Aliases for RSAD1 Gene

Aliases for RSAD1 Gene

  • Radical S-Adenosyl Methionine Domain Containing 1 2 3 5
  • Radical S-Adenosyl Methionine Domain-Containing Protein 1, Mitochondrial 3 4
  • Putative Heme Chaperone 3 4
  • Oxygen-Independent Coproporphyrinogen-III Oxidase-Like Protein RSAD1 3
  • EC 1.3.99.22 52
  • EC 1.3.99 52
  • HemW 3

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. Diseases associated with RSAD1 include Coffin-Siris Syndrome 1. Gene Ontology (GO) annotations related to this gene include 4 iron, 4 sulfur cluster binding and coproporphyrinogen oxidase activity.

UniProtKB/Swiss-Prot Summary for RSAD1 Gene

  • May be a heme chaperone, appears to bind heme. Homologous bacterial proteins do not have oxygen-independent coproporphyrinogen-III oxidase activity (Probable). Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine (By similarity).

Additional gene information for RSAD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH17J050477 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 515.1 +0.2 181 2.4 EP300 HNRNPK ZBTB40 ZNF217 CTCF NRF1 MYC USF1 POLR2G NCOR1 RSAD1 lnc-CHAD-1 piR-58345 ACSF2 CHAD MYCBPAP ENSG00000275897
GH17J050423 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 25.4 -51.8 -51807 6.9 EP300 FOXK2 CTCF NRF1 POLR2G USF1 NCOR1 JUND FOS ZIC2 ACSF2 RSAD1 CHAD ENSG00000253102 LRRC59 CACNA1G-AS1 EPN3 MYCBPAP CACNA1G XYLT2
GH17J050507 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.9 +31.1 31055 5.3 SIN3A SP1 PHF8 JUND CTCF POLR2A RFX1 RELA MXI1 ZNF341 MYCBPAP ENSG00000249451 EPN3 RSAD1 ACSF2 ENSG00000250286 SPATA20 CACNA1G CACNA1G-AS1 CHAD
GH17J050458 Enhancer 1.3 Ensembl ENCODE dbSUPER 13.9 -20.0 -19999 2.4 EP300 TRIM28 SKI TBX3 ZSCAN9 FOXA2 OSR2 WT1 CEBPB ZBTB17 RF00017-2443 ACSF2 RSAD1 CHAD SPATA20 HSALNG0117299
GH17J050469 Promoter/Enhancer 1.2 EPDnew Ensembl dbSUPER 12.9 -9.7 -9699 1 MXI1 EZH2 VEZF1 ZBTB33 AGO2 MAX SUZ12 CHAD ACSF2 RSAD1 SPATA20 HSALNG0117299
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RSAD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RSAD1

Top Transcription factor binding sites by QIAGEN in the RSAD1 gene promoter:
  • Brachyury
  • HNF-4alpha1
  • HNF-4alpha2
  • MRF-2
  • NF-1
  • NF-1/L
  • p53
  • Pax-2
  • Pax-2a

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)
Size:
7,176 bases
Orientation:
Plus strand

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
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Might carry two S-adenosyl-L-methionine binding sites with only one binding to the iron-sulfur cluster.

    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 Lys331
  • 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

Protein Domains for RSAD1 Gene

Blocks:
  • Elongator protein 3/MiaB/NifB
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSAD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58916, moderately similar to Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA (B4DMW0_HUMAN)
  • Oxygen-independent coproporphyrinogen-III oxidase-like protein RSAD1 (RSAD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HA92

UniProtKB/Swiss-Prot:

RSAD1_HUMAN :
  • Belongs to the anaerobic coproporphyrinogen-III oxidase family. HemW subfamily.
Family:
  • Belongs to the anaerobic coproporphyrinogen-III oxidase family. HemW subfamily.
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 a heme chaperone, appears to bind heme. Homologous bacterial proteins do not have oxygen-independent coproporphyrinogen-III oxidase activity (Probable). Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine (By similarity).

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: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:
  • Rsad1 Rsad1<tm1.1(KOMP)Vlcg>

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
plasma membrane 2
nucleus 2
cytosol 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

PathCards logo

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, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with RSAD1: view

Transcripts for RSAD1 Gene

mRNA/cDNA for RSAD1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for RSAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for RSAD1 Gene



Protein tissue co-expression partners for RSAD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RSAD1 31 30
  • 86.95 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RSAD1 30
  • 86.37 (n)
mouse
(Mus musculus)
Mammalia Rsad1 17 31 30
  • 84.25 (n)
rat
(Rattus norvegicus)
Mammalia Rsad1 30
  • 84.25 (n)
oppossum
(Monodelphis domestica)
Mammalia RSAD1 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSAD1 31
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSAD1 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rsad1 30
  • 64.22 (n)
zebrafish
(Danio rerio)
Actinopterygii rsad1 31 30
  • 59.66 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for RSAD1: view image

Paralogs for RSAD1 Gene

No data available for Paralogs for RSAD1 Gene

Variants for RSAD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RSAD1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs2290861 - p.Leu126Ser
rs2290862 - p.Ala119Thr
rs9891176 - p.Glu354Gln

Additional dbSNP identifiers (rs#s) for RSAD1 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for RSAD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
coffin-siris syndrome 1
  • css1
- elite association - COSMIC cancer census association via MalaCards
Search RSAD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RSAD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RSAD1: view

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

Publications for RSAD1 Gene

  1. The radical SAM protein HemW is a heme chaperone. (PMID: 29282292) Haskamp V … Jahn D (The Journal of biological chemistry 2018) 2 3 4 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair. (PMID: 29229926) Lu H … Bohr VA (Nature communications 2017) 3 54

Products for RSAD1 Gene

Sources for RSAD1 Gene