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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]
RBMXL1 (RBMX Like 1) is a Protein Coding gene. Diseases associated with RBMXL1 include Autosomal Recessive Nonsyndromic Deafness 32 and Deafness, Autosomal Recessive 1A. Among its related pathways are mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBMX.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J088990 | Promoter/Enhancer | 2.4 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 250.7 | +0.4 | 403 | 4 | TBP SP1 MNT IKZF1 SMAD5 MBD2 ZNF217 POLR2A BHLHE40 ZEB1 | KYAT3 HSALNG0005043 RBMXL1 GBP3 PKN2 ELOCP19 GTF2B GBP5 GBP6 ENSG00000235308 | |
GH01J088984 | Promoter/Enhancer | 1.1 | EPDnew ENCODE | 260.6 | +8.0 | 7985 | 3 | IRF2 CTCF CEBPB MAX RAD21 RFX5 ZNF843 YY1 SMC3 RBM22 | RBMXL1 GBP6 GBP5 ENSG00000237568 KYAT3 lnc-PKN2-4 GTF2B | |
GH01J088981 | Promoter/Enhancer | 0.7 | EPDnew Ensembl | 257.9 | +11.4 | 11359 | 2 | HLF MTA2 HMBOX1 | RBMXL1 KYAT3 GBP6 GBP5 GBP2 lnc-PKN2-4 GTF2B | |
GH01J088991 | Promoter | 0.6 | EPDnew | 250.7 | +2.6 | 2614 | 0.1 | BCL6 ZNF644 YY1 | RBMXL1 GBP5 GBP6 KYAT3 lnc-PKN2-4 GTF2B | |
GH01J088983 | Promoter | 0.3 | EPDnew | 250.4 | +9.9 | 9896 | 0.1 | RBMXL1 GBP6 GBP5 KYAT3 lnc-PKN2-4 GTF2B |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005681 | spliceosomal complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.47
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006397 | mRNA processing | IEA | -- |
GO:0008380 | RNA splicing | IEA | -- |
GO:0048026 | positive regulation of mRNA splicing, via spliceosome | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RBMX 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rbmx 31 |
|
ManyToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Rbmxl1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | RBMX 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | rbmx 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | tra2 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | rsp-8 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv207n100 | CNV | loss | 25217958 |
esv2758948 | CNV | gain | 17122850 |
esv7403 | CNV | gain | 19470904 |
nsv1002798 | CNV | gain | 25217958 |
nsv946054 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autosomal recessive nonsyndromic deafness 32 |
|
|
deafness, autosomal recessive 1a |
|
|