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

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: mouse all
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Genomic context

Location:: 5q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (69217760..69230158)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (70040372..70055914)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (68513587..68525985)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S1413 (e-PCR)
- UniSTS:149790

D5S1416 (e-PCR)
- UniSTS:149873

D5S602 (e-PCR)
- UniSTS:68005

RH94105 (e-PCR)
- UniSTS:92097

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to oxoglutarate dehydrogenase (succinyl-transferring) activity	IBA Inferred from Biological aspect of Ancestor more info
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	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

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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.