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

Gene ID: 150572, updated on 23-Nov-2021

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
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
Expression
Restricted expression toward heart (RPKM 63.9) See more
Orthologs
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Genomic context

See SMYD1 in Genome Data Viewer
Location:
2p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (88067825..88113384)
105.20201022 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

Associated conditions

Description Tests
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

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-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 transcription, DNA-templated 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)

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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
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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