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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
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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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