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Q96T76

- MMS19_HUMAN

UniProt

Q96T76 - MMS19_HUMAN

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Protein
MMS19 nucleotide excision repair protein homolog
Gene
MMS19, MMS19L
Organism
Homo sapiens (Human)
Status
Reviewed - 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 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. DNA metabolic process Source: UniProtKB
  2. DNA repair Source: UniProtKB
  3. cellular response to DNA damage stimulus Source: UniProtKB
  4. chromosome segregation 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:13824. MMS19.

Subcellular locationi

Nucleus. Cytoplasmcytoskeletonspindle 5 Publications

GO - Cellular componenti

  1. CIA complex Source: UniProtKB
  2. MMXD complex Source: UniProtKB
  3. cytoplasm Source: UniProtKB
  4. holo TFIIH complex Source: UniProtKB
  5. nucleus Source: UniProtKB
  6. 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 homolog
PRO_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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

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

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.

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.
VSP_044182
Alternative sequencei38 – 403DVK → GPL in isoform 3.
VSP_040310
Alternative sequencei41 – 1030990Missing in isoform 3.
VSP_040311Add
BLAST
Alternative sequencei165 – 20743Missing in isoform 6.
VSP_044183Add
BLAST
Alternative sequencei309 – 40698Missing in isoform 4.
VSP_015565Add
BLAST
Alternative sequencei309 – 31810VFQTASERVE → TAGTTCVNRT in isoform 2.
VSP_040312
Alternative sequencei319 – 1030712Missing in isoform 2.
VSP_040313Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti179 – 1791Q → H in AAK70402. 1 Publication
Sequence conflicti389 – 3891V → D in AAK70402. 1 Publication
Sequence conflicti394 – 3941L → P in AAK70402. 1 Publication
Sequence conflicti473 – 4731Q → R in BAG51657. 1 Publication
Sequence conflicti502 – 5032CR → W in BAG51657. 1 Publication
Sequence conflicti607 – 6071E → K in BAG65145. 1 Publication
Sequence conflicti640 – 6401E → G in BAB55315. 1 Publication
Sequence conflicti661 – 6611I → V in BAG65145. 1 Publication
Sequence conflicti741 – 7411L → F in AAK70402. 1 Publication

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]
ENST00000327277; ENSP00000322236; ENSG00000155229.
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 ]
ENST00000327277 ; ENSP00000322236 ; ENSG00000155229 .
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

« 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.

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: September 3, 2014
This is version 117 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

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