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METTL6 methyltransferase 6, methylcytidine [ Homo sapiens (human) ]

Gene ID: 131965, updated on 6-Sep-2022

Summary

Official Symbol
METTL6provided by HGNC
Official Full Name
methyltransferase 6, methylcytidineprovided by HGNC
Primary source
HGNC:HGNC:28343
See related
Ensembl:ENSG00000206562 MIM:618903; AllianceGenome:HGNC:28343
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
hMETTL6
Summary
Enables enzyme binding activity. Involved in tRNA methylation. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 1.5), brain (RPKM 1.4) and 25 other tissues See more
Orthologs
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Genomic context

See METTL6 in Genome Data Viewer
Location:
3p25.1
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (15381275..15427643, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (15412159..15429956, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15451267..15469051, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909348 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 7 Neighboring gene RNA, U6 small nuclear 1024, pseudogene Neighboring gene ELL associated factor 1 Neighboring gene collagen like tail subunit of asymmetric acetylcholinesterase Neighboring gene microRNA 4270

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

Phenotypes

EBI GWAS Catalog

Description
Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC24132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables tRNA (cytosine-3-)-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in tRNA methylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tRNA N(3)-methylcytidine methyltransferase METTL6
Names
methyltransferase like 6
methyltransferase-like protein 6
NP_001288719.1
NP_001288720.1
NP_001288721.1
NP_001317591.1
NP_689609.2
XP_005264924.1
XP_006713033.1
XP_006713035.1
XP_011531659.1
XP_016861207.1
XP_016861208.1
XP_016861212.1
XP_016861213.1
XP_047303406.1
XP_047303407.1
XP_047303408.1
XP_047303409.1
XP_047303410.1
XP_047303411.1
XP_047303412.1

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_001301790.2NP_001288719.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform 2

    See identical proteins and their annotated locations for NP_001288719.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC027125, AK293370, BG701912, CX872865, Z44406
    Consensus CDS
    CCDS77706.1
    UniProtKB/TrEMBL
    B4DDX3
    Related
    ENSP00000410726.2, ENST00000450816.6
    Conserved Domains (1) summary
    cd02440
    Location:70142
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. NM_001301791.2NP_001288720.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains multiple coding region differences, including an alternate 3' terminal exon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC027125, BG701912, BU183521, CA430635
    Conserved Domains (1) summary
    pfam08242
    Location:84178
    Methyltransf_12; Methyltransferase domain
  3. NM_001301792.2NP_001288721.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC027125, BC022400, BG701912, BI913767, CX872865, Z44406
    UniProtKB/Swiss-Prot
    Q8TCB7
    Conserved Domains (1) summary
    pfam08242
    Location:84177
    Methyltransf_12; Methyltransferase domain
  4. NM_001330662.2NP_001317591.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in the 3' coding region and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 5, which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC027125, BX114702
    Consensus CDS
    CCDS87051.1
    UniProtKB/Swiss-Prot
    Q8TCB7
    Related
    ENSP00000373299.5, ENST00000383789.9
    Conserved Domains (1) summary
    pfam08242
    Location:84178
    Methyltransf_12; Methyltransferase domain
  5. NM_152396.4NP_689609.2  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform 1

    See identical proteins and their annotated locations for NP_689609.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC027125, BC022400, BG701912, CX872865, Z44406
    Consensus CDS
    CCDS43056.1
    UniProtKB/Swiss-Prot
    Q8TCB7, Q96LU4
    Related
    ENSP00000373300.3, ENST00000383790.8
    Conserved Domains (1) summary
    pfam08242
    Location:84182
    Methyltransf_12; Methyltransferase domain

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    15381275..15427643 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005719.2XP_016861208.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X3

    UniProtKB/TrEMBL
    B4DDX3
    Conserved Domains (1) summary
    cd02440
    Location:70142
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. XM_017005723.2XP_016861212.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X9

    Conserved Domains (1) summary
    cd02440
    Location:70132
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  3. XM_005264867.5XP_005264924.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X1

    See identical proteins and their annotated locations for XP_005264924.1

    UniProtKB/Swiss-Prot
    Q8TCB7, Q96LU4
    Related
    ENSP00000407613.1, ENST00000443029.5
    Conserved Domains (1) summary
    pfam08242
    Location:84182
    Methyltransf_12; Methyltransferase domain
  4. XM_006712972.5XP_006713035.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X4

    Conserved Domains (1) summary
    pfam08242
    Location:84178
    Methyltransf_12; Methyltransferase domain
  5. XM_047447450.1XP_047303406.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X1

    UniProtKB/Swiss-Prot
    Q96LU4
  6. XM_017005718.3XP_016861207.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X1

    UniProtKB/Swiss-Prot
    Q8TCB7, Q96LU4
    Conserved Domains (1) summary
    pfam08242
    Location:84182
    Methyltransf_12; Methyltransferase domain
  7. XM_047447456.1XP_047303412.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X11

  8. XM_011533357.4XP_011531659.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X5

    Conserved Domains (1) summary
    pfam08242
    Location:84178
    Methyltransf_12; Methyltransferase domain
  9. XM_006712970.5XP_006713033.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X1

    See identical proteins and their annotated locations for XP_006713033.1

    UniProtKB/Swiss-Prot
    Q8TCB7, Q96LU4
    Conserved Domains (1) summary
    pfam08242
    Location:84182
    Methyltransf_12; Methyltransferase domain
  10. XM_047447452.1XP_047303408.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X5

  11. XM_047447454.1XP_047303410.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X7

  12. XM_047447455.1XP_047303411.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X8

  13. XM_047447451.1XP_047303407.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X2

  14. XM_047447453.1XP_047303409.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X6

  15. XM_017005724.3XP_016861213.1  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X10

    Conserved Domains (1) summary
    pfam08242
    Location:84178
    Methyltransf_12; Methyltransferase domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    15412159..15429956 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)