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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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), homologous recombination-mediated double-strand break DNA repair, DNA replication and RNA polymerase II (POL II) transcription (PubMed:22678362, PubMed:22678361, PubMed:29225034, PubMed:23585563). 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 (PubMed:20797633). Indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into some component of the TFIIH-machinery (PubMed:11279242).6 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • enzyme binding Source: Ensembl
  • estrogen receptor binding Source: UniProtKB
  • protein binding, bridging Source: UniProtKB
  • receptor signaling complex scaffold activity Source: UniProtKB
  • transcription coactivator activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator
Biological processChromosome partition, DNA damage, DNA repair, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2564830 Cytosolic iron-sulfur cluster assembly

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
MMS19 nucleotide excision repair protein homolog
Short name:
hMMS19
Alternative name(s):
MET18 homolog
MMS19-like protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MMS19Imported
Synonyms:MMS19L
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000155229.20

Human Gene Nomenclature Database

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HGNCi
HGNC:13824 MMS19

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614777 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96T76

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi993K → R: Impairs MAGEF1-NSMCE1-mediated polyubiquitination when associated with R-1002, 1007-R-R-1008 and R-1013. 1 Publication1
Mutagenesisi1002K → R: Impairs MAGEF1-NSMCE1-mediated polyubiquitination when associated with R-993, 1007-R-R-1008 and R-1013. 1 Publication1
Mutagenesisi1007 – 1008KK → RR: Impairs MAGEF1-NSMCE1-mediated polyubiquitination when associated with R-993, R-1002 and R-1013. 1 Publication2
Mutagenesisi1013K → R: Impairs MAGEF1-NSMCE1-mediated polyubiquitination when associated with R-993, R-1002 and 1007-R-R-1008. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
64210

Open Targets

More...
OpenTargetsi
ENSG00000155229

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162395974

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MMS19

Domain mapping of disease mutations (DMDM)

More...
DMDMi
150421597

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000965142 – 1030MMS19 nucleotide excision repair protein homologAdd BLAST1029

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei496N6-acetyllysineCombined sources1
Modified residuei1027PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated; undergoes 'Lys-48'-linked polyubiquitination by MAGEF1-NSMCE1 ubiquitin ligase complex leading to proteasomal degradation.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96T76

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96T76

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96T76

PeptideAtlas

More...
PeptideAtlasi
Q96T76

PRoteomics IDEntifications database

More...
PRIDEi
Q96T76

ProteomicsDB human proteome resource

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ProteomicsDBi
78210
78211 [Q96T76-5]
78212 [Q96T76-6]
78213 [Q96T76-7]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q96T76-6 [Q96T76-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96T76

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96T76

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed with higher expression in testis.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000155229 Expressed in 230 organ(s), highest expression level in right hemisphere of cerebellum

CleanEx database of gene expression profiles

More...
CleanExi
HS_MMS19

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96T76 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96T76 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051936
HPA056299

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the CIA complex (PubMed:22678362, PubMed:22678361, PubMed:23585563). In the CIA complex, interacts directly with CIAO2B and CIAO3 (PubMed:23585563). Component of the MMXD complex, composed of CIAO1, ERCC2, CIAO2B, MMS19 and SLC25A5 (PubMed:20797633). Interacts with CIAO2B; the interaction is direct (PubMed:20797633). Interacts with ERCC2/XPD; the interaction is direct (PubMed:11071939, PubMed:23585563). Interacts with ERCC3/XPB and NCOA3/RAC3 (PubMed:11071939, PubMed:11279242). Interacts with RTEL1; the interaction mediates the association of RTEL1 with the CIA complex (PubMed:22678361, PubMed:23585563). Interacts with BRIP1 (PubMed:23585563).6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122103, 196 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q96T76

Protein interaction database and analysis system

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IntActi
Q96T76, 29 interactors

Molecular INTeraction database

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MINTi
Q96T76

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000359818

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q96T76

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati866 – 904HEAT 1Add BLAST39
Repeati908 – 946HEAT 2Add BLAST39
Repeati949 – 987HEAT 3Add BLAST39
Repeati990 – 1028HEAT 4Add BLAST39

