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Protein

SET domain-containing protein 4

Gene

SETD4

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

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Keywords - Ligandi

S-adenosyl-L-methionine

Enzyme and pathway databases

BioCyciZFISH:G66-32584-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
SET domain-containing protein 4 (EC:2.1.1.-)
Gene namesi
Name:SETD4
Synonyms:C21orf18, C21orf27
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:1258. SETD4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi54093.
OpenTargetsiENSG00000185917.
PharmGKBiPA25814.

Polymorphism and mutation databases

DMDMi12229715.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000795091 – 440SET domain-containing protein 4Add BLAST440

Proteomic databases

PaxDbiQ9NVD3.
PeptideAtlasiQ9NVD3.
PRIDEiQ9NVD3.

PTM databases

iPTMnetiQ9NVD3.
PhosphoSitePlusiQ9NVD3.

Expressioni

Gene expression databases

BgeeiENSG00000185917.
CleanExiHS_SETD4.
ExpressionAtlasiQ9NVD3. baseline and differential.
GenevisibleiQ9NVD3. HS.

Organism-specific databases

HPAiHPA024073.
HPA035405.

Interactioni

Protein-protein interaction databases

BioGridi119892. 10 interactors.
IntActiQ9NVD3. 6 interactors.
STRINGi9606.ENSP00000329189.

Structurei

3D structure databases

ProteinModelPortaliQ9NVD3.
SMRiQ9NVD3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini48 – 273SETPROSITE-ProRule annotationAdd BLAST226

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG1337. Eukaryota.
ENOG410Y7DR. LUCA.
GeneTreeiENSGT00850000132409.
HOGENOMiHOG000010303.
HOVERGENiHBG051225.
InParanoidiQ9NVD3.
OMAiTHSYEIR.
OrthoDBiEOG091G08LO.
PhylomeDBiQ9NVD3.
TreeFamiTF106421.

Family and domain databases

InterProiIPR015353. Rubisco_LSMT_subst-bd.
IPR001214. SET_dom.
IPR016852. SET_MeTrfase.
[Graphical view]
PfamiPF09273. Rubis-subs-bind. 1 hit.
PF00856. SET. 1 hit.
[Graphical view]
PIRSFiPIRSF027158. Lys_MTase_YDR198C_prd. 1 hit.
PROSITEiPS50280. SET. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform A (identifier: Q9NVD3-1) [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
MQKGKGRTSR IRRRKLCGSS ESRGVNESHK SEFIELRKWL KARKFQDSNL
60 70 80 90 100
APACFPGTGR GLMSQTSLQE GQMIISLPES CLLTTDTVIR SYLGAYITKW
110 120 130 140 150
KPPPSPLLAL CTFLVSEKHA GHRSLWKPYL EILPKAYTCP VCLEPEVVNL
160 170 180 190 200
LPKSLKAKAE EQRAHVQEFF ASSRDFFSSL QPLFAEAVDS IFSYSALLWA
210 220 230 240 250
WCTVNTRAVY LRPRQRECLS AEPDTCALAP YLDLLNHSPH VQVKAAFNEE
260 270 280 290 300
THSYEIRTTS RWRKHEEVFI CYGPHDNQRL FLEYGFVSVH NPHACVYVSR
310 320 330 340 350
EILVKYLPST DKQMDKKISI LKDHGYIENL TFGWDGPSWR LLTALKLLCL
360 370 380 390 400
EAEKFTCWKK VLLGEVISDT NEKTSLDIAQ KICYYFIEET NAVLQKVSHM
410 420 430 440
KDEKEALINQ LTLVESLWTE ELKILRASAE TLHSLQTAFT
Length:440
Mass (Da):50,416
Last modified:October 1, 2000 - v1
Checksum:i9EBCAA05397BE287
GO
Isoform B (identifier: Q9NVD3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-440: EGQMIISLPE...TLHSLQTAFT → VEASSISSAG...PSSQIFKSKG

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:129
Mass (Da):14,013
Checksum:iA1FDB90CB2CE8420
GO
Isoform 3 (identifier: Q9NVD3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MQKGKGRTSRIRRRKLCGSSESRGV → M

Note: No experimental confirmation available.
Show »
Length:416
Mass (Da):47,731
Checksum:i63539282EE060837
GO
Isoform 4 (identifier: Q9NVD3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     301-307: EILVKYL → GWNQLCS
     308-440: Missing.

