adenosine-deaminase (editase) domain
XM_005262741.2 → XP_005262798.1 adenosine deaminase domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_005262798.1

UniProtKB/Swiss-Prot

Q96M93

Conserved Domains (2) summary

smart00358
Location:97 → 162

DSRM; Double-stranded RNA binding motif

pfam02137
Location:249 → 568

A_deamin; Adenosine-deaminase (editase) domain
XM_005262744.3 → XP_005262801.1 adenosine deaminase domain-containing protein 1 isoform X2

See identical proteins and their annotated locations for XP_005262801.1

UniProtKB/Swiss-Prot

Q96M93

UniProtKB/TrEMBL

A0A140VKH5

Conserved Domains (2) summary

smart00358
Location:97 → 162

DSRM; Double-stranded RNA binding motif

pfam02137
Location:249 → 557

A_deamin; Adenosine-deaminase (editase) domain
XM_005262745.3 → XP_005262802.1 adenosine deaminase domain-containing protein 1 isoform X3

Conserved Domains (2) summary

smart00358
Location:97 → 162

DSRM; Double-stranded RNA binding motif

pfam02137
Location:226 → 545

A_deamin; Adenosine-deaminase (editase) domain
XM_011531603.2 → XP_011529905.1 adenosine deaminase domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_011529905.1

UniProtKB/Swiss-Prot

Q96M93

Conserved Domains (2) summary

smart00358
Location:97 → 162

DSRM; Double-stranded RNA binding motif

pfam02137
Location:249 → 568

A_deamin; Adenosine-deaminase (editase) domain