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the MET18/MMS19 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1967 Eukaryota
ENOG410XNMZ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015583

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000038024

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG057358

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96T76

KEGG Orthology (KO)

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KOi
K15075

Identification of Orthologs from Complete Genome Data

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OMAi
FEIFACY

Database of Orthologous Groups

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OrthoDBi
EOG091G00K8

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96T76

TreeFam database of animal gene trees

More...
TreeFami
TF314469

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR039920 MET18/MMS19
IPR024687 MMS19_C
IPR029240 MMS19_N

The PANTHER Classification System

More...
PANTHERi
PTHR12891 PTHR12891, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF12460 MMS19_C, 1 hit
PF14500 MMS19_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y746H0Y746_HUMAN
MMS19 nucleotide excision repair pr...
MMS19
598Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T454Q5T454_HUMAN
MMS19 nucleotide excision repair pr...
MMS19
302Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1W5H7C1W5_HUMAN
MMS19 nucleotide excision repair pr...
MMS19
149Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCH8F8WCH8_HUMAN
MMS19 nucleotide excision repair pr...
MMS19
173Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B0QZ77B0QZ77_HUMAN
MMS19 nucleotide excision repair pr...
MMS19
277Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y7V3H0Y7V3_HUMAN
MMS19 nucleotide excision repair pr...
MMS19
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0A9H7C0A9_HUMAN
MMS19 nucleotide excision repair pr...
MMS19
98Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH80532 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAB55315 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB71223 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAG51657 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAC29239 differs from that shown. Reason: Frameshift at positions 373 and 412.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti179Q → H in AAK70402 (PubMed:11279242).Curated1
Sequence conflicti389V → D in AAK70402 (PubMed:11279242).Curated1
Sequence conflicti394L → P in AAK70402 (PubMed:11279242).Curated1
Sequence conflicti473Q → R in BAG51657 (PubMed:14702039).Curated1
Sequence conflicti502 – 503CR → W in BAG51657 (PubMed:14702039).Curated2
Sequence conflicti607E → K in BAG65145 (PubMed:14702039).Curated1
Sequence conflicti640E → G in BAB55315 (PubMed:14702039).Curated1
Sequence conflicti661I → V in BAG65145 (PubMed:14702039).Curated1
Sequence conflicti741L → F in AAK70402 (PubMed:11279242).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02344868A → G7 PublicationsCorresponds to variant dbSNP:rs2275586Ensembl.1
Natural variantiVAR_02344998R → W1 PublicationCorresponds to variant dbSNP:rs29001280Ensembl.1
Natural variantiVAR_023450197V → I1 PublicationCorresponds to variant dbSNP:rs29001285Ensembl.1
Natural variantiVAR_023451306R → H1 PublicationCorresponds to variant dbSNP:rs29001306Ensembl.1
Natural variantiVAR_023452365M → V1 PublicationCorresponds to variant dbSNP:rs29001309Ensembl.1
Natural variantiVAR_023453409Q → P1 PublicationCorresponds to variant dbSNP:rs29001311Ensembl.1
Natural variantiVAR_023454434Q → E1 PublicationCorresponds to variant dbSNP:rs29001314Ensembl.1
Natural variantiVAR_023455526V → I1 PublicationCorresponds to variant dbSNP:rs17112809Ensembl.1
Natural variantiVAR_023456558A → V1 PublicationCorresponds to variant dbSNP:rs12360068Ensembl.1
Natural variantiVAR_023457790G → D3 PublicationsCorresponds to variant dbSNP:rs3740526Ensembl.1
Natural variantiVAR_023458983R → H1 PublicationCorresponds to variant dbSNP:rs29001332Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0441821M → MRGEPVSSHRPYPLPRSLVR VM in isoform 5. 1 Publication1
Alternative sequenceiVSP_04031038 – 40DVK → GPL in isoform 3. 1 Publication3
Alternative sequenceiVSP_04031141 – 1030Missing in isoform 3. 1 PublicationAdd BLAST990
Alternative sequenceiVSP_044183165 – 207Missing in isoform 6. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_015565309 – 406Missing in isoform 4. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_040312309 – 318VFQTASERVE → TAGTTCVNRT in isoform 2. 1 Publication10
Alternative sequenceiVSP_040313319 – 1030Missing in isoform 2. 1 PublicationAdd BLAST712

