HSDL1 Gene (Protein Coding)

Hydroxysteroid Dehydrogenase Like 1

GC16M084123
GIFtS:
33
See more...

Aliases for HSDL1 Gene

Aliases for HSDL1 Gene

  • Hydroxysteroid Dehydrogenase Like 1 2 3 5
  • SDR12C3 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 12C Member 3 3 4
  • Inactive Hydroxysteroid Dehydrogenase-Like Protein 1 3 4
  • Short Chain Dehydrogenase/Reductase Family 12C, Member 3 2
  • Steroid Dehydrogenase-Like Protein 3
  • HSDL1 5

External Ids for HSDL1 Gene

Previous GeneCards Identifiers for HSDL1 Gene

  • GC16M082714
  • GC16M084155
  • GC16M069909

Summaries for HSDL1 Gene

GeneCards Summary for HSDL1 Gene

HSDL1 (Hydroxysteroid Dehydrogenase Like 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is HSD17B12.

Additional gene information for HSDL1 Gene

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 HSDL1 Gene

Genomics for HSDL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HSDL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSDL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSDL1

Top Transcription factor binding sites by QIAGEN in the HSDL1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB

Genomic Locations for HSDL1 Gene

Genomic Locations for HSDL1 Gene
chr16:84,122,139-84,145,195
(GRCh38/hg38)
Size:
23,057 bases
Orientation:
Minus strand
chr16:84,155,744-84,178,800
(GRCh37/hg19)
Size:
23,057 bases
Orientation:
Minus strand

Genomic View for HSDL1 Gene

Genes around HSDL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSDL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSDL1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HSDL1 Gene

Proteins for HSDL1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HSDL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SXM5-HSDL1_HUMAN
    Recommended name:
    Inactive hydroxysteroid dehydrogenase-like protein 1
    Protein Accession:
    Q3SXM5
    Secondary Accessions:
    • B4DSL2
    • D3DUL4
    • Q3SXM4
    • Q8NC98
    • Q9BY22

    Protein attributes for HSDL1 Gene

    Size:
    330 amino acids
    Molecular mass:
    37002 Da
    Quaternary structure:
    • Interacts with STYXL1.
    SequenceCaution:
    • Sequence=AAK15047.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAK16927.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for HSDL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSDL1 Gene

Protein Expression for HSDL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HSDL1 Gene

  • Ubiquitination at Lys81 and Lys109
  • Modification sites at PhosphoSitePlus

Other Protein References for HSDL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HSDL1 Gene

Domains & Families for HSDL1 Gene

Gene Families for HSDL1 Gene

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

Protein Domains for HSDL1 Gene

InterPro:
Blocks:
  • Short-chain dehydrogenase/reductase SDR
ProtoNet:

Suggested Antigen Peptide Sequences for HSDL1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52861, moderately similar to Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), mRNA (B4DSL2_HUMAN)
  • Inactive hydroxysteroid dehydrogenase-like protein 1 (HSDL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3SXM5

UniProtKB/Swiss-Prot:

HSDL1_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
genes like me logo Genes that share domains with HSDL1: view

Function for HSDL1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for HSDL1 Gene

Gene Ontology (GO) - Molecular Function for HSDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19026618
GO:0016229 NOT steroid dehydrogenase activity IDA 19026618
genes like me logo Genes that share ontologies with HSDL1: view
genes like me logo Genes that share phenotypes with HSDL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSDL1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HSDL1 Gene

Localization for HSDL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSDL1 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 HSDL1 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 4
plasma membrane 2
nucleus 1
cytosol 1
endoplasmic reticulum 0
lysosome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Intermediate filaments (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 19026618
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with HSDL1: view

Pathways & Interactions for HSDL1 Gene

PathCards logo

SuperPathways for HSDL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HSDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HSDL1: view

No data available for Pathways by source and SIGNOR curated interactions for HSDL1 Gene

Drugs & Compounds for HSDL1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for HSDL1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HSDL1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSDL1

Alternative Splicing Database (ASD) splice patterns (SP) for HSDL1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g ^ 8 ^ 9
SP1: - -
SP2: -
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: -
SP7: - - - - -

