YRDC yrdC N6-threonylcarbamoyltransferase domain containing [Homo sapiens (human)] - Gene

Summary

Official Symbol: YRDCprovided by HGNC
Official Full Name: yrdC N6-threonylcarbamoyltransferase domain containingprovided by HGNC
Primary source: HGNC:HGNC:28905
See related: Ensembl:ENSG00000196449 MIM:612276; AllianceGenome:HGNC:28905
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: IRIP; SUA5; DRIP3; GAMOS10
Summary: Enables L-threonylcarbamoyladenylate synthase. Involved in tRNA threonylcarbamoyladenosine modification. Acts upstream of or within negative regulation of transport. Is active in mitochondrion. Implicated in Galloway-Mowat syndrome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 17.4), testis (RPKM 11.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (37802945..37808208, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (37669833..37675096, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (38268617..38273880, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

RNA Structural Dynamics Modulate EGFR-TKI Resistance Through Controlling YRDC Translation in NSCLC Cells.
Title: RNA Structural Dynamics Modulate EGFR-TKI Resistance Through Controlling YRDC Translation in NSCLC Cells.
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Title: Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Mutations in YRDC cause an extremely severe form of Galloway-Mowat syndrome (GAMOS), an autosomal recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly.
Title: Defects in t(6)A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
YrdC promoted the progression of HCC.
Title: Modulation of YrdC promotes hepatocellular carcinoma progression via MEK/ERK signaling pathway.
hIRIP expression can regulate cargo assembly and function of efflux transporters, including P-glycoprotein, which mediates one of the most common mechanisms of the multidrug resistance
Title: Ischemia-reperfusion-inducible protein modulates cell sensitivity to anticancer drugs by regulating activity of efflux transporter.
a novel cDNA that encodes a putative human protein with yrdC domain
Title: Isolation and identification of a novel cDNA that encodes human yrdC protein.

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

Associated conditions

Description	Tests
Galloway-Mowat syndrome 10 MedGen: C5562020 OMIM: 619609 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

G20571 (e-PCR)
- UniSTS:42040

A005X20 (e-PCR)
- UniSTS:42041

G30948 (e-PCR)
- UniSTS:81755

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-threonylcarbamoyladenylate synthase	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded RNA binding	IEA Inferred from Electronic Annotation more info
enables nucleotidyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of translational fidelity	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA threonylcarbamoyladenosine modification	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: threonylcarbamoyl-AMP synthase

Names: dopamine receptor interacting protein 3; hIRIP; ischemia/reperfusion inducible protein; ischemia/reperfusion-inducible protein homolog; yrdC N(6)-threonylcarbamoyltransferase domain containing; yrdC domain containing; yrdC domain-containing protein, mitochondrial

NP_078916.3

EC 2.7.7.87

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.