• Gene id: 64327

Gene Summary

• Gene Symbol: LMBR1   Gene   UCSC   Ensembl
• Aliases: ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, ZRS
• Gene name: limb development membrane protein 1
• Alternate names: limb region 1 protein homolog, differentiation-related gene 14 protein, limb region 1 homolog,
• Gene location: 7q36.3 (156893207: 156669011)     Exons: 25     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located wi
• OMIM: 605522

Protein Summary

• Protein general information: Q8WVP7  
  • Name: Limb region 1 protein homolog (Differentiation related gene 14 protein)
  • Length: 490  
  • Mass: 55098
  • Tissue specificity: Widely expressed with strongest expression in heart and pancreas. {ECO
• Sequence:

  MEGQDEVSAREQHFHSQVRESTICFLLFAILYVVSYFIITRYKRKSDEQEDEDAIVNRISLFLSTFTLAVSAGAV
  LLLPFSIISNEILLSFPQNYYIQWLNGSLIHGLWNLASLFSNLCLFVLMPFAFFFLESEGFAGLKKGIRARILET
  LVMLLLLALLILGIVWVASALIDNDAASMESLYDLWEFYLPYLYSCISLMGCLLLLLCTPVGLSRMFTVMGQLLV
  KPTILEDLDEQIYIITLEEEALQRRLNGLSSSVEYNIMELEQELENVKTLKTKLERRKKASAWERNLVYPAVMVL
  LLIETSISVLLVACNILCLLVDETAMPKGTRGPGIGNASLSTFGFVGAALEIILIFYLMVSSVVGFYSLRFFGNF
  TPKKDDTTMTKIIGNCVSILVLSSALPVMSRTLGITRFDLLGDFGRFNWLGNFYIVLSYNLLFAIVTTLCLVRKF
  TSAVREELFKALGLHKLHLPNTSRDSETAKPSVNGHQKAL

• Structural information:
  • Interpro: IPR008075  IPR006876  
  • STRING: ENSP00000326604
• Other Databases: GeneCards:  LMBR1  Malacards:  LMBR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004888	transmembrane signaling receptor activity	IBA	molecular function
GO:0007165	signal transduction	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Preaxial polydactyly	KEGG:H02332
Syndactyly	KEGG:H01095
Acheiropodia	KEGG:H00629
Triphalangeal thumb-polysyndactyly syndrome	KEGG:H00855
Laurin-Sandrow syndrome	KEGG:H02333
Preaxial polydactyly	KEGG:H02332
Syndactyly	KEGG:H01095
Acheiropodia	KEGG:H00629
Triphalangeal thumb-polysyndactyly syndrome	KEGG:H00855
Laurin-Sandrow syndrome	KEGG:H02333
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