1. Gene
  2. WHAMM - WASP homolog associated with actin, golgi membranes and microtubules Gene

WHAMM - WASP homolog associated with actin, golgi membranes and microtubules Gene

Homo sapiens

Also known as WHDC1; WHAMM1

Gene ID: 123720 | Gene type: protein coding

About WHAMM

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:82,809,628-82,836,108 (from NCBI)

This gene has 2 transcripts (splice variants), 192 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 8.9), spleen (RPKM 2.9) and 24 other tissues.

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]

WHAMM Products(1)

mRNA Protein Name
NM_001080435.3 NP_001073904.1 WASP homolog-associated protein with actin, membranes and microtubules
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables Arp2/3 complex binding IDA
IDA: Inferred from direct assay
23087206 GOA
enables microtubule binding IDA
IDA: Inferred from direct assay
18614018 GOA
enables small GTPase binding IDA
IDA: Inferred from direct assay
23087206 GOA
Biological Process GO Annotation Evidence Reference Source
involved in actin filament organization IDA
IDA: Inferred from direct assay
18614018 GOA
involved in actin filament organization IMP
IMP: Inferred from mutant phenotype
23087206 GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
IDA: Inferred from direct assay
18614018 GOA
involved in focal adhesion assembly IMP
IMP: Inferred from mutant phenotype
23087206 GOA
involved in lamellipodium assembly IMP
IMP: Inferred from mutant phenotype
23087206 GOA
involved in plasma membrane tubulation IDA
IDA: Inferred from direct assay
18614018 GOA
involved in positive regulation of actin nucleation IDA
IDA: Inferred from direct assay
18614018 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi membrane IDA
IDA: Inferred from direct assay
18614018 GOA
located in endoplasmic reticulum-Golgi intermediate compartment membrane IDA
IDA: Inferred from direct assay
18614018 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

WASP homolog-associated protein with actin, membranes and microtubules

WAS protein homolog associated with actin, golgi membranes and microtubules

Related Diseases

Diseases Alias
Wiskott-Aldrich Syndrome

WAS

Eczema-Thrombocytopenia-Immunodeficiency Syndrome

Immunodeficiency 2

Aldrich Syndrome

Imd2

Wiskott-Aldrich Syndrome 1

Was1

Wiskott Syndrome

Wiskott Aldrich Syndrome

Eczema Thrombocytopenia Immunodeficiency Syndrome

Imd 2

Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Malignant Otitis Externa

Necrotising Otitis Externa

Pseudomonas Aeruginosa Osteomyelitis Of The Temporal Bone

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta WHAMM VGNC VGNC:97843
Bos taurus WHAMM VGNC VGNC:53957
Canis familiaris WHAMM VGNC VGNC:53253
Rattus norvegicus WHAMM RGD RGD:1563506
Felis catus WHAMM VGNC VGNC:80783
Mus musculus WHAMM MGD MGI:2142282