• Gene id: 26092

Gene Summary

• Gene Symbol: TOR1AIP1   Gene   UCSC   Ensembl
• Aliases: LAP1, LAP1B, LAP1C, LGMD2Y
• Gene name: torsin 1A interacting protein 1
• Alternate names: torsin-1A-interacting protein 1, lamin-associated protein 1B, lamina-associated polypeptide 1B, torsin A interacting protein 1,
• Gene location: 1q25.2 (179882041: 179920076)     Exons: 10     NC_000001.11
• Gene summary(Entrez): This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell d
• OMIM: 614512

Protein Summary

• Protein general information: Q5JTV8  
  • Name: Torsin 1A interacting protein 1 (Lamin associated protein 1B) (LAP1B)
  • Length: 583  
  • Mass: 66248
  • Tissue specificity: Expressed in muscle, liver and kidney. {ECO
• Sequence:

  MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFSDEPPEVYGDFEPLVA
  KERSPVGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETEEMKTRRTTRLQQQHSEQPPLQPSPVMTRRG
  LRDSHSSEEDEASSQTDLSQTISKKTVRSIQEAPVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQ
  DSSHSSVTTVKARSRDSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTR
  MQNDSILKSELGNQSPSTSSRQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEVETTAVQEFQNQMNQL
  KNKYQGQDEKLWKRSQTFLEKHLNSSHPRSQPAILLLTAARDAEEALRCLSEQIADAYSSFRSVRAIRIDGTDKA
  TQDSDTVKLEVDQELSNGFKNGQNAAVVHRFESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGL
  KEVEEKVRDFLKVKFTNSNTPNSYNHMDPDKLNGLWSRISHLVLPVQPENALKRGICL

• Structural information:
  • Interpro: IPR008662  IPR038599  
  • PDB: 4TVS
  • PDBsum: 4TVS
  • DIP: 56692
  • STRING: ENSP00000435365
• Other Databases: GeneCards:  TOR1AIP1  Malacards:  TOR1AIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032781	positive regulation of ATPase activity	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0001671	ATPase activator activity	IDA	molecular function
GO:0034504	protein localization to nucleus	ISS	biological process
GO:0008092	cytoskeletal protein binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071763	nuclear membrane organization	IEA	biological process
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0090435	protein localization to nuclear envelope	IEA	biological process
GO:0005521	lamin binding	IEA	molecular function
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Limb-girdle muscular dystrophy	KEGG:H00593
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R