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    RBMXL1 RBMX like 1 [ Homo sapiens (human) ]

    Gene ID: 494115, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RBMXL1provided by HGNC
    Official Full Name
    RBMX like 1provided by HGNC
    Primary source
    HGNC:HGNC:25073
    See related
    Ensembl:ENSG00000213516 AllianceGenome:HGNC:25073
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RBM1
    Summary
    This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009]
    Expression
    Ubiquitous expression in ovary (RPKM 8.0), endometrium (RPKM 6.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See RBMXL1 in Genome Data Viewer
    Location:
    1p22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (88979456..88992629, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (88822848..88836026, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (89445139..89458312, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene general transcription factor IIB Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1293 Neighboring gene shieldin complex subunit 1 pseudogene Neighboring gene kynurenine aminotransferase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:89456881-89457544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1052 Neighboring gene uncharacterized LOC124904215 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:89487936-89489135 Neighboring gene guanylate binding protein 3

    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. Extensive gene traffic on the mammalian X chromosome. Emerson JJ, et al. Science, 2004 Jan 23. PMID 14739461
    2. Transcriptional control of CBX5 by the RNA binding proteins RBMX and RBMXL1 maintains chromatin state in myeloid leukemia. Prieto C, et al. Nat Cancer, 2021 Jul. PMID 34458856, Free PMC Article
    3. Emergence of young human genes after a burst of retroposition in primates. Marques AC, et al. PLoS Biol, 2005 Nov. PMID 16201836, Free PMC Article
    4. GRAMD4 inhibits tumour metastasis by recruiting the E3 ligase ITCH to target TAK1 for degradation in hepatocellular carcinoma. Ge QY, et al. Clin Transl Med, 2021 Nov. PMID 34841685, Free PMC Article
    5. Glutamine Triggers Acetylation-Dependent Degradation of Glutamine Synthetase via the Thalidomide Receptor Cereblon. Nguyen TV, et al. Mol Cell, 2016 Mar 17. PMID 26990986, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcriptional control of CBX5 by the RNA binding proteins RBMX and RBMXL1 maintains chromatin state in myeloid leukemia.
      Title: Transcriptional control of CBX5 by the RNA binding proteins RBMX and RBMXL1 maintains chromatin state in myeloid leukemia.
    Submit: New GeneRIF Correction

    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)

    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

    • FLJ32614, DKFZp547N1117, DKFZp667D0223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RNA binding motif protein, X-linked-like-1
    Names
    RNA binding motif protein, X-linked like 1
    heterogeneous nuclear ribonucleoprotein G-like 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_001162536.3 → NP_001156008.1  RNA binding motif protein, X-linked-like-1

      See identical proteins and their annotated locations for NP_001156008.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL832785, BC012942, BF901720, DA216732
      Consensus CDS
      CCDS716.1
      UniProtKB/Swiss-Prot
      Q96E39
      UniProtKB/TrEMBL
      Q2VIN3
      Related
      ENSP00000498248.1, ENST00000652648.1
      Conserved Domains (3) summary
      COG0724
      Location:9 → 85
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12382
      Location:7 → 86
      RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
      pfam08081
      Location:173 → 217
      RBM1CTR; RBM1CTR (NUC064) family

    2. NM_019610.6 → NP_062556.2  RNA binding motif protein, X-linked-like-1

      See identical proteins and their annotated locations for NP_062556.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL832785, BC012942, BF901720, DC397531
      Consensus CDS
      CCDS716.1
      UniProtKB/Swiss-Prot
      Q96E39
      UniProtKB/TrEMBL
      Q2VIN3
      Related
      ENSP00000318415.5, ENST00000321792.5
      Conserved Domains (3) summary
      COG0724
      Location:9 → 85
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12382
      Location:7 → 86
      RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
      pfam08081
      Location:173 → 217
      RBM1CTR; RBM1CTR (NUC064) family

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      88979456..88992629 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      88822848..88836026 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96E39.1 GenPept UniProtKB/Swiss-Prot:Q96E39

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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