Whamm WAS protein homolog associated with actin, golgi membranes and microtubules [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Whammprovided by MGI
Official Full Name: WAS protein homolog associated with actin, golgi membranes and microtubulesprovided by MGI
Primary source: MGI:MGI:2142282
See related: Ensembl:ENSMUSG00000045795 AllianceGenome:MGI:2142282
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Whdc1; mKIAA1971
Summary: Predicted to enable Arp2/3 complex binding activity; microtubule binding activity; and small GTPase binding activity. Involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Predicted to be located in Golgi membrane and cytosol. Predicted to be active in endoplasmic reticulum-Golgi intermediate compartment membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and integumental system. Used to study Fanconi syndrome. Orthologous to human WHAMM (WASP homolog associated with actin, golgi membranes and microtubules). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 16.4), liver adult (RPKM 13.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 D3; 7 45.71 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (81220403..81246585)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (81570655..81596837)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration.
Title: WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration.
data suggest that WHAMM is required for peripheral spindle migration and asymmetric cytokinesis during mouse oocyte maturation
Title: WHAMM is required for meiotic spindle migration and asymmetric cytokinesis in mouse oocytes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235702

D1Rat146 (e-PCR), detects polymorphism
- UniSTS:227043

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables Arp2/3 complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables Arp2/3 complex binding	ISO Inferred from Sequence Orthology more info
enables Arp2/3 complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Arp2/3 complex-mediated actin nucleation	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	ISO Inferred from Sequence Orthology more info
involved_in actin filament organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in focal adhesion assembly	IEA Inferred from Electronic Annotation more info
involved_in focal adhesion assembly	ISO Inferred from Sequence Orthology more info
involved_in lamellipodium assembly	IEA Inferred from Electronic Annotation more info
involved_in lamellipodium assembly	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane tubulation	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane tubulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of actin nucleation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of actin nucleation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: WASP homolog-associated protein with actin, membranes and microtubules

Names: WAS protein homology region 2 domain containing 1; WAS protein homology region 2 domain-containing protein 1; WH2 domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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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)

NM_001004185.4 → NP_001004185.3 WASP homolog-associated protein with actin, membranes and microtubules

See identical proteins and their annotated locations for NP_001004185.3

Status: VALIDATED

Source sequence(s)

AC140366

Consensus CDS

CCDS52283.1

UniProtKB/Swiss-Prot

Q571B6, Q80VK9, Q80YT0, Q8BJP8

Related

ENSMUSP00000128881.2, ENSMUST00000165460.2

Conserved Domains (2) summary

pfam15871
Location:67 → 435

JMY; Junction-mediating and -regulatory protein

pfam15920
Location:5 → 51

WHAMM-JMY_N; N-terminal of Junction-mediating and WASP homolog-associated