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WDR46 WD repeat domain 46 [ Homo sapiens (human) ]

Gene ID: 9277, updated on 9-Oct-2022

Summary

Official Symbol
WDR46provided by HGNC
Official Full Name
WD repeat domain 46provided by HGNC
Primary source
HGNC:HGNC:13923
See related
Ensembl:ENSG00000227057 MIM:611440; AllianceGenome:HGNC:13923
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
UTP7; BING4; FP221; C6orf11
Summary
Enables RNA binding activity. Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleoplasm. Predicted to be part of small-subunit processome. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in appendix (RPKM 10.6), testis (RPKM 10.3) and 25 other tissues See more
Orthologs
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Genomic context

See WDR46 in Genome Data Viewer
Location:
6p21.32
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33279108..33289239, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (33100470..33110601, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33246885..33257016, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S18 Neighboring gene beta-1,3-galactosyltransferase 4 Neighboring gene microRNA 6873 Neighboring gene microRNA 6834 Neighboring gene prefoldin subunit 6 Neighboring gene ral guanine nucleotide dissociation stimulator like 2 Neighboring gene TAP binding protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
Component Evidence Code Pubs
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
part_of small-subunit processome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
WD repeat-containing protein 46
Names
WD repeat-containing protein BING4

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_001164267.2NP_001157739.1  WD repeat-containing protein 46 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK292171, AK298151, BC000388, BX439421
    UniProtKB/Swiss-Prot
    O15213
    UniProtKB/TrEMBL
    A0A1U9X8W1, A8K806, B4DP15
    Conserved Domains (3) summary
    smart01033
    Location:386464
    BING4CT; BING4CT (NUC141) domain
    sd00039
    Location:145181
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:154333
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_005452.6NP_005443.3  WD repeat-containing protein 46 isoform 1

    See identical proteins and their annotated locations for NP_005443.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK292171, BC000388, DB272479
    Consensus CDS
    CCDS4772.1
    UniProtKB/Swiss-Prot
    O15213, Q5STR3
    UniProtKB/TrEMBL
    A8K806
    Related
    ENSP00000363746.4, ENST00000374617.9
    Conserved Domains (4) summary
    smart01033
    Location:440518
    BING4CT; BING4CT (NUC141) domain
    COG2319
    Location:203396
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:199235
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:208387
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    33279108..33289239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419523.1XP_047275479.1  WD repeat-containing protein 46 isoform X1

  2. XM_047419524.1XP_047275480.1  WD repeat-containing protein 46 isoform X2

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    4690589..4700724 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    4522622..4532757 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    4715074..4725175 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    4473528..4483663 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    33100470..33110601 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)