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HEMK1 HemK methyltransferase family member 1 [ Homo sapiens (human) ]

Gene ID: 51409, updated on 2-May-2024

Summary

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Official Symbol
HEMK1provided by HGNC
Official Full Name
HemK methyltransferase family member 1provided by HGNC
Primary source
HGNC:HGNC:24923
See related
Ensembl:ENSG00000114735 MIM:618609; AllianceGenome:HGNC:24923
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
HEMK; MTQ1; MPRMC
Summary
Predicted to enable DNA binding activity and methyltransferase activity. Predicted to be involved in DNA methylation and protein methylation. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 4.4), ovary (RPKM 4.1) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
3p21.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50569180..50596166)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50599066..50626049)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50606611..50633597)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit alpha2delta 2 Neighboring gene uncharacterized LOC105377082 Neighboring gene uncharacterized LOC124909378 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:50497326-50497515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50502013-50502514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50504841-50505342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50522331-50522892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50525585-50526085 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50530681-50531336 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50533211-50534158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50541176-50541684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50541685-50542193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50549261-50550206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50553051-50553689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50560501-50561010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50562801-50563438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50569793-50570542 Neighboring gene uncharacterized LOC105377083 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:50575146-50575387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50576885-50577561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50584920-50585829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50586902-50587840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19907 Neighboring gene chromosome 3 open reading frame 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50619223-50619724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50619725-50620224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50621581-50622099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19911 Neighboring gene VISTA enhancer hs1747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50648164-50648724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50654302-50655255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50655256-50656208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50662917-50663693 Neighboring gene MAPK activated protein kinase 3 Neighboring gene cytokine inducible SH2 containing protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50684509-50685008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50686500-50687053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50688509-50689442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50689443-50690376 Neighboring gene long intergenic non-protein coding RNA 2019

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors. Fang Q, et al. Sci Rep, 2022 Mar 8. PMID 35260756, Free PMC Article
  2. The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC. Ishizawa T, et al. Biochem Biophys Res Commun, 2008 Aug 15. PMID 18541145
  3. Is the HemK family of putative S-adenosylmethionine-dependent methyltransferases a "missing" zeta subfamily of adenine methyltransferases? A hypothesis. Bujnicki JM, et al. IUBMB Life, 1999 Sep. PMID 10690633
  4. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors.
    Title: Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  3. Human mitochondrial methyltransferase, HMPrmC, which methylates the glutamine residue in the GGQ tripeptide motif of HMRF1L, was identified.
    Title: The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22320

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables N-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein-(glutamine-N5) methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in methylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
MTRF1L release factor glutamine methyltransferase
Names
HEMK homolog 7kb
m.HsaHemKP
testis secretory sperm-binding protein Li 225n
NP_001304780.1
NP_001364349.1
NP_001364350.1
NP_001364351.1
NP_001364352.1
NP_001364353.1
NP_001364354.1
NP_001364355.1
NP_001364356.1
NP_001364357.1
NP_001364358.1
NP_057257.1
XP_005265275.1
XP_011532108.1
XP_011532109.1
XP_011532110.1
XP_011532112.1
XP_011532114.1
XP_011532116.1
XP_047304235.1
XP_047304236.1
XP_047304237.1
XP_047304238.1
XP_047304239.1
XP_047304240.1
XP_047304241.1
XP_047304242.1
XP_047304243.1
XP_047304244.1
XP_047304245.1
XP_047304246.1
XP_054202759.1
XP_054202760.1
XP_054202761.1
XP_054202762.1
XP_054202763.1
XP_054202764.1
XP_054202765.1
XP_054202766.1
XP_054202767.1
XP_054202768.1
XP_054202769.1
XP_054202770.1
XP_054202771.1
XP_054202772.1