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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 Genomic DNA No translation available.
AL359388 Genomic DNA No translation available.
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS73177.1 [Q96T76-9]
CCDS7464.1 [Q96T76-1]
CCDS81493.1 [Q96T76-5]

NCBI Reference Sequences

More...
RefSeqi
NP_001276332.1, NM_001289403.1 [Q96T76-9]
NP_001276333.1, NM_001289404.1
NP_001276334.1, NM_001289405.1 [Q96T76-1]
NP_001317057.1, NM_001330128.1 [Q96T76-5]
NP_071757.4, NM_022362.4 [Q96T76-1]
XP_016872013.1, XM_017016524.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.500721

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
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]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
64210

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:64210

UCSC genome browser

More...
UCSCi
uc001kns.5 human [Q96T76-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 Genomic DNA No translation available.
AL359388 Genomic DNA No translation available.
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]
CCDS81493.1 [Q96T76-5]
RefSeqiNP_001276332.1, NM_001289403.1 [Q96T76-9]
NP_001276333.1, NM_001289404.1
NP_001276334.1, NM_001289405.1 [Q96T76-1]
NP_001317057.1, NM_001330128.1 [Q96T76-5]
NP_071757.4, NM_022362.4 [Q96T76-1]
XP_016872013.1, XM_017016524.1
UniGeneiHs.500721

3D structure databases

ProteinModelPortaliQ96T76
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122103, 196 interactors
CORUMiQ96T76
IntActiQ96T76, 29 interactors
MINTiQ96T76
STRINGi9606.ENSP00000359818

PTM databases

iPTMnetiQ96T76
PhosphoSitePlusiQ96T76

Polymorphism and mutation databases

BioMutaiMMS19
DMDMi150421597

Proteomic databases

EPDiQ96T76
MaxQBiQ96T76
PaxDbiQ96T76
PeptideAtlasiQ96T76
PRIDEiQ96T76
ProteomicsDBi78210
78211 [Q96T76-5]
78212 [Q96T76-6]
78213 [Q96T76-7]
TopDownProteomicsiQ96T76-6 [Q96T76-6]

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
UCSCiuc001kns.5 human [Q96T76-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64210
DisGeNETi64210
EuPathDBiHostDB:ENSG00000155229.20

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MMS19

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0009091
HGNCiHGNC:13824 MMS19
HPAiHPA051936
HPA056299
MIMi614777 gene
neXtProtiNX_Q96T76
OpenTargetsiENSG00000155229
PharmGKBiPA162395974

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1967 Eukaryota
ENOG410XNMZ LUCA
GeneTreeiENSGT00390000015583
HOGENOMiHOG000038024
HOVERGENiHBG057358
InParanoidiQ96T76
KOiK15075
OMAiFEIFACY
OrthoDBiEOG091G00K8
PhylomeDBiQ96T76
TreeFamiTF314469

Enzyme and pathway databases

ReactomeiR-HSA-2564830 Cytosolic iron-sulfur cluster assembly

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MMS19 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MMS19

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
64210

Protein Ontology

More...
PROi
PR:Q96T76

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000155229 Expressed in 230 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_MMS19
ExpressionAtlasiQ96T76 baseline and differential
GenevisibleiQ96T76 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR039920 MET18/MMS19
IPR024687 MMS19_C
IPR029240 MMS19_N
PANTHERiPTHR12891 PTHR12891, 1 hit
PfamiView protein in Pfam
PF12460 MMS19_C, 1 hit
PF14500 MMS19_N, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMMS19_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>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
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: June 26, 2007
Last modified: December 5, 2018
This is version 159 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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