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    MMS19 MMS19 homolog, cytosolic iron-sulfur assembly component [ Homo sapiens (human) ]

    Gene ID: 64210, updated on 3-Dec-2024

    Summary

    Official Symbol
    MMS19provided by HGNC
    Official Full Name
    MMS19 homolog, cytosolic iron-sulfur assembly componentprovided by HGNC
    Primary source
    HGNC:HGNC:13824
    See related
    Ensembl:ENSG00000155229 MIM:614777; AllianceGenome:HGNC:13824
    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
    CIAO4; MET18; MMS19L; hMMS19
    Summary
    Enables nuclear estrogen receptor binding activity and transcription coactivator activity. Involved in protein maturation by iron-sulfur cluster transfer. Located in cytosol; nucleoplasm; and spindle. Part of MMXD complex and cytosolic [4Fe-4S] assembly targeting complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 18.2), skin (RPKM 14.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MMS19 in Genome Data Viewer
    Location:
    10q24.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (97458324..97498794, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (98338507..98378987, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99218081..99258551, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99204892-99205472 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99205473-99206052 Neighboring gene exosome component 1 Neighboring gene zinc finger DHHC-type palmitoyltransferase 16 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99257304-99257834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2680 Neighboring gene ubiquitin domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99277050-99277878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99301395-99302007 Neighboring gene uncharacterized LOC124902488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99302008-99302619 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99311139-99311639 Neighboring gene NANOG hESC enhancer GRCh37_chr10:99313431-99313932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2682 Neighboring gene Sharpr-MPRA regulatory region 14301 Neighboring gene ankyrin repeat domain 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ34167, FLJ95146, MGC99604

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nuclear estrogen receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables signaling receptor complex adaptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables transcription coactivator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MMXD complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of MMXD complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    part_of cytosolic [4Fe-4S] assembly targeting complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of cytosolic [4Fe-4S] assembly targeting complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription factor TFIIH holo complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    MMS19 nucleotide excision repair protein homolog
    Names
    MET18 homolog
    MMS19 cytosolic iron-sulfur assembly component
    MMS19 nucleotide excision repair homolog
    MMS19-like (MET18 homolog, S. cerevisiae)
    MMS19-like protein
    homolog of yeast MMS19

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001289403.2NP_001276332.1  MMS19 nucleotide excision repair protein homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. This results in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AK304287, BC009396, BC143285, DC382327, DC410036
      Consensus CDS
      CCDS73177.1
      UniProtKB/Swiss-Prot
      Q96T76
      Related
      ENSP00000348097.6, ENST00000355839.10
      Conserved Domains (2) summary
      pfam12460
      Location:495919
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:53268
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II
    2. NM_001289404.2NP_001276333.1  MMS19 nucleotide excision repair protein homolog isoform 3

      See identical proteins and their annotated locations for NP_001276333.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream start codon, compared to variant 1. This results in an isoform (3) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC009396, BC033101, DC382327, DC410036
      UniProtKB/Swiss-Prot
      Q96T76
      Conserved Domains (2) summary
      pfam12460
      Location:379803
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:1153
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II
    3. NM_001289405.2NP_001276334.1  MMS19 nucleotide excision repair protein homolog isoform 1

      See identical proteins and their annotated locations for NP_001276334.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1 and 4 encode the same protein (isoform 1).
      Source sequence(s)
      AF319947, AL355490, AL359388, BC009396
      Consensus CDS
      CCDS7464.1
      UniProtKB/Swiss-Prot
      B0QZ75, B3KPE5, B4DQX2, B4E2I3, D3DR55, F8W9Y2, Q17RZ8, Q5T455, Q66K82, Q7L4W8, Q969Z1, Q96DF1, Q96MR1, Q96RK5, Q96SK1, Q96T76, Q9BUE2, Q9BYS9
      Related
      ENSP00000359818.1, ENST00000370782.6
      Conserved Domains (2) summary
      pfam12460
      Location:538962
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:53311
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II
    4. NM_001330128.2NP_001317057.1  MMS19 nucleotide excision repair protein homolog isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two alternate, in-frame exons in the central coding region compared to variant 1. It encodes isoform 5, which is shorter than isoform 1.
      Source sequence(s)
      AK027710, BC009396, CN260136, DA482032, DA509912, DA855951, DC410036
      Consensus CDS
      CCDS81493.1
      UniProtKB/Swiss-Prot
      Q96T76
      Related
      ENSP00000320059.10, ENST00000327238.14
    5. NM_001351356.2NP_001338285.1  MMS19 nucleotide excision repair protein homolog isoform 6

      Status: VALIDATED

      Source sequence(s)
      AK314374, BC009396, CO248418, DC323254, DC382327
      Conserved Domains (2) summary
      pfam12460
      Location:5771001
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:53350
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II
    6. NM_001351357.2NP_001338286.1  MMS19 nucleotide excision repair protein homolog isoform 7

      Status: VALIDATED

      Source sequence(s)
      AK314374, BC009396, BE382510, CO248418, DB145487, DC382327
      Conserved Domains (2) summary
      pfam12460
      Location:380804
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:1153
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II
    7. NM_001351358.2NP_001338287.1  MMS19 nucleotide excision repair protein homolog isoform 8