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_001317851.2 → NP_001304780.1  MTRF1L release factor glutamine methyltransferase isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC096920, AF172244, AK025973, BQ183021, BX537562, DA404565, DB101409
    Consensus CDS
    CCDS2830.1
    UniProtKB/Swiss-Prot
    Q9Y5R4
    UniProtKB/TrEMBL
    A0A140VK98, B2RA37
    Related
    ENSP00000404843.1, ENST00000434410.5
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 331
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  2. NM_001377420.1 → NP_001364349.1  MTRF1L release factor glutamine methyltransferase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Consensus CDS
    CCDS2830.1
    UniProtKB/Swiss-Prot
    Q9Y5R4
    UniProtKB/TrEMBL
    A0A140VK98, B2RA37
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 331
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  3. NM_001377421.1 → NP_001364350.1  MTRF1L release factor glutamine methyltransferase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Consensus CDS
    CCDS2830.1
    UniProtKB/Swiss-Prot
    Q9Y5R4
    UniProtKB/TrEMBL
    A0A140VK98, B2RA37
    Related
    ENSP00000404334.1, ENST00000455834.5
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 331
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  4. NM_001377422.1 → NP_001364351.1  MTRF1L release factor glutamine methyltransferase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Consensus CDS
    CCDS2830.1
    UniProtKB/Swiss-Prot
    Q9Y5R4
    UniProtKB/TrEMBL
    A0A140VK98, B2RA37
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 331
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  5. NM_001377423.1 → NP_001364352.1  MTRF1L release factor glutamine methyltransferase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC096920
    UniProtKB/TrEMBL
    B2RA37
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 326
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  6. NM_001377424.1 → NP_001364353.1  MTRF1L release factor glutamine methyltransferase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC096920
    UniProtKB/TrEMBL
    B2RA37
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 330
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  7. NM_001377425.1 → NP_001364354.1  MTRF1L release factor glutamine methyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:1 → 224
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  8. NM_001377426.1 → NP_001364355.1  MTRF1L release factor glutamine methyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:1 → 224
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  9. NM_001377427.1 → NP_001364356.1  MTRF1L release factor glutamine methyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:1 → 224
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  10. NM_001377428.1 → NP_001364357.1  MTRF1L release factor glutamine methyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:1 → 224
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  11. NM_001377429.1 → NP_001364358.1  MTRF1L release factor glutamine methyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:1 → 224
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  12. NM_016173.5 → NP_057257.1  MTRF1L release factor glutamine methyltransferase isoform 1

    See identical proteins and their annotated locations for NP_057257.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC096920, AF172244, AK314023, BQ183021, BX537562, DA363235, DA404565, DB101409
    Consensus CDS
    CCDS2830.1
    UniProtKB/Swiss-Prot
    Q9Y5R4
    UniProtKB/TrEMBL
    A0A140VK98, B2RA37
    Related
    ENSP00000232854.4, ENST00000232854.9
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 331
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    50569180..50596166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448287.1 → XP_047304243.1  MTRF1L release factor glutamine methyltransferase isoform X5

  2. XM_011533808.1 → XP_011532110.1  MTRF1L release factor glutamine methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_011532110.1

    UniProtKB/TrEMBL
    B2RA37
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 326
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  3. XM_047448285.1 → XP_047304241.1  MTRF1L release factor glutamine methyltransferase isoform X3

    UniProtKB/Swiss-Prot
    Q9Y5R4
    UniProtKB/TrEMBL
    A0A140VK98

  4. XM_047448286.1 → XP_047304242.1  MTRF1L release factor glutamine methyltransferase isoform X3

    UniProtKB/Swiss-Prot
    Q9Y5R4
    UniProtKB/TrEMBL
    A0A140VK98

  5. XM_047448284.1 → XP_047304240.1  MTRF1L release factor glutamine methyltransferase isoform X3

    UniProtKB/Swiss-Prot
    Q9Y5R4
    UniProtKB/TrEMBL
    A0A140VK98

  6. XM_047448288.1 → XP_047304244.1  MTRF1L release factor glutamine methyltransferase isoform X5

  7. XM_005265218.4 → XP_005265275.1  MTRF1L release factor glutamine methyltransferase isoform X5

    UniProtKB/TrEMBL
    B2RA37
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 279
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  8. XM_047448281.1 → XP_047304237.1  MTRF1L release factor glutamine methyltransferase isoform X1

