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Protein

SET domain-containing protein 5

Gene

SETD5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
SET domain-containing protein 5
Gene namesi
Name:SETD5
Synonyms:KIAA1757
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:25566. SETD5.

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 23 (MRD23)1 Publication
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

Keywords - Diseasei

Autism, Autism spectrum disorder, Mental retardation

Organism-specific databases

MalaCardsiSETD5.
MIMi615761. phenotype.
Orphaneti404440. Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency.
PharmGKBiPA143485613.

Polymorphism and mutation databases

BioMutaiSETD5.
DMDMi143584285.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14421442SET domain-containing protein 5PRO_0000281905Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei72 – 721PhosphoserineCombined sources
Modified residuei829 – 8291PhosphoserineCombined sources
Modified residuei852 – 8521PhosphoserineBy similarity
Modified residuei855 – 8551PhosphothreonineBy similarity
Modified residuei1198 – 11981PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9C0A6.
MaxQBiQ9C0A6.
PaxDbiQ9C0A6.
PeptideAtlasiQ9C0A6.
PRIDEiQ9C0A6.

PTM databases

iPTMnetiQ9C0A6.
PhosphoSiteiQ9C0A6.

Expressioni

Gene expression databases

BgeeiENSG00000168137.
CleanExiHS_SETD5.
ExpressionAtlasiQ9C0A6. baseline and differential.
GenevisibleiQ9C0A6. HS.

Organism-specific databases

HPAiCAB017093.
HPA035574.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP70Q8NHQ13EBI-10303449,EBI-739624
KRT40Q6A1623EBI-10303449,EBI-10171697
MTUS2Q5JR593EBI-10303449,EBI-742948

Protein-protein interaction databases

BioGridi120505. 12 interactions.
IntActiQ9C0A6. 7 interactions.
MINTiMINT-1438438.
STRINGi9606.ENSP00000383939.

Structurei

3D structure databases

ProteinModelPortaliQ9C0A6.
SMRiQ9C0A6. Positions 276-411.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini269 – 390122SETPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1089 – 1411323Ser-richAdd
BLAST

Sequence similaritiesi

Contains 1 SET domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IMXD. Eukaryota.
ENOG410ZTNX. LUCA.
GeneTreeiENSGT00520000055602.
HOGENOMiHOG000154294.
HOVERGENiHBG068103.
InParanoidiQ9C0A6.
PhylomeDBiQ9C0A6.
TreeFamiTF106417.

Family and domain databases

InterProiIPR001214. SET_dom.
[Graphical view]
PfamiPF00856. SET. 1 hit.
[Graphical view]
SMARTiSM00317. SET. 1 hit.
[Graphical view]
PROSITEiPS50280. SET. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti369 – 3691I → N in CAH10497 (PubMed:17974005).Curated
Sequence conflicti869 – 8691A → V in CAH10497 (PubMed:17974005).Curated
Sequence conflicti985 – 9851Y → H in CAH10497 (PubMed:17974005).Curated
Sequence conflicti1123 – 11231P → S in BAB14903 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti77 – 771R → H.
Corresponds to variant rs41387348 [ dbSNP | Ensembl ].
VAR_051336
Natural varianti119 – 1191R → I.
Corresponds to variant rs11720526 [ dbSNP | Ensembl ].
VAR_051337
Natural varianti1137 – 11371M → V.
Corresponds to variant rs13327456 [ dbSNP | Ensembl ].
VAR_051338
Natural varianti1308 – 13081T → I.
Corresponds to variant rs11542009 [ dbSNP | Ensembl ].
VAR_061705

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 111111Missing in isoform 2 and isoform 3. 2 PublicationsVSP_024094Add
BLAST
Alternative sequencei188 – 1881I → IKAFREGSRKSLRM in isoform 3. 1 PublicationVSP_024095

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]
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

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]
UniGeneiHs.288164.

3D structure databases

ProteinModelPortaliQ9C0A6.
SMRiQ9C0A6. Positions 276-411.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120505. 12 interactions.
IntActiQ9C0A6. 7 interactions.
MINTiMINT-1438438.
STRINGi9606.ENSP00000383939.

PTM databases

iPTMnetiQ9C0A6.
PhosphoSiteiQ9C0A6.

Polymorphism and mutation databases

BioMutaiSETD5.
DMDMi143584285.

Proteomic databases

EPDiQ9C0A6.
MaxQBiQ9C0A6.
PaxDbiQ9C0A6.
PeptideAtlasiQ9C0A6.
PRIDEiQ9C0A6.

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.
GeneCardsiSETD5.
H-InvDBHIX0003027.
HGNCiHGNC:25566. SETD5.
HPAiCAB017093.
HPA035574.
MalaCardsiSETD5.
MIMi615743. gene.
615761. phenotype.
neXtProtiNX_Q9C0A6.
Orphaneti404440. 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.
PROiQ9C0A6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168137.
CleanExiHS_SETD5.
ExpressionAtlasiQ9C0A6. baseline and differential.
GenevisibleiQ9C0A6. HS.

Family and domain databases

InterProiIPR001214. SET_dom.
[Graphical view]
PfamiPF00856. SET. 1 hit.
[Graphical view]
SMARTiSM00317. SET. 1 hit.
[Graphical view]
PROSITEiPS50280. SET. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSETD5_HUMAN
AccessioniPrimary (citable) accession number: Q9C0A6
Secondary accession number(s): Q6AI17
, Q8WUB6, Q9H3X4, Q9H6V7, Q9H7S3, Q9NVI9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: September 7, 2016
This is version 98 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 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
  5. 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.