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

Also Known as CIAO4; MET18; MMS19L; hMMS19

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64210

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	References	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	References	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	References	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

MMS19 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MMS19	Q96T76	CIAO3	Homo sapiens	Q9H6Q4	Anti Tag CoIP	23585563
Intra	MMS19	Q96T76	RTEL1	Homo sapiens	Q9NZ71	Anti Tag CoIP	28178521
Intra	MMS19	Q96T76	BRIP1	Homo sapiens	Q9BX63	Anti Tag CoIP	23585563
Intra	MMS19	Q96T76	ERCC2	Homo sapiens	P18074	Anti Tag CoIP	23585563
Intra	MMS19	Q96T76	ERCC2	Homo sapiens	P18074	Anti Tag CoIP	28178521
Intra	MMS19	Q96T76	CIAO1	Homo sapiens	O76071	Anti Tag CoIP	28514442
Intra	MMS19	Q96T76	CIAO1	Homo sapiens	O76071	Anti Tag CoIP	33961781
Intra	MMS19	Q96T76	CIAO1	Homo sapiens	O76071	Anti Tag CoIP	28178521
Intra	MMS19	Q96T76	CIAO1	Homo sapiens	O76071	Y2H	21516116
Intra	MMS19	Q96T76	CIAO1	Homo sapiens	O76071	Anti Tag CoIP	23585563
Intra	MMS19	Q96T76	CIAO2B	Homo sapiens	Q9Y3D0	Anti Tag CoIP	33961781
Intra	MMS19	Q96T76	CIAO2B	Homo sapiens	Q9Y3D0	Anti Tag CoIP	28178521
Intra	MMS19	Q96T76	CIAO2B	Homo sapiens	Q9Y3D0	Anti Tag CoIP	23585563
Intra	MMS19	Q96T76	CIAO2B	Homo sapiens	Q9Y3D0	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08562	MMS19 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22646	Mms19 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29160	Mms19 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MMS19	NCBI