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

Gene ID: 123720, updated on 1-Aug-2020

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
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

Genomic context

See WHAMM in Genome Data Viewer
Location:
15q25.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (82809628..82836108)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (83476959..83503613)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene actin gamma 1 pseudogene 17 Neighboring gene small Cajal body-specific RNA 15 Neighboring gene small nucleolar RNA host gene 21 Neighboring gene fibronectin type III and SPRY domain containing 2 Neighboring gene homer scaffold protein 2 Neighboring gene uncharacterized LOC105370928 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1971

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Arp2/3 complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Arp2/3 complex binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP-Rho binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP-Rho binding IDA
Inferred from Direct Assay
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Arp2/3 complex-mediated actin nucleation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ER to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ER to Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
actin filament organization IDA
Inferred from Direct Assay
more info
PubMed 
actin filament reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell cycle arrest IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane tubulation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of actin nucleation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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

    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
    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: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017021923.2XP_016877412.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X4

    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
  2. XM_005272422.3XP_005272479.1  WASP homolog-associated protein with actin, membranes and microtubules isoform X2

    See identical proteins and their annotated locations for XP_005272479.1

    Conserved Domains (1) summary
    pfam15871
    Location:27212
    JMY; Junction-mediating and -regulatory protein
  3. XM_005272423.4XP_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:27212
    JMY; Junction-mediating and -regulatory protein
  4. XM_005272421.4XP_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_011521232.3XP_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

RNA

  1. XR_001751090.2 RNA Sequence

  2. XR_001751089.2 RNA Sequence

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