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    CXorf38 chromosome X open reading frame 38 [ Homo sapiens (human) ]

    Gene ID: 159013, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CXorf38provided by HGNC
    Official Full Name
    chromosome X open reading frame 38provided by HGNC
    Primary source
    HGNC:HGNC:28589
    See related
    Ensembl:ENSG00000185753 MIM:301117; AllianceGenome:HGNC:28589
    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
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 5.9), thyroid (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CXorf38 in Genome Data Viewer
    Location:
    Xp11.4
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (40626921..40647561, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (40028466..40048779, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (40486173..40506813, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20763 Neighboring gene ATPase H+ transporting accessory protein 2 Neighboring gene mitochondrial pyruvate carrier 1 like Neighboring gene Sharpr-MPRA regulatory region 4034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20764 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:40506849-40507029 Neighboring gene mediator complex subunit 14 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:40535358-40535509 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:40537853-40538063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20766 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:40594164-40595085 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:40595086-40596006 Neighboring gene MED14 opposite strand Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29551 Neighboring gene divergent-paired related homeobox pseudogene 6

    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. Single-gene knockout-coupled omics analysis identifies C9orf85 and CXorf38 as two uncharacterized human proteins associated with ZIP8 malfunction. Tan HW, et al. Front Mol Biosci, 2022. PMID 36330220, Free PMC Article
    2. Endoglin Protein Interactome Profiling Identifies TRIM21 and Galectin-3 as New Binding Partners. Gallardo-Vara E, et al. Cells, 2019 Sep 13. PMID 31540324, Free PMC Article
    3. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    4. Comprehensive analysis of the HEPN superfamily: identification of novel roles in intra-genomic conflicts, defense, pathogenesis and RNA processing. Anantharaman V, et al. Biol Direct, 2013 Jun 15. PMID 23768067, Free PMC Article
    5. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article

    See all (14) 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

    • MGC39350

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein CXorf38

    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.

    Genomic

    1. NG_016376.1 RefSeqGene

      Range
      5007..25647
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330455.2 → NP_001317384.1  uncharacterized protein CXorf38 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses alternate splice sites in its UTRs, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC092473, AC093029
      Consensus CDS
      CCDS83467.1
      UniProtKB/Swiss-Prot
      Q8TB03
      Related
      ENSP00000367683.1, ENST00000378426.5

    2. NM_144970.3 → NP_659407.1  uncharacterized protein CXorf38 isoform 1

      See identical proteins and their annotated locations for NP_659407.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC092473, BC025334, BM969708, CV572553, DB207233
      Consensus CDS
      CCDS14253.1
      UniProtKB/Swiss-Prot
      B3KW28, D3DWB5, Q5JPF5, Q8N941, Q8TB03
      UniProtKB/TrEMBL
      B2RD30
      Related
      ENSP00000330488.5, ENST00000327877.10
      Conserved Domains (1) summary
      pfam15112
      Location:9 → 310
      DUF4559; Domain of unknown function (DUF4559)

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      40626921..40647561 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441871.1 → XP_047297827.1  uncharacterized protein CXorf38 isoform X5

    2. XM_017029303.2 → XP_016884792.1  uncharacterized protein CXorf38 isoform X3

      UniProtKB/TrEMBL
      B2RD30
      Conserved Domains (1) summary
      pfam15112
      Location:9 → 265
      DUF4559; Domain of unknown function (DUF4559)

    3. XM_006724528.3 → XP_006724591.1  uncharacterized protein CXorf38 isoform X3

      UniProtKB/TrEMBL
      B2RD30
      Conserved Domains (1) summary
      pfam15112
      Location:9 → 265
      DUF4559; Domain of unknown function (DUF4559)

    4. XM_017029302.2 → XP_016884791.2  uncharacterized protein CXorf38 isoform X2

    5. XM_006724527.5 → XP_006724590.2  uncharacterized protein CXorf38 isoform X4

      UniProtKB/TrEMBL
      B2RD30
      Conserved Domains (1) summary
      pfam15112
      Location:9 → 250
      DUF4559; Domain of unknown function (DUF4559)

    6. XM_005272589.4 → XP_005272646.2  uncharacterized protein CXorf38 isoform X1

      See identical proteins and their annotated locations for XP_005272646.2

      UniProtKB/Swiss-Prot
      B3KW28, D3DWB5, Q5JPF5, Q8N941, Q8TB03
      UniProtKB/TrEMBL
      B2RD30
      Conserved Domains (1) summary
      pfam15112
      Location:9 → 310
      DUF4559; Domain of unknown function (DUF4559)

    7. XM_047441872.1 → XP_047297828.1  uncharacterized protein CXorf38 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      40028466..40048779 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326561.1 → XP_054182536.1  uncharacterized protein CXorf38 isoform X5

    2. XM_054326559.1 → XP_054182534.1  uncharacterized protein CXorf38 isoform X3

    3. XM_054326558.1 → XP_054182533.1  uncharacterized protein CXorf38 isoform X3

    4. XM_054326557.1 → XP_054182532.1  uncharacterized protein CXorf38 isoform X2

    5. XM_054326560.1 → XP_054182535.1  uncharacterized protein CXorf38 isoform X4

    6. XM_054326556.1 → XP_054182531.1  uncharacterized protein CXorf38 isoform X1

      UniProtKB/Swiss-Prot
      B3KW28, D3DWB5, Q5JPF5, Q8N941, Q8TB03
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TB03.1 GenPept UniProtKB/Swiss-Prot:Q8TB03

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