Gene Gene information from NCBI Gene database.
Entrez ID 123720
Gene name WASP homolog associated with actin, golgi membranes and microtubules
Gene symbol WHAMM
Synonyms (NCBI Gene)
WHAMM1WHDC1
Chromosome 15
Chromosome location 15q25.2
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 initiat
miRNA miRNA information provided by mirtarbase database.
492
miRTarBase ID miRNA Experiments Reference
MIRT048656 hsa-miR-99a-5p CLASH 23622248
MIRT639649 hsa-miR-3124-3p HITS-CLIP 23824327
MIRT639648 hsa-miR-6883-3p HITS-CLIP 23824327
MIRT639647 hsa-miR-4755-5p HITS-CLIP 23824327
MIRT639646 hsa-miR-5006-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 18614018
GO:0000139 Component Golgi membrane TAS
GO:0003779 Function Actin binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612393 30493 ENSG00000156232
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TF30
Protein name WASP homolog-associated protein with actin, membranes and microtubules (WAS protein homology region 2 domain-containing protein 1) (WH2 domain-containing protein 1)
Protein 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. Pro
PDB 5X1G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15920 WHAMM-JMY_N 5 54 N-terminal of Junction-mediating and WASP homolog-associated Family
PF15871 JMY 78 442 Junction-mediating and -regulatory protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, lung, heart, colon and kidney (at protein level).
Sequence
MEDEQPDSLEGWVPVREGLFAEPERHRLRFLVAWNGAEGKFAVTCHDRTAQQRRLREGAR
LGPEPEPKPEAAVSPSSWAGLLSAAGLRGAHRQLAALWPPLERCFPRLPPELDVGGGGAW
GLGLGLWALLWPTRAGPGEAALQELCGQLERYLGAAADGCGGATVRDALFPAEGGAADCE
SPREFRERALRARWVEADARLRQVIQGHGKANTMVALMNVYQEEDEAYQELVTVATMFFQ
YLLQPFRAMREVATLCKLDILKSLDEDDLGPRRVVALEKEAEEWTRRAEEAVVSIQDITV
NYFKETVKALAGMQKEMEQDAKRFGQAAWATAIPRLEKLQLMLARETLQLMRAKELCLNH
KRAEIQGKMEDLPEQEKNTNVVDELEIQFYEIQLELYEVKFEILKNEEILLTTQLDSLKR
LIKEKQDEVVYYDPCENPEELK
VIDCVVGLQDDKNLEVKELRRQCQQLESKRGRICAKRA
SLRSRKDQCKENHRFRLQQAEESIRYSRQHHSIQMKRDKIKEEEQKKKEWINQERQKTLQ
RLRSFKDKRLAQSVRNTSGSEPVAPNLPSDLSQQMCLPASHAVSVIHPSSRKTRGVPLSE
AGNVKSPKCQNCHGNIPVQVFVPVGDQTHSKSSEELSLPPPPPPPPPPPPPPPPPPPPLR
ALSSSSQAATHQNLGFRAPVKDDQPRPLVCESPAERPRDSLESFSCPGSMDEVLASLRHG
RAPLRKVEVPAVRPPHASINEHILAAIRQGVKLKKVHPDLGPNPSSKPTSNRRTSDLERS
IKAALQRIKRVSADSEEDSDEQDPGQWDG
Sequence length 809
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Tight junction  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Premature ovarian failure Uncertain significance rs2050659596 RCV001270231
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Chronic Periodontitis Associate 25056994, 30760334, 36360171
Galloway Mowat syndrome Associate 28720660
Periodontitis Associate 25056994