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    OXR1 oxidation resistance 1 [ Homo sapiens (human) ]

    Gene ID: 55074, updated on 28-Oct-2024

    Summary

    Official Symbol
    OXR1provided by HGNC
    Official Full Name
    oxidation resistance 1provided by HGNC
    Primary source
    HGNC:HGNC:15822
    See related
    Ensembl:ENSG00000164830 MIM:605609; AllianceGenome:HGNC:15822
    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
    TLDC3; CHEGDD; Nbla00307
    Summary
    Predicted to enable oxidoreductase activity. Predicted to be involved in response to oxidative stress. Predicted to act upstream of or within several processes, including adult walking behavior; negative regulation of cellular response to oxidative stress; and negative regulation of peptidyl-cysteine S-nitrosylation. Located in mitochondrion. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 30.5), testis (RPKM 21.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See OXR1 in Genome Data Viewer
    Location:
    8q23.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (106270178..106752694)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (107398439..107880522)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (107282406..107764922)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902003 Neighboring gene Sharpr-MPRA regulatory region 12229 Neighboring gene solute carrier family 16 member 14 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27799 Neighboring gene OXR1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:107672614-107673114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:107673115-107673615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:107676087-107676587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27802 Neighboring gene MPRA-validated peak7139 silencer Neighboring gene transgelin 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27803 Neighboring gene RNA, U7 small nuclear 84 pseudogene Neighboring gene uncharacterized LOC124902004 Neighboring gene actin binding Rho activating protein

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10125, FLJ38829, FLJ40849, FLJ41673, FLJ42450, FLJ45656

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hydroperoxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of peptidyl-cysteine S-nitrosylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to oxidative stress NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    oxidation resistance protein 1
    Names
    TBC/LysM-associated domain containing 3
    putative protein product of Nbla00307

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001198532.1NP_001185461.1  oxidation resistance protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001185461.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AK296561, BM668428, FN650108
      Consensus CDS
      CCDS56548.1
      UniProtKB/Swiss-Prot
      A6NK11, A8KA34, B3KXL1, B7Z402, B7Z8N5, D3HIS6, Q3LIB5, Q6ZVK9, Q8N573, Q8N8V0, Q9H266, Q9NWC7
      Related
      ENSP00000405424.2, ENST00000442977.6
      Conserved Domains (3) summary
      smart00584
      Location:712874
      TLDc; domain in TBC and LysM domain containing proteins
      COG1388
      Location:72143
      LysM; LysM repeat [Cell wall/membrane/envelope biogenesis]
      pfam01476
      Location:101143
      LysM; LysM domain
    2. NM_001198533.2NP_001185462.1  oxidation resistance protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001185462.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 5' sequence, compared to variant 3. The resulting isoform (4) has a distinct and one aa shorter N-terminus, as compared to isoform 3.
      Source sequence(s)
      AC023344, AC027031, AC090579, AP000430, AP002090
      Consensus CDS
      CCDS56547.1
      UniProtKB/Swiss-Prot
      Q8N573
      Related
      ENSP00000429205.2, ENST00000517566.7
      Conserved Domains (3) summary
      smart00584
      Location:711873
      TLDc; domain in TBC and LysM domain containing proteins
      COG1388
      Location:71142
      LysM; LysM repeat [Cell wall/membrane/envelope biogenesis]
      pfam01476
      Location:100142
      LysM; LysM domain
    3. NM_001198534.1NP_001185463.1  oxidation resistance protein 1 isoform 5

      See identical proteins and their annotated locations for NP_001185463.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks multiple 5' exons and has an alternate 5' exon, compared to variant 3. The resulting isoform (5) has a distinct and much shorter N-terminus, as compared to isoform 3.
      Source sequence(s)
      AB075503, BC032710, BM668428, DC366184, FN650108
      Consensus CDS
      CCDS56549.1
      UniProtKB/TrEMBL
      B7Z833
      Related
      ENSP00000297447.6, ENST00000297447.10
      Conserved Domains (1) summary
      smart00584
      Location:81243
      TLDc; domain in TBC and LysM domain containing proteins
    4. NM_001198535.1NP_001185464.1  oxidation resistance protein 1 isoform 6

