• Gene id: 8216

Gene Summary

• Gene Symbol: LZTR1   Gene   UCSC   Ensembl
• Aliases: BTBD29, LZTR-1, NS10, NS2, SWNTS2
• Gene name: leucine zipper like transcription regulator 1
• Alternate names: leucine-zipper-like transcriptional regulator 1, epididymis secretory sperm binding protein,
• Gene location: 22q11.1-q11.2 (20982296: 20999031)     Exons: 21     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exc
• OMIM: 600574

Protein Summary

• Protein general information: Q8N653  
  • Name: Leucine zipper like transcriptional regulator 1 (LZTR 1)
  • Length: 840  
  • Mass: 94719
• Sequence:

  MAGPGSTGGQIGAAALAGGARSKVAPSVDFDHSCSDSVEYLTLNFGPFETVHRWRRLPPCDEFVGARRSKHTVVA
  YKDAIYVFGGDNGKTMLNDLLRFDVKDCSWCRAFTTGTPPAPRYHHSAVVYGSSMFVFGGYTGDIYSNSNLKNKN
  DLFEYKFATGQWTEWKIEGRLPVARSAHGATVYSDKLWIFAGYDGNARLNDMWTIGLQDRELTCWEEVAQSGEIP
  PSCCNFPVAVCRDKMFVFSGQSGAKITNNLFQFEFKDKTWTRIPTEHLLRGSPPPPQRRYGHTMVAFDRHLYVFG
  GAADNTLPNELHCYDVDFQTWEVVQPSSDSEVGGAEVPERACASEEVPTLTYEERVGFKKSRDVFGLDFGTTSAK
  QPTQPASELPSGRLFHAAAVISDAMYIFGGTVDNNIRSGEMYRFQFSCYPKCTLHEDYGRLWESRQFCDVEFVLG
  EKEECVQGHVAIVTARSRWLRRKITQARERLAQKLEQEAAPVPREAPGVAAGGARPPLLHVAIREAEARPFEVLM
  QFLYTDKIKYPRKGHVEDVLLIMDVYKLALSFQLCRLEQLCRQYIEASVDLQNVLVVCESAARLQLSQLKEHCLN
  FVVKESHFNQVIMMKEFERLSSPLIVEIVRRKQQPPPRTPLDQPVDIGTSLIQDMKAYLEGAGAEFCDITLLLDG
  HPRPAHKAILAARSSYFEAMFRSFMPEDGQVNISIGEMVPSRQAFESMLRYIYYGEVNMPPEDSLYLFAAPYYYG
  FYNNRLQAYCKQNLEMNVTVQNVLQILEAADKTQALDMKRHCLHIIVHQFTKVSKLPTLRSLSQQLLLDIIDSLA
  SHISDKQCAELGADI

• Structural information:
  • Protein Domains: (443..53-)
    (/note="BTB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (667..73-)
    (/note="BTB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR015915  IPR006652  IPR011498  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000215739
• Other Databases: GeneCards:  LZTR1  Malacards:  LZTR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0017016	Ras GTPase binding	IDA	molecular function
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0055038	recycling endosome membrane	IDA	cellular component
GO:0012505	endomembrane system	IDA	cellular component
GO:0017016	Ras GTPase binding	IDA	molecular function
GO:0012505	endomembrane system	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0046580	negative regulation of Ras protein signal transduction	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0046580	negative regulation of Ras protein signal transduction	IDA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	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:0046580	negative regulation of Ras protein signal transduction	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Noonan syndrome and related disorders	KEGG:H00523
Noonan syndrome	KEGG:H01738
Noonan syndrome and related disorders	KEGG:H00523
Noonan syndrome	KEGG:H01738
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq