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

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: mouse all
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Genomic context

Location:: 6q13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (70566930..70598428)
RS_2023_10	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_000006.12 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?

THADA, SDHAF4, and MACF1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes.
Title: THADA, SDHAF4, and MACF1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes.
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

EBI GWAS Catalog

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

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

D10S16 (e-PCR)
- UniSTS:155756

NoName (e-PCR)
- UniSTS:484495

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
involved_in mitochondrial respiratory chain complex II assembly	IGI Inferred from Genetic Interaction more info	PubMed

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

General protein information

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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)

NM_145267.3 → NP_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

UniProtKB/TrEMBL

I6L976

Related

ENSP00000359505.3, ENST00000370474.4

Conserved Domains (1) summary

pfam07896
Location:66 → 108

DUF1674; Protein of unknown function (DUF1674)