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ATPSCKMT ATP synthase c subunit lysine N-methyltransferase [ Homo sapiens (human) ]

Gene ID: 134145, updated on 23-Nov-2021

Summary

Official Symbol
ATPSCKMTprovided by HGNC
Official Full Name
ATP synthase c subunit lysine N-methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:27029
See related
Ensembl:ENSG00000150756 MIM:618568
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
JS-2; FAM173B; hFAM173B
Expression
Ubiquitous expression in fat (RPKM 4.0), adrenal (RPKM 3.9) and 25 other tissues See more
Orthologs
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Genomic context

See ATPSCKMT in Genome Data Viewer
Location:
5p15.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (10225507..10249888, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (10225619..10250000, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2112 Neighboring gene taste 2 receptor member 1 Neighboring gene long intergenic non-protein coding RNA 2221 Neighboring gene uncharacterized LOC107986405 Neighboring gene chaperonin containing TCP1 subunit 5 Neighboring gene carboxymethylenebutenolidase homolog

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20667

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-lysine N-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein-lysine N-methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial crista IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ATP synthase subunit C lysine N-methyltransferase
Names
family with sequence similarity 173 member B
protein FAM173B
protein N-lysine methyltransferase FAM173B

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_001258388.2NP_001245317.1  ATP synthase subunit C lysine N-methyltransferase isoform 2

    See identical proteins and their annotated locations for NP_001245317.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC034229, AK302012, DW420473
    Consensus CDS
    CCDS58942.1
    UniProtKB/Swiss-Prot
    Q6P4H8
    Related
    ENSP00000420876.1, ENST00000510047.5
    Conserved Domains (1) summary
    cl17173
    Location:83190
    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_001258389.2NP_001245318.1  ATP synthase subunit C lysine N-methyltransferase isoform 3

    See identical proteins and their annotated locations for NP_001245318.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC034229, DA523490
    Conserved Domains (1) summary
    cl17173
    Location:88123
    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. NM_199133.4NP_954584.2  ATP synthase subunit C lysine N-methyltransferase isoform 1

    See identical proteins and their annotated locations for NP_954584.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC034229, AK300042, GD160552
    Consensus CDS
    CCDS43301.1
    UniProtKB/Swiss-Prot
    Q6P4H8
    Related
    ENSP00000422338.1, ENST00000511437.6
    Conserved Domains (1) summary
    cl17173
    Location:83188
    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). ...

RNA

  1. NR_047668.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an internal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC034229, DA843869, DW420473
  2. NR_047669.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC034229, BG611454
  3. NR_047670.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains an alternate internal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC034229, AK055604

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    10225507..10249888 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513964.2XP_011512266.1  ATP synthase subunit C lysine N-methyltransferase isoform X1

    Conserved Domains (1) summary
    cl17173
    Location:83176
    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). ...
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