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Q96T76

- MMS19_HUMAN

UniProt

Q96T76 - MMS19_HUMAN

Protein

MMS19 nucleotide excision repair protein homolog

Gene

MMS19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 2 (26 Jun 2007)
      Previous versions | rss
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    Functioni

    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.5 Publications

    GO - Molecular functioni

    1. estrogen receptor binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. protein binding, bridging Source: UniProtKB
    4. receptor signaling complex scaffold activity Source: UniProtKB
    5. transcription coactivator activity Source: UniProtKB

    GO - Biological processi

    1. cellular response to DNA damage stimulus Source: UniProtKB
    2. chromosome segregation Source: UniProtKB
    3. DNA metabolic process Source: UniProtKB
    4. DNA repair Source: UniProtKB
    5. iron-sulfur cluster assembly Source: UniProtKB
    6. nucleotide-excision repair Source: UniProtKB
    7. phosphorelay signal transduction system Source: UniProtKB
    8. positive regulation of transcription, DNA-templated Source: UniProtKB
    9. response to hormone Source: UniProtKB
    10. small molecule metabolic process Source: Reactome
    11. transcription, DNA-templated Source: UniProtKB

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Chromosome partition, DNA damage, DNA repair, Transcription, Transcription regulation

    Enzyme and pathway databases

    ReactomeiREACT_160176. Cytosolic iron-sulfur cluster assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    MMS19 nucleotide excision repair protein homolog
    Short name:
    hMMS19
    Alternative name(s):
    MET18 homolog
    MMS19-like protein
    Gene namesi
    Name:MMS19
    Synonyms:MMS19L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:13824. MMS19.

    Subcellular locationi

    GO - Cellular componenti

    1. CIA complex Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. holo TFIIH complex Source: UniProtKB
    4. membrane Source: UniProtKB
    5. MMXD complex Source: UniProtKB
    6. nucleus Source: UniProtKB
    7. spindle Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162395974.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 10301029MMS19 nucleotide excision repair protein homologPRO_0000096514Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei496 – 4961N6-acetyllysine1 Publication
    Modified residuei1027 – 10271Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ96T76.
    PaxDbiQ96T76.
    PRIDEiQ96T76.

    PTM databases

    PhosphoSiteiQ96T76.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed with higher expression in testis.2 Publications

    Gene expression databases

    ArrayExpressiQ96T76.
    BgeeiQ96T76.
    CleanExiHS_MMS19.
    GenevestigatoriQ96T76.

    Organism-specific databases

    HPAiHPA051936.
    HPA056299.

    Interactioni

    Subunit structurei

    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. Interacts with RTEL1; the interaction mediates the association of RTEL1 with the CIA complex.5 Publications

    Protein-protein interaction databases

    BioGridi122103. 182 interactions.
    IntActiQ96T76. 6 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96T76.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati43 – 8139HEAT 1Add
    BLAST
    Repeati253 – 29139HEAT 2Add
    BLAST
    Repeati387 – 42640HEAT 3Add
    BLAST
    Repeati866 – 90439HEAT 4Add
    BLAST
    Repeati908 – 94639HEAT 5Add
    BLAST
    Repeati949 – 98739HEAT 6Add
    BLAST
    Repeati990 – 102839HEAT 7Add
    BLAST

    Sequence similaritiesi

    Belongs to the MET18/MMS19 family.Curated
    Contains 7 HEAT repeats.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG320478.
    HOVERGENiHBG057358.
    InParanoidiQ96T76.
    KOiK15075.
    OMAiDHITSNV.
    PhylomeDBiQ96T76.
    TreeFamiTF314469.

    Family and domain databases

    Gene3Di1.25.10.10. 2 hits.
    InterProiIPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR024687. MMS19_C.
    [Graphical view]
    PfamiPF12460. MMS19_C. 1 hit.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 5 hits.

