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KGD4 alpha-ketoglutarate dehydrogenase subunit 4 [ Homo sapiens (human) ]

Gene ID: 92259, updated on 19-Sep-2024

Summary

Official Symbol
KGD4provided by HGNC
Official Full Name
alpha-ketoglutarate dehydrogenase subunit 4provided by HGNC
Primary source
HGNC:HGNC:16631
See related
Ensembl:ENSG00000134056 MIM:611996; AllianceGenome:HGNC:16631
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
DC47; MRPS36; MRP-S36
Summary
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 19.9), heart (RPKM 18.0) and 25 other tissues See more
Orthologs
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Genomic context

See KGD4 in Genome Data Viewer
Location:
5q13.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (69217760..69230158)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (70040372..70055914)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (68513587..68525985)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112267932 Neighboring gene Sharpr-MPRA regulatory region 51 Neighboring gene centromere protein H Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22641 Neighboring gene Sharpr-MPRA regulatory region 69 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68515812-68516436 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68530435-68530963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:68532675-68533175 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68545886-68546386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68546387-68546887 Neighboring gene cyclin dependent kinase 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68561629-68562129 Neighboring gene coiled-coil domain containing 125 Neighboring gene cofilin 1 pseudogene 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC22896

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein-macromolecule adaptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in 2-oxoglutarate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in 2-oxoglutarate metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in 2-oxoglutarate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in tricarboxylic acid cycle ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of oxoglutarate dehydrogenase complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of oxoglutarate dehydrogenase complex ISO
Inferred from Sequence Orthology
more info
 
part_of oxoglutarate dehydrogenase complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
alpha-ketoglutarate dehydrogenase component 4
Names
28S ribosomal protein S36, mitochondrial
S36mt
mitochondrial ribosomal protein S36

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_033281.6NP_150597.1  alpha-ketoglutarate dehydrogenase component 4

    See identical proteins and their annotated locations for NP_150597.1

    Status: VALIDATED

    Source sequence(s)
    AC145132, BC015966
    Consensus CDS
    CCDS34174.1
    UniProtKB/Swiss-Prot
    P82909, Q9H2H4
    Related
    ENSP00000256441.4, ENST00000256441.5

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    69217760..69230158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    942..13338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    70040372..70055914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)