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    RSAD1 radical S-adenosyl methionine domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55316, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RSAD1provided by HGNC
    Official Full Name
    radical S-adenosyl methionine domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25634
    See related
    Ensembl:ENSG00000136444 MIM:620590; AllianceGenome:HGNC:25634
    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
    HemW
    Summary
    Enables heme binding activity. Predicted to be involved in porphyrin-containing compound biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 14.5), spleen (RPKM 11.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RSAD1 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50478860..50485974)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51345956..51353075)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48556221..48563335)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase family member 2 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48545198-48546156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48546157-48547114 Neighboring gene chondroadherin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8699 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48557048-48557434 Neighboring gene Sharpr-MPRA regulatory region 9450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8701 Neighboring gene MYCBP associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48610962-48611638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48611639-48612315 Neighboring gene uncharacterized LOC105371824 Neighboring gene epsin 3

    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. FAM46C and FNDC3A Are Multiple Myeloma Tumor Suppressors That Act in Concert to Impair Clearing of Protein Aggregates and Autophagy. Manfrini N, et al. Cancer Res, 2020 Nov 1. PMID 32963011
    2. ARIH2 Is a Vif-Dependent Regulator of CUL5-Mediated APOBEC3G Degradation in HIV Infection. Hüttenhain R, et al. Cell Host Microbe, 2019 Jul 10. PMID 31253590, Free PMC Article
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article
    4. Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair. Lu H, et al. Nat Commun, 2017 Dec 11. PMID 29229926, Free PMC Article
    5. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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

    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

    Clone Names

    • FLJ11164, FLJ20975

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables coproporphyrinogen oxidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in porphyrin-containing compound biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    radical S-adenosyl methionine domain-containing protein 1, mitochondrial
    Names
    oxygen-independent coproporphyrinogen-III oxidase-like protein RSAD1
    putative heme chaperone

    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_018346.3 → NP_060816.1  radical S-adenosyl methionine domain-containing protein 1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_060816.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
      Source sequence(s)
      AK002026, AK022105
      Consensus CDS
      CCDS11569.1
      UniProtKB/Swiss-Prot
      B4DMW0, Q53HV8, Q86VC4, Q9BRY7, Q9HA92, Q9NUS7
      Related
      ENSP00000258955.2, ENST00000258955.7
      Conserved Domains (1) summary
      PRK09057
      Location:41 → 345
      PRK09057; coproporphyrinogen III oxidase; Provisional

    RNA

    1. NR_130911.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks four internal exons and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK022105, AK297655

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50478860..50485974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51345956..51353075
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HA92.2 GenPept UniProtKB/Swiss-Prot:Q9HA92

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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