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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
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Genomic context

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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

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