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    SDR39U1 short chain dehydrogenase/reductase family 39U member 1 [ Homo sapiens (human) ]

    Gene ID: 56948, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SDR39U1provided by HGNC
    Official Full Name
    short chain dehydrogenase/reductase family 39U member 1provided by HGNC
    Primary source
    HGNC:HGNC:20275
    See related
    Ensembl:ENSG00000100445 MIM:616162; AllianceGenome:HGNC:20275
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HCDI; C14orf124
    Summary
    This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]
    Expression
    Ubiquitous expression in endometrium (RPKM 27.6), fat (RPKM 26.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SDR39U1 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24439766..24442843, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18638496..18641575, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24908972..24912049, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5642 Neighboring gene NYN domain and retroviral integrase containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24899891-24900454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24900455-24901016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24901017-24901578 Neighboring gene KH and NYN domain containing Neighboring gene cerebellin 3 precursor Neighboring gene uncharacterized LOC101927045 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24949129-24949670 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:24976080-24977279 Neighboring gene chymase 1

    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. Identification of the human testis protein phosphatase 1 interactome. Fardilha M, et al. Biochem Pharmacol, 2011 Nov 15. PMID 21382349
    2. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    3. Interactomic analysis reveals a homeostatic role for the HIV restriction factor TRIM5α in mitophagy. Saha B, et al. Cell Rep, 2022 May 10. PMID 35545034, Free PMC Article
    4. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, 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 (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    epimerase family protein SDR39U1

    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.

    Genomic

    1. NG_034031.1 RefSeqGene

      Range
      5130..8140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290292.3 → NP_001277221.1  epimerase family protein SDR39U1 isoform 2

      See identical proteins and their annotated locations for NP_001277221.1

      Status: REVIEWED

      Source sequence(s)
      AL132800
      Consensus CDS
      CCDS76665.1
      UniProtKB/TrEMBL
      F6RWC2
      Conserved Domains (1) summary
      cl21454
      Location:9 → 210
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001290293.3 → NP_001277222.1  epimerase family protein SDR39U1 isoform 3

      See identical proteins and their annotated locations for NP_001277222.1

      Status: REVIEWED

      Source sequence(s)
      AL132800
      Consensus CDS
      CCDS73626.1
      UniProtKB/TrEMBL
      G3V4Z0, Q86TZ5
      Related
      ENSP00000452438.1, ENST00000554698.5
      Conserved Domains (1) summary
      cl21454
      Location:2 → 184
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. NM_001308075.2 → NP_001295004.1  epimerase family protein SDR39U1 isoform 2

      See identical proteins and their annotated locations for NP_001295004.1

      Status: REVIEWED

      Source sequence(s)
      AL132800
      Consensus CDS
      CCDS76665.1
      UniProtKB/TrEMBL
      F6RWC2
      Related
      ENSP00000446077.2, ENST00000538105.6
      Conserved Domains (1) summary
      cl21454
      Location:9 → 210
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. NM_001387322.1 → NP_001374251.1  epimerase family protein SDR39U1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL132800
      Conserved Domains (1) summary
      cd05242
      Location:2 → 315
      SDR_a8; atypical (a) SDRs, subgroup 8

    5. NM_001387323.1 → NP_001374252.1  epimerase family protein SDR39U1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses the same exon combination as variant 11 but represents the allele encoded by the GRCh38 reference genome. The encoded isoform (6) has a longer N-terminus compared to isoform 10.
      Source sequence(s)
      AL132800
      Conserved Domains (1) summary
      cl21454
      Location:2 → 303
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    6. NM_001387324.1 → NP_001374253.1  epimerase family protein SDR39U1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL132800
      Conserved Domains (1) summary
      cd05242
      Location:2 → 290
      SDR_a8; atypical (a) SDRs, subgroup 8

    7. NM_001387325.1 → NP_001374254.1  epimerase family protein SDR39U1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL132800
      Conserved Domains (1) summary
      cd05242
      Location:2 → 263
      SDR_a8; atypical (a) SDRs, subgroup 8

    8. NM_001387326.1 → NP_001374255.1  epimerase family protein SDR39U1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL132800
      Conserved Domains (1) summary
      cl21454
      Location:2 → 250
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    9. NM_001387327.1 → NP_001374256.1  epimerase family protein SDR39U1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL132800
      Consensus CDS
      CCDS73626.1
      UniProtKB/TrEMBL
      G3V4Z0, Q86TZ5
      Conserved Domains (1) summary
      cl21454
      Location:2 → 184
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    10. NM_001412215.1 → NP_001399144.1  epimerase family protein SDR39U1 isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) uses the same exon combination as variant 6 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (10) has a shorter N-terminus compared to isoform 6.
      Source sequence(s)
      CP068264

    11. NM_020195.3 → NP_064580.2  epimerase family protein SDR39U1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL132800
      Consensus CDS
      CCDS45091.1
      UniProtKB/Swiss-Prot
      Q6ZW71, Q9BVQ3, Q9NRG7
      Related
      ENSP00000382327.3, ENST00000399395.8
      Conserved Domains (1) summary
      cd05242
      Location:2 → 292
      SDR_a8; atypical (a) SDRs, subgroup 8

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24439766..24442843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18638496..18641575 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRG7.3 GenPept UniProtKB/Swiss-Prot:Q9NRG7

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