• Gene id: 4010

Gene Summary

• Gene Symbol: LMX1B   Gene   UCSC   Ensembl
• Aliases: LMX1.2, NPS1
• Gene name: LIM homeobox transcription factor 1 beta
• Alternate names: LIM homeobox transcription factor 1-beta, LIM/homeobox protein 1.2, LMX-1.2,
• Gene location: 9q33.3 (126613927: 126701031)     Exons: 8     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development
• OMIM: 602575

Protein Summary

• Protein general information: O60663  
  • Name: LIM homeobox transcription factor 1 beta (LIM/homeobox protein 1.2) (LMX 1.2) (LIM/homeobox protein LMX1B)
  • Length: 402  
  • Mass: 44917
  • Tissue specificity: Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.
• Sequence:

  MDIATGPESLERCFPRGQTDCAKMLDGIKMEEHALRPGPATLGVLLGSDCPHPAVCEGCQRPISDRFLMRVNESS
  WHEECLQCAACQQALTTSCYFRDRKLYCKQDYQQLFAAKCSGCMEKIAPTEFVMRALECVYHLGCFCCCVCERQL
  RKGDEFVLKEGQLLCKGDYEKEKDLLSSVSPDESDSVKSEDEDGDMKPAKGQGSQSKGSGDDGKDPRRPKRPRTI
  LTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKKLARRHQQQQEQQNSQRLGQEVLSS
  RMEGMMASYTPLAPPQQQIVAMEQSPYGSSDPFQQGLTPPQMPGDHMNPYGNDSIFHDIDSDTSLTSLSDCFLGS
  SDVGSLQARVGNPIDRLYSMQSSYFAS

• Structural information:
  • Protein Domains: (56..10-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (115..16-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR009057  IPR017970  IPR001356  IPR001781  
  • Prosite: PS00027 PS50071 PS00478 PS50023
  • CDD: cd00086
  • STRING: ENSP00000347684
• Other Databases: GeneCards:  LMX1B  Malacards:  LMX1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0071542	dopaminergic neuron differentiation	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0030182	neuron differentiation	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0009953	dorsal/ventral pattern formation	ISS	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0007275	multicellular organism development	NAS	biological process
GO:0007275	multicellular organism development	NAS	biological process
GO:0007275	multicellular organism development	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001701	in utero embryonic development	NAS	biological process

Diseases

Associated diseases	References
Nail-patella syndrome	KEGG:H00464
Nail-patella syndrome	KEGG:H00464
Nail-patella syndrome	PMID:15498463
Nail-patella syndrome	PMID:9590287
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
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