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  2. RBMXL1 - RBMX like 1 Gene

RBMXL1 - RBMX like 1 Gene

中文名称:RBMX 样 1

种属: Homo sapiens

同用名: RBM1

基因 ID: 494115 | 基因类型: protein coding

关于 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.

功能概要

该基因代表了一个位于 X 染色体上的 RNA 结合基序蛋白 X-linked (RBMX) 的逆转录基因。虽然与 RBMX 基因座相比,编码序列中的所有内含子都被加工掉了,但 ORF 是完整的,并且具有特异性在此位置转录的证据。通过在所有携带它的旧世界猴子中纯化选择来保存 ORF,表明该基因座可能具有功能,可能在 X 染色体基因沉默的雄性减数分裂期间或在精子发生的单倍体阶段。该基因与 1 号染色体上的半胱氨酸结合-β 裂解酶 2 基因座共享 5' 外显子结构,但编码序列不重叠。可变剪接导致两种转录本变体。[RefSeq 提供,2009 年 6 月]

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 基因产物(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 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (10 - 80)

RBM1CTR

RBM1CTR: RBM1CTR (NUC064) family (173 - 217)

  • 0
  • 100
  • 200
  • 300
  • 390 a.a.
蛋白主名 其他名称

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

RNA binding motif protein, X-linked like 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RBMXL1 VGNC VGNC:100053
Rattus norvegicus RBMXL1 RGD RGD:1306751
Mus musculus RBMXL1 MGD MGI:1343045