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UniProtKB - Q9C0A6 (SETD5_HUMAN)

Protein

SET domain-containing protein 5

Gene

SETD5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable transcriptional regulator that acts via the formation of large multiprotein complexes that modify and/or remodel the chromatin. Acts as a regulator of histone acetylation during gene transcription.By similarity

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionChromatin regulator
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
SET domain-containing protein 5Curated
Gene namesi
Name:SETD5Imported
Synonyms:KIAA17571 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000168137.15
HGNCiHGNC:25566 SETD5
MIMi615743 gene
neXtProtiNX_Q9C0A6

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 23 (MRD23)4 Publications
The disease is caused by mutations 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.
See also OMIM:615761
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_078958768 – 1442Missing in MRD23. 1 PublicationCorresponds to variant dbSNP:rs864321657Add BLAST675
Natural variantiVAR_078959973 – 1442Missing in MRD23. 1 PublicationAdd BLAST470
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 mutation, Mental retardation

Organism-specific databases

DisGeNETi55209
MalaCardsiSETD5
MIMi615761 phenotype
OpenTargetsiENSG00000168137
Orphaneti199 Cornelia de Lange syndrome
404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
PharmGKBiPA143485613

Polymorphism and mutation databases

BioMutaiSETD5
DMDMi143584285

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002819051 – 1442SET domain-containing protein 5Add BLAST1442

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei72PhosphoserineCombined sources1
Modified residuei829PhosphoserineCombined sources1
Modified residuei852PhosphoserineBy similarity1
Modified residuei855PhosphothreonineBy similarity1
Modified residuei1198PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ9C0A6
PhosphoSitePlusiQ9C0A6

Expressioni

Gene expression databases

BgeeiENSG00000168137 Expressed in 227 organ(s), highest expression level in intestine
CleanExiHS_SETD5
ExpressionAtlasiQ9C0A6 baseline and differential
GenevisibleiQ9C0A6 HS

Organism-specific databases

HPAiCAB017093
HPA035574

Interactioni

Subunit structurei

Interacts with components of the PAF1 complex (PAF1C) such as LEO1, CTR9 and CDC73. Interacts with NCOR1.By similarity

Binary interactionsi

Protein-protein interaction databases

BioGridi120505, 15 interactors
IntActiQ9C0A6, 13 interactors
STRINGi9606.ENSP00000383939

Structurei

3D structure databases

ProteinModelPortaliQ9C0A6
SMRiQ9C0A6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini269 – 390SETPROSITE-ProRule annotationAdd BLAST122

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1089 – 1411Ser-richAdd BLAST323

Phylogenomic databases

eggNOGiENOG410IMXD Eukaryota
ENOG410ZTNX LUCA
GeneTreeiENSGT00520000055602
HOGENOMiHOG000154294
HOVERGENiHBG068103
InParanoidiQ9C0A6
PhylomeDBiQ9C0A6
TreeFamiTF106417

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

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 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 '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
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
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.

Note: No experimental confirmation available.
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

Note: No experimental confirmation available.
Show »
Length:1,344
Mass (Da):147,354
Checksum:i6B931746D5ACC252
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EWN3E7EWN3_HUMAN
SET domain-containing protein 5
SETD5
1,461Annotation score:
H0Y3R4H0Y3R4_HUMAN
SET domain-containing protein 5
SETD5
911Annotation score:
H7C1Q2H7C1Q2_HUMAN
SET domain-containing protein 5
SETD5
177Annotation score:
C9JLA7C9JLA7_HUMAN
SET domain-containing protein 5
SETD5
162Annotation score:
C9JLM1C9JLM1_HUMAN
SET domain-containing protein 5
SETD5
170Annotation score:
H7C1F2H7C1F2_HUMAN
SET domain-containing protein 5
SETD5
441Annotation score:
F8WD12F8WD12_HUMAN
SET domain-containing protein 5
SETD5
65Annotation score:
F2Z2J0F2Z2J0_HUMAN
SET domain-containing protein 5
SETD5
52Annotation score:

Sequence cautioni

The sequence AAH20956 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91762 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14903 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15144 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB21848 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs41387348Ensembl.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_078958768 – 1442Missing in MRD23. 1 PublicationCorresponds to variant dbSNP:rs864321657Add BLAST675
Natural variantiVAR_078959973 – 1442Missing in MRD23. 1 PublicationAdd BLAST470
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
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:
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
UniGeneiHs.288164

Genome annotation databases

EnsembliENST00000302463; ENSP00000302028; ENSG00000168137 [Q9C0A6-3]
ENST00000402198; ENSP00000385852; ENSG00000168137 [Q9C0A6-1]
ENST00000406341; ENSP00000383939; ENSG00000168137 [Q9C0A6-1]
GeneIDi55209
KEGGihsa:55209
UCSCiuc003brt.3 human [Q9C0A6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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
UniGeneiHs.288164

3D structure databases

ProteinModelPortaliQ9C0A6
SMRiQ9C0A6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120505, 15 interactors
IntActiQ9C0A6, 13 interactors
STRINGi9606.ENSP00000383939

PTM databases

iPTMnetiQ9C0A6
PhosphoSitePlusiQ9C0A6

Polymorphism and mutation databases

BioMutaiSETD5
DMDMi143584285

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302463; ENSP00000302028; ENSG00000168137 [Q9C0A6-3]
ENST00000402198; ENSP00000385852; ENSG00000168137 [Q9C0A6-1]
ENST00000406341; ENSP00000383939; ENSG00000168137 [Q9C0A6-1]
GeneIDi55209
KEGGihsa:55209
UCSCiuc003brt.3 human [Q9C0A6-1]

Organism-specific databases

CTDi55209
DisGeNETi55209
EuPathDBiHostDB:ENSG00000168137.15
GeneCardsiSETD5
H-InvDBiHIX0003027
HGNCiHGNC:25566 SETD5
HPAiCAB017093
HPA035574
MalaCardsiSETD5
MIMi615743 gene
615761 phenotype
neXtProtiNX_Q9C0A6
OpenTargetsiENSG00000168137
Orphaneti199 Cornelia de Lange syndrome
404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
PharmGKBiPA143485613
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IMXD Eukaryota
ENOG410ZTNX LUCA
GeneTreeiENSGT00520000055602
HOGENOMiHOG000154294
HOVERGENiHBG068103
InParanoidiQ9C0A6
PhylomeDBiQ9C0A6
TreeFamiTF106417

Miscellaneous databases

ChiTaRSiSETD5 human
GenomeRNAii55209
PROiPR:Q9C0A6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168137 Expressed in 227 organ(s), highest expression level in intestine
CleanExiHS_SETD5
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
ProtoNetiSearch...

Entry informationi

Entry nameiSETD5_HUMAN
AccessioniPrimary (citable) accession number: Q9C0A6
Secondary accession number(s): Q6AI17
, Q8WUB6, Q9H3X4, Q9H6V7, Q9H7S3, Q9NVI9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: November 7, 2018
This is version 112 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 3
    Human chromosome 3: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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