AARSD1 alanyl-tRNA synthetase domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AARSD1provided by HGNC
Official Full Name: alanyl-tRNA synthetase domain containing 1provided by HGNC
Primary source: HGNC:HGNC:28417
See related: Ensembl:ENSG00000266967 MIM:613212; AllianceGenome:HGNC:28417
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: AlaXp
Summary: Predicted to enable Ser-tRNA(Ala) hydrolase activity. Predicted to be involved in regulation of translational fidelity. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis (RPKM 38.9), brain (RPKM 14.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.31

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42950526..42964454, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43807669..43821595, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (41102543..41116471, complement)

Chromosome 17 - NC_000017.11 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 Functions

What's a GeneRIF?

Aarsd1 inhibits the activity of a paradigmatic Hsp90 client protein.
Title: A Remodeled Hsp90 Molecular Chaperone Ensemble with the Novel Cochaperone Aarsd1 Is Required for Muscle Differentiation.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	AARSD1 mRNA is selectively retained in HIV-1 Nef-expressing cellular exosomes, and three miRNAs (miR-16, miR-30c, and miR-30e*) which target AARSD1 mRNA are selectively secreted in exosomes from these cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1142 (e-PCR)
- UniSTS:148854

SHGC-34202 (e-PCR)
- UniSTS:45498

RH47203 (e-PCR)
- UniSTS:13032

RH99229 (e-PCR)
- UniSTS:92668

Readthrough PTGES3L-AARSD1

Readthrough gene: PTGES3L-AARSD1, Included gene: PTGES3L

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables Ser-tRNA(Ala) hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alanine-tRNA ligase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in alanyl-tRNA aminoacylation	IEA Inferred from Electronic Annotation more info
involved_in aminoacyl-tRNA metabolism involved in translational fidelity	IEA Inferred from Electronic Annotation more info
involved_in biological_process	ND No biological Data available more info
involved_in regulation of translational fidelity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: alanyl-tRNA editing protein Aarsd1

Names: alanyl-tRNA synthetase domain-containing protein 1

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_001261434.2 → NP_001248363.1 alanyl-tRNA editing protein Aarsd1

See identical proteins and their annotated locations for NP_001248363.1

Status: VALIDATED

Source sequence(s)

AC055866, AL515977, AW296090, BP368900

Consensus CDS

CCDS58552.1

UniProtKB/Swiss-Prot

B4DI73, Q9BTE6

UniProtKB/TrEMBL

C9J5N1

Related

ENSP00000400870.1, ENST00000427569.7

Conserved Domains (2) summary

COG2872
Location:8 → 248

AlaX; Ser-tRNA(Ala) deacylase AlaX (editing enzyme) [Translation, ribosomal structure and biogenesis]

cl08469
Location:40 → 236

tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain