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

Gene ID: 56948, updated on 3-Apr-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
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Genomic context

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Location:
14q12
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24439766..24442843, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18638496..18641575, complement)
105.20220307 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
  • 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 (19) 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 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_2023_10

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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