LMBR1: Difference between revisions

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{{Infobox_gene}}
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'''Limb region 1 protein homolog''' is a [[protein]] that in humans is encoded by the ''LMBR1'' [[gene]].<ref name="pmid10329000">{{cite journal |vauthors=Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P | title = A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36 | journal = Genomics | volume = 57 | issue = 3 | pages = 342–51 |date=Aug 1999 | pmid = 10329000 | pmc =  | doi = 10.1006/geno.1999.5796 }}</ref><ref name="pmid11090342">{{cite journal |vauthors=Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P | title = Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene | journal = Am J Hum Genet | volume = 68 | issue = 1 | pages = 38–45 |date=Jan 2001 | pmid = 11090342 | pmc = 1234933 | doi =10.1086/316955 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: LMBR1 limb region 1 homolog (mouse)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64327| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Limb region 1 homolog (mouse)
| HGNCid = 13243
| Symbol = LMBR1
| AltSymbols =; TPT; ACHP; C7orf2; DIF14; FLJ11665; PPD2
| OMIM = 605522
| ECnumber =
  | Homologene = 49706
| MGIid = 1861746
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}}  
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process =  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 64327
    | Hs_Ensembl = ENSG00000105983
    | Hs_RefseqProtein = NP_071903
    | Hs_RefseqmRNA = NM_022458
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 156166332
    | Hs_GenLoc_end = 156378622
    | Hs_Uniprot = Q8WVP7
    | Mm_EntrezGene = 56873
    | Mm_Ensembl = ENSMUSG00000010721
    | Mm_RefseqmRNA = NM_183120
    | Mm_RefseqProtein = NP_898943
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 29562906
    | Mm_GenLoc_end = 29709089
    | Mm_Uniprot = Q9JIT0
  }}
}}
'''Limb region 1 homolog (mouse)''', also known as '''LMBR1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: LMBR1 limb region 1 homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64327| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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 within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression.<ref name="entrez">{{cite web | title = Entrez Gene: LMBR1 limb region 1 homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64327| accessdate = }}</ref>
| summary_text = 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 within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with [[acheiropody]] and preaxial [[polydactyly]], which likely result from altered sonic hedgehog expression.<ref name="entrez"/>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =  
*{{cite journal | author=Hing AV, Helms C, Slaugh R, ''et al.'' |title=Linkage of preaxial polydactyly type 2 to 7q36. |journal=Am. J. Med. Genet. |volume=58 |issue= 2 |pages= 128-35 |year= 1996 |pmid= 8533803 |doi= 10.1002/ajmg.1320580208 }}
*{{cite journal   |vauthors=Hing AV, Helms C, Slaugh R, etal |title=Linkage of preaxial polydactyly type 2 to 7q36. |journal=Am. J. Med. Genet. |volume=58 |issue= 2 |pages= 128–35 |year= 1996 |pmid= 8533803 |doi= 10.1002/ajmg.1320580208 }}
*{{cite journal  | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097-108 |year= 1999 |pmid= 9847074 |doi=  }}
*{{cite journal  |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi=  10.1101/gr.8.11.1097}}
*{{cite journal  | author=Heus HC, Hing A, van Baren MJ, ''et al.'' |title=A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. |journal=Genomics |volume=57 |issue= 3 |pages= 342-51 |year= 1999 |pmid= 10329000 |doi= 10.1006/geno.1999.5796 }}
*{{cite journal  |vauthors=Clark RM, Marker PC, Kingsley DM |title=A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. |journal=Genomics |volume=67 |issue= 1 |pages= 19–27 |year= 2001 |pmid= 10945466 |doi= 10.1006/geno.2000.6225 }}
*{{cite journal  | author=Clark RM, Marker PC, Kingsley DM |title=A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. |journal=Genomics |volume=67 |issue= 1 |pages= 19-27 |year= 2001 |pmid= 10945466 |doi= 10.1006/geno.2000.6225 }}
*{{cite journal  |vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000  | pmc=310948 }}
*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi= }}
*{{cite journal   |vauthors=Dundar M, Gordon TM, Ozyazgan I, etal |title=A novel acropectoral syndrome maps to chromosome 7q36. |journal=J. Med. Genet. |volume=38 |issue= 5 |pages= 304–9 |year= 2001 |pmid= 11333865 |doi=10.1136/jmg.38.5.304  | pmc=1734869 }}
*{{cite journal  | author=Ianakiev P, van Baren MJ , Daly MJ, ''et al.'' |title=Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. |journal=Am. J. Hum. Genet. |volume=68 |issue= 1 |pages= 38-45 |year= 2001 |pmid= 11090342 |doi=  }}
