MMS19 - MMS19 homolog, cytosolic iron-sulfur assembly component Gene

Homo sapiens

Also known as CIAO4; MET18; MMS19L; hMMS19

Gene ID: 64210 | Gene type: protein coding

About MMS19

Cytogenetic location: 10q24.1 Genomic coordinates (GRCh38): 10:97,458,324-97,498,794 (from NCBI)

This gene has 19 transcripts (splice variants) and 201 orthologues. Ubiquitous expression in testis (RPKM 18.2), skin (RPKM 14.7) and 25 other tissues.

Summary

Enables Estrogen Receptor binding activity and transcription coactivator activity. Involved in several processes, including iron-sulfur cluster assembly; positive regulation of nucleobase-containing compound metabolic process; and protein maturation by iron-sulfur cluster transfer. Located in cytosol; nucleoplasm; and spindle. Part of CIA complex and MMXD complex. [provided by Alliance of Genome Resources, Apr 2022]

MMS19 Products(9)

mRNA	Protein	Name
NM_001289403.2	NP_001276332.1	MMS19 nucleotide excision repair protein homolog isoform 2
NM_001289404.2	NP_001276333.1	MMS19 nucleotide excision repair protein homolog isoform 3
NM_001289405.2	NP_001276334.1	MMS19 nucleotide excision repair protein homolog isoform 1
NM_001330128.2	NP_001317057.1	MMS19 nucleotide excision repair protein homolog isoform 5
NM_001351356.2	NP_001338285.1	MMS19 nucleotide excision repair protein homolog isoform 6
NM_001351357.2	NP_001338286.1	MMS19 nucleotide excision repair protein homolog isoform 7
NM_001351358.2	NP_001338287.1	MMS19 nucleotide excision repair protein homolog isoform 8
NM_001351359.2	NP_001338288.1	MMS19 nucleotide excision repair protein homolog isoform 8
NM_022362.5	NP_071757.4	MMS19 nucleotide excision repair protein homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables nuclear estrogen receptor binding	IPI IPI: Inferred from physical interaction	11279242	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11279242	GOA
enables transcription coactivator activity	IMP IMP: Inferred from mutant phenotype	11279242	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein maturation by iron-sulfur cluster transfer	IDA IDA: Inferred from direct assay	29225034	GOA
involved in protein maturation by iron-sulfur cluster transfer	IMP IMP: Inferred from mutant phenotype	22678361	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of MMXD complex	IDA IDA: Inferred from direct assay	20797633	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	20797633	GOA
part of cytosolic [4Fe-4S] assembly targeting complex	IDA IDA: Inferred from direct assay	22678361	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20797633	GOA
located in spindle	IDA IDA: Inferred from direct assay	20797633	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MMS19 Protein Structure

MMS19_N

MMS19_C

0
200
400
600
800
1030 a.a.

Protein Preferred Names

Protein Names

MMS19 nucleotide excision repair protein homolog

MET18 homolog

Related Diseases

Diseases

Alias

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6

Mitochondrial Dna Deletion Syndrome With Progressive Myopathy	PEOA6
Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 6	Dna2-Related Mitochondrial Dna Deletion Syndrome
Mitochondrial Dna Deletion Syndrome With Limb-Girdle Weakness	Mtdna Deletion Syndrome With Limb-Girdle Weakness
Mtdna Deletion Syndrome With Progressive Myopathy	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 6
Progressive External Ophthalmoplegia, Autosomal Dominant 6	Autosomal Dominant Progressive External Ophthalmoplegia 6
Progressive External Ophthalmoplegia Autosomal Dominant 6	Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 6

Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Group D	Xpdc
Xeroderma Pigmentosum Iv	XPD
Xeroderma Pigmentosum Group D	Xeroderma Pigmentosum Viii
Xp Group D	Xp Group H
Xp4	Xp8
Xph	Xp, Group D
Xp4 Xeroderma Pigmentosum Viii, Formerly	Xp8, Formerly
Xp, Group H, Formerly	Xph, Formerly
Xeroderma Pigmentosum Complementation Group D	XP-D
Xp-D/Cs

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08562	MMS19 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MMS19	MGD	MGI:1919449
Rattus norvegicus	MMS19	RGD	RGD:727890
Canis familiaris	MMS19	VGNC	VGNC:43293
Bos taurus	MMS19	VGNC	VGNC:31534
Felis catus	MMS19	VGNC	VGNC:63541

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