Reviewed,
UniProtKB/Swiss-Prot Q96T76 (MMS19_HUMAN)
Last modified
July 7, 2009.
Version 62.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: MMS19 nucleotide excision repair protein homolog Short name=hMMS19 Alternative name(s): MMS19-like protein MET18 homolog | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1030 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May play a role in nucleotide excision repair (NER) and RNA polymerase II (POL II) transcription by interacting with ERCC2/XPD and ERCC3/XPB helicases, both subunits of NER-transcription factor TFIIH. May also function as a transcriptional coactivator of estrogen receptor (ER). May be involved in regulation of ER activity by bridging TFIIH with ER or may facilitate TFIIH-mediated phosphorylation of ER in specific promoters and cell types. Ref.1 Ref.3 |
| Subunit structure | Interacts with ERCC2/XPD, ERCC3/XPB and NCOA3/RAC3. Ref.1 Ref.2 |
| Subcellular location | |
| Tissue specificity | Ubiquitously expressed with higher expression in testis. Ref.1 Ref.3 |
| Sequence similarities | Belongs to the MET18/MMS19 family. Contains 7 HEAT repeats. |
| Sequence caution | The sequence CAC29239.1 differs from that shown. Reason: Frameshift at positions 373 and 412. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| GIPC1 | O14908 | 1 | EBI-1044169,EBI-373132 | |
| ILK | Q13418 | 1 | EBI-1044169,EBI-747644 | |
| MLF2 | Q15773 | 1 | EBI-1044169,EBI-1051875 | |
| PHB2 | Q99623 | 1 | EBI-1044169,EBI-358348 | |
| PHLDA3 | Q9Y5J5 | 1 | EBI-1044169,EBI-1055859 | |
| PTP4A3 | O75365 | 1 | EBI-1044169,EBI-1043866 |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96T76-1) 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. | ||||||
| Isoform 2 (identifier: Q96T76-2) The sequence of this isoform differs from the canonical sequence as follows: 1-364: Missing. 705-705: Q → QVT 729-737: VEIPQLNQL → GSSWMNSYS 738-1030: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q96T76-3) The sequence of this isoform differs from the canonical sequence as follows: 1-737: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q96T76-4) The sequence of this isoform differs from the canonical sequence as follows: 1-158: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q96T76-5) The sequence of this isoform differs from the canonical sequence as follows: 309-406: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1030 | 1030 | MMS19 nucleotide excision repair protein homolog | PRO_0000096514 | |||||
Regions | |||||||||
| Repeat | 43 – 81 | 39 | HEAT 1 | ||||||
| Repeat | 253 – 291 | 39 | HEAT 2 | ||||||
| Repeat | 387 – 426 | 40 | HEAT 3 | ||||||
| Repeat | 866 – 904 | 39 | HEAT 4 | ||||||
| Repeat | 908 – 946 | 39 | HEAT 5 | ||||||
| Repeat | 949 – 987 | 39 | HEAT 6 | ||||||
| Repeat | 990 – 1028 | 39 | HEAT 7 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 371 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1027 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 737 | 737 | Missing in isoform 3. | VSP_015562 | |||||
| Alternative sequence | 1 – 364 | 364 | Missing in isoform 2. | VSP_015563 | |||||
| Alternative sequence | 1 – 158 | 158 | Missing in isoform 4. | VSP_015564 | |||||
| Alternative sequence | 309 – 406 | 98 | Missing in isoform 5. | VSP_015565 | |||||
| Alternative sequence | 705 | 1 | Q → QVT in isoform 2. | VSP_015566 | |||||
| Alternative sequence | 729 – 737 | 9 | VEIPQLNQL → GSSWMNSYS in isoform 2. | VSP_015567 | |||||
| Alternative sequence | 738 – 1030 | 293 | Missing in isoform 2. | VSP_015568 | |||||
| Natural variant | 68 | 1 | A → G: dbSNP rs2275586. Ref.1 Ref.3 Ref.2 Ref.4 Ref.5 Ref.7 | VAR_023448 | |||||
| Natural variant | 98 | 1 | R → W: dbSNP rs29001280. Ref.5 | VAR_023449 | |||||
| Natural variant | 197 | 1 | V → I: dbSNP rs29001285. Ref.5 | VAR_023450 | |||||
