Human Gene SETD5 (ENST00000402198.7) from GENCODE V41
  Description: Homo sapiens SET domain containing 5 (SETD5), transcript variant 1, mRNA. (from RefSeq NM_001080517)
RefSeq Summary (NM_001080517): This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017].
Gencode Transcript: ENST00000402198.7
Gencode Gene: ENSG00000168137.20
Transcript (Including UTRs)
   Position: hg38 chr3:9,397,615-9,478,154 Size: 80,540 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg38 chr3:9,428,939-9,476,091 Size: 47,153 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2022-05-14 09:57:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:9,397,615-9,478,154)mRNA (may differ from genome)Protein (1442 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSCGAPEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMGIneXtProt
OMIMPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SETD5_HUMAN
DESCRIPTION: RecName: Full=SET domain-containing protein 5;
SIMILARITY: Contains 1 SET domain.
SEQUENCE CAUTION: Sequence=AAH20956.1; Type=Erroneous initiation; Sequence=BAA91762.1; Type=Erroneous initiation; Sequence=BAB14903.1; Type=Erroneous initiation; Sequence=BAB15144.1; Type=Erroneous initiation; Sequence=BAB21848.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: SETD5
Diseases sorted by gene-association score: mental retardation, autosomal dominant 23* (1680), cornelia de lange syndrome* (145), syndromic intellectual disability (7), intellectual disability (6), coffin-siris syndrome 1 (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.65 RPKM in Brain - Cerebellum
Total median expression: 766.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -215.20539-0.399 Picture PostScript Text
3' UTR -639.302063-0.310 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001214 - SET_dom

Pfam Domains:
PF00856 - SET domain

ModBase Predicted Comparative 3D Structure on Q9C0A6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0016569 covalent chromatin modification
GO:0035065 regulation of histone acetylation
GO:1902275 regulation of chromatin organization

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016593 Cdc73/Paf1 complex


-  Descriptions from all associated GenBank mRNAs
  BX648380 - Homo sapiens mRNA; cDNA DKFZp686A20205 (from clone DKFZp686A20205).
LF207333 - JP 2014500723-A/14836: Polycomb-Associated Non-Coding RNAs.
MA442910 - JP 2018138019-A/14836: Polycomb-Associated Non-Coding RNAs.
AK092046 - Homo sapiens cDNA FLJ34727 fis, clone MESAN2006043.
AX747332 - Sequence 857 from Patent EP1308459.
LF207334 - JP 2014500723-A/14837: Polycomb-Associated Non-Coding RNAs.
MA442911 - JP 2018138019-A/14837: Polycomb-Associated Non-Coding RNAs.
CR627408 - Homo sapiens mRNA; cDNA DKFZp686J18276 (from clone DKFZp686J18276).
AB051544 - Homo sapiens mRNA for KIAA1757 protein, partial cds.
AK091393 - Homo sapiens cDNA FLJ34074 fis, clone FCBBF3002925, highly similar to Mus musculus SET domain containing 5 (Setd5), mRNA.
AX746957 - Sequence 482 from Patent EP1308459.
AB384632 - Synthetic construct DNA, clone: pF1KA1757, Homo sapiens SETD5 gene for SET domain-containing protein 5, complete cds, without stop codon, in Flexi system.
MP015355 - Sequence 558 from Patent WO2019016252.
LF364983 - JP 2014500723-A/172486: Polycomb-Associated Non-Coding RNAs.
MA600560 - JP 2018138019-A/172486: Polycomb-Associated Non-Coding RNAs.
LF364984 - JP 2014500723-A/172487: Polycomb-Associated Non-Coding RNAs.
MA600561 - JP 2018138019-A/172487: Polycomb-Associated Non-Coding RNAs.
LF365003 - JP 2014500723-A/172506: Polycomb-Associated Non-Coding RNAs.
MA600580 - JP 2018138019-A/172506: Polycomb-Associated Non-Coding RNAs.
LF365005 - JP 2014500723-A/172508: Polycomb-Associated Non-Coding RNAs.
MA600582 - JP 2018138019-A/172508: Polycomb-Associated Non-Coding RNAs.
LF365006 - JP 2014500723-A/172509: Polycomb-Associated Non-Coding RNAs.
MA600583 - JP 2018138019-A/172509: Polycomb-Associated Non-Coding RNAs.
