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METTL8 methyltransferase 8, tRNA N3-cytidine [ Homo sapiens (human) ]

Gene ID: 79828, updated on 4-Jan-2025

Summary

Official Symbol
METTL8provided by HGNC
Official Full Name
methyltransferase 8, tRNA N3-cytidineprovided by HGNC
Primary source
HGNC:HGNC:25856
See related
Ensembl:ENSG00000123600 MIM:609525; AllianceGenome:HGNC:25856
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
TIP
Summary
Enables mRNA methyltransferase activity and tRNA (cytidine-3-)-methyltransferase activity. Involved in RNA metabolic process and positive regulation of mitochondrial translation. Is active in mitochondrial matrix. [provided by Alliance of Genome Resources, Jan 2025]
Expression
Ubiquitous expression in skin (RPKM 2.5), esophagus (RPKM 2.0) and 24 other tissues See more
Orthologs
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Genomic context

See METTL8 in Genome Data Viewer
Location:
2q31.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (171315746..171434772, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (171792877..171911912, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172172256..172291282, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107983995 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:172100813-172102012 Neighboring gene uncharacterized LOC105373737 Neighboring gene small integral membrane protein 26-like Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:172172370-172173192 Neighboring gene Sharpr-MPRA regulatory region 707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16746 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172174870-172175072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16747 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172175660-172176482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16748 Neighboring gene Sharpr-MPRA regulatory region 8774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16750 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:172183340-172183864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172242874-172243458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172243459-172244043 Neighboring gene ribosomal protein S26 pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16756 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr2:172289881-172290441 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172291003-172291562 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172303768-172303972 Neighboring gene DDB1 and CUL4 associated factor 17 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5458 Neighboring gene death associated protein 3 pseudogene 2 Neighboring gene ribosomal protein S15 pseudogene 4

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Multiple loci influencing hippocampal degeneration identified by genome scan.
EBI GWAS Catalog

Interactions

General gene information

Clone Names

  • FLJ13334, FLJ13984, FLJ31054, FLJ42098, FLJ77788

Gene Ontology Provided by GOA

Component Evidence Code Pubs
NOT is_active_in cytoplasm PubMed 
is_active_in mitochondrial matrix PubMed 
is_active_in mitochondrion PubMed 
NOT is_active_in nucleus PubMed 

General protein information

Preferred Names
tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial
Names
mRNA N(3)-methylcytidine methyltransferase METTL8
methyltransferase 8, methylcytidine
methyltransferase like 8
methyltransferase-like protein 8
tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial
tension-induced/inhibited protein

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_001321154.2NP_001308083.1  tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC007739, AK024046, AK124092, BC025250, BM930105
    Consensus CDS
    CCDS2242.2
    UniProtKB/TrEMBL
    A0A9K3Y8H4, A8K7U3, B3KW44, D3DPD3, E7ETE0
    Related
    ENSP00000364407.4, ENST00000375258.9
    Conserved Domains (1) summary
    pfam13649
    Location:200303
    Methyltransf_25; Methyltransferase domain
  2. NM_001321155.2NP_001308084.1  tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC007739, AK024046, AK124092, BC025250, BM930105
    Consensus CDS
    CCDS2242.2
    UniProtKB/TrEMBL
    A0A9K3Y8H4, A8K7U3, B3KW44, D3DPD3, E7ETE0
    Conserved Domains (1) summary
    pfam13649
    Location:200303
    Methyltransf_25; Methyltransferase domain
  3. NM_001321156.2NP_001308085.1  tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC007739, AK124092, BM930105
    Consensus CDS
    CCDS2242.2
    UniProtKB/TrEMBL
    A0A9K3Y8H4, A8K7U3, B3KW44, D3DPD3, E7ETE0
    Conserved Domains (1) summary
    pfam13649
    Location:200303
    Methyltransf_25; Methyltransferase domain
  4. NM_001321157.2NP_001308086.1  tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC007739, AK124092, AK297141, BC025250, BM930105
    UniProtKB/TrEMBL
    A8K7U3
    Conserved Domains (1) summary
    pfam13649
    Location:248351
    Methyltransf_25; Methyltransferase domain
  5. NM_001321158.2NP_001308087.1  tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC007739, AC008065, AK297141, BM930105
    UniProtKB/TrEMBL
    A8K7U3, B4DLT0
    Conserved Domains (1) summary
    pfam13649
    Location:155258
    Methyltransf_25; Methyltransferase domain
  6. NM_001321159.2NP_001308088.1  tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC007739, AK124092, BC025250, BM930105
    UniProtKB/TrEMBL
    A8K7U3
    Conserved Domains (1) summary
    pfam13649
    Location:150253
    Methyltransf_25; Methyltransferase domain
  7. NM_001321160.2NP_001308089.1  tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC007739, AC008065, BC025250, BM930105
    Consensus CDS
    CCDS82532.1
    UniProtKB/Swiss-Prot
    Q53TM9, Q53TQ0, Q9H825
    Related
    ENSP00000376382.2, ENST00000392604.6
    Conserved Domains (1) summary
    pfam13649
    Location:200286
    Methyltransf_25; Methyltransferase domain
  8. NM_001321161.2NP_001308090.1  tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC007739, AC007969, AC008065, BM930105, KF459614
    Conserved Domains (1) summary
    pfam13649
    Location:155241
    Methyltransf_25; Methyltransferase domain
  9. NM_001321162.2NP_001308091.1  tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC007739, AK024046, BM930105
    Consensus CDS
    CCDS82531.1
    UniProtKB/Swiss-Prot
    Q9H825
    Related
    ENSP00000409025.1, ENST00000447486.5
    Conserved Domains (1) summary
    pfam13649
    Location:150236
    Methyltransf_25; Methyltransferase domain
  10. NM_024770.5NP_079046.2  tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC007739, AK124092, AK292108, BM930105
    Consensus CDS
    CCDS2242.2
    UniProtKB/TrEMBL
    A0A9K3Y8H4, A8K7U3, B3KW44, D3DPD3, E7ETE0
    Related
    ENSP00000480056.1, ENST00000612742.5
    Conserved Domains (1) summary
    pfam13649
    Location:200303
    Methyltransf_25; Methyltransferase domain

RNA

  1. NR_135568.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007739, AC008065, BM930105, DB031573, KF459614

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    171315746..171434772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    171792877..171911912 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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