Aliases for SDR42E1 Gene

Aliases for SDR42E1 Gene

  • Short Chain Dehydrogenase/Reductase Family 42E, Member 1 2 3 5
  • Short-Chain Dehydrogenase/Reductase Family 42E Member 1 3 4
  • HSPC105 2 3
  • EC 1.1.1.37 51
  • EC 1.1.1.- 4
  • EC 1.1.1 51
  • SDR42E1 5

External Ids for SDR42E1 Gene

Previous GeneCards Identifiers for SDR42E1 Gene

  • GC16M080590
  • GC16M082031
  • GC16M067784

Summaries for SDR42E1 Gene

GeneCards Summary for SDR42E1 Gene

SDR42E1 (Short Chain Dehydrogenase/Reductase Family 42E, Member 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and 3-beta-hydroxy-delta5-steroid dehydrogenase activity. An important paralog of this gene is SDR42E2.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SDR42E1 Gene

Genomics for SDR42E1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SDR42E1 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
GH16J082010 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 266.3 +0.4 375 2.1 ZNF217 ZBTB7B ELF1 HCFC1 GABPA EBF1 GABPB1 CTBP1 SIN3A ZBTB40 SDR42E1 LOC112268169 HSALNG0113025 PLCG2
GH16J082033 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 16.1 -24.3 -24327 5.1 MXD4 HOMEZ FOXA2 ZNF511 SMAD4 SAP130 RXRA MIER3 ETV4 RARA HSD17B2 SDR42E1 LOC105371363 ENSG00000261235 MPHOSPH6
GH16J082138 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.8 -127.5 -127539 1.5 ZNF217 MBD2 CTBP1 YY1 GATA3 SMARCE1 FOXA1 ZBTB33 RFX1 NCOA3 ENSG00000261235 HSALNG0113031 piR-33432-223 piR-33605-192 MPHOSPH6 SDR42E1 MTCYBP28 HSD17B2
GH16J082051 Enhancer 0.9 Ensembl ENCODE 15.3 -40.4 -40432 2.1 CEBPA SAP130 RXRA TEAD3 THRB BCL6 JUND KDM1A SOX5 HNF4A SDR42E1 LOC105371363 HSD17B2 ENSG00000261235 MPHOSPH6
GH16J082055 Enhancer 1.2 Ensembl ENCODE dbSUPER 11 -44.7 -44662 1.6 CEBPA HOMEZ KDM6A FOXA2 SAP130 RXRA MIER3 ZSCAN9 ETV4 RARA HSD17B2 SDR42E1 LOC105371363 ENSG00000261235 MPHOSPH6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SDR42E1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SDR42E1

Top Transcription factor binding sites by QIAGEN in the SDR42E1 gene promoter:
  • Cdc5
  • En-1
  • GR-alpha
  • HNF-1
  • HNF-1A
  • MyoD
  • Pax-4a
  • RORalpha1
  • RORalpha2
  • S8

Genomic Locations for SDR42E1 Gene

Latest Assembly
chr16:81,988,855-82,011,526
(GRCh38/hg38)
Size:
22,672 bases
Orientation:
Minus strand

Previous Assembly
chr16:82,022,460-82,045,075
(GRCh37/hg19 by Entrez Gene)
Size:
22,616 bases
Orientation:
Minus strand

chr16:82,031,221-82,045,093
(GRCh37/hg19 by Ensembl)
Size:
13,873 bases
Orientation:
Minus strand

Genomic View for SDR42E1 Gene

Genes around SDR42E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDR42E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDR42E1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDR42E1 Gene

Proteins for SDR42E1 Gene

  • Protein details for SDR42E1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUS8-D42E1_HUMAN
    Recommended name:
    Short-chain dehydrogenase/reductase family 42E member 1
    Protein Accession:
    Q8WUS8
    Secondary Accessions:
    • B2RDS1
    • Q9P0D1

    Protein attributes for SDR42E1 Gene

    Size:
    393 amino acids
    Molecular mass:
    44284 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=EAW95521.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for SDR42E1 Gene

Selected DME Specific Peptides for SDR42E1 Gene

Q8WUS8:
  • ASYGMSGREQLN
  • DHYSRTK
  • GDESLPYLP
  • PVNNFEFFRPLVEGLGY
  • AGIYGPGEQRHLPRI
  • VEWFKAHGHGR
  • GQPYFISDG
  • VPRLVYTSTFNVIFGGQ
  • KTGVTHYF
  • LEKAKKEL

Post-translational modifications for SDR42E1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SDR42E1 Gene

Domains & Families for SDR42E1 Gene

Gene Families for SDR42E1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SDR42E1 Gene