Show »
Length:307
Mass (Da):35,086
Checksum:i4B7520151BA3D9E6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti301 – 440EILVK…QTAFT → GWNQLCS in AAH02898 (PubMed:15489334).CuratedAdd BLAST140

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021948387I → V.Corresponds to variant rs2835239dbSNPEnsembl.1
Natural variantiVAR_035988420E → G in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0265781 – 25MQKGK…ESRGV → M in isoform 3. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_00414670 – 440EGQMI…QTAFT → VEASSISSAGAVHLFSFRKA CWAPISLEALPGDFTQGVYL PCLFGAGSGEPSSQIFKSKG in isoform B. 2 PublicationsAdd BLAST371
Alternative sequenceiVSP_054087301 – 307EILVKYL → GWNQLCS in isoform 4. 1 Publication7
Alternative sequenceiVSP_054088308 – 440Missing in isoform 4. 1 PublicationAdd BLAST133

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF391112 mRNA. Translation: AAL34503.1.
AK001660 mRNA. Translation: BAA91819.1.
AK300009 mRNA. Translation: BAG61826.1.
AP000688 Genomic DNA. No translation available.
CH471079 Genomic DNA. Translation: EAX09757.1.
CH471079 Genomic DNA. Translation: EAX09758.1.
CH471079 Genomic DNA. Translation: EAX09759.1.
CH471079 Genomic DNA. Translation: EAX09760.1.
CH471079 Genomic DNA. Translation: EAX09762.1.
BC002898 mRNA. Translation: AAH02898.1.
BC036556 mRNA. Translation: AAH36556.1.
CCDSiCCDS13640.1. [Q9NVD3-1]
CCDS42923.1. [Q9NVD3-4]
CCDS74792.1. [Q9NVD3-3]
RefSeqiNP_001007260.1. NM_001007259.2. [Q9NVD3-4]
NP_001007262.1. NM_001007261.2.
NP_001273681.1. NM_001286752.1.
NP_059134.1. NM_017438.4. [Q9NVD3-1]
XP_011527938.1. XM_011529636.1. [Q9NVD3-1]
XP_011527939.1. XM_011529637.1. [Q9NVD3-1]
XP_011527940.1. XM_011529638.2. [Q9NVD3-1]
XP_011527941.1. XM_011529639.1. [Q9NVD3-1]
XP_011527942.1. XM_011529640.2. [Q9NVD3-1]
XP_011527944.1. XM_011529642.1. [Q9NVD3-3]
XP_011527945.1. XM_011529643.1. [Q9NVD3-3]
XP_011527946.1. XM_011529644.1. [Q9NVD3-3]
XP_016883892.1. XM_017028403.1. [Q9NVD3-1]
XP_016883893.1. XM_017028404.1. [Q9NVD3-3]
XP_016883894.1. XM_017028405.1. [Q9NVD3-4]
UniGeneiHs.606200.

Genome annotation databases

EnsembliENST00000332131; ENSP00000329189; ENSG00000185917. [Q9NVD3-1]
ENST00000399207; ENSP00000382158; ENSG00000185917. [Q9NVD3-4]
ENST00000399208; ENSP00000382159; ENSG00000185917. [Q9NVD3-4]
ENST00000399212; ENSP00000382161; ENSG00000185917. [Q9NVD3-3]
ENST00000399215; ENSP00000382163; ENSG00000185917. [Q9NVD3-1]
GeneIDi54093.
KEGGihsa:54093.
UCSCiuc002yuw.3. human. [Q9NVD3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF391112 mRNA. Translation: AAL34503.1.
AK001660 mRNA. Translation: BAA91819.1.
AK300009 mRNA. Translation: BAG61826.1.
AP000688 Genomic DNA. No translation available.
CH471079 Genomic DNA. Translation: EAX09757.1.
CH471079 Genomic DNA. Translation: EAX09758.1.
CH471079 Genomic DNA. Translation: EAX09759.1.
CH471079 Genomic DNA. Translation: EAX09760.1.
CH471079 Genomic DNA. Translation: EAX09762.1.
BC002898 mRNA. Translation: AAH02898.1.
BC036556 mRNA. Translation: AAH36556.1.
CCDSiCCDS13640.1. [Q9NVD3-1]
CCDS42923.1. [Q9NVD3-4]
CCDS74792.1. [Q9NVD3-3]
RefSeqiNP_001007260.1. NM_001007259.2. [Q9NVD3-4]
NP_001007262.1. NM_001007261.2.
NP_001273681.1. NM_001286752.1.
NP_059134.1. NM_017438.4. [Q9NVD3-1]
XP_011527938.1. XM_011529636.1. [Q9NVD3-1]
XP_011527939.1. XM_011529637.1. [Q9NVD3-1]
XP_011527940.1. XM_011529638.2. [Q9NVD3-1]
XP_011527941.1. XM_011529639.1. [Q9NVD3-1]
XP_011527942.1. XM_011529640.2. [Q9NVD3-1]
XP_011527944.1. XM_011529642.1. [Q9NVD3-3]
XP_011527945.1. XM_011529643.1. [Q9NVD3-3]
XP_011527946.1. XM_011529644.1. [Q9NVD3-3]
XP_016883892.1. XM_017028403.1. [Q9NVD3-1]
XP_016883893.1. XM_017028404.1. [Q9NVD3-3]
XP_016883894.1. XM_017028405.1. [Q9NVD3-4]
UniGeneiHs.606200.

