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Q9NVD3 (SETD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
SET domain-containing protein 4

EC=2.1.1.-
Gene names
Name:SETD4
Synonyms:C21orf18, C21orf27
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length440 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Belongs to the class V-like SAM-binding methyltransferase superfamily.

Contains 1 SET domain.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   LigandS-adenosyl-L-methionine
   Molecular functionMethyltransferase
Transferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionmethyltransferase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: Q9NVD3-1)

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.
Isoform B (identifier: Q9NVD3-2)

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.
Isoform 3 (identifier: Q9NVD3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MQKGKGRTSRIRRRKLCGSSESRGV → M
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9NVD3-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 440440SET domain-containing protein 4
PRO_0000079509

Regions

Domain48 – 273226SET

Natural variations

Alternative sequence1 – 2525MQKGK…ESRGV → M in isoform 3.
VSP_026578
Alternative sequence70 – 440371EGQMI…QTAFT → VEASSISSAGAVHLFSFRKA CWAPISLEALPGDFTQGVYL PCLFGAGSGEPSSQIFKSKG in isoform B.
VSP_004146
Alternative sequence301 – 3077EILVKYL → GWNQLCS in isoform 4.
VSP_054087
Alternative sequence308 – 440133Missing in isoform 4.
VSP_054088
Natural variant3871I → V.
Corresponds to variant rs2835239 [ dbSNP | Ensembl ].
VAR_021948
Natural variant4201E → G in a colorectal cancer sample; somatic mutation. Ref.7
VAR_035988

Experimental info

Sequence conflict301 – 440140EILVK…QTAFT → GWNQLCS in AAH02898. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform A [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 9EBCAA05397BE287

FASTA44050,416
        10         20         30         40         50         60 
MQKGKGRTSR IRRRKLCGSS ESRGVNESHK SEFIELRKWL KARKFQDSNL APACFPGTGR 

        70         80         90        100        110        120 
GLMSQTSLQE GQMIISLPES CLLTTDTVIR SYLGAYITKW KPPPSPLLAL CTFLVSEKHA 

       130        140        150        160        170        180 
GHRSLWKPYL EILPKAYTCP VCLEPEVVNL LPKSLKAKAE EQRAHVQEFF ASSRDFFSSL 

       190        200        210        220        230        240 
QPLFAEAVDS IFSYSALLWA WCTVNTRAVY LRPRQRECLS AEPDTCALAP YLDLLNHSPH 

       250        260        270        280        290        300 
VQVKAAFNEE THSYEIRTTS RWRKHEEVFI CYGPHDNQRL FLEYGFVSVH NPHACVYVSR 

       310        320        330        340        350        360 
EILVKYLPST DKQMDKKISI LKDHGYIENL TFGWDGPSWR LLTALKLLCL EAEKFTCWKK 

       370        380        390        400        410        420 
VLLGEVISDT NEKTSLDIAQ KICYYFIEET NAVLQKVSHM KDEKEALINQ LTLVESLWTE 

       430        440 
ELKILRASAE TLHSLQTAFT 

« Hide

Isoform B [UniParc].

Checksum: A1FDB90CB2CE8420
Show »

FASTA12914,013
Isoform 3 [UniParc].

Checksum: 63539282EE060837
Show »

FASTA41647,731
Isoform 4 [UniParc].

Checksum: 4B7520151BA3D9E6
Show »

FASTA30735,086

References

« Hide 'large scale' references
[1]"From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map."
Reymond A., Friedli M., Neergaard Henrichsen C., Chapot F., Deutsch S., Ucla C., Rossier C., Lyle R., Guipponi M., Antonarakis S.E.
Genomics 78:46-54(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B).
[3]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORMS A; 3 AND 4).
Tissue: Lung and Testis.
[6]"An unappreciated role for RNA surveillance."
Hillman R.T., Green R.E., Brenner S.E.
Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-420.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS13640.1. [Q9NVD3-1]
RefSeqNP_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_005261057.1. XM_005261000.1. [Q9NVD3-1]
XP_005261058.1. XM_005261001.2. [Q9NVD3-1]
XP_005261060.1. XM_005261003.1. [Q9NVD3-1]
XP_006724084.1. XM_006724021.1. [Q9NVD3-1]
UniGeneHs.606200.

3D structure databases

ProteinModelPortalQ9NVD3.
SMRQ9NVD3. Positions 59-332.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119892. 2 interactions.
STRING9606.ENSP00000329189.

PTM databases

PhosphoSiteQ9NVD3.

Polymorphism databases

DMDM12229715.

Proteomic databases

PaxDbQ9NVD3.
PRIDEQ9NVD3.

Protocols and materials databases

DNASU54093.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000332131; ENSP00000329189; ENSG00000185917. [Q9NVD3-1]
ENST00000399207; ENSP00000382158; ENSG00000185917.
ENST00000399208; ENSP00000382159; ENSG00000185917.
ENST00000399212; ENSP00000382161; ENSG00000185917. [Q9NVD3-3]
ENST00000399215; ENSP00000382163; ENSG00000185917. [Q9NVD3-1]
GeneID54093.
KEGGhsa:54093.
UCSCuc002yuw.2. human. [Q9NVD3-1]
uc002yux.2. human. [Q9NVD3-3]

Organism-specific databases

CTD54093.
GeneCardsGC21M037406.
H-InvDBHIX0019923.
HIX0138443.
HGNCHGNC:1258. SETD4.
HPAHPA024073.
neXtProtNX_Q9NVD3.
PharmGKBPA25814.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG239522.
HOGENOMHOG000010303.
HOVERGENHBG051225.
InParanoidQ9NVD3.
OMALWKPYLE.
PhylomeDBQ9NVD3.
TreeFamTF106421.

Gene expression databases

ArrayExpressQ9NVD3.
BgeeQ9NVD3.
CleanExHS_SETD4.
GenevestigatorQ9NVD3.

Family and domain databases

InterProIPR016852. Lys_MTase_YDR198C_prd.
IPR015353. Rubisco_LSMT_subst-bd.
IPR001214. SET_dom.
[Graphical view]
PfamPF09273. Rubis-subs-bind. 1 hit.
PF00856. SET. 1 hit.
[Graphical view]
PIRSFPIRSF027158. Lys_MTase_YDR198C_prd. 1 hit.
PROSITEPS50280. SET. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi54093.
NextBio56432.
PROQ9NVD3.

Entry information

Entry nameSETD4_HUMAN
AccessionPrimary (citable) accession number: Q9NVD3
Secondary accession number(s): B4DT14 expand/collapse secondary AC list , D3DSG2, D3DSG4, Q8NE19, Q9BU46
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM