1. Gene
  2. RBMS1 - RNA binding motif single stranded interacting protein 1 Gene

RBMS1 - RNA binding motif single stranded interacting protein 1 Gene

Homo sapiens

Also known as YC1; MSSP; SCR2; HCC-4; MSSP-1; MSSP-2; MSSP-3; C2orf12

Gene ID: 5937 | Gene type: protein coding

About RBMS1

Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38): 2:160,272,151-160,493,807 (from NCBI)

This gene has 14 transcripts (splice variants), 270 orthologues and 24 paralogues. Ubiquitous expression in placenta (RPKM 34.9), endometrium (RPKM 27.3) and 24 other tissues.

Summary

This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and Apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]

RBMS1 Products(2)

mRNA Protein Name
NM_002897.5 NP_002888.1 RNA-binding motif, single-stranded-interacting protein 1 isoform c
NM_016836.4 NP_058520.1 RNA-binding motif, single-stranded-interacting protein 1 isoform a

RBMS1 Protein Structure

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (64 - 124)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (143 - 207)

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  • 406 a.a.
Protein Preferred Names Protein Names

RNA-binding motif, single-stranded-interacting protein 1

c-myc gene single strand binding protein 2

Related Diseases

Diseases Alias
Diffuse Glomerulonephritis

Glomerulonephritis Diffuse

Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations

MCPH2

Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations

Microcephaly, Primary Autosomal Recessive, 2

Epidermolysis Bullosa, Junctional 1b, Severe

Epidermolysis Bullosa, Junctional, Herlitz Type

Epidermolysis Bullosa Letalis

JEB1B

Epidermolysis Bullosa Junctionalis, Herlitz Type

Jeb-Herlitz Type

Herlitz-Pearson-Type Epidermolysis Bullosa

Junctional Epidermolysis Bullosa Herlitz Type

Jeb-H

Junctional Epidermolysis Bullosa Generalisata Gravis

Junctional Epidermolysis Bullosa, Herlitz-Pearson Type

Epidermolysis Bullosa, Junctional, Generalized Severe

Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type

Herlitz Type Epidermolysis Bullosa Junctionalis

Severe Generalized Junctional Epidermolysis Bullosa

Junctional Epidermolysis Bullosa, Herlitz Type

Severe Generalized Jeb

Epidermolysis Letalis

Junctional Epidermolysis Bullosa Gravis

Junctional Epidermolysis Bullosa Herlitz-Pearson Type

Herlitz Disease

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus RBMS1 RGD RGD:1307777
Mus musculus RBMS1 MGD MGI:1861774
Bos taurus RBMS1 VGNC VGNC:33809
Felis catus RBMS1 VGNC VGNC:69268
Macaca mulatta RBMS1 VGNC VGNC:76686
Canis familiaris RBMS1 VGNC VGNC:45427