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

Gene ID: 56948, updated on 21-Dec-2019

Summary

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
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

Genomic context

See SDR39U1 in Genome Data Viewer
Location:
14q12
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24439765..24442905, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24908972..24912042, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NYN domain and retroviral integrase containing Neighboring gene KH and NYN domain containing Neighboring gene cerebellin 3 precursor Neighboring gene uncharacterized LOC101927045 Neighboring gene chymase 1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
coenzyme binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus HDA PubMed 

General protein information

Preferred Names
epimerase family protein SDR39U1

NCBI Reference Sequences (RefSeq)

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
    5001..8140
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001277221.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region and an alternate coding exon, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 2 and 4 encode the same isoform.
    Source sequence(s)
    AL132800, BC000989, BX161384, CN406892
    Consensus CDS
    CCDS76665.1
    UniProtKB/Swiss-Prot
    Q9NRG7
    UniProtKB/TrEMBL
    F6RWC2, Q86TZ5
    Conserved Domains (1) summary
    cl21454
    Location:9210
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. NM_001290293.2NP_001277222.1  epimerase family protein SDR39U1 isoform 3

    See identical proteins and their annotated locations for NP_001277222.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, uses an alternate splice site, and initiates translation at an alternate start codon compared to variant 1. The encoded protein (isoform 3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    BC008566, BX161384, DB443637, DT220226
    Consensus CDS
    CCDS73626.1
    UniProtKB/TrEMBL
    Q86TZ5
    Related
    ENSP00000452438.1, ENST00000554698.5
    Conserved Domains (1) summary
    cl21454
    Location:2184
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  3. NM_001308075.1NP_001295004.1  epimerase family protein SDR39U1 isoform 2

    See identical proteins and their annotated locations for NP_001295004.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks a portion of the 5' coding region, lacks an alternate coding exon, and initiates translation at an alternate start codon compared to variant 1. It encodes isoform 2, which has a distinct N-terminus and is shorter than isoform 1. Variants 2 and 4 encode the same isoform.
    Source sequence(s)
    AF226050, CR995681, DT220226
    Consensus CDS
    CCDS76665.1
    UniProtKB/Swiss-Prot
    Q9NRG7
    UniProtKB/TrEMBL
    F6RWC2
    Related
    ENSP00000446077.2, ENST00000538105.6
    Conserved Domains (1) summary
    cl21454
    Location:9210
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  4. NM_020195.2NP_064580.2  epimerase family protein SDR39U1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    BC000989, BI256676, BX161384
    Consensus CDS
    CCDS45091.1
    UniProtKB/Swiss-Prot
    Q9NRG7
    UniProtKB/TrEMBL
    Q86TZ5
    Related
    ENSP00000382327.3, ENST00000399395.7
    Conserved Domains (1) summary
    cd05242
    Location:2292
    SDR_a8; atypical (a) SDRs, subgroup 8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    24439765..24442905 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536975.2XP_011535277.1  epimerase family protein SDR39U1 isoform X1

    Conserved Domains (2) summary
    cd05242
    Location:2315
    SDR_a8; atypical (a) SDRs, subgroup 8
    TIGR01777
    Location:3311
    yfcH; TIGR01777 family protein
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