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

Gene ID: 55316, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 14.5), spleen (RPKM 11.7) and 25 other tissues See more
Orthologs
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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.

Chemical Information
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