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Aliases for RSAD1 Gene

Aliases for RSAD1 Gene

  • Radical S-Adenosyl Methionine Domain Containing 1 2 3 5
  • Oxygen-Independent Coproporphyrinogen-III Oxidase-Like Protein RSAD1 4
  • EC 1.3.99.22 56
  • EC 1.3.99.- 4
  • EC 1.3.99 56

External Ids for RSAD1 Gene

Previous GeneCards Identifiers for RSAD1 Gene

  • GC17P045912
  • GC17P048556
  • GC17P043924

Summaries for RSAD1 Gene

GeneCards Summary for RSAD1 Gene

RSAD1 (Radical S-Adenosyl Methionine Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include 4 iron, 4 sulfur cluster binding and coproporphyrinogen oxidase activity.

UniProtKB/Swiss-Prot for RSAD1 Gene

  • May be involved in porphyrin cofactor biosynthesis.

Additional gene information for RSAD1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSAD1 Gene

Genomics for RSAD1 Gene

GeneHancer (GH) Regulatory Elements for RSAD1 Gene

Promoters and enhancers for RSAD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I050477 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 565.2 +0.2 174 2.4 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZNF143 DEK RSAD1 PIR52344 ACSF2 CHAD MYCBPAP ENSG00000275897
GH17I050423 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.4 -51.8 -51807 6.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ACSF2 MBTD1 ENSG00000262837 RSAD1 UTP18 XYLT2 CHAD ENSG00000253102 FAM117A LRRC59
GH17I050507 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.9 +31.2 31228 5 HDGF PKNOX1 ATF1 SIN3A BATF IRF4 ZNF121 ZNF143 ATF7 RCOR1 MYCBPAP ENSG00000249451 EPN3 RSAD1 ACSF2 LOC105371824 SPATA20 CACNA1G CACNA1G-AS1 CHAD
GH17I050467 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 15.3 -9.9 -9878 2.9 ZNF335 GLIS1 MAX ZBTB33 ZIC2 EZH2 ZBTB17 CHAD ACSF2 RSAD1 SPATA20 EPN3 MRPS21P9
GH17I050458 Enhancer 1.1 ENCODE dbSUPER 13.9 -19.8 -19786 1.9 FOXA2 MLX ZFP64 ARID4B ZNF48 YY1 GLIS2 FOS RXRA SP5 ACSF2 RSAD1 CHAD SPATA20 MRPS21P9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RSAD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RSAD1 gene promoter:

Genomic Locations for RSAD1 Gene

Genomic Locations for RSAD1 Gene
chr17:50,478,800-50,502,164
(GRCh38/hg38)
Size:
23,365 bases
Orientation:
Plus strand
chr17:48,556,161-48,563,336
(GRCh37/hg19)

Genomic View for RSAD1 Gene

Genes around RSAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSAD1 Gene

Proteins for RSAD1 Gene

  • Protein details for RSAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HA92-RSAD1_HUMAN
    Recommended name:
    Radical S-adenosyl methionine domain-containing protein 1, mitochondrial
    Protein Accession:
    Q9HA92
    Secondary Accessions:
    • B4DMW0
    • Q53HV8
    • Q86VC4
    • Q9BRY7
    • Q9NUS7

    Protein attributes for RSAD1 Gene

    Size:
    442 amino acids
    Molecular mass:
    48714 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RSAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSAD1 Gene

Selected DME Specific Peptides for RSAD1 Gene

Q9HA92:
  • YCNFNKY
  • LYVHWPYC
  • RGLRCSWEGL
  • GGGTPSL

Post-translational modifications for RSAD1 Gene

  • Ubiquitination at posLast=331331
  • Modification sites at PhosphoSitePlus

Other Protein References for RSAD1 Gene

Domains & Families for RSAD1 Gene

Gene Families for RSAD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9HA92

UniProtKB/Swiss-Prot:

RSAD1_HUMAN :
  • Belongs to the anaerobic coproporphyrinogen-III oxidase family.
Family:
  • Belongs to the anaerobic coproporphyrinogen-III oxidase family.
genes like me logo Genes that share domains with RSAD1: view

Function for RSAD1 Gene

Molecular function for RSAD1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in porphyrin cofactor biosynthesis.

