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RFESD Rieske Fe-S domain containing [ Homo sapiens (human) ]

Gene ID: 317671, updated on 2-Nov-2024

Summary

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Official Symbol
RFESDprovided by HGNC
Official Full Name
Rieske Fe-S domain containingprovided by HGNC
Primary source
HGNC:HGNC:29587
See related
Ensembl:ENSG00000175449 AllianceGenome:HGNC:29587
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
Summary
Predicted to enable 2 iron, 2 sulfur cluster binding activity. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 3.0), bone marrow (RPKM 2.4) and 24 other tissues See more
Orthologs
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Genomic context

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See RFESD in Genome Data Viewer
Location:
5q15
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (95646777..95658082)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (96147700..96159005)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (94982481..94993786)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:94955347-94955962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16183 Neighboring gene Sharpr-MPRA regulatory region 2204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:94957159-94957658 Neighboring gene uncharacterized LOC112267933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22798 Neighboring gene G protein-coupled receptor 150 Neighboring gene spermatogenesis associated 9 Neighboring gene uncharacterized LOC105379090 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:95051904-95052077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22799 Neighboring gene Rho related BTB domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22801 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Decoding the fine-scale structure of a breast cancer genome and transcriptome. Volik S, et al. Genome Res, 2006 Mar. PMID 16461635, Free PMC Article
  2. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article
  3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
  4. Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery. Havugimana PC, et al. Nat Commun, 2022 Jul 13. PMID 35831314, Free PMC Article
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
Rieske domain-containing protein

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_001131065.1 → NP_001124537.1  Rieske domain-containing protein isoform 1

    See identical proteins and their annotated locations for NP_001124537.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC035110, BC048979, BM263054, BX114571
    Consensus CDS
    CCDS47248.1
    UniProtKB/Swiss-Prot
    Q8TAC1
    Related
    ENSP00000413592.1, ENST00000458310.2
    Conserved Domains (1) summary
    cd03467
    Location:71 → 149
    Rieske; Rieske domain; a [2Fe-2S] cluster binding domain commonly found in Rieske non-heme iron oxygenase (RO) systems such as naphthalene and biphenyl dioxygenases, as well as in plant/cyanobacterial chloroplast b6f and mitochondrial cytochrome bc(1) complexes. ...

  2. NM_001131066.2 → NP_001124538.1  Rieske domain-containing protein isoform 1

    See identical proteins and their annotated locations for NP_001124538.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AC008547, BC035110, BI551847, BX114571, DN914641
    Consensus CDS
    CCDS47248.1
    UniProtKB/Swiss-Prot
    Q8TAC1
    Related
    ENSP00000369341.4, ENST00000380005.9
    Conserved Domains (1) summary
    cd03467
    Location:71 → 149
    Rieske; Rieske domain; a [2Fe-2S] cluster binding domain commonly found in Rieske non-heme iron oxygenase (RO) systems such as naphthalene and biphenyl dioxygenases, as well as in plant/cyanobacterial chloroplast b6f and mitochondrial cytochrome bc(1) complexes. ...

  3. NM_001375394.1 → NP_001362323.1  Rieske domain-containing protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC008547
    Consensus CDS
    CCDS4075.1
    UniProtKB/Swiss-Prot
    J3KPH1, Q8TAC1
    Related
    ENSP00000422520.2, ENST00000511684.6
    Conserved Domains (1) summary
    cd03467
    Location:18 → 96
    Rieske; Rieske domain; a [2Fe-2S] cluster binding domain commonly found in Rieske non-heme iron oxygenase (RO) systems such as naphthalene and biphenyl dioxygenases, as well as in plant/cyanobacterial chloroplast b6f and mitochondrial cytochrome bc(1) complexes. ...

  4. NM_173362.3 → NP_775498.1  Rieske domain-containing protein isoform 2

    See identical proteins and their annotated locations for NP_775498.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, compared to variant 1, that results in the use of an in-frame downstream start codon. The encoded protein (isoform 2) is has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC035110, BC048979, BX114571
    Consensus CDS
    CCDS4075.1
    UniProtKB/Swiss-Prot
    J3KPH1, Q8TAC1
    Related
    ENSP00000309229.4, ENST00000311364.9
    Conserved Domains (1) summary
    cd03467
    Location:18 → 96
    Rieske; Rieske domain; a [2Fe-2S] cluster binding domain commonly found in Rieske non-heme iron oxygenase (RO) systems such as naphthalene and biphenyl dioxygenases, as well as in plant/cyanobacterial chloroplast b6f and mitochondrial cytochrome bc(1) complexes. ...

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
    95646777..95658082
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009413.2 → XP_016864902.1  Rieske domain-containing protein isoform X1

    UniProtKB/Swiss-Prot
    Q8TAC1
    Conserved Domains (1) summary
    cd03467
    Location:71 → 149
    Rieske; Rieske domain; a [2Fe-2S] cluster binding domain commonly found in Rieske non-heme iron oxygenase (RO) systems such as naphthalene and biphenyl dioxygenases, as well as in plant/cyanobacterial chloroplast b6f and mitochondrial cytochrome bc(1) complexes. ...

  2. XM_011543360.3 → XP_011541662.1  Rieske domain-containing protein isoform X1

    See identical proteins and their annotated locations for XP_011541662.1

    UniProtKB/Swiss-Prot
    Q8TAC1
    Conserved Domains (1) summary
    cd03467
    Location:71 → 149
    Rieske; Rieske domain; a [2Fe-2S] cluster binding domain commonly found in Rieske non-heme iron oxygenase (RO) systems such as naphthalene and biphenyl dioxygenases, as well as in plant/cyanobacterial chloroplast b6f and mitochondrial cytochrome bc(1) complexes. ...

  3. XM_047417137.1 → XP_047273093.1  Rieske domain-containing protein isoform X2

    UniProtKB/Swiss-Prot
    J3KPH1, Q8TAC1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    96147700..96159005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352489.1 → XP_054208464.1  Rieske domain-containing protein isoform X1

  2. XM_054352488.1 → XP_054208463.1  Rieske domain-containing protein isoform X1

  3. XM_054352490.1 → XP_054208465.1  Rieske domain-containing protein isoform X2

    UniProtKB/Swiss-Prot
    J3KPH1, Q8TAC1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TAC1.1 GenPept UniProtKB/Swiss-Prot:Q8TAC1

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