LMBR1_HUMAN
ID LMBR1_HUMAN Reviewed; 490 AA.
AC Q8WVP7; A4D242; Q8N3E3; Q96QZ5; Q9H5N0; Q9HAG9; Q9UDN5; Q9Y6U2;
DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Limb region 1 protein homolog;
DE AltName: Full=Differentiation-related gene 14 protein;
GN Name=LMBR1; Synonyms=C7orf2, DIF14;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Leukemia;
RA Wang Z., Huang G.-S.;
RT "Cloning and expression analysis of leukemia cell line K562
RT differentiation-related gene DIF14.";
RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 356-490 (ISOFORM 1).
RC TISSUE=Embryo, and Hepatoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-490 (ISOFORM 3).
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [8]
RP TISSUE SPECIFICITY.
RX PubMed=10329000; DOI=10.1006/geno.1999.5796;
RA Heus H.C., Hing A., van Baren M.J., Joosse M., Breedveld G.J., Wang J.C.,
RA Burgess A., Donnis-Keller H., Berglund C., Zguricas J., Scherer S.W.,
RA Rommens J.M., Oostra B.A., Heutink P.;
RT "A physical and transcriptional map of the preaxial polydactyly locus on
RT chromosome 7q36.";
RL Genomics 57:342-351(1999).
RN [9]
RP INVOLVEMENT IN ACHP.
RX PubMed=11090342; DOI=10.1086/316955;
RA Ianakiev P., van Baren M.J., Daly M.J., Toledo S.P., Cavalcanti M.G.,
RA Neto J.C., Silveira E.L., Freire-Maia A., Heutink P., Kilpatrick M.W.,
RA Tsipouras P.;
RT "Acheiropodia is caused by a genomic deletion in C7orf2, the human
RT orthologue of the Lmbr1 gene.";
RL Am. J. Hum. Genet. 68:38-45(2001).
RN [10]
RP ASSOCIATION WITH PPD2.
RX PubMed=12837695; DOI=10.1093/hmg/ddg180;
RA Lettice L.A., Heaney S.J.H., Purdie L.A., Li L., de Beer P., Oostra B.A.,
RA Goode D., Elgar G., Hill R.E., de Graaff E.;
RT "A long-range Shh enhancer regulates expression in the developing limb and
RT fin and is associated with preaxial polydactyly.";
RL Hum. Mol. Genet. 12:1725-1735(2003).
RN [11]
RP INVOLVEMENT IN SDTY4.
RX PubMed=18417549; DOI=10.1136/jmg.2008.057646;
RA Sun M., Ma F., Zeng X., Liu Q., Zhao X.-L., Wu F.-X., Wu G.-P.,
RA Zhang Z.-F., Gu B., Zhao Y.-F., Tian S.-H., Lin B., Kong X.-Y.,
RA Zhang X.-L., Yang W., Lo W.H.-Y., Zhang X.;
RT "Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are
RT caused by genomic duplications involving the long range, limb-specific SHH
RT enhancer.";
RL J. Med. Genet. 45:589-595(2008).
RN [12]
RP INVOLVEMENT IN THYP.
RX PubMed=19847792; DOI=10.1002/humu.21142;
RA Wieczorek D., Pawlik B., Li Y., Akarsu N.A., Caliebe A., May K.J.,
RA Schweiger B., Vargas F.R., Balci S., Gillessen-Kaesbach G., Wollnik B.;
RT "A specific mutation in the distant sonic hedgehog (SHH) cis-regulator
RT (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS
RT duplications underlie Haas type polysyndactyly and preaxial polydactyly
RT (PPD) with or without triphalangeal thumb.";
RL Hum. Mutat. 31:81-89(2010).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [14]
RP INVOLVEMENT IN SDTY4 AND LSS.
RX PubMed=24456159; DOI=10.1111/cge.12352;
RA Lohan S., Spielmann M., Doelken S.C., Floettmann R., Muhammad F.,
RA Baig S.M., Wajid M., Huelsemann W., Habenicht R., Kjaer K.W., Patil S.J.,
RA Girisha K.M., Abarca-Barriga H.H., Mundlos S., Klopocki E.;
RT "Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are
RT associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.";
RL Clin. Genet. 86:318-325(2014).
RN [15]
RP INVOLVEMENT IN THYP.
RX PubMed=24965254; DOI=10.1038/jhg.2014.50;
RA Norbnop P., Srichomthong C., Suphapeetiporn K., Shotelersuk V.;
RT "ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and
RT triphalangeal first fingers.";
RL J. Hum. Genet. 59:467-470(2014).
RN [16]
RP INVOLVEMENT IN THYP.
RX PubMed=24777739; DOI=10.1002/humu.22581;
RA VanderMeer J.E., Lozano R., Sun M., Xue Y., Daentl D., Jabs E.W.,
RA Wilcox W.R., Ahituv N.;
RT "A novel ZRS mutation leads to preaxial polydactyly type 2 in a
RT heterozygous form and Werner mesomelic syndrome in a homozygous form.";
RL Hum. Mutat. 35:945-948(2014).
CC -!- FUNCTION: Putative membrane receptor.
CC -!- INTERACTION:
CC Q8WVP7; O95214: LEPROTL1; NbExp=3; IntAct=EBI-6138627, EBI-750776;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8WVP7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WVP7-2; Sequence=VSP_016888;
CC Name=3;
CC IsoId=Q8WVP7-3; Sequence=VSP_017441;
CC -!- TISSUE SPECIFICITY: Widely expressed with strongest expression in heart
CC and pancreas. {ECO:0000269|PubMed:10329000}.
