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

Gene ID: 166863, updated on 7-Apr-2024

Summary

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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
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Genomic context

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See RBM46 in Genome Data Viewer
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_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900169 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:155662965-155663478 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:155663479-155663990 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:155663991-155664503 Neighboring gene uncharacterized LOC105377500 Neighboring gene NADH:ubiquinone oxidoreductase subunit B2 pseudogene 2 Neighboring gene lecithin retinol acyltransferase Neighboring gene RNA, U2 small nuclear 66, pseudogene Neighboring gene RNA, U2 small nuclear 44, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:155837105-155837739 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:155875070-155875570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:155875571-155876071 Neighboring gene uncharacterized LOC105377501 Neighboring gene NANOG hESC enhancer GRCh37_chr4:156034857-156035436 Neighboring gene NPY2R antisense RNA 1 Neighboring gene neuropeptide Y receptor Y2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. RNA binding protein RBM46 regulates mitotic-to-meiotic transition in spermatogenesis. Qian B, et al. Sci Adv, 2022 Aug 26. PMID 36001654, Free PMC Article
  2. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. Tiemann K, et al. Oncogene, 2019 Apr. PMID 30575818, Free PMC Article
  3. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
  4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
  5. Panorama of ancient metazoan macromolecular complexes. Wan C, et al. Nature, 2015 Sep 17. PMID 26344197, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC27016

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)

  1. 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

  2. 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

  3. 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

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    154781272..154828813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    158113066..158160632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    B3KWU8, B4DZ27, Q8TBY0

  2. XM_054349123.1 → XP_054205098.1  probable RNA-binding protein 46 isoform X3

  3. XM_054349122.1 → XP_054205097.1  probable RNA-binding protein 46 isoform X2

  4. XM_054349118.1 → XP_054205093.1  probable RNA-binding protein 46 isoform X1

    UniProtKB/Swiss-Prot
    B3KWU8, B4DZ27, Q8TBY0

  5. XM_054349117.1 → XP_054205092.1  probable RNA-binding protein 46 isoform X1

    UniProtKB/Swiss-Prot
    B3KWU8, B4DZ27, Q8TBY0

  6. XM_054349119.1 → XP_054205094.1  probable RNA-binding protein 46 isoform X1

    UniProtKB/Swiss-Prot
    B3KWU8, B4DZ27, Q8TBY0

  7. XM_054349121.1 → XP_054205096.1  probable RNA-binding protein 46 isoform X1

    UniProtKB/Swiss-Prot
    B3KWU8, B4DZ27, Q8TBY0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TBY0.1 GenPept UniProtKB/Swiss-Prot:Q8TBY0

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