LMBR1
entrez
64327
canonical
uniprot
Q8WVP7
canonical
ensembl
ENSG00000105983
resolver
ensp
ENSP00000326604
resolver
ensp
ENSP00000408256
resolver
ensp
ENSP00000545455
resolver
ensp
ENSP00000545459
resolver
ensp
ENSP00000601625
resolver
ensp
ENSP00000626635
resolver
ensp
ENSP00000674699
resolver
ensp
ENSP00000674700
resolver
genesymbol
LMBR1
resolver
genesymbol_syn
C7orf2
resolver
genesymbol_syn
DIF14
resolver
hgnc
HGNC:13243
resolver
uniprot
A4D242
resolver
uniprot
B7Z633
resolver
uniprot
Q8N3E3
resolver
uniprot
Q96QZ5
resolver
uniprot
Q9H5N0
resolver
uniprot
Q9HAG9
resolver
uniprot
Q9UDN5
resolver
uniprot
Q9Y6U2
resolver
uniprot_entry
B7Z633_HUMAN
resolver
uniprot_entry
LMBR1_HUMAN
resolver
uniprot_sec
A4D242
resolver
uniprot_sec
Q8N3E3
resolver
uniprot_sec
Q96QZ5
resolver
uniprot_sec
Q9H5N0
resolver
uniprot_sec
Q9HAG9
resolver
uniprot_sec
Q9UDN5
resolver
uniprot_sec
Q9Y6U2
resolver
amino_acid_sequence
MEGQDEVSAREQHFHSQVRESTICFLLFAILYVVSYFIITRYKRKSDEQEDEDAIVNRISLFLSTFTLAVSAGAVLLLPFSIISNEILLSFPQNYYIQWLNGSLIHGLWNLASLFSNLCLFVLMPFAFFFLESEGFAGLKKGIRARILETLVMLLLLALLILGIVWVASALIDNDAASMESLYDLWEFYLPYLYSCISLMGCLLLLLCTPVGLSRMFTVMGQLLVKPTILEDLDEQIYIITLEEEALQRRLNGLSSSVEYNIMELEQELENVKTLKTKLERRKKASAWERNLVYPAVMVLLLIETSISVLLVACNILCLLVDETAMPKGTRGPGIGNASLSTFGFVGAALEIILIFYLMVSSVVGFYSLRFFGNFTPKKDDTTMTKIIGNCVSILVLSSALPVMSRTLGITRFDLLGDFGRFNWLGNFYIVLSYNLLFAIVTTLCLVRKFTSAVREELFKALGLHKLHLPNTSRDSETAKPSVNGHQKAL
uniprot
proteins
disease_involvement
DISEASE: Preaxial polydactyly 2 (PPD2) [MIM:174500]: Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. {ECO:0000269|PubMed:12837695}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5, known as ZPA regulatory sequence (ZRS). {ECO:0000269|PubMed:12837695}.; DISEASE: Triphalangeal thumb with polysyndactyly (TPTPS) [MIM:190605]: Autosomal dominant syndrome. It is characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development. {ECO:0000269|PubMed:12837695, ECO:0000269|PubMed:18417549}. Note=The gene represented in this entry is involved in disease pathogenesis. Mutations located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH expression.; DISEASE: Acheiropody (ACHP) [MIM:200500]: Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet. {ECO:0000269|PubMed:11090342}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Syndactyly 4 (SDTY4) [MIM:186200]: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. {ECO:0000269|PubMed:18417549, ECO:0000269|PubMed:24456159}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations consists of duplications (89-589 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and function, but affect SHH limb expression. {ECO:0000269|PubMed:24456159}.; DISEASE: Hypoplasia or aplasia of tibia with polydactyly (THYP) [MIM:188740]: An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. {ECO:0000269|PubMed:19847792, ECO:0000269|PubMed:24777739, ECO:0000269|PubMed:24965254}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5. {ECO:0000269|PubMed:19847792, ECO:0000269|PubMed:24777739, ECO:0000269|PubMed:24965254}.; DISEASE: Laurin-Sandrow syndrome (LSS) [MIM:135750]: A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome). {ECO:0000269|PubMed:24456159}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations consists of duplications (16-75 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and function, but affect SHH limb expression. {ECO:0000269|PubMed:24456159}.
uniprot
proteins
function
FUNCTION: Putative membrane receptor.
uniprot
proteins
mass_dalton
55098
uniprot
proteins
protein_family
LIMR family
uniprot
proteins
pubmed
10329000
uniprot
proteins
pubmed
11090342
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12837695
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18417549
uniprot
proteins
pubmed
19847792
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24456159
uniprot
proteins
pubmed
24777739
uniprot
proteins
pubmed
24965254
uniprot
proteins
sequence_length
490
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 20..40; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 63..83; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 111..131; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 152..172; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 188..208; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 292..312; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 340..360; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 384..404; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 427..447; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins