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

Gene ID: 64210, updated on 8-Jul-2018
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; Vega:OTTHUMG00000018857
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
Expression
Ubiquitous expression in testis (RPKM 18.2), skin (RPKM 14.7) and 25 other tissues See more
Orthologs
See MMS19 in Genome Data Viewer
Location:
10q24.1
Exon count:
33
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (97458324..97498794, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99218081..99258521, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene exosome component 1 Neighboring gene zinc finger DHHC-type containing 16 Neighboring gene ubiquitin domain containing 1 Neighboring gene ankyrin repeat domain 2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cytosolic iron-sulfur cluster assembly, organism-specific biosystem (from REACTOME)
    Cytosolic iron-sulfur cluster assembly, organism-specific biosystemIron-sulfur clusters containing 4 atoms of iron and 4 atoms of sulfur (4Fe-4S clusters) are assembled in the cytosol on a heterotetrameric scaffold composed of NUBP2 and NUBP1 subunits (reviewed in L...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ34167, FLJ95146, MGC99604

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
estrogen receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging NAS
Non-traceable Author Statement
more info
PubMed 
receptor signaling complex scaffold activity NAS
Non-traceable Author Statement
more info
PubMed 
transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
DNA metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
iron-sulfur cluster assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair NAS
Non-traceable Author Statement
more info
PubMed 
nucleotide-excision repair TAS
Traceable Author Statement
more info
PubMed 
phosphorelay signal transduction system NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein maturation by iron-sulfur cluster transfer IDA
Inferred from Direct Assay
more info
PubMed 
response to hormone NAS
Non-traceable Author Statement
more info
PubMed 
transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
CIA complex IDA
Inferred from Direct Assay
more info
PubMed 
MMXD complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
holo TFIIH complex NAS
Non-traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
spindle IDA
Inferred from Direct Assay
more info
PubMed 
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

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_001289403.1NP_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, AL359388, 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_001289404.1NP_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)
    AL359388, 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_001289405.1NP_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
    Q96T76
    Related
    ENSP00000359818.1, OTTHUMP00000020211, ENST00000370782.6, OTTHUMT00000049707
    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_001330128.1NP_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, AL359388, BC009396, CN260136, DA482032, DA509912, DA855951, DC410036
    Consensus CDS
    CCDS81493.1
    UniProtKB/Swiss-Prot
    Q96T76
    Related
    ENSP00000320059.10, ENST00000327238.14
  5. NM_001351356.1NP_001338285.1  MMS19 nucleotide excision repair protein homolog isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK314374, BC009396, CO248418, DC323254, DC382327, DC403135, DC410036
    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_001351357.1NP_001338286.1  MMS19 nucleotide excision repair protein homolog isoform 7

    Status: VALIDATED

    Source sequence(s)
    AK314374, BC009396, BE382510, CO248418, DB145487, DC382327, DC403135, DC410036
    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_001351358.1NP_001338287.1  MMS19 nucleotide excision repair protein homolog isoform 8

    Status: VALIDATED

    Source sequence(s)
    AF319947, BC009396, DA413922, DB199128, DC382327, DC403135, DC410036
    Conserved Domains (1) summary
    pfam12460
    Location:174598
    MMS19_C; RNAPII transcription regulator C-terminal
  8. NM_001351359.1NP_001338288.1  MMS19 nucleotide excision repair protein homolog isoform 8

    Status: VALIDATED

    Source sequence(s)
    AF319947, BC009396, DA226319, DA413922, DB199128, DC382327, DC403135, DC410036
    Conserved Domains (1) summary
    pfam12460
    Location:174598
    MMS19_C; RNAPII transcription regulator C-terminal
  9. NM_022362.4NP_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, DC403135, DC410036
    Consensus CDS
    CCDS7464.1
    UniProtKB/Swiss-Prot
    Q96T76
    Related
    ENSP00000412698.2, OTTHUMP00000020210, ENST00000438925.6, OTTHUMT00000049706
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011540062.1XP_011538364.1  MMS19 nucleotide excision repair protein homolog isoform X9

    See identical proteins and their annotated locations for XP_011538364.1

    Conserved Domains (2) summary
    pfam12460
    Location:337761
    MMS19_C; RNAPII transcription regulator C-terminal
    pfam14500
    Location:1110
    MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II
  2. XM_017016522.1XP_016872011.1  MMS19 nucleotide excision repair protein homolog isoform X7

