Basic Information

Symbol
RRBP1
RNA class
mRNA
Alias
Ribosome Binding Protein 1 ES/130 P180 HES Endoplasmic Reticulum Ribosome-Binding Protein 1 Ribosome Binding Protein 1 Homolog 180kDa (Dog) Ribosomal Receptor-Binding Protein 1 180 KDa Ribosome Receptor Homolog Ribosome-Binding Protein 1 Ribosome Receptor Protein ES/130-Related Protein RRp Ribosome Binding Protein 1 (Dog 180kD Homolog) KIAA1398 ES130
Location (GRCh38)
20:17613678-17682295
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001365613.2
Sequence length
5049.0 nt
GC content
0.5942

Transcripts

ID Sequence Length GC content
NM_001042576.2 NCBI
AGAAAGUGCCACGACUCCACACGCGCGCACGCAGCCAGCGAGCGGCCGG… 3750 nt 0.5936
NM_001365613.2 NCBI
AGAAAGUGCCACGACUCCACACGCGCGCACGCAGCCAGCGAGCGGCCGG… 5049 nt 0.5942
NM_004587.3 NCBI
AGAAAGUGCCACGACUCCACACGCGCGCACGCAGCCAGCGAGCGGCCGG… 3673 nt 0.5943
Summary

This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012]

Forensic Context

No relevant information is available at the moment.