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UniProtKB - Q9C0A6 (SETD5_HUMAN)

Entry version 128 (10 Feb 2021)
Sequence version 2 (03 Apr 2007)
Previous versions | rss
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Protein

Histone-lysine N-methyltransferase SETD5

Gene

SETD5

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

Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission. May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K36me3), which is essential to allow on-time RNA elongation dynamics. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The relevance of histone methyltransferase activity is however subject to discussion.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionChromatin regulator, Methyltransferase, Transferase
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9C0A6

<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%5Fand%5Ftaxonomy%5Fsection">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:
Histone-lysine N-methyltransferase SETD5Curated (EC:2.1.1.359By similarity, EC:2.1.1.367By similarity)
Alternative name(s):
SET domain-containing protein 5Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SETD5Imported
Synonyms:KIAA17571 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25566, SETD5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615743, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9C0A6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000168137.15

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal dominant 23 (MRD23)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features.
Related information in OMIM
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_078954175S → G in MRD23. 1 Publication1
Natural variantiVAR_078955399 – 1442Missing in MRD23. 1 PublicationCorresponds to variant dbSNP:rs587777325Add BLAST1044
Natural variantiVAR_078956445 – 1442Missing in MRD23. 1 PublicationAdd BLAST998
Natural variantiVAR_078957622 – 1442Missing in MRD23. 1 PublicationAdd BLAST821
Natural variantiVAR_083220656 – 1442Missing in MRD23. 1 PublicationAdd BLAST787
Natural variantiVAR_078958768 – 1442Missing in MRD23. 2 PublicationsCorresponds to variant dbSNP:rs864321657Add BLAST675
Natural variantiVAR_078959973 – 1442Missing in MRD23. 2 PublicationsAdd BLAST470
Natural variantiVAR_083221985 – 1442Missing in MRD23. 1 PublicationAdd BLAST458
Natural variantiVAR_0789601001 – 1442Missing in MRD23. 1 PublicationCorresponds to variant dbSNP:rs587777327Add BLAST442
Natural variantiVAR_0789611071Y → C in MRD23; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		55209

MalaCards human disease database

More...MalaCardsi		SETD5
MIMi615761, phenotype

Open Targets

More...OpenTargetsi		ENSG00000168137

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		199, Cornelia de Lange syndrome
404440, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA143485613

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9C0A6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SETD5

Domain mapping of disease mutations (DMDM)

More...DMDMi		143584285

<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 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002819051 – 1442Histone-lysine N-methyltransferase SETD5Add BLAST1442

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 residuei72PhosphoserineCombined sources1
Modified residuei829PhosphoserineCombined sources1
Modified residuei852PhosphoserineBy similarity1
Modified residuei855PhosphothreonineBy similarity1
Modified residuei1198PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9C0A6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9C0A6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9C0A6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9C0A6

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

More...PaxDbi		Q9C0A6

PeptideAtlas

More...PeptideAtlasi		Q9C0A6

PRoteomics IDEntifications database

More...PRIDEi		Q9C0A6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79978 [Q9C0A6-1]
79979 [Q9C0A6-2]
79980 [Q9C0A6-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9C0A6

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

More...PhosphoSitePlusi		Q9C0A6

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000168137, Expressed in intestine and 236 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9C0A6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9C0A6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000168137, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with components of the PAF1 complex (PAF1C) such as LEO1, CTR9 and CDC73.

Interacts with NCOR1.

Interacts with HDAC3.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120505, 21 interactors

Protein interaction database and analysis system

More...IntActi		Q9C0A6, 18 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000385852

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9C0A6, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9C0A6

Database of comparative protein structure models

More...ModBasei		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 <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini269 – 390SETPROSITE-ProRule annotationAdd BLAST122

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1089 – 1411Ser-richAdd BLAST323

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1844, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157446

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9C0A6

Database of Orthologous Groups

More...OrthoDBi		86638at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9C0A6

