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HSDL1 hydroxysteroid dehydrogenase like 1 [ Homo sapiens (human) ]

Gene ID: 83693, updated on 3-Apr-2024

Summary

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Official Symbol
HSDL1provided by HGNC
Official Full Name
hydroxysteroid dehydrogenase like 1provided by HGNC
Primary source
HGNC:HGNC:16475
See related
Ensembl:ENSG00000103160 MIM:619067; AllianceGenome:HGNC:16475
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SDR12C3
Summary
Predicted to enable oxidoreductase activity. Located in intermediate filament cytoskeleton and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 18.3), brain (RPKM 13.0) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
16q24.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84122141..84145177, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90188232..90211260, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84155746..84178782, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11232 Neighboring gene MBTPS1 divergent transcript Neighboring gene polo like kinase 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84169151-84169748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84170943-84171538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7780 Neighboring gene dynein axonemal assembly factor 1 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit C Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84220503-84221003 Neighboring gene Sharpr-MPRA regulatory region 3417 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84227912-84229111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84229267-84229889 Neighboring gene splicing factor proline/glutamine-rich Neighboring gene adenosine deaminase domain containing 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A novel human hydroxysteroid dehydrogenase like 1 gene (HSDL1) is highly expressed in reproductive tissues. Huang Y, et al. Mol Biol Rep, 2001. PMID 12153137
  2. Human and zebrafish hydroxysteroid dehydrogenase like 1 (HSDL1) proteins are inactive enzymes but conserved among species. Meier M, et al. Chem Biol Interact, 2009 Mar 16. PMID 19026618
  3. Delineating WWOX Protein Interactome by Tandem Affinity Purification-Mass Spectrometry: Identification of Top Interactors and Key Metabolic Pathways Involved. Hussain T, et al. Front Oncol, 2018. PMID 30619736, Free PMC Article
  4. Cellular redox sensor HSCARG negatively regulates the translesion synthesis pathway and exacerbates mammary tumorigenesis. Zang W, et al. Proc Natl Acad Sci U S A, 2019 Dec 17. PMID 31796584, Free PMC Article
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  2. characterized the subcellular localization as well as the tissue distribution and performed a screen for putative substrates of HSDL1 enzymes
    Title: Human and zebrafish hydroxysteroid dehydrogenase like 1 (HSDL1) proteins are inactive enzymes but conserved among species.
  3. novel human hydroxysteroid dehydrogenase like 1 gene (HSDL1) located on human chromosome 16q24.2 is highly expressed in reproductive tissues [HSDL1]
    Title: A novel human hydroxysteroid dehydrogenase like 1 gene (HSDL1) is highly expressed in reproductive tissues.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC125994, MGC125995, MGC126032

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
NOT enables steroid dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
inactive hydroxysteroid dehydrogenase-like protein 1
Names
short chain dehydrogenase/reductase family 12C member 3
steroid dehydrogenase-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001146051.2 → NP_001139523.1  inactive hydroxysteroid dehydrogenase-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_001139523.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment in the coding region, compared to variant 1. The encoded isoform (b) is shorter compared to isoform a.
    Source sequence(s)
    AK025626, AK074878, AK299798, BC018084, BC104218, DB525323, DC306668, H40440
    Consensus CDS
    CCDS54046.1
    UniProtKB/TrEMBL
    I6L975
    Related
    ENSP00000407437.3, ENST00000434463.7
    Conserved Domains (2) summary
    PLN02780
    Location:20 → 252
    PLN02780; ketoreductase/ oxidoreductase
    cd05356
    Location:67 → 254
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

  2. NM_031463.5 → NP_113651.4  inactive hydroxysteroid dehydrogenase-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_113651.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK025626, AK074878, AY028377, BC018084, DB525323, DC306668, H40440
    Consensus CDS
    CCDS10942.1
    UniProtKB/Swiss-Prot
    B4DSL2, D3DUL4, Q3SXM4, Q3SXM5, Q8NC98, Q9BY22
    UniProtKB/TrEMBL
    I6L975
    Related
    ENSP00000219439.4, ENST00000219439.9
    Conserved Domains (1) summary
    cd05356
    Location:67 → 309
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    84122141..84145177 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256189.4 → XP_005256246.1  inactive hydroxysteroid dehydrogenase-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005256246.1

    UniProtKB/Swiss-Prot
    B4DSL2, D3DUL4, Q3SXM4, Q3SXM5, Q8NC98, Q9BY22
    UniProtKB/TrEMBL
    I6L975
    Conserved Domains (1) summary
    cd05356
    Location:67 → 309
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    90188232..90211260 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314092.1 → XP_054170067.1  inactive hydroxysteroid dehydrogenase-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B4DSL2, D3DUL4, Q3SXM4, Q3SXM5, Q8NC98, Q9BY22
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3SXM5.3 GenPept UniProtKB/Swiss-Prot:Q3SXM5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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