RBM7 - RNA binding motif protein 7 Gene

Homo sapiens

Gene ID: 10179 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 14-3-3 protein binding	IDA IDA: Inferred from direct assay	25189701	GOA
enables 14-3-3 protein binding	IPI IPI: Inferred from physical interaction	25189701	GOA
enables RNA binding	IDA IDA: Inferred from direct assay	25578728	GOA
enables RNA binding	IMP IMP: Inferred from mutant phenotype	25189701	GOA
enables pre-mRNA intronic binding	IDA IDA: Inferred from direct assay	25578728	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16263084	GOA
enables snRNA binding	IDA IDA: Inferred from direct assay	25852104	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in snRNA catabolic process	IMP IMP: Inferred from mutant phenotype	25852104	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
NOT located in nucleolus	IDA IDA: Inferred from direct assay	21855801	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	16263084	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21855801	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RBM7 Protein Structure

RRM_1

0
100
200
266 a.a.

Protein Preferred Names

Protein Names

RNA-binding protein 7

Related Diseases

Diseases

Alias

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

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-RS11758	RBM7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RBM7	MGD	MGI:1914260
Macaca mulatta	RBM7	VGNC	VGNC:101388
Rattus norvegicus	RBM7	RGD	RGD:1308017

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