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WDR54 WD repeat domain 54 [ Homo sapiens (human) ]

Gene ID: 84058, updated on 21-Dec-2019

Summary

Official Symbol
WDR54provided by HGNC
Official Full Name
WD repeat domain 54provided by HGNC
Primary source
HGNC:HGNC:25770
See related
Ensembl:ENSG00000005448
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
Expression
Broad expression in testis (RPKM 18.8), lung (RPKM 6.6) and 23 other tissues See more
Orthologs

Genomic context

See WDR54 in Genome Data Viewer
Location:
2p13.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (74421721..74426259)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74648863..74652882)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene dynactin subunit 1 Neighboring gene DCTN1 antisense RNA 1 Neighboring gene chromosome 2 open reading frame 81 Neighboring gene high mobility group AT-hook 1 pseudogene 8 Neighboring gene rhotekin Neighboring gene INO80B-WBP1 readthrough (NMD candidate) Neighboring gene INO80 complex subunit B Neighboring gene WW domain binding protein 1

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12953

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
WD repeat-containing protein 54

NCBI Reference Sequences (RefSeq)

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_001320823.2NP_001307752.1  WD repeat-containing protein 54 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AI203710, AK023015, BG024606, BI855898
    UniProtKB/Swiss-Prot
    Q9H977
    Conserved Domains (3) summary
    COG2319
    Location:146347
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:87128
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:144295
    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_001320824.2NP_001307753.1  WD repeat-containing protein 54 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses two alternate splice junctions compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AI203710, AK023015, BG024606, HY088750
    Consensus CDS
    CCDS1940.1
    UniProtKB/Swiss-Prot
    Q9H977
    Conserved Domains (2) summary
    COG2319
    Location:131332
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:72113
    7WD40; WD40 repeat [structural motif]
  3. NM_001320825.2NP_001307754.1  WD repeat-containing protein 54 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) lacks an alternate N-terminal segment and has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC005041, AI203710, AK023015, CD249537
    Consensus CDS
    CCDS82473.1
    UniProtKB/Swiss-Prot
    Q9H977
    UniProtKB/TrEMBL
    B9A049
    Related
    ENSP00000387236.1, ENST00000409791.5
    Conserved Domains (2) summary
    sd00039
    Location:2361
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:77228
    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 ...
  4. NM_032118.4NP_115494.1  WD repeat-containing protein 54 isoform b

    See identical proteins and their annotated locations for NP_115494.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AI203710, AK023015
    Consensus CDS
    CCDS1940.1
    UniProtKB/Swiss-Prot
    Q9H977
    Related
    ENSP00000006526.6, ENST00000348227.4
    Conserved Domains (2) summary
    COG2319
    Location:131332
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:72113
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    74421721..74426259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005064.1XP_016860553.1  WD repeat-containing protein 54 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:79280
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2361
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:77228
    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 ...

RNA

  1. XR_002959350.1 RNA Sequence

  2. XR_001738970.1 RNA Sequence

    Related
    ENST00000469321.5
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