RBMXL1 - RBMX like 1 Gene

Homo sapiens

Also known as RBM1

Gene ID: 494115 | Gene type: protein coding

About RBMXL1

This gene has 4 transcripts (splice variants), 112 orthologues and 36 paralogues. Ubiquitous expression in ovary (RPKM 8.0), endometrium (RPKM 6.4) and 25 other tissues.

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]

RBMXL1 Products(2)

mRNA	Protein	Name
NM_001162536.3	NP_001156008.1	RNA binding motif protein, X-linked-like-1
NM_019610.6	NP_062556.2	RNA binding motif protein, X-linked-like-1

RBMXL1 Protein Structure

RRM_1

RBM1CTR

0
100
200
300
390 a.a.

Protein Preferred Names

Protein Names

RNA binding motif protein, X-linked-like-1

RNA binding motif protein, X-linked like 1

Related Diseases

Diseases

Alias

Microphthalmia, Isolated 4

Isolated Microphthalmia 4	MCOP4
Microphthalmia, Isolated, 4	Isolated Clinical Anophthalmia
Microphthalmia, Isolated, Type 4

Leber Congenital Amaurosis 17

LCA17

Leber Congenital Amaurosis, Type 17

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome	Deafness-Hermann Type Symphalangism Syndrome
Facio-Audio-Symphalangism	Hearing Loss-Hermann Type Symphalangism Syndrome
Wl Syndrome	Multiple Synostosis Syndrome

Otosclerosis

Otospongiosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11764	RBMXL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RBMXL1	VGNC	VGNC:100053
Rattus norvegicus	RBMXL1	RGD	RGD:1306751
Mus musculus	RBMXL1	MGD	MGI:1343045

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