LF365007 - JP 2014500723-A/172510: Polycomb-Associated Non-Coding RNAs.
MA600584 - JP 2018138019-A/172510: Polycomb-Associated Non-Coding RNAs.
LF365012 - JP 2014500723-A/172515: Polycomb-Associated Non-Coding RNAs.
MA600589 - JP 2018138019-A/172515: Polycomb-Associated Non-Coding RNAs.
LF365015 - JP 2014500723-A/172518: Polycomb-Associated Non-Coding RNAs.
MA600592 - JP 2018138019-A/172518: Polycomb-Associated Non-Coding RNAs.
AK289529 - Homo sapiens cDNA FLJ77683 complete cds, highly similar to Homo sapiens SET domain containing 5, mRNA.
LF365017 - JP 2014500723-A/172520: Polycomb-Associated Non-Coding RNAs.
MA600594 - JP 2018138019-A/172520: Polycomb-Associated Non-Coding RNAs.
AK127298 - Homo sapiens cDNA FLJ45365 fis, clone BRHIP3016421, highly similar to Mus musculus SET domain containing 5 (Setd5), mRNA.
BC012558 - Homo sapiens SET domain containing 5, mRNA (cDNA clone IMAGE:4294687), with apparent retained intron.
LF365020 - JP 2014500723-A/172523: Polycomb-Associated Non-Coding RNAs.
MA600597 - JP 2018138019-A/172523: Polycomb-Associated Non-Coding RNAs.
LF365021 - JP 2014500723-A/172524: Polycomb-Associated Non-Coding RNAs.
MA600598 - JP 2018138019-A/172524: Polycomb-Associated Non-Coding RNAs.
BC020956 - Homo sapiens SET domain containing 5, mRNA (cDNA clone MGC:8816 IMAGE:3851178), complete cds.
AK001569 - Homo sapiens cDNA FLJ10707 fis, clone NT2RP3000859.
LF365023 - JP 2014500723-A/172526: Polycomb-Associated Non-Coding RNAs.
MA600600 - JP 2018138019-A/172526: Polycomb-Associated Non-Coding RNAs.
AK024384 - Homo sapiens cDNA FLJ14322 fis, clone PLACE4000063, weakly similar to GLUCOAMYLASE S1/S2 PRECURSOR (EC 3.2.1.3).
JD334954 - Sequence 315978 from Patent EP1572962.
JD455934 - Sequence 436958 from Patent EP1572962.
CU676784 - Synthetic construct Homo sapiens gateway clone IMAGE:100017509 5' read SETD5 mRNA.
KJ902789 - Synthetic construct Homo sapiens clone ccsbBroadEn_12183 SETD5 gene, encodes complete protein.
AL442073 - Homo sapiens mRNA; cDNA DKFZp761P157 (from clone DKFZp761P157).
LF365025 - JP 2014500723-A/172528: Polycomb-Associated Non-Coding RNAs.
MA600602 - JP 2018138019-A/172528: Polycomb-Associated Non-Coding RNAs.
LF365026 - JP 2014500723-A/172529: Polycomb-Associated Non-Coding RNAs.
MA600603 - JP 2018138019-A/172529: Polycomb-Associated Non-Coding RNAs.
LF365035 - JP 2014500723-A/172538: Polycomb-Associated Non-Coding RNAs.
MA600612 - JP 2018138019-A/172538: Polycomb-Associated Non-Coding RNAs.
AK025478 - Homo sapiens cDNA: FLJ21825 fis, clone HEP01348.
LF365046 - JP 2014500723-A/172549: Polycomb-Associated Non-Coding RNAs.
MA600623 - JP 2018138019-A/172549: Polycomb-Associated Non-Coding RNAs.
LF365047 - JP 2014500723-A/172550: Polycomb-Associated Non-Coding RNAs.
MA600624 - JP 2018138019-A/172550: Polycomb-Associated Non-Coding RNAs.
LF365052 - JP 2014500723-A/172555: Polycomb-Associated Non-Coding RNAs.
MA600629 - JP 2018138019-A/172555: Polycomb-Associated Non-Coding RNAs.
LF365055 - JP 2014500723-A/172558: Polycomb-Associated Non-Coding RNAs.
MA600632 - JP 2018138019-A/172558: Polycomb-Associated Non-Coding RNAs.
