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SDHAF4 succinate dehydrogenase complex assembly factor 4 [ Homo sapiens (human) ]

Gene ID: 135154, updated on 6-Sep-2022

Summary

Official Symbol
SDHAF4provided by HGNC
Official Full Name
succinate dehydrogenase complex assembly factor 4provided by HGNC
Primary source
HGNC:HGNC:20957
See related
Ensembl:ENSG00000154079 MIM:619198; AllianceGenome:HGNC:20957
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
Sdh8; C6orf57
Summary
Predicted to enable enzyme activator activity. Involved in cellular respiration and mitochondrial respiratory chain complex II assembly. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 12.9), brain (RPKM 11.1) and 25 other tissues See more
Orthologs
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Genomic context

See SDHAF4 in Genome Data Viewer
Location:
6q13
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (70566930..70598428)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (71747474..71770117)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (71276633..71299272)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene FAM135A antisense RNA 1 Neighboring gene family with sequence similarity 135 member A Neighboring gene RNA, U7 small nuclear 48 pseudogene Neighboring gene spermine synthase pseudogene Neighboring gene solute carrier family 25 member 6 pseudogene 6

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

Phenotypes

EBI GWAS Catalog

Description
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104225

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular respiration IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in mitochondrial respiratory chain complex II assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial respiratory chain complex II assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of succinate dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
succinate dehydrogenase assembly factor 4, mitochondrial
Names
SDH assembly factor 4
UPF0369 protein C6orf57

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_145267.3NP_660310.2  succinate dehydrogenase assembly factor 4, mitochondrial precursor

    See identical proteins and their annotated locations for NP_660310.2

    Status: VALIDATED

    Source sequence(s)
    AL583856
    Consensus CDS
    CCDS4972.1
    UniProtKB/Swiss-Prot
    E1P532, Q5VUM1
    Related
    ENSP00000359505.3, ENST00000370474.4
    Conserved Domains (1) summary
    pfam07896
    Location:66108
    DUF1674; Protein of unknown function (DUF1674)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    70566930..70598428
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418210.1XP_047274166.1  succinate dehydrogenase assembly factor 4, mitochondrial isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    71747474..71770117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)