InterPro:
Blocks:
  • 3-beta hydroxysteroid dehydrogenase/isomerase
ProtoNet:

Suggested Antigen Peptide Sequences for SDR42E1 Gene

GenScript: Design optimal peptide antigens:
  • Short-chain dehydrogenase/reductase family 42E member 1 (D42E1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WUS8

UniProtKB/Swiss-Prot:

D42E1_HUMAN :
  • Belongs to the 3-beta-HSD family.
Family:
  • Belongs to the 3-beta-HSD family.
genes like me logo Genes that share domains with SDR42E1: view

Function for SDR42E1 Gene

Enzyme Numbers (IUBMB) for SDR42E1 Gene

Phenotypes From GWAS Catalog for SDR42E1 Gene

Gene Ontology (GO) - Molecular Function for SDR42E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA,IBA 21873635
genes like me logo Genes that share ontologies with SDR42E1: view
genes like me logo Genes that share phenotypes with SDR42E1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDR42E1

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SDR42E1 Gene

Localization for SDR42E1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDR42E1 Gene

Membrane. Multi-pass membrane protein.

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 SDR42E1 gene
Compartment Confidence
peroxisome 2
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1
golgi apparatus 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for SDR42E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SDR42E1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SDR42E1 Gene

Pathways & Interactions for SDR42E1 Gene

PathCards logo

SuperPathways for SDR42E1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SDR42E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with SDR42E1: view

No data available for Pathways by source and SIGNOR curated interactions for SDR42E1 Gene

Drugs & Compounds for SDR42E1 Gene

No Compound Related Data Available

Transcripts for SDR42E1 Gene

mRNA/cDNA for SDR42E1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDR42E1

Alternative Splicing Database (ASD) splice patterns (SP) for SDR42E1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1: -
SP2:
SP3: - -

Relevant External Links for SDR42E1 Gene

GeneLoc Exon Structure for
SDR42E1

Expression for SDR42E1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SDR42E1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SDR42E1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x6.9) and Skin - Not Sun Exposed (Suprapubic) (x6.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SDR42E1

SOURCE GeneReport for Unigene cluster for SDR42E1 Gene:

Hs.87779

Evidence on tissue expression from TISSUES for SDR42E1 Gene

  • Blood(4)
genes like me logo Genes that share expression patterns with SDR42E1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SDR42E1 Gene

Orthologs for SDR42E1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SDR42E1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SDR42E1 30 31
  • 99.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SDR42E1 30 31
  • 88.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SDR42E1 30 31
  • 85.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sdr42e1 30 17 31
  • 78.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sdr42e1 30
  • 78.71 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SDR42E1 31
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SDR42E1 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SDR42E1 30 31
  • 69.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SDR42E1 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sdr42e1 30
  • 62.47 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32536 30
Zebrafish
(Danio rerio)
Actinopterygii sdr42e1 30 31
  • 62.65 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea hsd-3 31
  • 26 (a)
ManyToMany
hsd-2 31
  • 25 (a)
ManyToMany
hsd-1 31
  • 21 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 31
  • 30 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G33630 30
  • 50.27 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0715200 30
  • 52.65 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9296 31
  • 41 (a)
OneToMany
Species where no ortholog for SDR42E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SDR42E1 Gene

ENSEMBL:
Gene Tree for SDR42E1 (if available)
TreeFam:
Gene Tree for SDR42E1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SDR42E1: view image

Paralogs for SDR42E1 Gene

Paralogs for SDR42E1 Gene

(2) SIMAP similar genes for SDR42E1 Gene using alignment to 2 proteins:

  • D42E1_HUMAN
  • E9PQ06_HUMAN
genes like me logo Genes that share paralogs with SDR42E1: view

Variants for SDR42E1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SDR42E1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs16956174 - p.Lys96Glu
rs3813012 - p.Gly320Asp
rs6564956 - p.Ser10Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SDR42E1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SDR42E1 Gene

Variant ID Type Subtype PubMed ID
esv2660861 CNV deletion 23128226
esv3639348 CNV loss 21293372

Variation tolerance for SDR42E1 Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.75; 83.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SDR42E1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDR42E1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDR42E1 Gene

Disorders for SDR42E1 Gene

Additional Disease Information for SDR42E1

No disorders were found for SDR42E1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SDR42E1 Gene

Publications for SDR42E1 Gene

  1. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 4
  2. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M … Gstaiger M (Cell reports 2013) 3
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. A whole genome screen for HIV restriction factors. (PMID: 22082156) Liu L … McKnight A (Retrovirology 2011) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3

Products for SDR42E1 Gene

Sources for SDR42E1 Gene