      Status: VALIDATED

      Source sequence(s)
      AF319947, BC009396, DA413922, DB199128, DC382327
      UniProtKB/TrEMBL
      H0Y746
      Conserved Domains (1) summary
      pfam12460
      Location:174598
      MMS19_C; RNAPII transcription regulator C-terminal
    8. NM_001351359.2NP_001338288.1  MMS19 nucleotide excision repair protein homolog isoform 8

      Status: VALIDATED

      Source sequence(s)
      AF319947, BC009396, DA226319, DA413922, DB199128, DC382327
      UniProtKB/TrEMBL
      H0Y746
      Conserved Domains (1) summary
      pfam12460
      Location:174598
      MMS19_C; RNAPII transcription regulator C-terminal
    9. NM_022362.5NP_071757.4  MMS19 nucleotide excision repair protein homolog isoform 1

      See identical proteins and their annotated locations for NP_071757.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 4 encode the same protein.
      Source sequence(s)
      AK314374, BC009396, DC382327
      Consensus CDS
      CCDS7464.1
      UniProtKB/Swiss-Prot
      B0QZ75, B3KPE5, B4DQX2, B4E2I3, D3DR55, F8W9Y2, Q17RZ8, Q5T455, Q66K82, Q7L4W8, Q969Z1, Q96DF1, Q96MR1, Q96RK5, Q96SK1, Q96T76, Q9BUE2, Q9BYS9
      Related
      ENSP00000412698.2, ENST00000438925.7
      Conserved Domains (2) summary
      pfam12460
      Location:538962
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:53311
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      97458324..97498794 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425624.1XP_047281580.1  MMS19 nucleotide excision repair protein homolog isoform X10

    2. XM_047425623.1XP_047281579.1  MMS19 nucleotide excision repair protein homolog isoform X9

    3. XM_047425622.1XP_047281578.1  MMS19 nucleotide excision repair protein homolog isoform X8

    4. XM_017016518.3XP_016872007.1  MMS19 nucleotide excision repair protein homolog isoform X5

    5. XM_017016521.3XP_016872010.1  MMS19 nucleotide excision repair protein homolog isoform X7

    6. XM_006717944.5XP_006718007.2  MMS19 nucleotide excision repair protein homolog isoform X2

      Conserved Domains (2) summary
      pfam12460
      Location:537961
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:53311
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II
    7. XM_047425621.1XP_047281577.1  MMS19 nucleotide excision repair protein homolog isoform X4

    8. XM_017016517.3XP_016872006.1  MMS19 nucleotide excision repair protein homolog isoform X3

    9. XM_017016519.3XP_016872008.1  MMS19 nucleotide excision repair protein homolog isoform X6

    10. XM_017016516.3XP_016872005.1  MMS19 nucleotide excision repair protein homolog isoform X1

    11. XM_047425627.1XP_047281583.1  MMS19 nucleotide excision repair protein homolog isoform X13

      UniProtKB/TrEMBL
      H0Y746
    12. XM_011540063.4XP_011538365.1  MMS19 nucleotide excision repair protein homolog isoform X14

      UniProtKB/TrEMBL
      H0Y746
      Related
      ENSP00000410008.1, ENST00000434538.5
      Conserved Domains (1) summary
      pfam12460
      Location:123547
      MMS19_C; RNAPII transcription regulator C-terminal
    13. XM_047425626.1XP_047281582.1  MMS19 nucleotide excision repair protein homolog isoform X12

    14. XM_047425625.1XP_047281581.1  MMS19 nucleotide excision repair protein homolog isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      98338507..98378987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366546.1XP_054222521.1  MMS19 nucleotide excision repair protein homolog isoform X10

    2. XM_054366545.1XP_054222520.1  MMS19 nucleotide excision repair protein homolog isoform X9

    3. XM_054366544.1XP_054222519.1  MMS19 nucleotide excision repair protein homolog isoform X8

    4. XM_054366541.1XP_054222516.1  MMS19 nucleotide excision repair protein homolog isoform X5

    5. XM_054366543.1XP_054222518.1  MMS19 nucleotide excision repair protein homolog isoform X7

    6. XM_054366538.1XP_054222513.1  MMS19 nucleotide excision repair protein homolog isoform X2

    7. XM_054366540.1XP_054222515.1  MMS19 nucleotide excision repair protein homolog isoform X4

    8. XM_054366539.1XP_054222514.1  MMS19 nucleotide excision repair protein homolog isoform X3

    9. XM_054366542.1XP_054222517.1  MMS19 nucleotide excision repair protein homolog isoform X6

    10. XM_054366537.1XP_054222512.1  MMS19 nucleotide excision repair protein homolog isoform X1

    11. XM_054366547.1XP_054222522.1  MMS19 nucleotide excision repair protein homolog isoform X13

      UniProtKB/TrEMBL
      H0Y746
    12. XM_054366548.1XP_054222523.1  MMS19 nucleotide excision repair protein homolog isoform X14

      UniProtKB/TrEMBL
      H0Y746

    RNA

    1. XR_008488247.1 RNA Sequence

    2. XR_008488246.1 RNA Sequence