    Sequences (6)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96T76-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAAAAAVEAA APMGALWGLV HDFVVGQQEG PADQVAADVK SGNYTVLQVV     50
    EALGSSLENP EPRTRARAIQ LLSQVLLHCH TLLLEKEVVH LILFYENRLK 100
    DHHLVIPSVL QGLKALSLCV ALPPGLAVSV LKAIFQEVHV QSLPQVDRHT 150
    VYNIITNFMR TREEELKSLG ADFTFGFIQV MDGEKDPRNL LVAFRIVHDL 200
    ISRDYSLGPF VEELFEVTSC YFPIDFTPPP NDPHGIQRED LILSLRAVLA 250
    STPRFAEFLL PLLIEKVDSE VLSAKLDSLQ TLNACCAVYG QKELKDFLPS 300
    LWASIRREVF QTASERVEAE GLAALHSLTA CLSRSVLRAD AEDLLDSFLS 350
    NILQDCRHHL CEPDMKLVWP SAKLLQAAAG ASARACDSVT SNVLPLLLEQ 400
    FHKHSQSSQR RTILEMLLGF LKLQQKWSYE DKDQRPLNGF KDQLCSLVFM 450
    ALTDPSTQLQ LVGIRTLTVL GAQPDLLSYE DLELAVGHLY RLSFLKEDSQ 500
    SCRVAALEAS GTLAALYPVA FSSHLVPKLA EELRVGESNL TNGDEPTQCS 550
    RHLCCLQALS AVSTHPSIVK ETLPLLLQHL WQVNRGNMVA QSSDVIAVCQ 600
    SLRQMAEKCQ QDPESCWYFH QTAIPCLLAL AVQASMPEKE PSVLRKVLLE 650
    DEVLAAMVSV IGTATTHLSP ELAAQSVTHI VPLFLDGNVS FLPENSFPSR 700
    FQPFQDGSSG QRRLIALLMA FVCSLPRNVE IPQLNQLMRE LLELSCCHSC 750
    PFSSTAAAKC FAGLLNKHPA GQQLDEFLQL AVDKVEAGLG SGPCRSQAFT 800
    LLLWVTKALV LRYHPLSSCL TARLMGLLSD PELGPAAADG FSLLMSDCTD 850
    VLTRAGHAEV RIMFRQRFFT DNVPALVQGF HAAPQDVKPN YLKGLSHVLN 900
    RLPKPVLLPE LPTLLSLLLE ALSCPDCVVQ LSTLSCLQPL LLEAPQVMSL 950
    HVDTLVTKFL NLSSSPSMAV RIAALQCMHA LTRLPTPVLL PYKPQVIRAL 1000
    AKPLDDKKRL VRKEAVSARG EWFLLGSPGS 1030
    Length:1,030
    Mass (Da):113,290
    Last modified:June 26, 2007 - v2
    Checksum:i7EC22CF0E38EFE1D
    GO
    Isoform 2 (identifier: Q96T76-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         309-318: VFQTASERVE → TAGTTCVNRT
         319-1030: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:318
    Mass (Da):35,203
    Checksum:i26BF6FED00AB85D4
    GO
    Isoform 3 (identifier: Q96T76-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         38-40: DVK → GPL
         41-1030: Missing.

    Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:40
    Mass (Da):3,888
    Checksum:i9AE881188641ECFA
    GO
    Isoform 4 (identifier: Q96T76-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         309-406: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:932
    Mass (Da):102,639
    Checksum:iD55192BDBC190D1A
    GO
    Isoform 5 (identifier: Q96T76-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MRGEPVSSHRPYPLPRSLVRVM

    Note: No experimental confirmation available.

    Show »
    Length:1,051
    Mass (Da):115,705
    Checksum:i1E9C9F27F55B9F62
    GO
    Isoform 6 (identifier: Q96T76-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         165-207: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:987
    Mass (Da):108,380
    Checksum:i5BDE355AA44E8D1B
    GO