LF365056 - JP 2014500723-A/172559: Polycomb-Associated Non-Coding RNAs.
MA600633 - JP 2018138019-A/172559: Polycomb-Associated Non-Coding RNAs.
AK094975 - Homo sapiens cDNA FLJ37656 fis, clone BRHIP2010487.
LF365057 - JP 2014500723-A/172560: Polycomb-Associated Non-Coding RNAs.
MA600634 - JP 2018138019-A/172560: Polycomb-Associated Non-Coding RNAs.
LF365059 - JP 2014500723-A/172562: Polycomb-Associated Non-Coding RNAs.
MA600636 - JP 2018138019-A/172562: Polycomb-Associated Non-Coding RNAs.
LF365061 - JP 2014500723-A/172564: Polycomb-Associated Non-Coding RNAs.
MA600638 - JP 2018138019-A/172564: Polycomb-Associated Non-Coding RNAs.
LF365062 - JP 2014500723-A/172565: Polycomb-Associated Non-Coding RNAs.
MA600639 - JP 2018138019-A/172565: Polycomb-Associated Non-Coding RNAs.
LF365063 - JP 2014500723-A/172566: Polycomb-Associated Non-Coding RNAs.
MA600640 - JP 2018138019-A/172566: Polycomb-Associated Non-Coding RNAs.
JD402213 - Sequence 383237 from Patent EP1572962.
LF365064 - JP 2014500723-A/172567: Polycomb-Associated Non-Coding RNAs.
MA600641 - JP 2018138019-A/172567: Polycomb-Associated Non-Coding RNAs.
JD133189 - Sequence 114213 from Patent EP1572962.
JD082322 - Sequence 63346 from Patent EP1572962.
JD376399 - Sequence 357423 from Patent EP1572962.
LF365065 - JP 2014500723-A/172568: Polycomb-Associated Non-Coding RNAs.
MA600642 - JP 2018138019-A/172568: Polycomb-Associated Non-Coding RNAs.
JD380389 - Sequence 361413 from Patent EP1572962.
JD427949 - Sequence 408973 from Patent EP1572962.
JD054198 - Sequence 35222 from Patent EP1572962.
LF365066 - JP 2014500723-A/172569: Polycomb-Associated Non-Coding RNAs.
MA600643 - JP 2018138019-A/172569: Polycomb-Associated Non-Coding RNAs.
JD447828 - Sequence 428852 from Patent EP1572962.
LF365067 - JP 2014500723-A/172570: Polycomb-Associated Non-Coding RNAs.
MA600644 - JP 2018138019-A/172570: Polycomb-Associated Non-Coding RNAs.
JD428160 - Sequence 409184 from Patent EP1572962.
JD274118 - Sequence 255142 from Patent EP1572962.
JD229889 - Sequence 210913 from Patent EP1572962.
JD438365 - Sequence 419389 from Patent EP1572962.
JD454040 - Sequence 435064 from Patent EP1572962.
JD402900 - Sequence 383924 from Patent EP1572962.
JD061149 - Sequence 42173 from Patent EP1572962.
LF365068 - JP 2014500723-A/172571: Polycomb-Associated Non-Coding RNAs.
MA600645 - JP 2018138019-A/172571: Polycomb-Associated Non-Coding RNAs.
JD360249 - Sequence 341273 from Patent EP1572962.
LF365069 - JP 2014500723-A/172572: Polycomb-Associated Non-Coding RNAs.
MA600646 - JP 2018138019-A/172572: Polycomb-Associated Non-Coding RNAs.
JD221210 - Sequence 202234 from Patent EP1572962.
LF365070 - JP 2014500723-A/172573: Polycomb-Associated Non-Coding RNAs.
MA600647 - JP 2018138019-A/172573: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000402198.1, ENST00000402198.2, ENST00000402198.3, ENST00000402198.4, ENST00000402198.5, ENST00000402198.6, KIAA1757, NM_001080517, Q6AI17, Q8WUB6, Q9C0A6, Q9H3X4, Q9H6V7, Q9H7S3, Q9NVI9, SETD5_HUMAN, uc003brt.1, uc003brt.2, uc003brt.3, uc003brt.4
UCSC ID: ENST00000402198.7
RefSeq Accession: NM_001080517
Protein: Q9C0A6 (aka SETD5_HUMAN)
CCDS: CCDS46741.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.