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Aliases for WHAMM Gene

Aliases for WHAMM Gene

  • WAS Protein Homolog Associated With Actin, Golgi Membranes And Microtubules 2 3 5
  • WAS Protein Homology Region 2 Domain-Containing Protein 1 3 4
  • WH2 Domain-Containing Protein 1 3 4
  • WHDC1 3 4
  • WAS Protein Homology Region 2 Domain Containing 1 2
  • KIAA1971 4
  • WHAMM1 3

External Ids for WHAMM Gene

Previous HGNC Symbols for WHAMM Gene

  • WHDC1

Previous GeneCards Identifiers for WHAMM Gene

  • GC15P081277
  • GC15P083477
  • GC15P059747

Summaries for WHAMM Gene

Entrez Gene Summary for WHAMM Gene

  • 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]

GeneCards Summary for WHAMM Gene

WHAMM (WAS Protein Homolog Associated With Actin, Golgi Membranes And Microtubules) is a Protein Coding gene. GO annotations related to this gene include nucleotide binding and microtubule binding. An important paralog of this gene is JMY.

UniProtKB/Swiss-Prot for WHAMM Gene

  • Acts as a nucleation-promoting factor (NPF) that stimulates Arp2/3-mediated actin polymerization both at the Golgi apparatus and along tubular membranes. Its activity in membrane tubulation requires F-actin and interaction with microtubules. Proposed to use coordinated actin-nucleating and microtubule-binding activities of distinct WHAMM molecules to drive membrane tubule elongation; when MT-bound can recruit and remodel membrane vesicles but is prevented to activate the Arp2/3 complex. Involved as a regulator of Golgi positioning and morphology. Participates in vesicle transport between the reticulum endoplasmic and the Golgi complex. Required for RhoD-dependent actin reorganization such as in cell adhesion and cell migration.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WHAMM Gene

Genomics for WHAMM Gene

Regulatory Elements for WHAMM Gene

Enhancers for WHAMM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around WHAMM on UCSC Golden Path with GeneCards custom track

Genomic Location for WHAMM Gene

Chromosome:
15
Start:
82,808,169 bp from pter
End:
82,836,108 bp from pter
Size:
27,940 bases
Orientation:
Plus strand

Genomic View for WHAMM Gene

Genes around WHAMM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WHAMM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WHAMM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WHAMM Gene

Proteins for WHAMM Gene

  • Protein details for WHAMM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TF30-WHAMM_HUMAN
    Recommended name:
    WASP homolog-associated protein with actin, membranes and microtubules
    Protein Accession:
    Q8TF30
    Secondary Accessions:
    • Q8N1J9

    Protein attributes for WHAMM Gene

    Size:
    809 amino acids
    Molecular mass:
    90924 Da
    Quaternary structure:
    • Interacts with ACTR3; indicative for an association with the ARP2/3 complex. Associates with microtubules; in vitro binds to tubulin heterodimer in a 1:1 stoichiometry; decorates microtubules with a repeat of 80 A along protofilaments. Interacts with RHOD (in GTP-bound form).
    SequenceCaution:
    • Sequence=BAB85557.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB85557.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC05201.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

neXtProt entry for WHAMM Gene

Proteomics data for WHAMM Gene at MOPED

Post-translational modifications for WHAMM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WHAMM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WHAMM Gene

Domains & Families for WHAMM Gene

Gene Families for WHAMM Gene

Protein Domains for WHAMM Gene

Suggested Antigen Peptide Sequences for WHAMM Gene

Graphical View of Domain Structure for InterPro Entry

Q8TF30

UniProtKB/Swiss-Prot:

WHAMM_HUMAN :
  • The N-terminal region associates with membranes, the coiled-coil region binds to microtubules and the WH2 domains promotes actin nucleation.
Domain:
  • The N-terminal region associates with membranes, the coiled-coil region binds to microtubules and the WH2 domains promotes actin nucleation.
  • Contains 2 WH2 domains.
genes like me logo Genes that share domains with WHAMM: view

Function for WHAMM Gene

Molecular function for WHAMM Gene

UniProtKB/Swiss-Prot Function:
Acts as a nucleation-promoting factor (NPF) that stimulates Arp2/3-mediated actin polymerization both at the Golgi apparatus and along tubular membranes. Its activity in membrane tubulation requires F-actin and interaction with microtubules. Proposed to use coordinated actin-nucleating and microtubule-binding activities of distinct WHAMM molecules to drive membrane tubule elongation; when MT-bound can recruit and remodel membrane vesicles but is prevented to activate the Arp2/3 complex. Involved as a regulator of Golgi positioning and morphology. Participates in vesicle transport between the reticulum endoplasmic and the Golgi complex. Required for RhoD-dependent actin reorganization such as in cell adhesion and cell migration.

