RBM46 RNA binding motif protein 46 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBM46provided by HGNC
Official Full Name: RNA binding motif protein 46provided by HGNC
Primary source: HGNC:HGNC:28401
See related: Ensembl:ENSG00000151962 MIM:620147; AllianceGenome:HGNC:28401
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
Also known as: CT68
Summary: Predicted to enable mRNA binding activity. Predicted to act upstream of or within mRNA stabilization and trophectodermal cell differentiation. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 13.4) See more
Orthologs: mouse all
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Genomic context

Location:: 4q32.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (154781272..154828813)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (158113066..158160632)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (155702424..155749965)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

RNA binding protein RBM46 regulates mitotic-to-meiotic transition in spermatogenesis.
Title: RNA binding protein RBM46 regulates mitotic-to-meiotic transition in spermatogenesis.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

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 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 cell cycle switching, mitotic to meiotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in female meiotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA stabilization	IEA Inferred from Electronic Annotation more info
involved_in male meiotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in oogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatid differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in trophectodermal cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: probable RNA-binding protein 46

Names: cancer/testis antigen 68

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_001277171.2 → NP_001264100.1 probable RNA-binding protein 46 isoform 2

See identical proteins and their annotated locations for NP_001264100.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an additional exon that results in an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.

Source sequence(s)

AK125877, AK302720, BC028588, DB449155

Consensus CDS

CCDS64085.1

UniProtKB/Swiss-Prot

Q8TBY0

Related

ENSP00000424500.1, ENST00000514866.5

Conserved Domains (4) summary

cd12484
Location:60 → 137

RRM1_RBM46; RNA recognition motif 1 found in vertebrate RNA-binding protein 46 (RBM46)

cd12492
Location:139 → 223

RRM2_RBM46; RNA recognition motif 2 found in vertebrate RNA-binding protein 46 (RBM46)

cd12496
Location:235 → 308

RRM3_RBM46; RNA recognition motif 3 in vertebrate RNA-binding protein 46 (RBM46)

pfam14709
Location:392 → 468

DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
NM_001277173.2 → NP_001264102.1 probable RNA-binding protein 46 isoform 3

See identical proteins and their annotated locations for NP_001264102.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, and uses an alternate 3' terminal exon that results in an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.

Source sequence(s)

AK125877, BC028588

Consensus CDS

CCDS64086.1

UniProtKB/Swiss-Prot

Q8TBY0

Related

ENSP00000422813.1, ENST00000510397.5

Conserved Domains (4) summary

cd12484
Location:60 → 137

RRM1_RBM46; RNA recognition motif 1 found in vertebrate RNA-binding protein 46 (RBM46)

cd12492
Location:139 → 223

RRM2_RBM46; RNA recognition motif 2 found in vertebrate RNA-binding protein 46 (RBM46)

cd12496
Location:235 → 308

RRM3_RBM46; RNA recognition motif 3 in vertebrate RNA-binding protein 46 (RBM46)

pfam14709
Location:392 → 468

DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
NM_144979.5 → NP_659416.1 probable RNA-binding protein 46 isoform 1

See identical proteins and their annotated locations for NP_659416.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC028588, DB449155, DB527978

Consensus CDS

CCDS3790.1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0

Related

ENSP00000281722.3, ENST00000281722.8

Conserved Domains (1) summary

cl25617
Location:18 → 464

LSM_int_assoc; LSM-interacting associated unstructured

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

154781272..154828813

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006714120.2 → XP_006714183.1 probable RNA-binding protein 46 isoform X3

See identical proteins and their annotated locations for XP_006714183.1

UniProtKB/Swiss-Prot

Q8TBY0

Conserved Domains (4) summary

cd12484
Location:60 → 137

RRM1_RBM46; RNA recognition motif 1 found in vertebrate RNA-binding protein 46 (RBM46)

cd12492
Location:139 → 223

RRM2_RBM46; RNA recognition motif 2 found in vertebrate RNA-binding protein 46 (RBM46)

cd12496
Location:235 → 308

RRM3_RBM46; RNA recognition motif 3 in vertebrate RNA-binding protein 46 (RBM46)

pfam14709
Location:392 → 468

DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
XM_011531695.4 → XP_011529997.1 probable RNA-binding protein 46 isoform X1

See identical proteins and their annotated locations for XP_011529997.1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0

Conserved Domains (1) summary

cl25617
Location:18 → 464

LSM_int_assoc; LSM-interacting associated unstructured
XM_011531697.3 → XP_011529999.1 probable RNA-binding protein 46 isoform X2

Conserved Domains (4) summary

cd12484
Location:60 → 137

RRM1_RBM46; RNA recognition motif 1 found in vertebrate RNA-binding protein 46 (RBM46)

cd12492
Location:139 → 223

RRM2_RBM46; RNA recognition motif 2 found in vertebrate RNA-binding protein 46 (RBM46)

cd12496
Location:235 → 308

RRM3_RBM46; RNA recognition motif 3 in vertebrate RNA-binding protein 46 (RBM46)

pfam14709
Location:392 → 463

DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
XM_011531693.3 → XP_011529995.1 probable RNA-binding protein 46 isoform X1

See identical proteins and their annotated locations for XP_011529995.1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0

Conserved Domains (1) summary

cl25617
Location:18 → 464

LSM_int_assoc; LSM-interacting associated unstructured
XM_011531692.3 → XP_011529994.1 probable RNA-binding protein 46 isoform X1

See identical proteins and their annotated locations for XP_011529994.1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0

Conserved Domains (1) summary

cl25617
Location:18 → 464

LSM_int_assoc; LSM-interacting associated unstructured
XM_011531694.3 → XP_011529996.1 probable RNA-binding protein 46 isoform X1

See identical proteins and their annotated locations for XP_011529996.1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0

Conserved Domains (1) summary

cl25617
Location:18 → 464

LSM_int_assoc; LSM-interacting associated unstructured
XM_011531696.3 → XP_011529998.1 probable RNA-binding protein 46 isoform X1

See identical proteins and their annotated locations for XP_011529998.1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0

Conserved Domains (1) summary

cl25617
Location:18 → 464

LSM_int_assoc; LSM-interacting associated unstructured

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

158113066..158160632

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054349120.1 → XP_054205095.1 probable RNA-binding protein 46 isoform X1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0
XM_054349123.1 → XP_054205098.1 probable RNA-binding protein 46 isoform X3
XM_054349122.1 → XP_054205097.1 probable RNA-binding protein 46 isoform X2
XM_054349118.1 → XP_054205093.1 probable RNA-binding protein 46 isoform X1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0
XM_054349117.1 → XP_054205092.1 probable RNA-binding protein 46 isoform X1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0
XM_054349119.1 → XP_054205094.1 probable RNA-binding protein 46 isoform X1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0
XM_054349121.1 → XP_054205096.1 probable RNA-binding protein 46 isoform X1

UniProtKB/Swiss-Prot

B3KWU8, B4DZ27, Q8TBY0