TreeFam database of animal gene trees

More...TreeFami		TF106417

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001214, SET_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00856, SET, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00317, SET, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50280, SET, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry describes 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9C0A6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MSIAIPLGVT TSDTSYSDMA AGSDPESVEA SPAVNEKSVY STHNYGTTQR 
        60         70         80         90        100
HGCRGLPYAT IIPRSDLNGL PSPVEERCGD SPNSEGETVP TWCPCGLSQD 
       110        120        130        140        150
GFLLNCDKCR GMSRGKVIRL HRRKQDNISG GDSSATESWD EELSPSTVLY 
       160        170        180        190        200
TATQHTPTSI TLTVRRTKPK KRKKSPEKGR AAPKTKKIKN SPSEAQNLDE 
       210        220        230        240        250
NTTEGWENRI RLWTDQYEEA FTNQYSADVQ NALEQHLHSS KEFVGKPTIL 
       260        270        280        290        300
DTINKTELAC NNTVIGSQMQ LQLGRVTRVQ KHRKILRAAR DLALDTLIIE 
       310        320        330        340        350
YRGKVMLRQQ FEVNGHFFKK PYPFVLFYSK FNGVEMCVDA RTFGNDARFI 
       360        370        380        390        400
RRSCTPNAEV RHMIADGMIH LCIYAVSAIT KDAEVTIAFD YEYSNCNYKV 
       410        420        430        440        450
DCACHKGNRN CPIQKRNPNA TELPLLPPPP SLPTIGAETR RRKARRKELE 
       460        470        480        490        500
MEQQNEASEE NNDQQSQEVP EKVTVSSDHE EVDNPEEKPE EEKEEVIDDQ 
       510        520        530        540        550
ENLAHSRRTR EDRKVEAIMH AFENLEKRKK RRDQPLEQSN SDVEITTTTS 
       560        570        580        590        600
ETPVGEETKT EAPESEVSNS VSNVTIPSTP QSVGVNTRRS SQAGDIAAEK 
       610        620        630        640        650
LVPKPPPAKP SRPRPKSRIS RYRTSSAQRL KRQKQANAQQ AELSQAALEE 
       660        670        680        690        700
GGSNSLVTPT EAGSLDSSGE NRPLTGSDPT VVSITGSHVN RAASKYPKTK 
       710        720        730        740        750
KYLVTEWLND KAEKQECPVE CPLRITTDPT VLATTLNMLP GLIHSPLICT 
       760        770        780        790        800
TPKHYIRFGS PFIPERRRRP LLPDGTFSSC KKRWIKQALE EGMTQTSSVP 
       810        820        830        840        850
QETRTQHLYQ SNENSSSSSI CKDNADLLSP LKKWKSRYLM EQNVTKLLRP 
       860        870        880        890        900
LSPVTPPPPN SGSKSPQLAT PGSSHPGEEE CRNGYSLMFS PVTSLTTASR 
       910        920        930        940        950
CNTPLQFELC HRKDLDLAKV GYLDSNTNSC ADRPSLLNSG HSDLAPHPSL 
       960        970        980        990       1000
GPTSETGFPS RSGDGHQTLV RNSDQAFRTE FNLMYAYSPL NAMPRADGLY 
      1010       1020       1030       1040       1050
RGSPLVGDRK PLHLDGGYCS PAEGFSSRYE HGLMKDLSRG SLSPGGERAC 
      1060       1070       1080       1090       1100
EGVPSAPQNP PQRKKVSLLE YRKRKQEAKE NSAGGGGDSA QSKSKSAGAG 
      1110       1120       1130       1140       1150
QGSSNSVSDT GAHGVQGSSA RTPSSPHKKF SPSHSSMSHL EAVSPSDSRG 
      1160       1170       1180       1190       1200
TSSSHCRPQE NISSRWMVPT SVERLREGGS IPKVLRSSVR VAQKGEPSPT 
      1210       1220       1230       1240       1250
WESNITEKDS DPADGEGPET LSSALSKGAT VYSPSRYSYQ LLQCDSPRTE 
      1260       1270       1280       1290       1300
SQSLLQQSSS PFRGHPTQSP GYSYRTTALR PGNPPSHGSS ESSLSSTSYS 
      1310       1320       1330       1340       1350
SPAHPVSTDS LAPFTGTPGY FSSQPHSGNS TGSNLPRRSC PSSAASPTLQ 
      1360       1370       1380       1390       1400
GPSDSPTSDS VSQSSTGTLS STSFPQNSRS SLPSDLRTIS LPSAGQSAVY 
      1410       1420       1430       1440 
QASRVSAVSN SQHYPHRGSG GVHQYRLQPL QGSGVKTQTG LS
Length:1,442
Mass (Da):157,515
Last modified:April 3, 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:iE3CDBA72E2ED0DB4
GO
Isoform 2 (identifier: Q9C0A6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-111: Missing.