    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
  3. XM_005270041.1XP_005270098.1  MMS19 nucleotide excision repair protein homolog isoform X9

    See identical proteins and their annotated locations for XP_005270098.1

    Conserved Domains (2) summary
    pfam12460
    Location:337761
    MMS19_C; RNAPII transcription regulator C-terminal
    pfam14500
    Location:1110
    MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II
  4. XM_017016524.2XP_016872013.1  MMS19 nucleotide excision repair protein homolog isoform X8

    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
  5. XM_005270035.3XP_005270092.1  MMS19 nucleotide excision repair protein homolog isoform X7

    See identical proteins and their annotated locations for XP_005270092.1

    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
  6. XM_017016527.2XP_016872016.1  MMS19 nucleotide excision repair protein homolog isoform X10

    Conserved Domains (1) summary
    pfam12460
    Location:174598
    MMS19_C; RNAPII transcription regulator C-terminal
  7. XM_017016535.2XP_016872024.1  MMS19 nucleotide excision repair protein homolog isoform X13

  8. XM_017016534.2XP_016872023.1  MMS19 nucleotide excision repair protein homolog isoform X13

  9. XM_011540063.3XP_011538365.1  MMS19 nucleotide excision repair protein homolog isoform X12

    Conserved Domains (1) summary
    pfam12460
    Location:123547
    MMS19_C; RNAPII transcription regulator C-terminal
  10. XM_006717945.3XP_006718008.1  MMS19 nucleotide excision repair protein homolog isoform X10

    Conserved Domains (1) summary
    pfam12460
    Location:174598
    MMS19_C; RNAPII transcription regulator C-terminal
  11. XM_017016531.1XP_016872020.1  MMS19 nucleotide excision repair protein homolog isoform X10

    Conserved Domains (1) summary
    pfam12460
    Location:174598
    MMS19_C; RNAPII transcription regulator C-terminal
  12. XM_017016518.2XP_016872007.1  MMS19 nucleotide excision repair protein homolog isoform X4

  13. XM_017016521.2XP_016872010.1  MMS19 nucleotide excision repair protein homolog isoform X6

  14. XM_006717944.4XP_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
  15. XM_024448123.1XP_024303891.1  MMS19 nucleotide excision repair protein homolog isoform X10

    Conserved Domains (1) summary
    pfam12460
    Location:174598
    MMS19_C; RNAPII transcription regulator C-terminal
  16. XM_017016517.2XP_016872006.1  MMS19 nucleotide excision repair protein homolog isoform X3

  17. XM_017016519.2XP_016872008.1  MMS19 nucleotide excision repair protein homolog isoform X5

  18. XM_017016516.2XP_016872005.1  MMS19 nucleotide excision repair protein homolog isoform X1

  19. XM_024448125.1XP_024303893.1  MMS19 nucleotide excision repair protein homolog isoform X10

    Related
    ENSP00000410008.1, ENST00000434538.5
    Conserved Domains (1) summary
    pfam12460
    Location:174598
    MMS19_C; RNAPII transcription regulator C-terminal
  20. XM_017016529.2XP_016872018.1  MMS19 nucleotide excision repair protein homolog isoform X10

    Conserved Domains (1) summary
    pfam12460
    Location:174598
    MMS19_C; RNAPII transcription regulator C-terminal
  21. XM_024448126.1XP_024303894.1  MMS19 nucleotide excision repair protein homolog isoform X11

    Conserved Domains (1) summary
    pfam12460
    Location:173597
    MMS19_C; RNAPII transcription regulator C-terminal
  22. XM_024448124.1XP_024303892.1  MMS19 nucleotide excision repair protein homolog isoform X10

    Conserved Domains (1) summary
    pfam12460
    Location:174598
    MMS19_C; RNAPII transcription regulator C-terminal
  23. XM_017016533.2XP_016872022.1  MMS19 nucleotide excision repair protein homolog isoform X11

    Conserved Domains (1) summary
    pfam12460
    Location:173597
    MMS19_C; RNAPII transcription regulator C-terminal

RNA

  1. XR_002957006.1 RNA Sequence

    Related
    ENST00000415383.5
  2. XR_001747180.2 RNA Sequence

  3. XR_001747179.2 RNA Sequence

  4. XR_001747178.2 RNA Sequence

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