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

Gene ID: 339229, updated on 2-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
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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 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)

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

  • 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

    See identical proteins and their annotated locations for NP_001034931.1

    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

    See identical proteins and their annotated locations for NP_001291924.1

    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

    See identical proteins and their annotated locations for NP_001291928.1

    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

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