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

    Gene ID: 123720, updated on 13-May-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
    mouse all
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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. WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration.
      Title: WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration.
    2. 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.
    3. An actin-WHAMM interaction linking SETD2 and autophagy.
      Title: An actin-WHAMM interaction linking SETD2 and autophagy.
    4. 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.
    5. 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.
    6. 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.
    7. 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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