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Protein

SET domain-containing protein 9

Gene

SETD9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei294S-adenosyl-L-methioninePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMethyltransferase, Transferase
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

ReactomeiR-HSA-6804760. Regulation of TP53 Activity through Methylation.

Names & Taxonomyi

Protein namesi
Recommended name:
SET domain-containing protein 9 (EC:2.1.1.-)
Gene namesi
Name:SETD9
Synonyms:C5orf35
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000155542.11.
HGNCiHGNC:28508. SETD9.

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

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000155542.
PharmGKBiPA162380099.

Polymorphism and mutation databases

BioMutaiSETD9.
DMDMi296434439.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003004961 – 299SET domain-containing protein 9Add BLAST299

Proteomic databases

MaxQBiQ8NE22.
PaxDbiQ8NE22.
PeptideAtlasiQ8NE22.
PRIDEiQ8NE22.

PTM databases

iPTMnetiQ8NE22.
PhosphoSitePlusiQ8NE22.

Expressioni

Gene expression databases

BgeeiENSG00000155542.
CleanExiHS_C5orf35.
ExpressionAtlasiQ8NE22. baseline and differential.
GenevisibleiQ8NE22. HS.

Organism-specific databases

HPAiHPA049936.

Interactioni

Protein-protein interaction databases

BioGridi126356. 4 interactors.
IntActiQ8NE22. 2 interactors.
STRINGi9606.ENSP00000285947.

Structurei

3D structure databases

ProteinModelPortaliQ8NE22.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini122 – 295SETPROSITE-ProRule annotationAdd BLAST174

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IFS9. Eukaryota.
ENOG4110P78. LUCA.
GeneTreeiENSGT00390000001437.
HOGENOMiHOG000007100.
HOVERGENiHBG104313.
InParanoidiQ8NE22.
OMAiWQRWRRY.
OrthoDBiEOG091G0QXF.
PhylomeDBiQ8NE22.
TreeFamiTF314670.

Family and domain databases

InterProiView protein in InterPro
IPR001214. SET_dom.
PROSITEiView protein in PROSITE
PS50280. SET. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NE22-1) [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
MPGRLLRGLW QRWRRYKYRF VPWIALNLSH NPRTLRYVPE ESKDKVISDE
60 70 80 90 100
DVLGTLLKVF QALFLNDFNK QSEILSMLPE SVKSKYQDLL AVEHQGVKLL
110 120 130 140 150
ENRHQQQSTF KPEEILYKTL GFSVAQATSS LISAGKGVFV TKGLVPKGAV
160 170 180 190 200
VSMYPGTVYQ KYEPIFFQSI GNPFIFRCLD GVLIDGNDKG ISKVVYRSCN
210 220 230 240 250
GRDRLGPLKM SDSTWLTSEI HNPLAVGQYV NNCSNDRAAN VCYQEFDVPA
260 270 280 290
VFPIELKQYL PNIAYSYDKQ SPLRCVVLVA LRDINQGEEL FSNYYTIVS
Length:299
Mass (Da):34,095
Last modified:May 18, 2010 - v2
Checksum:i0CF616C68EDF2DC8
GO
Isoform 2 (identifier: Q8NE22-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     271-271: S → R
     272-299: Missing.

Note: No experimental confirmation available.
Show »
Length:271
Mass (Da):30,970
Checksum:i49AFF61786ADB4E5
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti100L → R in AAH36528 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03487576S → T1 PublicationCorresponds to variant dbSNP:rs2257505Ensembl.1
Natural variantiVAR_034876209K → E. Corresponds to variant dbSNP:rs40497Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043790271S → R in isoform 2. Curated1
Alternative sequenceiVSP_043791272 – 299Missing in isoform 2. CuratedAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC008937 Genomic DNA. No translation available.
BC036528 mRNA. Translation: AAH36528.1.
CCDSiCCDS3972.1. [Q8NE22-1]
RefSeqiNP_001165461.1. NM_001171990.2. [Q8NE22-2]
NP_714917.2. NM_153706.3. [Q8NE22-1]
UniGeneiHs.85950.

Genome annotation databases

EnsembliENST00000285947; ENSP00000285947; ENSG00000155542. [Q8NE22-1]
ENST00000628593; ENSP00000486609; ENSG00000155542. [Q8NE22-2]
GeneIDi133383.
KEGGihsa:133383.
UCSCiuc003jqx.4. human. [Q8NE22-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSETD9_HUMAN
AccessioniPrimary (citable) accession number: Q8NE22
Secondary accession number(s): F5H713
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: September 27, 2017
This is version 95 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families