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OXR1 oxidation resistance 1 [ Homo sapiens (human) ]

Gene ID: 55074, updated on 6-Sep-2022

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 neuron death; and negative regulation of peptidyl-cysteine S-nitrosylation. Predicted to be located in mitochondrion and nucleolus. Predicted to be active in nucleus. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 30.5), testis (RPKM 21.8) and 24 other tissues See more
Orthologs
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Genomic context

See OXR1 in Genome Data Viewer
Location:
8q23.1
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (106270178..106752694)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (107398439..107880522)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (107282406..107764922)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12229 Neighboring gene solute carrier family 16 member 14 pseudogene 1 Neighboring gene OXR1 antisense RNA 1 Neighboring gene transgelin 2 pseudogene 1 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
  • 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

Homology

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
 
Component Evidence Code Pubs
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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
    Q8N573, 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/Swiss-Prot
    Q8N573
    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/Swiss-Prot
    Q8N573
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)