• Gene id: 55740

Gene Summary

• Gene Symbol: ENAH   Gene   UCSC   Ensembl
• Aliases: ENA, MENA, NDPP1
• Gene name: ENAH actin regulator
• Alternate names: protein enabled homolog, enabled homolog, mammalian enabled variant 11a, mammalian enabled variant pan,
• Gene location: 1q42.12 (225660045: 225486828)     Exons: 20     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and moti
• OMIM: 609061

Protein Summary

• Protein general information: Q8N8S7  
  • Name: Protein enabled homolog
  • Length: 591  
  • Mass: 66510
  • Tissue specificity: Expressed in myoepithelia of parotid, breast, bronchial glands and sweat glands. Expressed in colon-rectum muscolaris mucosae epithelium, pancreas acinar ductal epithelium, endometrium epithelium, prostate fibromuscolar stroma and plac
• Sequence:

  MSEQSICQARAAVMVYDDANKKWVPAGGSTGFSRVHIYHHTGNNTFRVVGRKIQDHQVVINCAIPKGLKYNQATQ
  TFHQWRDARQVYGLNFGSKEDANVFASAMMHALEVLNSQETGPTLPRQNSQLPAQVQNGPSQEELEIQRRQLQEQ
  QRQKELERERLERERMERERLERERLERERLERERLEQEQLERERQERERQERLERQERLERQERLERQERLDRE
  RQERQERERLERLERERQERERQEQLEREQLEWERERRISSAAAPASVETPLNSVLGDSSASEPGLQAASQPAET
  PSQQGIVLGPLAPPPPPPLPPGPAQASVALPPPPGPPPPPPLPSTGPPPPPPPPPLPNQVPPPPPPPPAPPLPAS
  GFFLASMSEDNRPLTGLAAAIAGAKLRKVSRMEDTSFPSGGNAIGVNSASSKTDTGRGNGPLPLGGSGLMEEMSA
  LLARRRRIAEKGSTIETEQKEDKGEDSEPVTSKASSTSTPEPTRKPWERTNTMNGSKSPVISRRDSPRKNQIVFD
  NRSYDSLHRPKSTPLSQPSANGVQTEGLDYDRLKQDILDEMRKELTKLKEELIDAIRQELSKSNTA

• Structural information:
  • Protein Domains: (1..11-)
    (/note="WH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00410"-)
  • Interpro: IPR042180  IPR011993  IPR038023  IPR014885  IPR000697  
  • Prosite: PS50229
  • PDB: 2HO2 2IYB 2XQN 4MY6 5N91 5N9C 5N9P 5NAJ 5NBF 5NBX 5NC2 5NC7 5NCF 5NCG 5NCP 5ND0 5NDU 5NEG
  • PDBsum: 2HO2 2IYB 2XQN 4MY6 5N91 5N9C 5N9P 5NAJ 5NBF 5NBX 5NC2 5NC7 5NCF 5NCG 5NCP 5ND0 5NDU 5NEG
  • STRING: ENSP00000355809
• Other Databases: GeneCards:  ENAH  Malacards:  ENAH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0008154	actin polymerization or depolymerization	IBA	biological process
GO:0070358	actin polymerization-dependent cell motility	IBA	biological process
GO:0007411	axon guidance	IBA	biological process
GO:0005522	profilin binding	IBA	molecular function
GO:0050699	WW domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007411	axon guidance	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030175	filopodium	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04015	Rap1 signaling pathway
hsa04360	Axon guidance

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq