Human Gene MMS19 (ENST00000438925.7) from GENCODE V44
  Description: Homo sapiens MMS19 homolog, cytosolic iron-sulfur assembly component (MMS19), transcript variant 1, mRNA. (from RefSeq NM_022362)
Gencode Transcript: ENST00000438925.7
Gencode Gene: ENSG00000155229.21
Transcript (Including UTRs)
   Position: hg38 chr10:97,458,324-97,498,422 Size: 40,099 Total Exon Count: 31 Strand: -
Coding Region
   Position: hg38 chr10:97,458,692-97,498,384 Size: 39,693 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:97,458,324-97,498,422)mRNA (may differ from genome)Protein (1030 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MMS19_HUMAN
DESCRIPTION: RecName: Full=MMS19 nucleotide excision repair protein homolog; Short=hMMS19; AltName: Full=MET18 homolog; AltName: Full=MMS19-like protein;
FUNCTION: Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic integrity. In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision repair (NER) and RNA polymerase II (POL II) transcription. As part of the mitotic spindle-associated MMXD complex, plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD. Indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into some component of the TFIIH-machinery.
SUBUNIT: Component of the CIA complex. Component of the MMXD complex, composed of CIAO1, ERCC2, FAM96B, MMS19 and SLC25A5. Interacts with FAM96B; the interaction is direct. Interacts with ERCC2/XPD; the interaction is direct. Interacts with ERCC3/XPB and NCOA3/RAC3.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, spindle.
TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in testis.
SIMILARITY: Belongs to the MET18/MMS19 family.
SIMILARITY: Contains 7 HEAT repeats.
SEQUENCE CAUTION: Sequence=AAH80532.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB55315.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB71223.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAG51657.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAC29239.1; Type=Frameshift; Positions=373, 412;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mms19l/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.66 RPKM in Testis
Total median expression: 970.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.8038-0.047 Picture PostScript Text
3' UTR -105.60368-0.287 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR024687 - Tscrpt_MMS19_N

Pfam Domains:
PF12460 - RNAPII transcription regulator C-terminal

ModBase Predicted Comparative 3D Structure on Q96T76
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0030159 receptor signaling complex scaffold activity
GO:0030331 estrogen receptor binding
GO:0030674 protein binding, bridging

Biological Process:
GO:0000160 phosphorelay signal transduction system
GO:0006259 DNA metabolic process
GO:0006281 DNA repair
GO:0006289 nucleotide-excision repair
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006974 cellular response to DNA damage stimulus
GO:0007059 chromosome segregation
GO:0009725 response to hormone
GO:0016226 iron-sulfur cluster assembly
GO:0045893 positive regulation of transcription, DNA-templated
GO:0097428 protein maturation by iron-sulfur cluster transfer
GO:1905168 positive regulation of double-strand break repair via homologous recombination

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005675 holo TFIIH complex
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0071817 MMXD complex
GO:0097361 CIA complex


-  Descriptions from all associated GenBank mRNAs
  BC007298 - Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3349788), with apparent retained intron.
BC009396 - Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4135275), partial cds.
AF007151 - Homo sapiens clone 23967 unknown mRNA, partial cds.
AK025496 - Homo sapiens cDNA: FLJ21843 fis, clone HEP01856, highly similar to AF007151 Homo sapiens clone 23967 unknown mRNA.
BC002692 - Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3605877), partial cds.
BC006575 - Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3543044), partial cds.
BC033101 - Homo sapiens cDNA clone IMAGE:3508402, containing frame-shift errors.
BC080532 - Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae), mRNA (cDNA clone MGC:99604 IMAGE:4889876), complete cds.
AK225312 - Homo sapiens mRNA for MMS19-like protein variant, clone: HEP05008.
AF357881 - Homo sapiens transcriptional coactivator MMS19 (MMS19) mRNA, complete cds.
AF319947 - Homo sapiens MMS19 (MMS19) mRNA, complete cds.
AK091486 - Homo sapiens cDNA FLJ34167 fis, clone FCBBF3015119.
AX747016 - Sequence 541 from Patent EP1308459.
AK056244 - Homo sapiens cDNA FLJ31682 fis, clone NT2RI2005335, highly similar to MMS19-like protein.
AK056581 - Homo sapiens cDNA FLJ32019 fis, clone NTONG1000098.
AK027710 - Homo sapiens cDNA FLJ14804 fis, clone NT2RP4001638, weakly similar to DNA REPAIR/TRANSCRIPTION PROTEIN MET18/MMS19.
AJ306408 - Homo sapiens mRNA for MMS19 protein.
JD470401 - Sequence 451425 from Patent EP1572962.
JD088511 - Sequence 69535 from Patent EP1572962.
JD200749 - Sequence 181773 from Patent EP1572962.
JD523970 - Sequence 504994 from Patent EP1572962.
AK298995 - Homo sapiens cDNA FLJ55586 complete cds, highly similar to MMS19-like protein.
AK304287 - Homo sapiens cDNA FLJ54519 complete cds, highly similar to MMS19-like protein.
JD049065 - Sequence 30089 from Patent EP1572962.
JD259455 - Sequence 240479 from Patent EP1572962.
JD342713 - Sequence 323737 from Patent EP1572962.
BC143285 - Homo sapiens cDNA clone IMAGE:9051788, containing frame-shift errors.
BC117129 - Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae), mRNA (cDNA clone MGC:150738 IMAGE:40125680), complete cds.
JD503729 - Sequence 484753 from Patent EP1572962.
AK314374 - Homo sapiens cDNA, FLJ95146.
KJ903065 - Synthetic construct Homo sapiens clone ccsbBroadEn_12459 MMS19 gene, encodes complete protein.
AB590771 - Synthetic construct DNA, clone: pFN21AB0486, Homo sapiens MMS19 gene for MMS19 nucleotide excision repair homolog, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96T76 (Reactome details) participates in the following event(s):

R-HSA-2564830 Cytosolic iron-sulfur cluster assembly
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B0QZ75, B3KPE5, B4DQX2, B4E2I3, D3DR55, ENST00000438925.1, ENST00000438925.2, ENST00000438925.3, ENST00000438925.4, ENST00000438925.5, ENST00000438925.6, F8W9Y2, MMS19L, MMS19_HUMAN, NM_022362, Q17RZ8, Q5T455, Q66K82, Q7L4W8, Q969Z1, Q96DF1, Q96MR1, Q96RK5, Q96SK1, Q96T76, Q9BUE2, Q9BYS9, uc001kns.1, uc001kns.2, uc001kns.3, uc001kns.4, uc001kns.5, uc001kns.6
UCSC ID: ENST00000438925.7
RefSeq Accession: NM_022362
Protein: Q96T76 (aka MMS19_HUMAN)
CCDS: CCDS7464.1, CCDS73177.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.