Show »
Length:1,331
Mass (Da):145,806
Checksum:iD708ECCE0731CC24
GO
Isoform 3 (identifier: Q9C0A6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-111: Missing.
     188-188: I → IKAFREGSRKSLRM

Show »
Length:1,344
Mass (Da):147,354
Checksum:i6B931746D5ACC252
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EWN3E7EWN3_HUMAN
Histone-lysine N-methyltransferase ...
SETD5
1,461Annotation score:

Annotation score:2 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>
H0Y3R4H0Y3R4_HUMAN
Histone-lysine N-methyltransferase ...
SETD5
911Annotation 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>
H7C1Q2H7C1Q2_HUMAN
Histone-lysine N-methyltransferase ...
SETD5
177Annotation 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>
H7C1F2H7C1F2_HUMAN
Histone-lysine N-methyltransferase ...
SETD5
441Annotation 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>
F2Z2J0F2Z2J0_HUMAN
Histone-lysine N-methyltransferase ...
SETD5
52Annotation 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>
F8WD12F8WD12_HUMAN
Histone-lysine N-methyltransferase ...
SETD5
65Annotation 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 AAH20956 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA91762 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB14903 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB15144 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB21848 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti369I → N in CAH10497 (PubMed:17974005).Curated1
Sequence conflicti869A → V in CAH10497 (PubMed:17974005).Curated1
Sequence conflicti985Y → H in CAH10497 (PubMed:17974005).Curated1
Sequence conflicti1123P → S in BAB14903 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05133677R → H. Corresponds to variant dbSNP:rs41387348EnsemblClinVar.1
Natural variantiVAR_051337119R → I. Corresponds to variant dbSNP:rs11720526Ensembl.1
Natural variantiVAR_078954175S → G in MRD23. 1 Publication1
Natural variantiVAR_078955399 – 1442Missing in MRD23. 1 PublicationCorresponds to variant dbSNP:rs587777325Add BLAST1044
Natural variantiVAR_078956445 – 1442Missing in MRD23. 1 PublicationAdd BLAST998
Natural variantiVAR_078957622 – 1442Missing in MRD23. 1 PublicationAdd BLAST821
Natural variantiVAR_083220656 – 1442Missing in MRD23. 1 PublicationAdd BLAST787
Natural variantiVAR_078958768 – 1442Missing in MRD23. 2 PublicationsCorresponds to variant dbSNP:rs864321657Add BLAST675
Natural variantiVAR_078959973 – 1442Missing in MRD23. 2 PublicationsAdd BLAST470
Natural variantiVAR_083221985 – 1442Missing in MRD23. 1 PublicationAdd BLAST458
Natural variantiVAR_0789601001 – 1442Missing in MRD23. 1 PublicationCorresponds to variant dbSNP:rs587777327Add BLAST442
Natural variantiVAR_0789611071Y → C in MRD23; unknown pathological significance. 1 Publication1
Natural variantiVAR_0513381137M → V. Corresponds to variant dbSNP:rs13327456EnsemblClinVar.1
Natural variantiVAR_0617051308T → I. Corresponds to variant dbSNP:rs11542009Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0240941 – 111Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST111
Alternative sequenceiVSP_024095188I → IKAFREGSRKSLRM in isoform 3. 1 Publication1

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
AB051544 mRNA Translation: BAB21848.1 Different initiation.
AL442073 mRNA Translation: CAC09439.2
CR627408 mRNA Translation: CAH10497.1
AC018506 Genomic DNA No translation available.
BC020956 mRNA Translation: AAH20956.1 Different initiation.
AK001569 mRNA Translation: BAA91762.1 Different initiation.
AK024384 mRNA Translation: BAB14903.1 Different initiation.
AK025478 mRNA Translation: BAB15144.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS46741.1 [Q9C0A6-1]
CCDS74892.1 [Q9C0A6-3]