Enzyme Numbers (IUBMB) for RSAD1 Gene

Phenotypes From GWAS Catalog for RSAD1 Gene

Gene Ontology (GO) - Molecular Function for RSAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004109 coproporphyrinogen oxidase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
GO:0051539 4 iron, 4 sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with RSAD1: view
genes like me logo Genes that share phenotypes with RSAD1: view

Animal Models for RSAD1 Gene

MGI Knock Outs for RSAD1:

Animal Model Products

miRNA for RSAD1 Gene

miRTarBase miRNAs that target RSAD1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RSAD1 Gene

Localization for RSAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSAD1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RSAD1 gene
Compartment Confidence
mitochondrion 4
nucleus 3
cytosol 3
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RSAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with RSAD1: view

Pathways & Interactions for RSAD1 Gene

SuperPathways for RSAD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RSAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with RSAD1: view

No data available for Pathways by source and SIGNOR curated interactions for RSAD1 Gene

Drugs & Compounds for RSAD1 Gene

(1) Additional Compounds for RSAD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
genes like me logo Genes that share compounds with RSAD1: view

Transcripts for RSAD1 Gene

Unigene Clusters for RSAD1 Gene

Radical S-adenosyl methionine domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSAD1 Gene

No ASD Table

Relevant External Links for RSAD1 Gene

GeneLoc Exon Structure for
RSAD1
ECgene alternative splicing isoforms for
RSAD1

Expression for RSAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RSAD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RSAD1 Gene

This gene is overexpressed in Cervix (45.6) and Skin (23.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RSAD1 Gene



Protein tissue co-expression partners for RSAD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RSAD1 Gene:

RSAD1

SOURCE GeneReport for Unigene cluster for RSAD1 Gene:

Hs.8033

Evidence on tissue expression from TISSUES for RSAD1 Gene

  • Nervous system(4.7)
  • Intestine(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with RSAD1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RSAD1 Gene

Orthologs for RSAD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RSAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RSAD1 33 34
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia RSAD1 33 34
  • 86.95 (n)
dog
(Canis familiaris)
Mammalia RSAD1 33
  • 86.37 (n)
mouse
(Mus musculus)
Mammalia Rsad1 33 16 34
  • 84.25 (n)
rat
(Rattus norvegicus)
Mammalia Rsad1 33
  • 84.25 (n)
oppossum
(Monodelphis domestica)
Mammalia RSAD1 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSAD1 34
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSAD1 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rsad1 33
  • 64.22 (n)
zebrafish
(Danio rerio)
Actinopterygii rsad1 33 34
  • 59.66 (n)
Species where no ortholog for RSAD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RSAD1 Gene

ENSEMBL:
Gene Tree for RSAD1 (if available)
TreeFam:
Gene Tree for RSAD1 (if available)

Paralogs for RSAD1 Gene

No data available for Paralogs for RSAD1 Gene

Variants for RSAD1 Gene

Sequence variations from dbSNP and Humsavar for RSAD1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000136382 -- 50,479,539(+) GGGGTGGGGGTGGGG/GGGGTGGGG intron_variant
rs1000176049 -- 50,481,556(+) T/C intron_variant
rs1000580099 -- 50,479,839(+) A/C intron_variant
rs1000696835 -- 50,481,310(+) C/T intron_variant
rs1001075304 -- 50,485,672(+) C/G 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RSAD1 Gene

Variant ID Type Subtype PubMed ID
nsv2081 CNV deletion 18451855

Variation tolerance for RSAD1 Gene

Residual Variation Intolerance Score: 33.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.92; 67.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RSAD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSAD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSAD1 Gene

Disorders for RSAD1 Gene

Additional Disease Information for RSAD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RSAD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RSAD1 Gene

Publications for RSAD1 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for RSAD1 Gene

Sources for RSAD1 Gene

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