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SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila) [ Homo sapiens (human) ]

Gene ID: 51111, updated on 17-Feb-2015
Official Symbol
SUV420H1provided by HGNC
Official Full Name
suppressor of variegation 4-20 homolog 1 (Drosophila)provided by HGNC
Primary source
HGNC:HGNC:24283
See related
Ensembl:ENSG00000110066; HPRD:11616; MIM:610881; Vega:OTTHUMG00000150484
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CGI85; KMT5B; CGI-85
Summary
This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Orthologs
See SUV420H1 in MapViewer
Location:
11q13.2
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (68154863..68213783, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67922330..67981250, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 Neighboring gene microRNA 6753 Neighboring gene choline kinase alpha Neighboring gene uncharacterized LOC102724209 Neighboring gene chromosome 11 open reading frame 24

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

Replication interactions

Interaction Pubs
Knockdown of suppressor of variegation 4-20 homolog 1 (SUV420H1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC703, MGC21161, MGC118906, MGC118909

Gene Ontology Provided by GOA

Function Evidence Code Pubs
histone methyltransferase activity (H4-K20 specific) IEA
Inferred from Electronic Annotation
more info
 
histone-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
histone H4-K20 trimethylation IEA
Inferred from Electronic Annotation
more info
 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
condensed nuclear chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
histone-lysine N-methyltransferase SUV420H1
Names
histone-lysine N-methyltransferase SUV420H1
C630029K18Rik
lysine N-methyltransferase 5B
su(var)4-20 homolog 1
suv4-20h1
NP_057112.3
NP_060105.3

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_001300907.1NP_001287836.1  histone-lysine N-methyltransferase SUV420H1 isoform 3

    See proteins identical to NP_001287836.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon and uses a downstream start codon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AP002992, BC108304
    Conserved Domains (1) summary
    smart00317
    Location:31142
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  2. NM_001300908.1NP_001287837.1  histone-lysine N-methyltransferase SUV420H1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate first exon and an alternate splice junction at the 5' end of an exon, and uses a downstream start codon compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK314336, AP002992, CR997801
    Conserved Domains (1) summary
    pfam00856
    Location:968
    SET; SET domain
  3. NM_001300909.1NP_001287838.1  histone-lysine N-methyltransferase SUV420H1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate first exon, lacks an alternate in-frame exon, and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (5) has a shorter and distinct C-terminus and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AK299201, AP002992, BC002522, CR997801, KC877427
    UniProtKB/TrEMBL
    B7WNX0
    UniProtKB/TrEMBL
    B7Z5N2
    UniProtKB/Swiss-Prot
    Q4FZB7
    Conserved Domains (1) summary
    smart00317
    Location:180291
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  4. NM_016028.4NP_057112.3  histone-lysine N-methyltransferase SUV420H1 isoform 2

    See proteins identical to NP_057112.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 3' exon and utilizes an upstream stop codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC002522, BM152996
    Consensus CDS
    CCDS44660.1
    UniProtKB/Swiss-Prot
    Q4FZB7
    Related
    ENSP00000385965, OTTHUMP00000197488, ENST00000401547, OTTHUMT00000318328
    Conserved Domains (1) summary
    smart00317
    Location:203314
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  5. NM_017635.4NP_060105.3  histone-lysine N-methyltransferase SUV420H1 isoform 1

    See proteins identical to NP_060105.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AP002992, BC099714, BC108304
    Consensus CDS
    CCDS31623.1
    UniProtKB/Swiss-Prot
    Q4FZB7
    Related
    ENSP00000484858, ENST00000615954
    Conserved Domains (1) summary
    smart00317
    Location:203314
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38 Primary Assembly

    Range
    68154863..68213783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274036.2XP_005274093.2  

    See proteins identical to XP_005274093.2

    Conserved Domains (1) summary
    smart00317
    Location:180291
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  2. XM_005274035.2XP_005274092.2  

    See proteins identical to XP_005274092.2

    UniProtKB/Swiss-Prot
    Q4FZB7
    Related
    ENSP00000305899, OTTHUMP00000197480, ENST00000304363, OTTHUMT00000318319
    Conserved Domains (1) summary
    smart00317
    Location:203314
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  3. XM_006718581.1XP_006718644.1  

    See proteins identical to XP_006718644.1

    Conserved Domains (1) summary
    smart00317
    Location:180291
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  4. XM_005274037.1XP_005274094.1  

    See proteins identical to XP_005274094.1

    Conserved Domains (1) summary
    smart00317
    Location:31142
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  5. XM_005274038.2XP_005274095.2  

    UniProtKB/TrEMBL
    B5MCB3
    Related
    ENSP00000385005, OTTHUMP00000197487, ENST00000402789, OTTHUMT00000318327
    Conserved Domains (1) summary
    smart00317
    Location:203314
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    67807859..67865062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 Alternate HuRef

    Range
    64258962..64316330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)