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

Gene ID: 51409, updated on 24-Nov-2020

Summary

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
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
Expression
Ubiquitous expression in thyroid (RPKM 4.4), ovary (RPKM 4.1) and 25 other tissues See more
Orthologs

Genomic context

See HEMK1 in Genome Data Viewer
Location:
3p21.31
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (50569152..50596166)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50606583..50622422)

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 LOC105377083 Neighboring gene chromosome 3 open reading frame 18 Neighboring gene VISTA enhancer hs1747 Neighboring gene cytokine inducible SH2 containing protein

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22320

Gene Ontology Provided by GOA

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

General protein information

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_011532115.1
XP_011532116.1
XP_024309335.1

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.

mRNA and Protein(s)

  1. NM_001317851.2NP_001304780.1  MTRF1L release factor glutamine methyltransferase

    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
    Related
    ENSP00000404843.1, ENST00000434410.5
    Conserved Domains (1) summary
    TIGR03534
    Location:63331
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  2. NM_001377420.1NP_001364349.1  MTRF1L release factor glutamine methyltransferase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:63331
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  3. NM_001377421.1NP_001364350.1  MTRF1L release factor glutamine methyltransferase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Related
    ENSP00000404334.1, ENST00000455834.5
    Conserved Domains (1) summary
    TIGR03534
    Location:63331
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  4. NM_001377422.1NP_001364351.1  MTRF1L release factor glutamine methyltransferase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:63331
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  5. NM_001377423.1NP_001364352.1  MTRF1L release factor glutamine methyltransferase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:63326
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  6. NM_001377424.1NP_001364353.1  MTRF1L release factor glutamine methyltransferase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC096920
  7. NM_001377425.1NP_001364354.1  MTRF1L release factor glutamine methyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:1224
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  8. NM_001377426.1NP_001364355.1  MTRF1L release factor glutamine methyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:1224
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  9. NM_001377427.1NP_001364356.1  MTRF1L release factor glutamine methyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:1224
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  10. NM_001377428.1NP_001364357.1  MTRF1L release factor glutamine methyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:1224
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  11. NM_001377429.1NP_001364358.1  MTRF1L release factor glutamine methyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096920
    Conserved Domains (1) summary
    TIGR03534
    Location:1224
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  12. NM_016173.5NP_057257.1  MTRF1L release factor glutamine methyltransferase

    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, ENST00000232854.8
    Conserved Domains (1) summary
    TIGR03534
    Location:63331
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    50569152..50596166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533813.2XP_011532115.1  MTRF1L release factor glutamine methyltransferase isoform X7

    See identical proteins and their annotated locations for XP_011532115.1

    Conserved Domains (1) summary
    TIGR03534
    Location:1219
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  2. XM_011533806.2XP_011532108.1  MTRF1L release factor glutamine methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_011532108.1

    Conserved Domains (1) summary
    TIGR03534
    Location:63326
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  3. XM_011533810.2XP_011532112.1  MTRF1L release factor glutamine methyltransferase isoform X3

    Conserved Domains (1) summary
    TIGR03534
    Location:63326
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  4. XM_011533812.2XP_011532114.1  MTRF1L release factor glutamine methyltransferase isoform X5

    Conserved Domains (1) summary
    TIGR03534
    Location:63274
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  5. XM_011533814.2XP_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:1219
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  6. XM_005265218.3XP_005265275.1  MTRF1L release factor glutamine methyltransferase isoform X6

    Conserved Domains (1) summary
    TIGR03534
    Location:63279
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  7. XM_024453567.1XP_024309335.1  MTRF1L release factor glutamine methyltransferase isoform X9

    Conserved Domains (1) summary
    cl17173
    Location:59139
    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). ...
  8. XM_011533808.1XP_011532110.1  MTRF1L release factor glutamine methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_011532110.1

    Conserved Domains (1) summary
    TIGR03534
    Location:63326
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific
  9. XM_011533807.1XP_011532109.1  MTRF1L release factor glutamine methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_011532109.1

    Conserved Domains (1) summary
    TIGR03534
    Location:63326
    RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

RNA

  1. XR_940453.2 RNA Sequence

  2. XR_940454.2 RNA Sequence

  3. XR_940451.2 RNA Sequence

  4. XR_940455.2 RNA Sequence

  5. XR_001740170.1 RNA Sequence

  6. XR_001740171.1 RNA Sequence

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