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Aliases for HSDL1 Gene

Aliases for HSDL1 Gene

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

External Ids for HSDL1 Gene

Previous GeneCards Identifiers for HSDL1 Gene

  • GC16M082714
  • 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSDL1 Gene

Genomics for HSDL1 Gene

GeneHancer (GH) Regulatory Elements for HSDL1 Gene

Promoters and enhancers for HSDL1 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
GH16I084144 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.4 392 2 PKNOX1 ATF1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ELK1 ZNF207 HSDL1 DNAAF1 MBTPS1 TAF1C ENSG00000261243 GC16M084122
GH16I084131 Promoter 0.6 EPDnew 550.4 +13.8 13838 0.1 DACH1 HSDL1 GC16M084122
GH16I084143 Enhancer 0.5 Ensembl 550.8 +1.9 1894 0.2 BCOR ZNF146 ZNF316 HDAC2 ZMYM3 ZNF24 ZBTB40 DNAAF1 HSDL1 GC16M084122
GH16I084115 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.9 +28.5 28525 2.8 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 MBTPS1 ENSG00000260018 DNAAF1 HSDL1 ENSG00000260859 CRISPLD2 TAF1C ENSG00000274677
GH16I085025 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 -882.9 -882915 5.4 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 KIAA0513 TAF1C HSDL1 ZDHHC7 LOC105371380
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSDL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSDL1 gene promoter:

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)

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 StructureGene Density

RefSeq DNA sequence for HSDL1 Gene

Proteins for HSDL1 Gene

  • 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK16927.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for HSDL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSDL1 Gene

Post-translational modifications for HSDL1 Gene

  • Ubiquitination at isoforms=281 and posLast=109109

Other Protein References for HSDL1 Gene

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

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

Phenotypes From GWAS Catalog for HSDL1 Gene

genes like me logo Genes that share phenotypes with HSDL1: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
plasma membrane 2
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HSDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with HSDL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSDL1 Gene

Pathways & Interactions for HSDL1 Gene

SuperPathways for HSDL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HSDL1 Gene

None

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

Drugs & Compounds for HSDL1 Gene

No Compound Related Data Available

Transcripts for HSDL1 Gene

Unigene Clusters for HSDL1 Gene

Hydroxysteroid dehydrogenase like 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
HSDL1

Expression for HSDL1 Gene

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

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, PaxDb, MaxQB, and MOPED for HSDL1 Gene



Protein tissue co-expression partners for HSDL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSDL1 Gene:

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 expression in embryonic tissues and stem cells from LifeMap Discovery , 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 33 34
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia HSDL1 33 34
  • 88.48 (n)
cow
(Bos Taurus)
Mammalia HSDL1 33 34
  • 85.05 (n)
oppossum
(Monodelphis domestica)
Mammalia HSDL1 34
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsdl1 33
  • 81.41 (n)
mouse
(Mus musculus)
Mammalia Hsdl1 33 16 34
  • 81.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HSDL1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSDL1 33 34
  • 67.98 (n)
lizard
(Anolis carolinensis)
Reptilia HSDL1 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489686 33
  • 58.04 (n)
zebrafish
(Danio rerio)
Actinopterygii hsdl1 33 34
  • 58.02 (n)
Dr.18436 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4813 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008570 33
  • 49.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31810 34 33
  • 48.61 (n)
OneToMany
CG31809 34
  • 38 (a)
OneToMany
CG13284 34
  • 37 (a)
OneToMany
CG6012 34
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea stdh-4 34
  • 36 (a)
OneToMany
stdh-1 34
  • 31 (a)
OneToMany
stdh-2 34
  • 31 (a)
OneToMany
stdh-3 34
  • 30 (a)
OneToMany
let-767 34
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IFA38 34
  • 26 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons KCR2 33
  • 48.57 (n)
rice
(Oryza sativa)
Liliopsida Os11g0432600 33
  • 52.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
Species where no ortholog for HSDL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for HSDL1 Gene

Paralogs for HSDL1 Gene

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

genes like me logo Genes that share paralogs with HSDL1: view

Variants for HSDL1 Gene

Sequence variations from dbSNP and Humsavar for HSDL1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1013979175 uncertain-significance, Primary ciliary dyskinesia 84,145,341(-) G/A upstream_transcript_variant
rs140245131 uncertain-significance, Primary ciliary dyskinesia 84,145,313(-) G/C upstream_transcript_variant
rs149813685 likely-benign, Primary ciliary dyskinesia 84,145,358(-) T/TT upstream_transcript_variant
rs551990619 benign, Primary ciliary dyskinesia, not specified 84,145,552(-) G/A/C upstream_transcript_variant
rs558403928 uncertain-significance, Primary ciliary dyskinesia 84,145,269(-) G/A upstream_transcript_variant

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

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

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 22 58
  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 22 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for HSDL1 Gene

Sources for HSDL1 Gene

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