    Sequence cautioni

    The sequence CAC29239.1 differs from that shown. Reason: Frameshift at positions 373 and 412.
    The sequence BAB55315.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAG51657.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti179 – 1791Q → H in AAK70402. (PubMed:11279242)Curated
    Sequence conflicti389 – 3891V → D in AAK70402. (PubMed:11279242)Curated
    Sequence conflicti394 – 3941L → P in AAK70402. (PubMed:11279242)Curated
    Sequence conflicti473 – 4731Q → R in BAG51657. (PubMed:14702039)Curated
    Sequence conflicti502 – 5032CR → W in BAG51657. (PubMed:14702039)Curated
    Sequence conflicti607 – 6071E → K in BAG65145. (PubMed:14702039)Curated
    Sequence conflicti640 – 6401E → G in BAB55315. (PubMed:14702039)Curated
    Sequence conflicti661 – 6611I → V in BAG65145. (PubMed:14702039)Curated
    Sequence conflicti741 – 7411L → F in AAK70402. (PubMed:11279242)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti68 – 681A → G.7 Publications
    Corresponds to variant rs2275586 [ dbSNP | Ensembl ].
    VAR_023448
    Natural varianti98 – 981R → W.1 Publication
    Corresponds to variant rs29001280 [ dbSNP | Ensembl ].
    VAR_023449
    Natural varianti197 – 1971V → I.1 Publication
    Corresponds to variant rs29001285 [ dbSNP | Ensembl ].
    VAR_023450
    Natural varianti306 – 3061R → H.1 Publication
    Corresponds to variant rs29001306 [ dbSNP | Ensembl ].
    VAR_023451
    Natural varianti365 – 3651M → V.1 Publication
    Corresponds to variant rs29001309 [ dbSNP | Ensembl ].
    VAR_023452
    Natural varianti409 – 4091Q → P.1 Publication
    Corresponds to variant rs29001311 [ dbSNP | Ensembl ].
    VAR_023453
    Natural varianti434 – 4341Q → E.1 Publication
    Corresponds to variant rs29001314 [ dbSNP | Ensembl ].
    VAR_023454
    Natural varianti526 – 5261V → I.1 Publication
    Corresponds to variant rs17112809 [ dbSNP | Ensembl ].
    VAR_023455
    Natural varianti558 – 5581A → V.1 Publication
    Corresponds to variant rs12360068 [ dbSNP | Ensembl ].
    VAR_023456
    Natural varianti790 – 7901G → D.3 Publications
    Corresponds to variant rs3740526 [ dbSNP | Ensembl ].
    VAR_023457
    Natural varianti983 – 9831R → H.1 Publication
    Corresponds to variant rs29001332 [ dbSNP | Ensembl ].
    VAR_023458

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MRGEPVSSHRPYPLPRSLVR VM in isoform 5. 1 PublicationVSP_044182
    Alternative sequencei38 – 403DVK → GPL in isoform 3. 1 PublicationVSP_040310
    Alternative sequencei41 – 1030990Missing in isoform 3. 1 PublicationVSP_040311Add
    BLAST
    Alternative sequencei165 – 20743Missing in isoform 6. 1 PublicationVSP_044183Add
    BLAST
    Alternative sequencei309 – 40698Missing in isoform 4. 1 PublicationVSP_015565Add
    BLAST
    Alternative sequencei309 – 31810VFQTASERVE → TAGTTCVNRT in isoform 2. 1 PublicationVSP_040312
    Alternative sequencei319 – 1030712Missing in isoform 2. 1 PublicationVSP_040313Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ306408 mRNA. Translation: CAC29239.1. Frameshift.
    AF357881 mRNA. Translation: AAK70402.1.
    AF319947 mRNA. Translation: AAK52668.1.
    AK027710 mRNA. Translation: BAB55315.1. Different initiation.
    AK056244 mRNA. Translation: BAG51657.1. Different initiation.
    AK056581 mRNA. Translation: BAB71223.1. Sequence problems.
    AK298995 mRNA. Translation: BAG61084.1.
    AK304287 mRNA. Translation: BAG65145.1.
    AY974244 Genomic DNA. Translation: AAX59033.1.
    AL355490, AL359388 Genomic DNA. Translation: CAI40770.1.
    AL355490, AL359388 Genomic DNA. Translation: CAQ10792.1.
    AL359388, AL355490 Genomic DNA. Translation: CAI14189.1.
    AL359388, AL355490 Genomic DNA. Translation: CAQ08641.1.
    CH471066 Genomic DNA. Translation: EAW49924.1.
    CH471066 Genomic DNA. Translation: EAW49927.1.
    CH471066 Genomic DNA. Translation: EAW49928.1.
    BC002692 mRNA. Translation: AAH02692.1.
    BC006575 mRNA. Translation: AAH06575.2.
    BC009396 mRNA. Translation: AAH09396.2.
    BC080532 mRNA. Translation: AAH80532.1. Sequence problems.
    BC117129 mRNA. Translation: AAI17130.1.
    CCDSiCCDS7464.1. [Q96T76-1]
    RefSeqiNP_001276332.1. NM_001289403.1. [Q96T76-9]
    NP_001276333.1. NM_001289404.1.
    NP_001276334.1. NM_001289405.1. [Q96T76-1]
    NP_071757.4. NM_022362.4. [Q96T76-1]
    UniGeneiHs.500721.

    Genome annotation databases

    EnsembliENST00000327238; ENSP00000320059; ENSG00000155229. [Q96T76-5]
    ENST00000355839; ENSP00000348097; ENSG00000155229. [Q96T76-9]
    ENST00000370782; ENSP00000359818; ENSG00000155229. [Q96T76-1]
    ENST00000415383; ENSP00000395045; ENSG00000155229. [Q96T76-6]
    ENST00000438925; ENSP00000412698; ENSG00000155229. [Q96T76-1]
    ENST00000441194; ENSP00000413801; ENSG00000155229. [Q96T76-6]
    GeneIDi64210.
    KEGGihsa:64210.
    UCSCiuc001knr.3. human. [Q96T76-1]
    uc009xvt.3. human. [Q96T76-5]
    uc010qox.3. human. [Q96T76-9]

    Polymorphism databases

    DMDMi150421597.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ306408 mRNA. Translation: CAC29239.1 . Frameshift.
    AF357881 mRNA. Translation: AAK70402.1 .
    AF319947 mRNA. Translation: AAK52668.1 .
    AK027710 mRNA. Translation: BAB55315.1 . Different initiation.
    AK056244 mRNA. Translation: BAG51657.1 . Different initiation.
    AK056581 mRNA. Translation: BAB71223.1 . Sequence problems.
    AK298995 mRNA. Translation: BAG61084.1 .
    AK304287 mRNA. Translation: BAG65145.1 .
    AY974244 Genomic DNA. Translation: AAX59033.1 .
    AL355490 , AL359388 Genomic DNA. Translation: CAI40770.1 .
    AL355490 , AL359388 Genomic DNA. Translation: CAQ10792.1 .
    AL359388 , AL355490 Genomic DNA. Translation: CAI14189.1 .
    AL359388 , AL355490 Genomic DNA. Translation: CAQ08641.1 .
    CH471066 Genomic DNA. Translation: EAW49924.1 .
    CH471066 Genomic DNA. Translation: EAW49927.1 .
    CH471066 Genomic DNA. Translation: EAW49928.1 .
    BC002692 mRNA. Translation: AAH02692.1 .
    BC006575 mRNA. Translation: AAH06575.2 .
    BC009396 mRNA. Translation: AAH09396.2 .
    BC080532 mRNA. Translation: AAH80532.1 . Sequence problems.
    BC117129 mRNA. Translation: AAI17130.1 .
    CCDSi CCDS7464.1. [Q96T76-1 ]
    RefSeqi NP_001276332.1. NM_001289403.1. [Q96T76-9 ]
    NP_001276333.1. NM_001289404.1.
    NP_001276334.1. NM_001289405.1. [Q96T76-1 ]
    NP_071757.4. NM_022362.4. [Q96T76-1 ]
    UniGenei Hs.500721.

    3D structure databases

    ProteinModelPortali Q96T76.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122103. 182 interactions.
    IntActi Q96T76. 6 interactions.

    PTM databases

    PhosphoSitei Q96T76.

    Polymorphism databases

    DMDMi 150421597.

    Proteomic databases

    MaxQBi Q96T76.
    PaxDbi Q96T76.
    PRIDEi Q96T76.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000327238 ; ENSP00000320059 ; ENSG00000155229 . [Q96T76-5 ]
    ENST00000355839 ; ENSP00000348097 ; ENSG00000155229 . [Q96T76-9 ]
    ENST00000370782 ; ENSP00000359818 ; ENSG00000155229 . [Q96T76-1 ]
    ENST00000415383 ; ENSP00000395045 ; ENSG00000155229 . [Q96T76-6 ]
    ENST00000438925 ; ENSP00000412698 ; ENSG00000155229 . [Q96T76-1 ]
    ENST00000441194 ; ENSP00000413801 ; ENSG00000155229 . [Q96T76-6 ]
    GeneIDi 64210.
    KEGGi hsa:64210.
    UCSCi uc001knr.3. human. [Q96T76-1 ]
    uc009xvt.3. human. [Q96T76-5 ]
    uc010qox.3. human. [Q96T76-9 ]

    Organism-specific databases

    CTDi 64210.
    GeneCardsi GC10M099209.
    H-InvDB HIX0009091.
    HGNCi HGNC:13824. MMS19.
    HPAi HPA051936.
    HPA056299.
    MIMi 614777. gene.
    neXtProti NX_Q96T76.
    PharmGKBi PA162395974.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG320478.
    HOVERGENi HBG057358.
    InParanoidi Q96T76.
    KOi K15075.
    OMAi DHITSNV.
    PhylomeDBi Q96T76.
    TreeFami TF314469.

