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

    Gene ID: 122945, updated on 10-Dec-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, Dec 2024]
    Expression
    Broad expression in testis (RPKM 2.5), thyroid (RPKM 0.4) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NOXRED1 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77394021..77426013, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71603400..71635393, complement)
    RS_2024_09 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 (JR 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)

    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_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
      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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