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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. 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

Regulatory Elements for HSDL1 Gene

Enhancers for HSDL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H085025 1.7 FANTOM5 ENCODE dbSUPER 10.5 -882.9 -882915 5 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 ENSG00000261243 TAF1C KLHL36 KIAA0513 RN7SL381P ZDHHC7 ENSG00000270184 RNU1-103P HSDL1 TLDC1
GH16H084115 1.4 ENCODE dbSUPER 11.9 +28.5 28525 2 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 TAF1C MBTPS1 HSDL1 DNAAF1 ENSG00000260859 CRISPLD2 ENSG00000274677
GH16H084722 1.5 Ensembl ENCODE dbSUPER 10 -580.5 -580475 5 ARNT ARID4B SIN3A YBX1 FEZF1 TCF12 ELK1 GATA2 ZNF143 ATF7 COTL1 KLHL36 USP10 HSDL1 KIAA0513 ZDHHC7 LOC105371378
GH16H084099 1.3 Ensembl ENCODE dbSUPER 11 +45.4 45391 1 FEZF1 CEBPG RFX5 FOSL1 GATA3 ZNF366 FOSL2 FOS ATF7 RUNX3 HSDL1 DNAAF1 MBTPS1 ENSG00000274677
GH16H083993 1.4 Ensembl ENCODE dbSUPER 10.1 +150.8 150775 1 ELF3 ARID4B DNMT3B HSF1 RCOR1 FOS ATF7 THAP11 CEBPB SMARCB1 NECAB2 KLHL36 SLC38A8 RNA5SP432 OSGIN1 MLYCD ENSG00000261243 TAF1C ADAD2 ENSG00000260859
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSDL1 on UCSC Golden Path with GeneCards custom track

Promoters for HSDL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000088758 395 2000 PKNOX1 ATF1 FOXA2 ARID4B SIN3A DMAP1 ELK1 ZNF143 ZNF207 ATF7

Genomic Location for HSDL1 Gene

Chromosome:
16
Start:
84,122,139 bp from pter
End:
84,145,195 bp from pter
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 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
  • Modification sites at PhosphoSitePlus

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HSDL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HSDL1 Gene

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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HSDL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 33 34
  • 48.61 (n)
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 Sequence Context AA Info Type
rs369581422 Likely benign 84,145,422(+) GCGTT(C/T)GGTGT nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs886052365 Likely benign 84,145,358(+) TCTCT(-/T)GGCTG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs140245131 Uncertain significance 84,145,313(+) GTAAA(C/G)ACTAG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs558403928 Uncertain significance 84,145,269(+) CGCGT(A/G)CGCAG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs886052362 Uncertain significance 84,145,295(+) CCGGG(C/G)AAGCG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links 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

Relevant External Links for HSDL1

Genetic Association Database (GAD)
HSDL1
Human Genome Epidemiology (HuGE) Navigator
HSDL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSDL1

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 60
  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 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for HSDL1 Gene

Sources for HSDL1 Gene

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