Relevant External Links for HSDL1 Gene

GeneLoc Exon Structure for
HSDL1

Expression for HSDL1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSDL1 Gene

mRNA expression in normal human tissues for HSDL1 Gene
mRNA expression by GTEx for HSDL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HSDL1 Gene

This gene is overexpressed in Breast (35.7) and Fetal Brain (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSDL1 Gene



Protein tissue co-expression partners for HSDL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSDL1

SOURCE GeneReport for Unigene cluster for HSDL1 Gene:

Hs.555992

mRNA Expression by UniProt/SwissProt for HSDL1 Gene:

Q3SXM5-HSDL1_HUMAN
Tissue specificity: Highly expressed in testis and ovary. Also detected in thyroid, spinal cord, adrenal gland, heart, placenta, skeletal muscle, small intestine, colon, spleen, prostate and pancreas.

Evidence on tissue expression from TISSUES for HSDL1 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with HSDL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSDL1 Gene

Orthologs for HSDL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSDL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia HSDL1 30 31
  • 99.29 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HSDL1 30 31
  • 88.48 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HSDL1 30 31
  • 85.05 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia HSDL1 31
  • 85 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Hsdl1 30
  • 81.41 (n)
Mouse
(Mus musculus)
 Mammalia Hsdl1 30 17 31
  • 81.21 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia HSDL1 31
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves HSDL1 30 31
  • 67.98 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia HSDL1 31
  • 60 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100489686 30
  • 58.04 (n)
Zebrafish
(Danio rerio)
 Actinopterygii hsdl1 30 31
  • 58.02 (n)
 OneToOne
Dr.18436 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4813 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008570 30
  • 49.6 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG31810 30 31
  • 48.61 (n)
 OneToMany
CG31809 31
  • 38 (a)
 OneToMany
CG13284 31
  • 37 (a)
 OneToMany
CG6012 31
  • 34 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea stdh-4 31
  • 36 (a)
 OneToMany
stdh-2 31
  • 31 (a)
 OneToMany
stdh-1 31
  • 31 (a)
 OneToMany
stdh-3 31
  • 30 (a)
 OneToMany
let-767 31
  • 29 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes IFA38 31
  • 26 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons KCR2 30
  • 48.57 (n)
Rice
(Oryza sativa)
 Liliopsida Os11g0432600 30
  • 52.04 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 42 (a)
 OneToOne
Species where no ortholog for HSDL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 HSDL1 Gene

ENSEMBL:
Gene Tree for HSDL1 (if available)
TreeFam:
Gene Tree for HSDL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSDL1: view image

Paralogs for HSDL1 Gene

Paralogs for HSDL1 Gene

(2) SIMAP similar genes for HSDL1 Gene using alignment to 5 proteins:

  • HSDL1_HUMAN
  • H3BNH5_HUMAN
  • H3BQI7_HUMAN
  • H3BT52_HUMAN
  • I6L975_HUMAN
genes like me logo Genes that share paralogs with HSDL1: view

Variants for HSDL1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSDL1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs11540436 - p.Pro248Ser
rs4378600 - p.Ser327Cys

Additional dbSNP identifiers (rs#s) for HSDL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HSDL1 Gene

Variant ID Type Subtype PubMed ID
esv2761930 CNV gain 21179565
nsv1059227 CNV loss 25217958
nsv1065790 CNV loss 25217958
nsv474424 CNV novel sequence insertion 20440878
nsv833309 CNV loss 17160897

Variation tolerance for HSDL1 Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.52; 82.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSDL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSDL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSDL1 Gene

Disorders for HSDL1 Gene

Additional Disease Information for HSDL1

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

No disorders were found for HSDL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HSDL1 Gene

Publications for HSDL1 Gene

  1. A novel human hydroxysteroid dehydrogenase like 1 gene (HSDL1) is highly expressed in reproductive tissues. (PMID: 12153137) Huang Y … Mao Y (Molecular biology reports 2001) 2 3 4 23
  2. Human and zebrafish hydroxysteroid dehydrogenase like 1 (HSDL1) proteins are inactive enzymes but conserved among species. (PMID: 19026618) Meier M … Adamski J (Chemico-biological interactions 2009) 3 4 23
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for HSDL1 gene in Mastermind

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Sources for HSDL1 Gene