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WHAMM WASP homolog associated with actin, golgi membranes and microtubules [ Homo sapiens (human) ]

Gene ID: 123720, updated on 5-Mar-2024

Summary

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Official Symbol
WHAMMprovided by HGNC
Official Full Name
WASP homolog associated with actin, golgi membranes and microtubulesprovided by HGNC
Primary source
HGNC:HGNC:30493
See related
Ensembl:ENSG00000156232 MIM:612393; AllianceGenome:HGNC:30493
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WHDC1; WHAMM1
Summary
This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in bone marrow (RPKM 8.9), spleen (RPKM 2.9) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
15q25.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (82809628..82836108)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (80673919..80700403)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (83478380..83504860)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene actin gamma 1 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9965 Neighboring gene MPRA-validated peak2404 silencer Neighboring gene small Cajal body-specific RNA 15 Neighboring gene small nucleolar RNA host gene 21 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:83450989-83451154 Neighboring gene fibronectin type III and SPRY domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6755 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:83501038-83502237 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:83518553-83519328 Neighboring gene homer scaffold protein 2 Neighboring gene uncharacterized LOC105370928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:83620722-83621222 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:83632148-83632648 Neighboring gene chromosome 15 open reading frame 40 Neighboring gene RNA guanine-7 methyltransferase activating subunit

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. WHAMM Directs the Arp2/3 Complex to the ER for Autophagosome Biogenesis through an Actin Comet Tail Mechanism. Kast DJ, et al. Curr Biol, 2015 Jun 29. PMID 26096974, Free PMC Article
  2. Structural insights into WHAMM-mediated cytoskeletal coordination during membrane remodeling. Shen QT, et al. J Cell Biol, 2012 Oct 1. PMID 23027905, Free PMC Article
  3. Cytoskeletal regulation: coordinating actin and microtubule dynamics in membrane trafficking. Disanza A, et al. Curr Biol, 2008 Sep 23. PMID 18812086
  4. An actin-WHAMM interaction linking SETD2 and autophagy. Seervai RNH, et al. Biochem Biophys Res Commun, 2021 Jun 18. PMID 33036756, Free PMC Article
  5. WHAMM initiates autolysosome tubulation by promoting actin polymerization on autolysosomes. Dai A, et al. Nat Commun, 2019 Aug 16. PMID 31420534, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis.
    Title: The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis.
  2. An actin-WHAMM interaction linking SETD2 and autophagy.
    Title: An actin-WHAMM interaction linking SETD2 and autophagy.
  3. WHAMM is required for autophagic lysosome reformation. WHAMM works as an actin nucleation promoting factor which promotes assembly of an actin scaffold on the surface of the autolysosome to promote autolysosome tabulation.
    Title: WHAMM initiates autolysosome tubulation by promoting actin polymerization on autolysosomes.
  4. WHAMM directs the Arp2/3 complex to the endoplasmic reticulum for autophagosome biogenesis through an actin comet tail mechanism.
    Title: WHAMM Directs the Arp2/3 Complex to the ER for Autophagosome Biogenesis through an Actin Comet Tail Mechanism.
  5. Data show that RhoD binds the actin nucleation-promoting factor WHAMM (WASp homologue associated with actin Golgi membranes and microtubules), as well as the related filamin A-binding protein FILIP1.
    Title: RhoD regulates cytoskeletal dynamics via the actin nucleation-promoting factor WASp homologue associated with actin Golgi membranes and microtubules.
  6. results give rise to a model whereby distinct MT-bound and actin-nucleating populations of WHAMM collaborate during membrane tubulation
    Title: Structural insights into WHAMM-mediated cytoskeletal coordination during membrane remodeling.
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

  • KIAA1971

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Arp2/3 complex binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Arp2/3 complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in Arp2/3 complex-mediated actin nucleation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actin filament organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in actin filament organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in plasma membrane tubulation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of actin nucleation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in endoplasmic reticulum-Golgi intermediate compartment membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
WASP homolog-associated protein with actin, membranes and microtubules
Names
WAS protein homolog associated with actin, golgi membranes and microtubules
WAS protein homology region 2 domain-containing protein 1
WH2 domain-containing protein 1

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_001080435.3 → NP_001073904.1  WASP homolog-associated protein with actin, membranes and microtubules

    See identical proteins and their annotated locations for NP_001073904.1

    Status: REVIEWED

    Source sequence(s)
    AB075851, AC044907, AI377476, AK126887
    Consensus CDS
    CCDS45333.1
    UniProtKB/Swiss-Prot
    Q8N1J9, Q8TF30
    Related
    ENSP00000286760.4, ENST00000286760.5
    Conserved Domains (2) summary
    pfam15871
    Location:78 → 442
    JMY; Junction-mediating and -regulatory protein
    pfam15920
    Location:5 → 53
    WHAMM-JMY_N; N-terminal of Junction-mediating and WASP homolog-associated

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    82809628..82836108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432153.1 → XP_047288109.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X4

  2. XM_047432154.1 → XP_047288110.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X5

  3. XM_005272423.5 → XP_005272480.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X2

    See identical proteins and their annotated locations for XP_005272480.1

    Conserved Domains (1) summary
    pfam15871
    Location:27 → 212
    JMY; Junction-mediating and -regulatory protein

  4. XM_005272421.5 → XP_005272478.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X1

    Conserved Domains (1) summary
    pfam15871
    Location:1 → 229
    JMY; Junction-mediating and -regulatory protein

  5. XM_011521232.4 → XP_011519534.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X3

    Conserved Domains (1) summary
    pfam15871
    Location:37 → 169
    JMY; Junction-mediating and -regulatory protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    80673919..80700403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377296.1 → XP_054233271.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X4

  2. XM_054377297.1 → XP_054233272.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X5

  3. XM_054377294.1 → XP_054233269.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X2

  4. XM_054377293.1 → XP_054233268.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X1

  5. XM_054377295.1 → XP_054233270.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TF30.2 GenPept UniProtKB/Swiss-Prot:Q8TF30

Gene LinkOut

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