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RBMXL1 RBMX like 1 [ Homo sapiens (human) ]

Gene ID: 494115, updated on 5-Mar-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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Location:
1p22.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (88979456..88992629, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (88822848..88836026, complement)
105.20220307 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
  • 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 (44) 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_2023_10

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

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