  9. XM_011533807.2 → XP_011532109.1  MTRF1L release factor glutamine methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_011532109.1

    UniProtKB/TrEMBL
    B2RA37
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 326
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  10. XM_047448282.1 → XP_047304238.1  MTRF1L release factor glutamine methyltransferase isoform X1

  11. XM_047448280.1 → XP_047304236.1  MTRF1L release factor glutamine methyltransferase isoform X1

  12. XM_011533806.3 → XP_011532108.1  MTRF1L release factor glutamine methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_011532108.1

    UniProtKB/TrEMBL
    B2RA37
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 326
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  13. XM_011533810.3 → XP_011532112.1  MTRF1L release factor glutamine methyltransferase isoform X2

    UniProtKB/TrEMBL
    B2RA37
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 326
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  14. XM_011533812.3 → XP_011532114.1  MTRF1L release factor glutamine methyltransferase isoform X4

    UniProtKB/TrEMBL
    B2RA37
    Conserved Domains (1) summary
    TIGR03534
    Location:63 → 274
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

  15. XM_047448279.1 → XP_047304235.1  MTRF1L release factor glutamine methyltransferase isoform X1

  16. XM_047448283.1 → XP_047304239.1  MTRF1L release factor glutamine methyltransferase isoform X2

  17. XM_047448289.1 → XP_047304245.1  MTRF1L release factor glutamine methyltransferase isoform X6

  18. XM_047448290.1 → XP_047304246.1  MTRF1L release factor glutamine methyltransferase isoform X7

  19. XM_011533814.3 → XP_011532116.1  MTRF1L release factor glutamine methyltransferase isoform X7

    See identical proteins and their annotated locations for XP_011532116.1

    Conserved Domains (1) summary
    TIGR03534
    Location:1 → 219
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

RNA

  1. XR_007095692.1 RNA Sequence

  2. XR_940453.3 RNA Sequence

  3. XR_940454.3 RNA Sequence

  4. XR_940451.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    50599066..50626049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346787.1 → XP_054202762.1  MTRF1L release factor glutamine methyltransferase isoform X1

  2. XM_054346793.1 → XP_054202768.1  MTRF1L release factor glutamine methyltransferase isoform X5

  3. XM_054346788.1 → XP_054202763.1  MTRF1L release factor glutamine methyltransferase isoform X1

  4. XM_054346789.1 → XP_054202764.1  MTRF1L release factor glutamine methyltransferase isoform X1

  5. XM_054346786.1 → XP_054202761.1  MTRF1L release factor glutamine methyltransferase isoform X1

  6. XM_054346784.1 → XP_054202759.1  MTRF1L release factor glutamine methyltransferase isoform X1

  7. XM_054346790.1 → XP_054202765.1  MTRF1L release factor glutamine methyltransferase isoform X2

  8. XM_054346792.1 → XP_054202767.1  MTRF1L release factor glutamine methyltransferase isoform X4

  9. XM_054346785.1 → XP_054202760.1  MTRF1L release factor glutamine methyltransferase isoform X1

  10. XM_054346791.1 → XP_054202766.1  MTRF1L release factor glutamine methyltransferase isoform X2

  11. XM_054346794.1 → XP_054202769.1  MTRF1L release factor glutamine methyltransferase isoform X5

  12. XM_054346795.1 → XP_054202770.1  MTRF1L release factor glutamine methyltransferase isoform X6

  13. XM_054346797.1 → XP_054202772.1  MTRF1L release factor glutamine methyltransferase isoform X7

  14. XM_054346796.1 → XP_054202771.1  MTRF1L release factor glutamine methyltransferase isoform X7

RNA

  1. XR_008486734.1 RNA Sequence

  2. XR_008486731.1 RNA Sequence

  3. XR_008486732.1 RNA Sequence

  4. XR_008486733.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y5R4.1 GenPept UniProtKB/Swiss-Prot:Q9Y5R4

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