Gene Ontology (GO) - Molecular Function for WHAMM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IDA 18614018
genes like me logo Genes that share ontologies with WHAMM: view
genes like me logo Genes that share phenotypes with WHAMM: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WHAMM Gene

Localization for WHAMM Gene

Subcellular locations from UniProtKB/Swiss-Prot for WHAMM Gene

Cytoplasm. Endoplasmic reticulum-Golgi intermediate compartment. Cytoplasmic vesicle membrane. Golgi apparatus, cis-Golgi network. Note=Localized to a perinuclear compartment near the microtubule-organizing center (MTOC). Also detected on tubulo-vesicular structures in the cell periphery that frequently localized along microtubules. {ECO:0000269 PubMed:18614018}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WHAMM Gene COMPARTMENTS Subcellular localization image for WHAMM gene
Compartment Confidence
golgi apparatus 5
cytoskeleton 4
cytosol 3
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for WHAMM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IDA 18614018
genes like me logo Genes that share ontologies with WHAMM: view

Pathways & Interactions for WHAMM Gene

SuperPathways for WHAMM Gene

No Data Available

Interacting Proteins for WHAMM Gene

Gene Ontology (GO) - Biological Process for WHAMM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030032 lamellipodium assembly IMP 23087206
GO:0048041 focal adhesion assembly IMP 23087206
GO:0051127 positive regulation of actin nucleation IDA 18614018
genes like me logo Genes that share ontologies with WHAMM: view

No data available for Pathways by source and SIGNOR curated interactions for WHAMM Gene

Drugs & Compounds for WHAMM Gene

No Compound Related Data Available

Transcripts for WHAMM Gene

Unigene Clusters for WHAMM Gene

WAS protein homolog associated with actin, golgi membranes and microtubules:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WHAMM Gene

No ASD Table

Relevant External Links for WHAMM Gene

GeneLoc Exon Structure for
WHAMM
ECgene alternative splicing isoforms for
WHAMM

Expression for WHAMM Gene

mRNA expression in normal human tissues for WHAMM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WHAMM Gene

This gene is overexpressed in Urine (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for WHAMM Gene



SOURCE GeneReport for Unigene cluster for WHAMM Gene Hs.377360

mRNA Expression by UniProt/SwissProt for WHAMM Gene

Q8TF30-WHAMM_HUMAN
Tissue specificity: Expressed in brain, lung, heart, colon and kidney (at protein level).
genes like me logo Genes that share expression patterns with WHAMM: view

Protein tissue co-expression partners for WHAMM Gene

Primer Products

No data available for mRNA differential expression in normal tissues for WHAMM Gene

Orthologs for WHAMM Gene

This gene was present in the common ancestor of chordates.

Orthologs for WHAMM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WHAMM 35
  • 81.85 (n)
  • 75.22 (a)
WHAMM 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WHAMM 35
  • 78.66 (n)
  • 71.97 (a)
WHAMM 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Whamm 35
  • 75.66 (n)
  • 68.83 (a)
Whamm 16
Whamm 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WHAMM 35
  • 99.38 (n)
  • 99.63 (a)
WHAMM 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Whamm 35
  • 75.68 (n)
  • 68.4 (a)
oppossum
(Monodelphis domestica)
Mammalia WHAMM 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WHAMM 36
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves WHDC1 35
  • 65.52 (n)
  • 58.07 (a)
WHAMM 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WHAMM 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia whamm 35
  • 61.57 (n)
  • 53.91 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC794202 35
  • 54.27 (n)
  • 46.73 (a)
Species with no ortholog for WHAMM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WHAMM Gene

ENSEMBL:
Gene Tree for WHAMM (if available)
TreeFam:
Gene Tree for WHAMM (if available)

Paralogs for WHAMM Gene

Paralogs for WHAMM Gene

(2) SIMAP similar genes for WHAMM Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for WHAMM Gene

genes like me logo Genes that share paralogs with WHAMM: view

Variants for WHAMM Gene

Sequence variations from dbSNP and Humsavar for WHAMM Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1055666 - 82,818,003(+) AACTT(A/C/G)AGCTA reference, missense
rs1055667 - 82,818,019(+) AGCTC(A/G)AGAGA reference, missense
rs3814281 - 82,831,014(-) GAGGA(C/T)GTGGC reference, missense
rs11259953 - 82,833,313(+) TCCCC(A/C)CGCCT reference, missense
rs11259954 - 82,833,314(+) CCCCA(C/G/T)GCCTC reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for WHAMM Gene

Variant ID Type Subtype PubMed ID
nsv469557 CNV Complex 16826518
nsv471687 CNV Gain 15918152
nsv9288 CNV Loss 18304495

Variation tolerance for WHAMM Gene

Residual Variation Intolerance Score: 97.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.30; 88.24% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for WHAMM Gene

Disorders for WHAMM Gene

Relevant External Links for WHAMM

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WHAMM

No disorders were found for WHAMM Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for WHAMM Gene

Publications for WHAMM Gene

  1. WHAMM is an Arp2/3 complex activator that binds microtubules and functions in ER to Golgi transport. (PMID: 18614018) Campellone K.G. … Welch M.D. (Cell 2008) 2 3 4 67
  2. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. (PMID: 18226259) Jiang Y.-H. … Beaudet A.L. (BMC Genomics 2008) 2 3
  3. Cytoskeletal regulation: coordinating actin and microtubule dynamics in membrane trafficking. (PMID: 18812086) Disanza A. … Scita G. (Curr. Biol. 2008) 2 3
  4. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T. … Ohara O. (DNA Res. 2001) 2 3
  5. WHAMM Directs the Arp2/3 Complex to the ER for Autophagosome Biogenesis through an Actin Comet Tail Mechanism. (PMID: 26096974) Kast D.J. … Dominguez R. (Curr. Biol. 2015) 3

Products for WHAMM Gene

Sources for WHAMM Gene

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