MDN1 midasin AAA ATPase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MDN1provided by HGNC
Official Full Name: midasin AAA ATPase 1provided by HGNC
Primary source: HGNC:HGNC:18302
See related: Ensembl:ENSG00000112159 MIM:618200; AllianceGenome:HGNC:18302
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: Rea1
Summary: Predicted to enable ATP binding activity and ATP hydrolysis activity. Involved in ribosomal large subunit assembly. Located in cytosol; intermediate filament cytoskeleton; and nuclear lumen. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in ovary (RPKM 5.6), testis (RPKM 4.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q15

Exon count:: 102

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (89642498..89819794, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (90851868..91029153, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (90352217..90529513, complement)

Chromosome 6 - NC_000006.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the crystal structure of the UBL domain of the WDR12 homologue from S. cerevisiae at 1.7 A resolution is reported and demonstrated that human midasin binds to WDR12 as well as Nle1 through their respective UBL domains.
Title: The Crystal Structure of the Ubiquitin-like Domain of Ribosome Assembly Factor Ytm1 and Characterization of Its Interaction with the AAA-ATPase Midasin.

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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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Replication interactions

Interaction	Pubs
Knockdown of MDN1, midasin homolog by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl 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

SHGC-132631 (e-PCR)
- UniSTS:185368

PMC109273P2 (e-PCR)
- UniSTS:270160

RH66597 (e-PCR)
- UniSTS:78168

RH46864 (e-PCR)
- UniSTS:54631

SHGC-36736 (e-PCR)
- UniSTS:2437

MDN1__7388 (e-PCR)
- UniSTS:466309

A006O38 (e-PCR)
- UniSTS:17803

RH35920 (e-PCR)
- UniSTS:71565

RH99130 (e-PCR)
- UniSTS:87273

Clone Names

FLJ23395, FLJ25587, FLJ42031, FLJ43191, KIAA0301, DKFZp686H16106

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ribosomal large subunit assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal large subunit assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in ribosomal large subunit export from nucleus	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of preribosome, large subunit precursor	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: midasin

Names: MDN1, midasin homolog; MIDAS-containing protein; dynein-related AAA-ATPase MDN1

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.

Genomic

NG_034012.1 RefSeqGene

Range

5001..182297

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014611.3 → NP_055426.1 midasin

See identical proteins and their annotated locations for NP_055426.1

Status: VALIDATED

Source sequence(s)

AF503925, AK027048, AL096678, BC036888, BP360573

Consensus CDS

CCDS5024.1

UniProtKB/Swiss-Prot

O15019, Q5T794, Q9NU22

Related

ENSP00000358400.3, ENST00000369393.8

Conserved Domains (7) summary

cd00009
Location:659 → 780

AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...

smart00382
Location:1383 → 1540

AAA; ATPases associated with a variety of cellular activities

COG0714
Location:1736 → 1923

MoxR; MoxR-like ATPase [General function prediction only]

cd01460
Location:5323 → 5593

vWA_midasin; VWA_Midasin: Midasin is a member of the AAA ATPase family. The proteins of this family are unified by their common archetectural organization that is based upon a conserved ATPase domain. The AAA domain of midasin contains six tandem AAA protomers. The ...

pfam03247
Location:4912 → 5020

Prothymosin; Prothymosin/parathymosin family

pfam07728
Location:1385 → 1540

AAA_5; AAA domain (dynein-related subfamily)

cl21455
Location:1079 → 1215

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases