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

Gene ID: 84058, updated on 8-Feb-2025

Summary

Official Symbol
WDR54provided by HGNC
Official Full Name
WD repeat domain 54provided by HGNC
Primary source
HGNC:HGNC:25770
See related
Ensembl:ENSG00000005448 MIM:620826; AllianceGenome:HGNC:25770
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 protein homodimerization activity. Involved in negative regulation of receptor internalization; regulation of MAPK cascade; and regulation of epidermal growth factor receptor signaling pathway. Located in intracellular membrane-bounded organelle and vesicle. [provided by Alliance of Genome Resources, Feb 2025]
Expression
Broad expression in testis (RPKM 18.8), lung (RPKM 6.6) and 23 other tissues See more
Orthologs
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Genomic context

See WDR54 in Genome Data Viewer
Location:
2p13.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74421730..74425755)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74430287..74434312)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74648857..74652882)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene dynactin subunit 1 Neighboring gene DCTN1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74619101-74619643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74619644-74620185 Neighboring gene chromosome 2 open reading frame 81 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16055 Neighboring gene high mobility group AT-hook 1 pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74653567-74654066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74663701-74664380 Neighboring gene rhotekin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74666515-74667252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16056 Neighboring gene INO80B-WBP1 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11663 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74684936-74685442 Neighboring gene INO80 complex subunit B

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ12953

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
is_active_in motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
WD repeat-containing protein 54

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_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
    B9A049, D6W5I3, Q53H85, Q86V45, Q9H977
    Related
    ENST00000480089.5
    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
    B9A049, D6W5I3, Q53H85, Q86V45, 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    74421730..74425755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005064.2XP_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 ...
  2. XM_047445958.1XP_047301914.1  WD repeat-containing protein 54 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    74430287..74434312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344113.1XP_054200088.1  WD repeat-containing protein 54 isoform X1

  2. XM_054344114.1XP_054200089.1  WD repeat-containing protein 54 isoform X2