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Protein

SET domain-containing protein 9

Gene

SETD9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei294 – 2941S-adenosyl-L-methioninePROSITE-ProRule annotation

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Keywords - Ligandi

S-adenosyl-L-methionine

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

HGNCiHGNC:28508. SETD9.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162380099.

Polymorphism and mutation databases

BioMutaiSETD9.
DMDMi296434439.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 299299SET domain-containing protein 9PRO_0000300496Add
BLAST

Proteomic databases

MaxQBiQ8NE22.
PaxDbiQ8NE22.
PRIDEiQ8NE22.

Expressioni

Gene expression databases

BgeeiQ8NE22.
CleanExiHS_C5orf35.
ExpressionAtlasiQ8NE22. baseline and differential.
GenevisibleiQ8NE22. HS.

Organism-specific databases

HPAiHPA049936.

Interactioni

Protein-protein interaction databases

BioGridi126356. 4 interactions.
IntActiQ8NE22. 2 interactions.
STRINGi9606.ENSP00000285947.

Structurei

3D structure databases

ProteinModelPortaliQ8NE22.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini122 – 295174SETPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily.PROSITE-ProRule annotation
Contains 1 SET domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IFS9. Eukaryota.
ENOG4110P78. LUCA.
GeneTreeiENSGT00390000001437.
HOGENOMiHOG000007100.
HOVERGENiHBG104313.
InParanoidiQ8NE22.
OMAiWQRWRRY.
OrthoDBiEOG7TTQ99.
PhylomeDBiQ8NE22.
TreeFamiTF314670.

Family and domain databases

InterProiIPR001214. SET_dom.
[Graphical view]
PROSITEiPS50280. SET. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti100 – 1001L → R in AAH36528 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761S → T.1 Publication
Corresponds to variant rs2257505 [ dbSNP | Ensembl ].
VAR_034875
Natural varianti209 – 2091K → E.
Corresponds to variant rs40497 [ dbSNP | Ensembl ].
VAR_034876

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei271 – 2711S → R in isoform 2. CuratedVSP_043790
Alternative sequencei272 – 29928Missing in isoform 2. CuratedVSP_043791Add
BLAST

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_001171990.1. [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

Cross-referencesi

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_001171990.1. [Q8NE22-2]
NP_714917.2. NM_153706.3. [Q8NE22-1]
UniGeneiHs.85950.

3D structure databases

ProteinModelPortaliQ8NE22.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126356. 4 interactions.
IntActiQ8NE22. 2 interactions.
STRINGi9606.ENSP00000285947.

Polymorphism and mutation databases

BioMutaiSETD9.
DMDMi296434439.

Proteomic databases

MaxQBiQ8NE22.
PaxDbiQ8NE22.
PRIDEiQ8NE22.

Protocols and materials databases

DNASUi133383.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi133383.
GeneCardsiSETD9.
HGNCiHGNC:28508. SETD9.
HPAiHPA049936.
neXtProtiNX_Q8NE22.
PharmGKBiPA162380099.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFS9. Eukaryota.
ENOG4110P78. LUCA.
GeneTreeiENSGT00390000001437.
HOGENOMiHOG000007100.
HOVERGENiHBG104313.
InParanoidiQ8NE22.
OMAiWQRWRRY.
OrthoDBiEOG7TTQ99.
PhylomeDBiQ8NE22.
TreeFamiTF314670.

Miscellaneous databases

GenomeRNAii133383.
NextBioi83206.
PROiQ8NE22.

Gene expression databases

BgeeiQ8NE22.
CleanExiHS_C5orf35.
ExpressionAtlasiQ8NE22. baseline and differential.
GenevisibleiQ8NE22. HS.

Family and domain databases

InterProiIPR001214. SET_dom.
[Graphical view]
PROSITEiPS50280. SET. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-76.
    Tissue: Testis.

Entry informationi

Entry nameiSETD9_HUMAN
AccessioniPrimary (citable) accession number: Q8NE22
Secondary accession number(s): F5H713
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: May 11, 2016
This is version 87 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.