NCBI Reference Sequences

More...RefSeqi		NP_001073986.1, NM_001080517.2 [Q9C0A6-1]
NP_001278972.1, NM_001292043.1 [Q9C0A6-3]
XP_016862270.1, XM_017006781.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000402198; ENSP00000385852; ENSG00000168137 [Q9C0A6-1]
ENST00000406341; ENSP00000383939; ENSG00000168137 [Q9C0A6-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55209

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55209

UCSC genome browser

More...UCSCi		uc003brt.3, human [Q9C0A6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051544 mRNA Translation: BAB21848.1 Different initiation.
AL442073 mRNA Translation: CAC09439.2
CR627408 mRNA Translation: CAH10497.1
AC018506 Genomic DNA No translation available.
BC020956 mRNA Translation: AAH20956.1 Different initiation.
AK001569 mRNA Translation: BAA91762.1 Different initiation.
AK024384 mRNA Translation: BAB14903.1 Different initiation.
AK025478 mRNA Translation: BAB15144.1 Different initiation.
CCDSiCCDS46741.1 [Q9C0A6-1]
CCDS74892.1 [Q9C0A6-3]
RefSeqiNP_001073986.1, NM_001080517.2 [Q9C0A6-1]
NP_001278972.1, NM_001292043.1 [Q9C0A6-3]
XP_016862270.1, XM_017006781.1

3D structure databases

SMRiQ9C0A6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120505, 21 interactors
IntActiQ9C0A6, 18 interactors
STRINGi9606.ENSP00000385852

PTM databases

iPTMnetiQ9C0A6
PhosphoSitePlusiQ9C0A6

Genetic variation databases

BioMutaiSETD5
DMDMi143584285

Proteomic databases

EPDiQ9C0A6
jPOSTiQ9C0A6
MassIVEiQ9C0A6
MaxQBiQ9C0A6
PaxDbiQ9C0A6
PeptideAtlasiQ9C0A6
PRIDEiQ9C0A6
ProteomicsDBi79978 [Q9C0A6-1]
79979 [Q9C0A6-2]
79980 [Q9C0A6-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		60053, 82 antibodies

Genome annotation databases

EnsembliENST00000402198; ENSP00000385852; ENSG00000168137 [Q9C0A6-1]
ENST00000406341; ENSP00000383939; ENSG00000168137 [Q9C0A6-1]
GeneIDi55209
KEGGihsa:55209
UCSCiuc003brt.3, human [Q9C0A6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55209
DisGeNETi55209

GeneCards: human genes, protein and diseases

More...GeneCardsi		SETD5
HGNCiHGNC:25566, SETD5
HPAiENSG00000168137, Low tissue specificity
MalaCardsiSETD5
MIMi615743, gene
615761, phenotype
neXtProtiNX_Q9C0A6
OpenTargetsiENSG00000168137
Orphaneti199, Cornelia de Lange syndrome
404440, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
PharmGKBiPA143485613
VEuPathDBiHostDB:ENSG00000168137.15

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1844, Eukaryota
GeneTreeiENSGT00940000157446
InParanoidiQ9C0A6
OrthoDBi86638at2759
PhylomeDBiQ9C0A6
TreeFamiTF106417

Enzyme and pathway databases

PathwayCommonsiQ9C0A6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55209, 88 hits in 880 CRISPR screens

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

More...ChiTaRSi		SETD5, human

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

More...GenomeRNAii		55209
PharosiQ9C0A6, Tbio

Protein Ontology

More...PROi		PR:Q9C0A6
RNActiQ9C0A6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000168137, Expressed in intestine and 236 other tissues
ExpressionAtlasiQ9C0A6, baseline and differential
GenevisibleiQ9C0A6, HS

Family and domain databases

InterProiView protein in InterPro
IPR001214, SET_dom
PfamiView protein in Pfam
PF00856, SET, 1 hit
SMARTiView protein in SMART
SM00317, SET, 1 hit
PROSITEiView protein in PROSITE
PS50280, SET, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiSETD5_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: Q9C0A6
Secondary accession number(s): Q6AI17
, Q8WUB6, Q9H3X4, Q9H6V7, Q9H7S3, Q9NVI9
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: February 10, 2021
This is version 128 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

Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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