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NOXRED1 NADP dependent oxidoreductase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 122945, updated on 5-Mar-2024

Summary

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Official Symbol
NOXRED1provided by HGNC
Official Full Name
NADP dependent oxidoreductase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:20487
See related
Ensembl:ENSG00000165555 AllianceGenome:HGNC:20487
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
C14orf148
Summary
Predicted to enable pyrroline-5-carboxylate reductase activity. Predicted to be involved in L-proline biosynthetic process. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 2.5), thyroid (RPKM 0.4) and 15 other tissues See more
Orthologs
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Genomic context

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Location:
14q24.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77394021..77426013, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71603400..71635393, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77860364..77889866, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene transmembrane p24 trafficking protein family member 8 Neighboring gene ATP binding cassette subfamily G member 2 (Junior blood group) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8800 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:77846838-77847018 Neighboring gene sterile alpha motif domain containing 15 Neighboring gene HNF1 motif-containing MPRA enhancer 277 Neighboring gene VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77923742-77924264 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77924265-77924787 Neighboring gene activator of HSP90 ATPase activity 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. Genetic variants in glutamine metabolic pathway genes predict cutaneous melanoma-specific survival. Chen K, et al. Mol Carcinog, 2019 Nov. PMID 31435991, Free PMC Article
  2. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

See all (11) 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

Clone Names

  • FLJ32809

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables pyrroline-5-carboxylate reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in L-proline biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
NADP-dependent oxidoreductase domain-containing protein 1
Names
pyrroline-5-carboxylate reductase-like protein C14orf148

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_001113475.3 → NP_001106946.1  NADP-dependent oxidoreductase domain-containing protein 1

    See identical proteins and their annotated locations for NP_001106946.1

    Status: VALIDATED

    Source sequence(s)
    AC007954, AF111168
    Consensus CDS
    CCDS45142.1
    UniProtKB/Swiss-Prot
    B3KQ47, O95435, Q6NXP6
    Related
    ENSP00000370215.2, ENST00000380835.7
    Conserved Domains (1) summary
    COG0345
    Location:78 → 189
    ProC; Pyrroline-5-carboxylate reductase [Amino acid transport and metabolism]

  2. NM_001394980.1 → NP_001381909.1  NADP-dependent oxidoreductase domain-containing protein 1

    Status: VALIDATED

    Source sequence(s)
    AC007954, AF111168
    Consensus CDS
    CCDS45142.1
    UniProtKB/Swiss-Prot
    B3KQ47, O95435, Q6NXP6
    Conserved Domains (1) summary
    COG0345
    Location:78 → 189
    ProC; Pyrroline-5-carboxylate reductase [Amino acid transport and metabolism]

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
    77394021..77426013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536429.4 → XP_011534731.1  NADP-dependent oxidoreductase domain-containing protein 1 isoform X2

    Conserved Domains (1) summary
    COG0345
    Location:29 → 99
    ProC; Pyrroline-5-carboxylate reductase [Amino acid transport and metabolism]

  2. XM_011536428.4 → XP_011534730.1  NADP-dependent oxidoreductase domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011534730.1

    UniProtKB/Swiss-Prot
    B3KQ47, O95435, Q6NXP6
    Conserved Domains (1) summary
    COG0345
    Location:78 → 189
    ProC; Pyrroline-5-carboxylate reductase [Amino acid transport and metabolism]

  3. XM_005267330.5 → XP_005267387.1  NADP-dependent oxidoreductase domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005267387.1

    UniProtKB/Swiss-Prot
    B3KQ47, O95435, Q6NXP6
    Conserved Domains (1) summary
    COG0345
    Location:78 → 189
    ProC; Pyrroline-5-carboxylate reductase [Amino acid transport and metabolism]

  4. XM_017020969.3 → XP_016876458.1  NADP-dependent oxidoreductase domain-containing protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    71603400..71635393 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375396.1 → XP_054231371.1  NADP-dependent oxidoreductase domain-containing protein 1 isoform X2

  2. XM_054375394.1 → XP_054231369.1  NADP-dependent oxidoreductase domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B3KQ47, O95435, Q6NXP6

  3. XM_054375395.1 → XP_054231370.1  NADP-dependent oxidoreductase domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B3KQ47, O95435, Q6NXP6

  4. XM_054375397.1 → XP_054231372.1  NADP-dependent oxidoreductase domain-containing protein 1 isoform X3

  5. XM_054375398.1 → XP_054231373.1  NADP-dependent oxidoreductase domain-containing protein 1 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138791.1: Suppressed sequence

    Description
    NM_138791.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6NXP6.2 GenPept UniProtKB/Swiss-Prot:Q6NXP6

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