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

Gene ID: 135154, updated on 24-Nov-2020

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
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
Expression
Ubiquitous expression in fat (RPKM 12.9), brain (RPKM 11.1) and 25 other tissues See more
Orthologs

Genomic context

See SDHAF4 in Genome Data Viewer
Location:
6q13
Exon count:
3
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (70566930..70589569)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (71276625..71298606)

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

Associated conditions

Description Tests
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
GeneReviews: Not available

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
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to succinate dehydrogenase (ubiquinone) activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
cellular respiration IGI
Inferred from Genetic Interaction
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain complex II assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex II assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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)

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
    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 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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    70566930..70589569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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