• Gene id: 5357

Gene Summary

• Gene Symbol: PLS1   Gene   UCSC   Ensembl
• Aliases: DFNA76
• Gene name: plastin 1
• Alternate names: plastin-1, I plastin, fimbrin, intestine specific plastin,
• Gene location: 3q23 (133026620: 132996984)     Exons: 6     NC_000005.10
• Gene summary(Entrez): Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this ge
• OMIM: 602734

Protein Summary

• Protein general information: Q14651  
  • Name: Plastin 1 (Intestine specific plastin) (I plastin)
  • Length: 629  
  • Mass: 70253
  • Tissue specificity: In small intestine, colon, and kidney; relatively lower levels of expression are detected in the lung and stomach. {ECO
• Sequence:

  MENSTTTISREELEELQEAFNKIDIDNSGYVSDYELQDLFKEASLPLPGYKVREIVEKILSVADSNKDGKISFEE
  FVSLMQELKSKDISKTFRKIINKREGITAIGGTSTISSEGTQHSYSEEEKVAFVNWINKALENDPDCKHLIPMNP
  NDDSLFKSLADGILLCKMINLSEPDTIDERAINKKKLTPFTISENLNLALNSASAIGCTVVNIGASDLKEGKPHL
  VLGLLWQIIKVGLFADIEISRNEALIALLNEGEELEELMKLSPEELLLRWVNYHLTNAGWHTISNFSQDIKDSRA
  YFHLLNQIAPKGGEDGPAIAIDLSGINETNDLKRAGLMLQEADKLGCKQFVTPADVVSGNPKLNLAFVANLFNTY
  PCLHKPNNNDIDMNLLEGESKEERTFRNWMNSLGVNPYINHLYSDLADALVIFQLYEMIRVPVNWSHVNKPPYPA
  LGGNMKKIENCNYAVELGKNKAKFSLVGIAGQDLNEGNSTLTLALVWQLMRRYTLNVLSDLGEGEKVNDEIIIKW
  VNQTLKSANKKTSISSFKDKSISTSLPVLDLIDAIAPNAVRQEMIRRENLSDEDKLNNAKYAISVARKIGARIYA
  LPDDLVEVKPKMVMTVFACLMGKGLNRIK

• Structural information:
  • Protein Domains: (11..4-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (51..8-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (122..23-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-)
  • Interpro: IPR001589  IPR001715  IPR036872  IPR011992  IPR018247   IPR002048  IPR039959  IPR030235  
  • Prosite: PS00019 PS00020 PS50021 PS00018 PS50222
  • CDD: cd00014 cd00051
  • STRING: ENSP00000336831
• Other Databases: GeneCards:  PLS1  Malacards:  PLS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005884	actin filament	IBA	cellular component
GO:0032432	actin filament bundle	IBA	cellular component
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0051639	actin filament network formation	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0051015	actin filament binding	TAS	molecular function
GO:1990357	terminal web	IEA	cellular component
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0032532	regulation of microvillus length	IEA	biological process
GO:0001951	intestinal D-glucose absorption	IEA	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	IEA	biological process
GO:1902896	terminal web assembly	IEA	biological process
GO:0005903	brush border	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903078	positive regulation of protein localization to plasma membrane	ISS	biological process
GO:0005903	brush border	ISS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq