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

    Gene ID: 83693, updated on 2-Nov-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
    Located in intermediate filament cytoskeleton and mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.3), brain (RPKM 13.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HSDL1 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84122141..84145177, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90188232..90211260, complement)
    RS_2024_09 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 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 (31) 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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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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