Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9NVD3

- SETD4_HUMAN

UniProt

Q9NVD3 - SETD4_HUMAN

Protein

SET domain-containing protein 4

Gene

SETD4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    GO - Molecular functioni

    1. methyltransferase activity Source: UniProtKB-KW

    Keywords - Molecular functioni

    Methyltransferase, Transferase

    Keywords - Ligandi

    S-adenosyl-L-methionine

    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
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:1258. SETD4.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25814.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 440440SET domain-containing protein 4PRO_0000079509Add
    BLAST

    Proteomic databases

    PaxDbiQ9NVD3.
    PRIDEiQ9NVD3.

    PTM databases

    PhosphoSiteiQ9NVD3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NVD3.
    BgeeiQ9NVD3.
    CleanExiHS_SETD4.
    GenevestigatoriQ9NVD3.

    Organism-specific databases

    HPAiHPA024073.

    Interactioni

    Protein-protein interaction databases

    BioGridi119892. 2 interactions.
    STRINGi9606.ENSP00000329189.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NVD3.
    SMRiQ9NVD3. Positions 59-332.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini48 – 273226SETPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG239522.
    HOGENOMiHOG000010303.
    HOVERGENiHBG051225.
    InParanoidiQ9NVD3.
    OMAiLWKPYLE.
    PhylomeDBiQ9NVD3.
    TreeFamiTF106421.

    Family and domain databases

    InterProiIPR016852. Lys_MTase_YDR198C_prd.
    IPR015353. Rubisco_LSMT_subst-bd.
    IPR001214. SET_dom.
    [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. Align

    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

    MQKGKGRTSR IRRRKLCGSS ESRGVNESHK SEFIELRKWL KARKFQDSNL    50
    APACFPGTGR GLMSQTSLQE GQMIISLPES CLLTTDTVIR SYLGAYITKW 100
    KPPPSPLLAL CTFLVSEKHA GHRSLWKPYL EILPKAYTCP VCLEPEVVNL 150
    LPKSLKAKAE EQRAHVQEFF ASSRDFFSSL QPLFAEAVDS IFSYSALLWA 200
    WCTVNTRAVY LRPRQRECLS AEPDTCALAP YLDLLNHSPH VQVKAAFNEE 250
    THSYEIRTTS RWRKHEEVFI CYGPHDNQRL FLEYGFVSVH NPHACVYVSR 300
    EILVKYLPST DKQMDKKISI LKDHGYIENL TFGWDGPSWR LLTALKLLCL 350
    EAEKFTCWKK VLLGEVISDT NEKTSLDIAQ KICYYFIEET NAVLQKVSHM 400
    KDEKEALINQ LTLVESLWTE ELKILRASAE TLHSLQTAFT 440
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti301 – 440140EILVK…QTAFT → GWNQLCS in AAH02898. (PubMed:15489334)CuratedAdd
    BLAST

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti387 – 3871I → V.
    Corresponds to variant rs2835239 [ dbSNP | Ensembl ].
    VAR_021948
    Natural varianti420 – 4201E → G in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035988

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2525MQKGK…ESRGV → M in isoform 3. 1 PublicationVSP_026578Add
    BLAST
    Alternative sequencei70 – 440371EGQMI…QTAFT → VEASSISSAGAVHLFSFRKA CWAPISLEALPGDFTQGVYL PCLFGAGSGEPSSQIFKSKG in isoform B. 2 PublicationsVSP_004146Add
    BLAST
    Alternative sequencei301 – 3077EILVKYL → GWNQLCS in isoform 4. 1 PublicationVSP_054087
    Alternative sequencei308 – 440133Missing in isoform 4. 1 PublicationVSP_054088Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    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_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]
    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.2. human. [Q9NVD3-1]
    uc002yux.2. human. [Q9NVD3-3]

    Polymorphism databases

    DMDMi12229715.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS13640.1. [Q9NVD3-1 ]
    CCDS42923.1. [Q9NVD3-4 ]
    RefSeqi NP_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 ]
    UniGenei Hs.606200.

    3D structure databases

    ProteinModelPortali Q9NVD3.
    SMRi Q9NVD3. Positions 59-332.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119892. 2 interactions.
    STRINGi 9606.ENSP00000329189.

    PTM databases

    PhosphoSitei Q9NVD3.

    Polymorphism databases

    DMDMi 12229715.

    Proteomic databases

    PaxDbi Q9NVD3.
    PRIDEi Q9NVD3.

    Protocols and materials databases

    DNASUi 54093.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000332131 ; ENSP00000329189 ; ENSG00000185917 . [Q9NVD3-1 ]
    ENST00000399207 ; ENSP00000382158 ; ENSG00000185917 . [Q9NVD3-4 ]
    ENST00000399208 ; ENSP00000382159 ; ENSG00000185917 . [Q9NVD3-4 ]
    ENST00000399212 ; ENSP00000382161 ; ENSG00000185917 . [Q9NVD3-3 ]
    ENST00000399215 ; ENSP00000382163 ; ENSG00000185917 . [Q9NVD3-1 ]
    GeneIDi 54093.
    KEGGi hsa:54093.
    UCSCi uc002yuw.2. human. [Q9NVD3-1 ]
    uc002yux.2. human. [Q9NVD3-3 ]

    Organism-specific databases

    CTDi 54093.
    GeneCardsi GC21M037406.
    H-InvDB HIX0019923.
    HIX0138443.
    HGNCi HGNC:1258. SETD4.
    HPAi HPA024073.
    neXtProti NX_Q9NVD3.
    PharmGKBi PA25814.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG239522.
    HOGENOMi HOG000010303.
    HOVERGENi HBG051225.
    InParanoidi Q9NVD3.
    OMAi LWKPYLE.
    PhylomeDBi Q9NVD3.
    TreeFami TF106421.

    Miscellaneous databases

    GenomeRNAii 54093.
    NextBioi 56432.
    PROi Q9NVD3.

    Gene expression databases

    ArrayExpressi Q9NVD3.
    Bgeei Q9NVD3.
    CleanExi HS_SETD4.
    Genevestigatori Q9NVD3.

    Family and domain databases

    InterProi IPR016852. Lys_MTase_YDR198C_prd.
    IPR015353. Rubisco_LSMT_subst-bd.
    IPR001214. SET_dom.
    [Graphical view ]
    Pfami PF09273. Rubis-subs-bind. 1 hit.
    PF00856. SET. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF027158. Lys_MTase_YDR198C_prd. 1 hit.
    PROSITEi PS50280. SET. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
    7. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-420.

    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: October 1, 2014
    This is version 113 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

    External Data

    Dasty 3