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Q96T76 - MMS19_HUMAN

UniProt

Q96T76 - MMS19_HUMAN

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Protein

MMS19 nucleotide excision repair protein homolog

Gene

MMS19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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, bridging Source: UniProtKB
  3. receptor signaling complex scaffold activity Source: UniProtKB
  4. 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
Complete GO annotation...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:13824. MMS19.

Subcellular locationi

Nucleus. Cytoplasm › cytoskeleton › spindle

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. nucleoplasm Source: HPA
  7. nucleus Source: UniProtKB
  8. spindle Source: UniProtKB
Complete GO annotation...

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

BgeeiQ96T76.
CleanExiHS_MMS19.
ExpressionAtlasiQ96T76. baseline and differential.
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. 183 interactions.
IntActiQ96T76. 6 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ96T76.
SMRiQ96T76. Positions 50-102, 453-509, 872-981.
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.
GeneTreeiENSGT00390000015583.
HOVERGENiHBG057358.
InParanoidiQ96T76.
KOiK15075.
OMAiSMPEKEP.
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

        10         20         30         40         50
MAAAAAVEAA APMGALWGLV HDFVVGQQEG PADQVAADVK SGNYTVLQVV 
        60         70         80         90        100
EALGSSLENP EPRTRARAIQ LLSQVLLHCH TLLLEKEVVH LILFYENRLK 
       110        120        130        140        150
DHHLVIPSVL QGLKALSLCV ALPPGLAVSV LKAIFQEVHV QSLPQVDRHT 
       160        170        180        190        200
VYNIITNFMR TREEELKSLG ADFTFGFIQV MDGEKDPRNL LVAFRIVHDL 
       210        220        230        240        250
ISRDYSLGPF VEELFEVTSC YFPIDFTPPP NDPHGIQRED LILSLRAVLA 
       260        270        280        290        300
STPRFAEFLL PLLIEKVDSE VLSAKLDSLQ TLNACCAVYG QKELKDFLPS 
       310        320        330        340        350
LWASIRREVF QTASERVEAE GLAALHSLTA CLSRSVLRAD AEDLLDSFLS 
       360        370        380        390        400
NILQDCRHHL CEPDMKLVWP SAKLLQAAAG ASARACDSVT SNVLPLLLEQ 
       410        420        430        440        450
FHKHSQSSQR RTILEMLLGF LKLQQKWSYE DKDQRPLNGF KDQLCSLVFM 
       460        470        480        490        500
ALTDPSTQLQ LVGIRTLTVL GAQPDLLSYE DLELAVGHLY RLSFLKEDSQ 
       510        520        530        540        550
SCRVAALEAS GTLAALYPVA FSSHLVPKLA EELRVGESNL TNGDEPTQCS 
       560        570        580        590        600
RHLCCLQALS AVSTHPSIVK ETLPLLLQHL WQVNRGNMVA QSSDVIAVCQ 
       610        620        630        640        650
SLRQMAEKCQ QDPESCWYFH QTAIPCLLAL AVQASMPEKE PSVLRKVLLE 
       660        670        680        690        700
DEVLAAMVSV IGTATTHLSP ELAAQSVTHI VPLFLDGNVS FLPENSFPSR 
       710        720        730        740        750
FQPFQDGSSG QRRLIALLMA FVCSLPRNVE IPQLNQLMRE LLELSCCHSC 
       760        770        780        790        800
PFSSTAAAKC FAGLLNKHPA GQQLDEFLQL AVDKVEAGLG SGPCRSQAFT 
       810        820        830        840        850
LLLWVTKALV LRYHPLSSCL TARLMGLLSD PELGPAAADG FSLLMSDCTD 
       860        870        880        890        900
VLTRAGHAEV RIMFRQRFFT DNVPALVQGF HAAPQDVKPN YLKGLSHVLN 
       910        920        930        940        950
RLPKPVLLPE LPTLLSLLLE ALSCPDCVVQ LSTLSCLQPL LLEAPQVMSL 
       960        970        980        990       1000
HVDTLVTKFL NLSSSPSMAV RIAALQCMHA LTRLPTPVLL PYKPQVIRAL 
      1010       1020       1030
AKPLDDKKRL VRKEAVSARG EWFLLGSPGS
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 BAB55315.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG51657.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAC29239.1 differs from that shown. Reason: Frameshift at positions 373 and 412. Curated

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:
EMBLi
GenBanki
DDBJi
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.
CCDSiCCDS73177.1. [Q96T76-9]
CCDS7464.1. [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:
EMBLi
GenBanki
DDBJi
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.
CCDSiCCDS73177.1. [Q96T76-9]
CCDS7464.1. [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.

3D structure databases

ProteinModelPortaliQ96T76.
SMRiQ96T76. Positions 50-102, 453-509, 872-981.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122103. 183 interactions.
IntActiQ96T76. 6 interactions.

PTM databases

PhosphoSiteiQ96T76.

Polymorphism databases

DMDMi150421597.

Proteomic databases

MaxQBiQ96T76.
PaxDbiQ96T76.
PRIDEiQ96T76.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi64210.
GeneCardsiGC10M099218.
H-InvDBHIX0009091.
HGNCiHGNC:13824. MMS19.
HPAiHPA051936.
HPA056299.
MIMi614777. gene.
neXtProtiNX_Q96T76.
PharmGKBiPA162395974.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG320478.
GeneTreeiENSGT00390000015583.
HOVERGENiHBG057358.
InParanoidiQ96T76.
KOiK15075.
OMAiSMPEKEP.
PhylomeDBiQ96T76.
TreeFamiTF314469.

Enzyme and pathway databases

ReactomeiREACT_160176. Cytosolic iron-sulfur cluster assembly.

Miscellaneous databases

ChiTaRSiMMS19. human.
GeneWikiiMMS19.
GenomeRNAii64210.
NextBioi66115.
PROiQ96T76.
SOURCEiSearch...

Gene expression databases

BgeeiQ96T76.
CleanExiHS_MMS19.
ExpressionAtlasiQ96T76. baseline and differential.
GenevestigatoriQ96T76.

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.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
+Additional computationally mapped references.

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: February 4, 2015
This is version 122 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.