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

    Gene ID: 317671, updated on 27-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
    • 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)

    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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