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    OXLD1 oxidoreductase like domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 339229, updated on 27-Nov-2024

    Summary

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    Official Symbol
    OXLD1provided by HGNC
    Official Full Name
    oxidoreductase like domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:27901
    See related
    Ensembl:ENSG00000204237 AllianceGenome:HGNC:27901
    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
    C17orf90
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 8.6), lymph node (RPKM 6.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OXLD1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81665036..81666605, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82581948..82583517, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79632066..79633635, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tetraspanin 10 Neighboring gene phosphodiesterase 6G Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79630511-79631145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79632831-79633752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79633753-79634674 Neighboring gene coiled-coil domain containing 137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9143 Neighboring gene Sharpr-MPRA regulatory region 13823 Neighboring gene ARF like GTPase 16

    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 genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    2. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article
    3. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    4. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    • MGC104712

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    oxidoreductase-like domain-containing protein 1

    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_001039842.3 → NP_001034931.1  oxidoreductase-like domain-containing protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC048102, BC090923, HY012937
      Consensus CDS
      CCDS32766.1
      UniProtKB/Swiss-Prot
      A6ND24, Q5BKU9
      Related
      ENSP00000363873.3, ENST00000374741.4
      Conserved Domains (1) summary
      pfam09791
      Location:79 → 107
      Oxidored-like; Oxidoreductase-like protein, N-terminal

    2. NM_001304994.2 → NP_001291923.1  oxidoreductase-like domain-containing protein 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      BC048102, HY012937, HY056467
      Conserved Domains (1) summary
      pfam09791
      Location:69 → 97
      Oxidored-like; Oxidoreductase-like protein, N-terminal

    3. NM_001304995.2 → NP_001291924.1  oxidoreductase-like domain-containing protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' terminal exon, resulting in an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      BC048102, BU194770, HY012937
      Consensus CDS
      CCDS77132.1
      UniProtKB/TrEMBL
      I3L208, I3L247
      Related
      ENSP00000466256.1, ENST00000571503.1

    4. NM_001304999.2 → NP_001291928.1  oxidoreductase-like domain-containing protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) is intronless and contains an additional segment, resulting in an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      BC038412, BC048102, HY012937
      Consensus CDS
      CCDS77132.1
      UniProtKB/TrEMBL
      I3L208, I3L247
      Related
      ENST00000575963.1

    RNA

    1. NR_130936.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC048102, HY012937

    2. NR_130937.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC048102, DT220680, HY012937

    3. NR_130938.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate splice site in the 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC048102, BE386163, HY012937

    4. NR_130939.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) contains an alternate 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC139530, BC038412, BC048102, CB048026

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81665036..81666605 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82581948..82583517 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5BKU9.1 GenPept UniProtKB/Swiss-Prot:Q5BKU9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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