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

Also Known as WHDC1; WHAMM1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 123720

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	Verweise	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	Verweise	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	Verweise	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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS15814	WHAMM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	WHAMM	NCBI