*{{cite journal   |vauthors=Clark RM, Marker PC, Roessler E, etal |title=Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. |journal=Genetics |volume=159 |issue= 2 |pages= 715–26 |year= 2002 |pmid= 11606546 |doi= | pmc=1461845 }}
*{{cite journal | author=Dundar M, Gordon TM, Ozyazgan I, ''et al.'' |title=A novel acropectoral syndrome maps to chromosome 7q36. |journal=J. Med. Genet. |volume=38 |issue= 5 |pages= 304-9 |year= 2001 |pmid= 11333865 |doi=  }}
*{{cite journal   |vauthors=Lettice LA, Horikoshi T, Heaney SJ, etal |title=Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 11 |pages= 7548–53 |year= 2002 |pmid= 12032320 |doi= 10.1073/pnas.112212199 | pmc=124279 }}
*{{cite journal | author=Clark RM, Marker PC, Roessler E, ''et al.'' |title=Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. |journal=Genetics |volume=159 |issue= 2 |pages= 715-26 |year= 2002 |pmid= 11606546 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Lettice LA, Horikoshi T, Heaney SJ, ''et al.'' |title=Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 11 |pages= 7548-53 |year= 2002 |pmid= 12032320 |doi= 10.1073/pnas.112212199 }}
*{{cite journal   |vauthors=Horikoshi T, Endo N, Shibata M, etal |title=Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice. |journal=J. Bone Miner. Metab. |volume=21 |issue= 1 |pages= 1–4 |year= 2003 |pmid= 12491086 |doi= 10.1007/s007740300000 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Scherer SW, Cheung J, MacDonald JR, etal |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 | pmc=2882961 |doi= 10.1126/science.1083423 }}
*{{cite journal | author=Horikoshi T, Endo N, Shibata M, ''et al.'' |title=Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice. |journal=J. Bone Miner. Metab. |volume=21 |issue= 1 |pages= 1-4 |year= 2003 |pmid= 12491086 |doi= 10.1007/s007740300000 }}
*{{cite journal   |vauthors=Lettice LA, Heaney SJ, Purdie LA, etal |title=A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1725–35 |year= 2003 |pmid= 12837695 |doi=10.1093/hmg/ddg180 }}
*{{cite journal | author=Scherer SW, Cheung J, MacDonald JR, ''et al.'' |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767-72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423 }}
*{{cite journal   |vauthors=Hillier LW, Fulton RS, Fulton LA, etal |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }}
*{{cite journal | author=Lettice LA, Heaney SJ, Purdie LA, ''et al.'' |title=A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1725-35 |year= 2003 |pmid= 12837695 |doi=  }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Hillier LW, Fulton RS, Fulton LA, ''et al.'' |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157-64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }}
*{{cite journal   |vauthors=Sagai T, Masuya H, Tamura M, etal |title=Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh). |journal=Mamm. Genome |volume=15 |issue= 1 |pages= 23–34 |year= 2004 |pmid= 14727139 |doi= 10.1007/s00335-033-2317-5 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Sagai T, Masuya H, Tamura M, ''et al.'' |title=Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh). |journal=Mamm. Genome |volume=15 |issue= 1 |pages= 23-34 |year= 2004 |pmid= 14727139 |doi= 10.1007/s00335-033-2317-5 }}
*{{cite journal   |vauthors=Wiemann S, Arlt D, Huber W, etal |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}
*{{cite journal | author=Wiemann S, Arlt D, Huber W, ''et al.'' |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136-44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 }}
*{{cite journal   |vauthors=Mehrle A, Rosenfelder H, Schupp I, etal |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 }}
*{{cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal | author=Mehrle A, Rosenfelder H, Schupp I, ''et al.'' |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415-8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 }}
}}
}}
{{refend}}
{{refend}}


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{{gene-7-stub}}

Revision as of 18:01, 2 September 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.[1][2][3]

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 within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression.[3]

References

  1. ↑ Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P (Aug 1999). "A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36". Genomics. 57 (3): 342–51. doi:10.1006/geno.1999.5796. PMID 10329000.
  2. ↑ Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P (Jan 2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". Am J Hum Genet. 68 (1): 38–45. doi:10.1086/316955. PMC 1234933. PMID 11090342.
  3. ↑ 3.0 3.1 "Entrez Gene: LMBR1 limb region 1 homolog (mouse)".

Further reading



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