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

    Gene ID: 123720, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WHAMM in Genome Data Viewer
    Location:
    15q25.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (82809628..82836108)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (80673919..80700403)
    RS_2024_09 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

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

      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:78442
      JMY; Junction-mediating and -regulatory protein
      pfam15920
      Location:553
      WHAMM-JMY_N; N-terminal of Junction-mediating and WASP homolog-associated

    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_000015.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

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

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

      Conserved Domains (1) summary
      pfam15871
      Location:27212
      JMY; Junction-mediating and -regulatory protein
    4. XM_005272421.5XP_005272478.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X1

      Conserved Domains (1) summary
      pfam15871
      Location:1229
      JMY; Junction-mediating and -regulatory protein
    5. XM_011521232.4XP_011519534.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X3

      Conserved Domains (1) summary
      pfam15871
      Location:37169
      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_054377296.1XP_054233271.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X4

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

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

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

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