1. Gene
  2. RBM7 - RNA binding motif protein 7 Gene

RBM7 - RNA binding motif protein 7 Gene

中文名称:RNA 结合基序蛋白 7

种属: Homo sapiens

基因 ID: 10179 | 基因类型: protein coding

关于 RBM7

Cytogenetic location: 11q23.2 Genomic coordinates (GRCh38): 11:114,400,666-114,410,607 (from NCBI)

This gene has 8 transcripts (splice variants), 212 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 12.9), urinary bladder (RPKM 8.3) and 25 other tissues.

功能概要

启用 14-3-3 蛋白结合活性; pre-mRNA 内含子结合活性;和 snRNA 结合活性。参与 snRNA 分解代谢过程。位于核质中。 [由基因组资源联盟提供,2022 年 4 月]

Enables 14-3-3 protein binding activity; pre-mRNA intronic binding activity; and snRNA binding activity. Involved in snRNA catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

RBM7 基因产物(5)

mRNA Protein Name
NM_001286045.2 NP_001272974.1 RNA-binding protein 7 isoform a
NM_001286046.2 NP_001272975.1 RNA-binding protein 7 isoform c
NM_001286047.2 NP_001272976.1 RNA-binding protein 7 isoform c
NM_001286048.2 NP_001272977.1 RNA-binding protein 7 isoform c
NM_016090.4 NP_057174.1 RNA-binding protein 7 isoform b

RBM7 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (12 - 81)

  • 0
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  • 200
  • 266 a.a.
蛋白主名 其他名称

RNA-binding protein 7

关联疾病

疾病名称 别名
Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome

Sd/The

Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

THES1

Phenotypic Diarrhea

Thes

Phenotypic Diarrhea Of Infancy

Diarrhea, Syndromic

Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

Intractable Diarrhea With Phenotypic Anomalies

Syndromatic Diarrhea

Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Trichohepatoenteric Syndrome 2

THES2

Pontocerebellar Hypoplasia, Type 1d

PCH1D

Pontocerebellar Hypoplasia Type 1d

Pontocerebellar Hypoplasia 1d

Doid:0112323

Hypoplasia, Pontocerebellar, Type 1d

Pontocerebellar Hypoplasia, Type 1c

PCH1C

Hypomyelination With Spinal Muscular Atrophy And Cerebellar Hypoplasia

Pontocerebellar Hypoplasia Type 1c

Pontocerebellar Hypoplasia 1c

Doid:0112334

Hypoplasia, Pontocerebellar, Type 1c

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1

PCH1E

Norman Disease

Pch1

Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

Pontocerebellar Hypoplasia Type 1e

Pontocerebellar Hypoplasia 1e

Doid:0112322

Doid:0112330

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Mus musculus RBM7 MGD MGI:1914260
Macaca mulatta RBM7 VGNC VGNC:101388
Rattus norvegicus RBM7 RGD RGD:1308017