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    SMYD1 SET and MYND domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 150572, updated on 8-Dec-2022

    Summary

    Official Symbol
    SMYD1provided by HGNC
    Official Full Name
    SET and MYND domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:20986
    See related
    Ensembl:ENSG00000115593 MIM:606846; AllianceGenome:HGNC:20986
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BOP; KMT3D; ZMYND18; ZMYND22
    Summary
    Predicted to enable histone-lysine N-methyltransferase activity. Involved in positive regulation of myoblast differentiation and positive regulation of myotube differentiation. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward heart (RPKM 63.9) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SMYD1 in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (88067825..88113384)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (88079089..88124637)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (88367344..88412903)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr2.3248 Neighboring gene skeletal muscle cis-regulatory module upstream of SMYD1 Neighboring gene Sharpr-MPRA regulatory region 1533 Neighboring gene microRNA 4780 Neighboring gene Sharpr-MPRA regulatory region 11659 Neighboring gene fatty acid binding protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K4 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone lysine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription corepressor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in histone lysine methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of myotube differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase SMYD1
    Names
    CD8 beta opposite
    SET and MYND domain-containing protein 1
    zinc finger, MYND domain containing 18
    NP_001317293.1
    NP_938015.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330364.2NP_001317293.1  histone-lysine N-methyltransferase SMYD1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2)
      Source sequence(s)
      AC092836
      Consensus CDS
      CCDS82480.1
      UniProtKB/TrEMBL
      E9PHG3
      Related
      ENSP00000407888.2, ENST00000444564.2
      Conserved Domains (2) summary
      smart00317
      Location:194244
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam01753
      Location:5290
      zf-MYND; MYND finger
    2. NM_198274.4NP_938015.1  histone-lysine N-methyltransferase SMYD1 isoform 1

      See identical proteins and their annotated locations for NP_938015.1

      Status: VALIDATED

      Source sequence(s)
      AC092836, AL832035, BC126191, BX647878
      Consensus CDS
      CCDS33240.1
      UniProtKB/Swiss-Prot
      A6NE13, Q8NB12
      UniProtKB/TrEMBL
      Q5HYE8
      Related
      ENSP00000393453.2, ENST00000419482.7
      Conserved Domains (2) summary
      smart00317
      Location:194257
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam01753
      Location:5290
      zf-MYND; MYND finger

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      88067825..88113384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      88079089..88124637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)