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    SDR42E1 short chain dehydrogenase/reductase family 42E, member 1 [ Homo sapiens (human) ]

    Gene ID: 93517, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SDR42E1provided by HGNC
    Official Full Name
    short chain dehydrogenase/reductase family 42E, member 1provided by HGNC
    Primary source
    HGNC:HGNC:29834
    See related
    Ensembl:ENSG00000184860 MIM:616164; AllianceGenome:HGNC:29834
    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
    HSPC105
    Summary
    Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in skin (RPKM 2.8), duodenum (RPKM 2.0) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SDR42E1 in Genome Data Viewer
    Location:
    16q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (81988855..82011470, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (88052572..88075187, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (82022460..82045075, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene phospholipase C gamma 2 Neighboring gene uncharacterized LOC124903731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81864849-81865430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81865431-81866012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81933783-81934284 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:81946417-81946916 Neighboring gene NANOG hESC enhancer GRCh37_chr16:82009174-82009740 Neighboring gene RN7SK pseudogene 176 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:82011207-82011762 Neighboring gene uncharacterized LOC112268169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11226 Neighboring gene HSD17B2 antisense RNA 1 Neighboring gene hydroxysteroid 17-beta dehydrogenase 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:82103975-82105174 Neighboring gene MT-CYB pseudogene 28

    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. Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome. Bouhouche A, et al. Exp Eye Res, 2021 Aug. PMID 34133966
    2. A systematic survey of loss-of-function variants in human protein-coding genes. MacArthur DG, et al. Science, 2012 Feb 17. PMID 22344438, Free PMC Article
    3. Identification of a large set of rare complete human knockouts. Sulem P, et al. Nat Genet, 2015 May. PMID 25807282
    4. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Rausell A, et al. Proc Natl Acad Sci U S A, 2020 Jun 16. PMID 32487729, Free PMC Article
    5. The mutational constraint spectrum quantified from variation in 141,456 humans. Karczewski KJ, et al. Nature, 2020 May. PMID 32461654, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In silico characterization of the novel SDR42E1 as a potential vitamin D modulator.
      Title: In silico characterization of the novel SDR42E1 as a potential vitamin D modulator.
    2. Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome.
      Title: Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome.
    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    short-chain dehydrogenase/reductase family 42E member 1
    NP_660151.2
    XP_005256314.1
    XP_011521773.1
    XP_047290881.1
    XP_054170411.1
    XP_054170412.1
    XP_054170413.1

    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_145168.3 → NP_660151.2  short-chain dehydrogenase/reductase family 42E member 1

      See identical proteins and their annotated locations for NP_660151.2

      Status: VALIDATED

      Source sequence(s)
      AC092142, AK026740, BC019670, BX482154, CB851753
      Consensus CDS
      CCDS42205.1
      UniProtKB/Swiss-Prot
      B2RDS1, Q8WUS8, Q9P0D1
      Related
      ENSP00000332407.4, ENST00000328945.7
      Conserved Domains (2) summary
      cd09812
      Location:10 → 350
      3b-HSD_like_1_SDR_e; 3beta-hydroxysteroid dehydrogenase (3b-HSD)-like, subgroup1, extended (e) SDRs
      pfam01073
      Location:12 → 283
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

    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
      81988855..82011470 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256257.5 → XP_005256314.1  short-chain dehydrogenase/reductase family 42E member 1 isoform X1

      See identical proteins and their annotated locations for XP_005256314.1

      UniProtKB/Swiss-Prot
      B2RDS1, Q8WUS8, Q9P0D1
      Conserved Domains (2) summary
      cd09812
      Location:10 → 350
      3b-HSD_like_1_SDR_e; 3beta-hydroxysteroid dehydrogenase (3b-HSD)-like, subgroup1, extended (e) SDRs
      pfam01073
      Location:12 → 283
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

    2. XM_011523471.4 → XP_011521773.1  short-chain dehydrogenase/reductase family 42E member 1 isoform X2

      See identical proteins and their annotated locations for XP_011521773.1

      Conserved Domains (1) summary
      cd09812
      Location:21 → 347
      3b-HSD_like_1_SDR_e; 3beta-hydroxysteroid dehydrogenase (3b-HSD)-like, subgroup1, extended (e) SDRs

    3. XM_047434925.1 → XP_047290881.1  short-chain dehydrogenase/reductase family 42E member 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      88052572..88075187 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314436.1 → XP_054170411.1  short-chain dehydrogenase/reductase family 42E member 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RDS1, Q8WUS8, Q9P0D1

    2. XM_054314437.1 → XP_054170412.1  short-chain dehydrogenase/reductase family 42E member 1 isoform X2

    3. XM_054314438.1 → XP_054170413.1  short-chain dehydrogenase/reductase family 42E member 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUS8.2 GenPept UniProtKB/Swiss-Prot:Q8WUS8

    Gene LinkOut

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

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