    Enzyme and pathway databases

    Reactomei REACT_160176. Cytosolic iron-sulfur cluster assembly.

    Miscellaneous databases

    ChiTaRSi MMS19. human.
    GeneWikii MMS19.
    GenomeRNAii 64210.
    NextBioi 66115.
    PROi Q96T76.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96T76.
    Bgeei Q96T76.
    CleanExi HS_MMS19.
    Genevestigatori Q96T76.

    Family and domain databases

    Gene3Di 1.25.10.10. 2 hits.
    InterProi IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR024687. MMS19_C.
    [Graphical view ]
    Pfami PF12460. MMS19_C. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 5 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of a human homolog of the yeast nucleotide excision repair gene MMS19 and interaction with transcription repair factor TFIIH via the XPB and XPD helicases."
      Seroz T., Winkler G.S., Auriol J., Verhage R.A., Vermeulen W., Smit B., Brouwer J., Eker A.P.M., Weeda G., Egly J.-M., Hoeijmakers J.H.J.
      Nucleic Acids Res. 28:4506-4513(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLY-68, FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH ERCC2 AND ERCC3.
      Tissue: Cervix carcinoma.
    2. "The human homologue of the yeast DNA repair and TFIIH regulator MMS19 is an AF-1-specific coactivator of estrogen receptor."
      Wu X., Li H., Chen J.D.
      J. Biol. Chem. 276:23962-23968(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLY-68, INTERACTION WITH NCOA3, SUBCELLULAR LOCATION.
    3. "Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant."
      Queimado L., Rao M., Schultz R.A., Koonin E.V., Aravind L., Nardo T., Stefanini M., Friedberg E.C.
      Nucleic Acids Res. 29:1884-1891(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT GLY-68.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5 AND 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 48-1030 (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 127-1030 (ISOFORM 2), VARIANTS GLY-68 AND ASP-790.
      Tissue: Teratocarcinoma, Tongue and Trachea.
    5. NIEHS SNPs program
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-68; TRP-98; ILE-197; HIS-306; VAL-365; PRO-409; GLU-434; ILE-526; VAL-558; ASP-790 AND HIS-983.
    6. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-68.
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANTS GLY-68 AND ASP-790.
      Tissue: Brain, Lymph and Uterus.
    9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    10. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-496, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation."
      Ito S., Tan L.J., Andoh D., Narita T., Seki M., Hirano Y., Narita K., Kuraoka I., Hiraoka Y., Tanaka K.
      Mol. Cell 39:632-640(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION IN MMXD COMPLEX, INTERACTION WITH FAM96B, SUBCELLULAR LOCATION.
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1027, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity."
      Stehling O., Vashisht A.A., Mascarenhas J., Jonsson Z.O., Sharma T., Netz D.J., Pierik A.J., Wohlschlegel J.A., Lill R.
      Science 337:195-199(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION IN THE CIA COMPLEX.
    15. "MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism."
      Gari K., Leon Ortiz A.M., Borel V., Flynn H., Skehel J.M., Boulton S.J.
      Science 337:243-245(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION IN THE CIA COMPLEX, SUBCELLULAR LOCATION, INTERACTION WITH RTEL1.

    Entry informationi

    Entry nameiMMS19_HUMAN
    AccessioniPrimary (citable) accession number: Q96T76
    Secondary accession number(s): B0QZ75
    , B3KPE5, B4DQX2, B4E2I3, D3DR55, F8W9Y2, Q17RZ8, Q5T455, Q66K82, Q7L4W8, Q969Z1, Q96DF1, Q96MR1, Q96RK5, Q96SK1, Q9BUE2, Q9BYS9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 13, 2005
    Last sequence update: June 26, 2007
    Last modified: October 1, 2014
    This is version 118 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3