RBM42 RNA binding motif protein 42 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBM42provided by HGNC
Official Full Name: RNA binding motif protein 42provided by HGNC
Primary source: HGNC:HGNC:28117
See related: Ensembl:ENSG00000126254 MIM:613232; AllianceGenome:HGNC:28117
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables RNA binding activity. Predicted to act upstream of or within negative regulation of mRNA splicing, via spliceosome. Part of U4/U6 x U5 tri-snRNP complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in fat (RPKM 19.0), spleen (RPKM 16.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35629036..35637685)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38173991..38182639)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36119938..36128587)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.
Title: Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.
hnRNP K and RBM42 have a role in the maintenance of cellular ATP level in the stress conditions possibly through protecting their target mRNAs.
Title: hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, RNA binding motif protein 42 (RBM42), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of mRNA splicing, via spliceosome	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of U4/U6 x U5 tri-snRNP complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: RNA-binding protein 42

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001319113.2 → NP_001306042.1 RNA-binding protein 42 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

BC002868, HY031737

UniProtKB/TrEMBL

K7EP90

Related

ENSP00000466044.1, ENST00000588161.5

Conserved Domains (1) summary

cd12383
Location:346 → 428

RRM_RBM42; RNA recognition motif in RNA-binding protein 42 (RBM42) and similar proteins
NM_024321.5 → NP_077297.2 RNA-binding protein 42 isoform 1

See identical proteins and their annotated locations for NP_077297.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC004204, HY031737

Consensus CDS

CCDS12468.1

UniProtKB/Swiss-Prot

O00320, Q8N5R7, Q9BTD8, Q9BU66

UniProtKB/TrEMBL

K7EP90

Related

ENSP00000262633.3, ENST00000262633.9

Conserved Domains (1) summary

cd12383
Location:375 → 457

RRM_RBM42; RNA recognition motif (RRM) found in RNA-binding protein 42 (RBM42) and similar proteins