| Natural variant | 306 | 1 | R → H: dbSNP rs29001306. Ref.5 | VAR_023451 | |||||
| Natural variant | 365 | 1 | M → V: dbSNP rs29001309. Ref.5 | VAR_023452 | |||||
| Natural variant | 409 | 1 | Q → P: dbSNP rs29001311. Ref.5 | VAR_023453 | |||||
| Natural variant | 434 | 1 | Q → E: dbSNP rs29001314. Ref.5 | VAR_023454 | |||||
| Natural variant | 526 | 1 | V → I: dbSNP rs17112809. Ref.5 | VAR_023455 | |||||
| Natural variant | 558 | 1 | A → V: dbSNP rs12360068. Ref.5 | VAR_023456 | |||||
| Natural variant | 790 | 1 | G → D: dbSNP rs3740526. Ref.4 Ref.5 Ref.7 | VAR_023457 | |||||
| Natural variant | 983 | 1 | R → H: dbSNP rs29001332. Ref.5 | VAR_023458 | |||||
Experimental info | |||||||||
| Sequence conflict | 179 | 1 | Q → H in AAK70402. Ref.2 | ||||||
| Sequence conflict | 389 | 1 | V → D in AAK70402. Ref.2 | ||||||
| Sequence conflict | 394 | 1 | L → P in AAK70402. Ref.2 | ||||||
| Sequence conflict | 502 – 503 | 2 | CR → W in AAH80532. Ref.7 | ||||||
| Sequence conflict | 640 | 1 | E → G in BAB55315. Ref.4 | ||||||
| Sequence conflict | 741 | 1 | L → F in AAK70402. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 11071939] [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: 11279242] [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: 11328871] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLY-68, FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION. |
| [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 48-1030 (ISOFORM 5), VARIANTS GLY-68 AND ASP-790. Tissue: Tongue. |
| [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. Rogers J.Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4), VARIANTS GLY-68 AND ASP-790. Tissue: Brain, Eye, Lymph and Uterus. |
| [8] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1027, MASS SPECTROMETRY. |
| [9] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AJ306408 mRNA. Translation: CAC29239.1. Frameshift. AF357881 mRNA. Translation: AAK70402.1. AF319947 mRNA. Translation: AAK52668.1. AK027710 mRNA. Translation: BAB55315.1. Different initiation. AK056581 mRNA. Translation: BAB71223.1. AY974244 Genomic DNA. Translation: AAX59033.1. AL359388, AL355490 Genomic DNA. Translation: CAI14189.1. AL355490, AL359388 Genomic DNA. Translation: CAI40770.1. BC002692 mRNA. Translation: AAH02692.1. BC006575 mRNA. Translation: AAH06575.2. BC007298 mRNA. Translation: AAH07298.1. BC009396 mRNA. Translation: AAH09396.2. BC080532 mRNA. Translation: AAH80532.1. BC117129 mRNA. Translation: AAI17130.1. | |
| IPI | IPI00154451. IPI00178649. IPI00180322. IPI00640677. IPI00646611. |
| RefSeq | NP_071757.4. |
| UniGene | Hs.500721 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96T76. 13 interactions. |
PTM databases | |
| PhosphoSite | Q96T76. |
Proteomic databases | |
| PRIDE | Q96T76. |
Genome annotation databases | |
| Ensembl | ENSG00000155229. Homo sapiens. [Contig view] |
| GeneID | 64210. |
| KEGG | hsa:64210. |
| NMPDR | fig|9606.3.peg.4444. |
| UCSC | uc001knq.1. human. uc001knr.1. human. uc001kns.2. human. uc009xvt.1. human. |
Organism-specific databases | |
| GeneCards | GC10M099209. |
| H-InvDB | HIX0009091. |
| HGNC | HGNC:13824. MMS19. |
| PharmGKB | PA30892. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q96T76. |
| OMA | Q96T76. DCRHHLC. |
Gene expression databases | |
| Bgee | Q96T76. |
| CleanEx | HS_MMS19. |
| GermOnline | ENSG00000155229. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011989. ARM-like. IPR000357. HEAT. [Graphical view] |
| Gene3D | G3DSA:1.25.10.10. ARM-like. 2 hits. |
| Pfam | PF02985. HEAT. 1 hit. [Graphical view] |
| PROSITE | PS50077. HEAT_REPEAT. False negative. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 66115. |
Entry information
| Entry name | MMS19_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96T76 Secondary accession number(s): Q17RZ8 Q9BYS9 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with


