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KMT5B lysine methyltransferase 5B [ Homo sapiens (human) ]

Gene ID: 51111, updated on 19-Jun-2019

Summary

Official Symbol
KMT5Bprovided by HGNC
Official Full Name
lysine methyltransferase 5Bprovided by HGNC
Primary source
HGNC:HGNC:24283
See related
Ensembl:ENSG00000110066 MIM:610881
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; MRD51; CGI-85; SUV420H1
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]
Expression
Ubiquitous expression in thyroid (RPKM 12.1), endometrium (RPKM 8.7) and 25 other tissues See more
Orthologs

Genomic context

See KMT5B in Genome Data Viewer
Location:
11q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (68154863..68213899, 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 V0 subunit a3 Neighboring gene choline kinase alpha Neighboring gene uncharacterized LOC105369362 Neighboring gene uncharacterized LOC105369363 Neighboring gene chromosome 11 open reading frame 24

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MedGen: C4540474 OMIM: 617788 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
Component Evidence Code Pubs
condensed nuclear chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
histone-lysine N-methyltransferase KMT5B
Names
histone-lysine N-methyltransferase SUV420H1
lysine (K)-specific methyltransferase 5B
lysine N-methyltransferase 5B
lysine-specific methyltransferase 5B
su(var)4-20 homolog 1
suppressor of variegation 4-20 homolog 1
NP_001287836.1
NP_001287837.1
NP_001287838.1
NP_001350495.1
NP_001356353.1
NP_001356354.1
NP_001356355.1
NP_001356356.1
NP_001356357.1
NP_001356358.1
NP_001356359.1
NP_001356360.1
NP_001356361.1
NP_001356362.1
NP_057112.3
NP_060105.3
XP_005274092.2
XP_005274093.2
XP_006718644.1
XP_011543394.1
XP_016873367.1
XP_024304338.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_052873.1 RefSeqGene

    Range
    5428..63910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001300907.1NP_001287836.1  histone-lysine N-methyltransferase KMT5B isoform 3

    See identical proteins and their annotated locations for 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_001300908.2NP_001287837.1  histone-lysine N-methyltransferase KMT5B 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:2168
    SET; SET domain
  3. NM_001300909.2NP_001287838.1  histone-lysine N-methyltransferase KMT5B 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
    Consensus CDS
    CCDS76444.1
    UniProtKB/Swiss-Prot
    Q4FZB7
    UniProtKB/TrEMBL
    B7WNX0, B7Z5N2
    Related
    ENSP00000384724.2, ENST00000402185.6
    Conserved Domains (1) summary
    smart00317
    Location:180291
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  4. NM_001363566.2NP_001350495.1  histone-lysine N-methyltransferase KMT5B isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
    Consensus CDS
    CCDS86221.1
    Conserved Domains (1) summary
    smart00317
    Location:203314
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  5. NM_001369424.1NP_001356353.1  histone-lysine N-methyltransferase KMT5B isoform 7

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
  6. NM_001369425.1NP_001356354.1  histone-lysine N-methyltransferase KMT5B isoform 8

    Status: REVIEWED

    Source sequence(s)
    AP002992
    Conserved Domains (1) summary
    smart00317
    Location:132243
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  7. NM_001369426.1NP_001356355.1  histone-lysine N-methyltransferase KMT5B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
  8. NM_001369427.1NP_001356356.1  histone-lysine N-methyltransferase KMT5B isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
  9. NM_001369428.1NP_001356357.1  histone-lysine N-methyltransferase KMT5B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
  10. NM_001369429.1NP_001356358.1  histone-lysine N-methyltransferase KMT5B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
  11. NM_001369430.1NP_001356359.1  histone-lysine N-methyltransferase KMT5B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP002992
  12. NM_001369431.1NP_001356360.1  histone-lysine N-methyltransferase KMT5B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
  13. NM_001369432.1NP_001356361.1  histone-lysine N-methyltransferase KMT5B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
  14. NM_001369433.1NP_001356362.1  histone-lysine N-methyltransferase KMT5B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
  15. NM_016028.4NP_057112.3  histone-lysine N-methyltransferase KMT5B isoform 2

    See identical proteins and their annotated locations for 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
    ENSP00000385965.2, ENST00000401547.6
    Conserved Domains (1) summary
    smart00317
    Location:203314
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  16. NM_017635.5NP_060105.3  histone-lysine N-methyltransferase KMT5B isoform 1

    See identical proteins and their annotated locations for 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
    ENSP00000305899.4, ENST00000304363.9
    Conserved Domains (1) summary
    smart00317
    Location:203314
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

RNA

  1. NR_161378.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
  2. NR_161379.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427
  3. NR_161380.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP002992, KC877427

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    68154863..68213899 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274036.4XP_005274093.2  histone-lysine N-methyltransferase KMT5B isoform X2

    See identical proteins and their annotated locations for XP_005274093.2

    Conserved Domains (1) summary
    smart00317
    Location:180291
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  2. XM_011545092.3XP_011543394.1  histone-lysine N-methyltransferase KMT5B isoform X3

    Conserved Domains (1) summary
    smart00317
    Location:132243
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  3. XM_005274035.4XP_005274092.2  histone-lysine N-methyltransferase KMT5B isoform X1

    See identical proteins and their annotated locations for XP_005274092.2

    UniProtKB/Swiss-Prot
    Q4FZB7
    Related
    ENSP00000484858.1, ENST00000615954.4
    Conserved Domains (1) summary
    smart00317
    Location:203314
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  4. XM_006718581.2XP_006718644.1  histone-lysine N-methyltransferase KMT5B isoform X2

    See identical proteins and their annotated locations for XP_006718644.1

    Conserved Domains (1) summary
    smart00317
    Location:180291
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  5. XM_017017878.2XP_016873367.1  histone-lysine N-methyltransferase KMT5B isoform X4

    Conserved Domains (1) summary
    smart00317
    Location:31142
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  6. XM_024448570.1XP_024304338.1  histone-lysine N-methyltransferase KMT5B isoform X5

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