3D structure databases

ProteinModelPortaliQ9NVD3.
SMRiQ9NVD3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119892. 10 interactors.
IntActiQ9NVD3. 6 interactors.
STRINGi9606.ENSP00000329189.

PTM databases

iPTMnetiQ9NVD3.
PhosphoSitePlusiQ9NVD3.

Polymorphism and mutation databases

DMDMi12229715.

Proteomic databases

PaxDbiQ9NVD3.
PeptideAtlasiQ9NVD3.
PRIDEiQ9NVD3.

Protocols and materials databases

DNASUi54093.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332131; ENSP00000329189; ENSG00000185917. [Q9NVD3-1]
ENST00000399207; ENSP00000382158; ENSG00000185917. [Q9NVD3-4]
ENST00000399208; ENSP00000382159; ENSG00000185917. [Q9NVD3-4]
ENST00000399212; ENSP00000382161; ENSG00000185917. [Q9NVD3-3]
ENST00000399215; ENSP00000382163; ENSG00000185917. [Q9NVD3-1]
GeneIDi54093.
KEGGihsa:54093.
UCSCiuc002yuw.3. human. [Q9NVD3-1]

Organism-specific databases

CTDi54093.
DisGeNETi54093.
GeneCardsiSETD4.
H-InvDBHIX0019923.
HIX0138443.
HGNCiHGNC:1258. SETD4.
HPAiHPA024073.
HPA035405.
neXtProtiNX_Q9NVD3.
OpenTargetsiENSG00000185917.
PharmGKBiPA25814.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1337. Eukaryota.
ENOG410Y7DR. LUCA.
GeneTreeiENSGT00850000132409.
HOGENOMiHOG000010303.
HOVERGENiHBG051225.
InParanoidiQ9NVD3.
OMAiTHSYEIR.
OrthoDBiEOG091G08LO.
PhylomeDBiQ9NVD3.
TreeFamiTF106421.

Enzyme and pathway databases

BioCyciZFISH:G66-32584-MONOMER.

Miscellaneous databases

ChiTaRSiSETD4. human.
GenomeRNAii54093.
PROiQ9NVD3.

Gene expression databases

BgeeiENSG00000185917.
CleanExiHS_SETD4.
ExpressionAtlasiQ9NVD3. baseline and differential.
GenevisibleiQ9NVD3. HS.

Family and domain databases

InterProiIPR015353. Rubisco_LSMT_subst-bd.
IPR001214. SET_dom.
IPR016852. SET_MeTrfase.
[Graphical view]
PfamiPF09273. Rubis-subs-bind. 1 hit.
PF00856. SET. 1 hit.
[Graphical view]
PIRSFiPIRSF027158. Lys_MTase_YDR198C_prd. 1 hit.
PROSITEiPS50280. SET. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSETD4_HUMAN
AccessioniPrimary (citable) accession number: Q9NVD3
Secondary accession number(s): B4DT14
, D3DSG2, D3DSG4, Q8NE19, Q9BU46
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: November 2, 2016
This is version 133 of the entry and version 1 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 21
    Human chromosome 21: 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.