      See identical proteins and their annotated locations for NP_001185464.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks multiple 5' exons and an internal in-frame exon, and has an alternate 5' exon, compared to variant 3. The resulting isoform (6) has a distinct and much shorter N-terminus and lacks an internal segment, as compared to isoform 3.
      Source sequence(s)
      BM668428, DC366184, FN650108, FN650109
      Consensus CDS
      CCDS56550.1
      UniProtKB/TrEMBL
      B7Z833
      Related
      ENSP00000408659.2, ENST00000449762.6
      Conserved Domains (1) summary
      smart00584
      Location:54216
      TLDc; domain in TBC and LysM domain containing proteins
    5. NM_018002.3NP_060472.2  oxidation resistance protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) has an alternate 5' sequence and lacks an internal in-frame exon, compared to variant 3. The resulting isoform (1) has a distinct and one aa shorter N-terminus and lacks an internal segment, as compared to isoform 3.
      Source sequence(s)
      AK124441, BC032710, BM668428, DA232248, FN650108
      Consensus CDS
      CCDS47909.1
      UniProtKB/Swiss-Prot
      Q8N573
      Related
      ENSP00000431966.1, ENST00000531443.6
      Conserved Domains (3) summary
      smart00584
      Location:684846
      TLDc; domain in TBC and LysM domain containing proteins
      COG1388
      Location:71142
      LysM; LysM repeat [Cell wall/membrane/envelope biogenesis]
      pfam01476
      Location:100142
      LysM; LysM domain
    6. NM_181354.4NP_851999.2  oxidation resistance protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' sequence and lacks an internal in-frame exon, compared to variant 3. The resulting isoform (2) has a distinct and shorter N-terminus and lacks an internal segment, as compared to isoform 3.
      Source sequence(s)
      AC023344, BC032710, BM682193, DA544318
      Consensus CDS
      CCDS6304.2
      UniProtKB/Swiss-Prot
      Q8N573
      Related
      ENSP00000311026.6, ENST00000312046.10
      Conserved Domains (3) summary
      smart00584
      Location:677839
      TLDc; domain in TBC and LysM domain containing proteins
      COG1388
      Location:93135
      LysM; LysM repeat [Cell wall/membrane/envelope biogenesis]
      pfam01476
      Location:93135
      LysM; LysM domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      106270178..106752694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716595.3XP_006716658.1  oxidation resistance protein 1 isoform X2

      Conserved Domains (3) summary
      smart00584
      Location:685847
      TLDc; domain in TBC and LysM domain containing proteins
      COG1388
      Location:72143
      LysM; LysM repeat [Cell wall/membrane/envelope biogenesis]
      pfam01476
      Location:101143
      LysM; LysM domain
    2. XM_017013591.2XP_016869080.1  oxidation resistance protein 1 isoform X4

    3. XM_047421919.1XP_047277875.1  oxidation resistance protein 1 isoform X8

    4. XM_017013590.2XP_016869079.1  oxidation resistance protein 1 isoform X3

    5. XM_047421918.1XP_047277874.1  oxidation resistance protein 1 isoform X7

    6. XM_017013589.3XP_016869078.1  oxidation resistance protein 1 isoform X1

    7. XM_017013593.3XP_016869082.1  oxidation resistance protein 1 isoform X6

    8. XM_017013592.2XP_016869081.1  oxidation resistance protein 1 isoform X5

    9. XM_047421920.1XP_047277876.1  oxidation resistance protein 1 isoform X9

    10. XM_047421921.1XP_047277877.1  oxidation resistance protein 1 isoform X10

    11. XM_047421922.1XP_047277878.1  oxidation resistance protein 1 isoform X11

      Related
      ENSP00000430701.2, ENST00000519415.6

    RNA

    1. XR_001745547.2 RNA Sequence

    2. XR_007060735.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      107398439..107880522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360734.1XP_054216709.1  oxidation resistance protein 1 isoform X2

    2. XM_054360736.1XP_054216711.1  oxidation resistance protein 1 isoform X4

    3. XM_054360740.1XP_054216715.1  oxidation resistance protein 1 isoform X8

    4. XM_054360735.1XP_054216710.1  oxidation resistance protein 1 isoform X3

    5. XM_054360739.1XP_054216714.1  oxidation resistance protein 1 isoform X7

    6. XM_054360733.1XP_054216708.1  oxidation resistance protein 1 isoform X1

    7. XM_054360738.1XP_054216713.1  oxidation resistance protein 1 isoform X6

    8. XM_054360737.1XP_054216712.1  oxidation resistance protein 1 isoform X5

    9. XM_054360741.1XP_054216716.1  oxidation resistance protein 1 isoform X9

    10. XM_054360742.1XP_054216717.1  oxidation resistance protein 1 isoform X10

    11. XM_054360743.1XP_054216718.1  oxidation resistance protein 1 isoform X11

    RNA

    1. XR_008487853.1 RNA Sequence

    2. XR_008487854.1 RNA Sequence