CC -!- DISEASE: Preaxial polydactyly 2 (PPD2) [MIM:174500]: Polydactyly
CC consists of duplication of the distal phalanx. The thumb in PPD2 is
CC usually opposable and possesses a normal metacarpal.
CC {ECO:0000269|PubMed:12837695}. Note=The disease is caused by variants
CC affecting the gene represented in this entry. Disease-causing mutations
CC are located in intron 5 of LMBR1. The mutations do not alter normal
CC LMBR1 expression and function, but disrupt a long-range, cis-regulatory
CC element of SHH expression contained in LMBR1 intron 5, known as ZPA
CC regulatory sequence (ZRS). {ECO:0000269|PubMed:12837695}.
CC -!- DISEASE: Acheiropody (ACHP) [MIM:200500]: Very rare condition
CC characterized by bilateral congenital amputations of the hands and
CC feet. The specific malformative phenotype consists of a complete
CC amputation of the distal epiphysis of the humerus, amputation of the
CC tibial diaphysis and aplasia of the radius, ulna, fibula and of all the
CC bones of the hands and feet. {ECO:0000269|PubMed:11090342}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Syndactyly 4 (SDTY4) [MIM:186200]: A form of syndactyly, a
CC congenital anomaly of the hand or foot marked by persistence of the
CC webbing between adjacent digits that are more or less completely
CC attached. SDTY4 is characterized by complete bilateral syndactyly
CC (involving all digits 1 to 5). A frequent association with polydactyly
CC (with six metacarpals and six digits) has been reported. Feet are
CC affected occasionally. {ECO:0000269|PubMed:18417549,
CC ECO:0000269|PubMed:24456159}. Note=The disease is caused by variants
CC affecting the gene represented in this entry. Disease-causing mutations
CC consists of duplications (89-589 kb) involving the ZPA regulatory
CC sequence (ZRS), a SHH long-range cis-regulatory element, located in
CC LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and
CC function, but affect SHH limb expression.
CC {ECO:0000269|PubMed:24456159}.
CC -!- DISEASE: Hypoplasia or aplasia of tibia with polydactyly (THYP)
CC [MIM:188740]: An autosomal dominant disease characterized by
CC hypoplastic or absent tibia, and polydactyly.
CC {ECO:0000269|PubMed:19847792, ECO:0000269|PubMed:24777739,
CC ECO:0000269|PubMed:24965254}. Note=The disease is caused by variants
CC affecting the gene represented in this entry. Disease-causing mutations
CC are located in intron 5 of LMBR1. The mutations do not alter normal
CC LMBR1 expression and function, but disrupt a long-range, cis-regulatory
CC element of SHH expression contained in LMBR1 intron 5.
CC {ECO:0000269|PubMed:19847792, ECO:0000269|PubMed:24777739,
CC ECO:0000269|PubMed:24965254}.
CC -!- DISEASE: Laurin-Sandrow syndrome (LSS) [MIM:135750]: A rare autosomal
CC dominant disorder characterized by polysyndactyly of hands and/or feet,
CC mirror image duplication of the feet, nasal defects, and loss of
CC identity between fibula and tibia. Some patients do not have nasal
CC abnormalities (segmental Laurin-Sandrow syndrome).
CC {ECO:0000269|PubMed:24456159}. Note=The disease is caused by variants
CC affecting the gene represented in this entry. Disease-causing mutations
CC consists of duplications (16-75 kb) involving the ZPA regulatory
CC sequence (ZRS), a SHH long-range cis-regulatory element, located in
CC LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and
CC function, but affect SHH limb expression.
CC {ECO:0000269|PubMed:24456159}.
CC -!- SIMILARITY: Belongs to the LIMR family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD43188.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAK31345.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB15595.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF348513; AAK31345.1; ALT_INIT; mRNA.
DR EMBL; AF402318; AAK94061.1; -; mRNA.
DR EMBL; AK021727; BAB13880.1; -; mRNA.
DR EMBL; AK026940; BAB15595.1; ALT_INIT; mRNA.
DR EMBL; AC005534; AAD43188.1; ALT_INIT; Genomic_DNA.
DR EMBL; AC007075; AAF03516.1; -; Genomic_DNA.
DR EMBL; AC007097; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236954; EAL23920.1; -; Genomic_DNA.
DR EMBL; CH471149; EAX04559.1; -; Genomic_DNA.
DR EMBL; BC017663; AAH17663.1; -; mRNA.
DR EMBL; AL834394; CAD39056.1; -; mRNA.
DR CCDS; CCDS5945.1; -. [Q8WVP7-1]
DR RefSeq; NP_071903.2; NM_022458.3. [Q8WVP7-1]
DR RefSeq; XP_016867996.1; XM_017012507.1.
DR AlphaFoldDB; Q8WVP7; -.
DR SMR; Q8WVP7; -.
DR BioGRID; 122137; 87.
DR IntAct; Q8WVP7; 36.
DR MINT; Q8WVP7; -.
DR STRING; 9606.ENSP00000326604; -.
DR iPTMnet; Q8WVP7; -.
DR PhosphoSitePlus; Q8WVP7; -.
DR BioMuta; LMBR1; -.
DR DMDM; 74730878; -.
DR EPD; Q8WVP7; -.
DR jPOST; Q8WVP7; -.
DR MassIVE; Q8WVP7; -.
DR MaxQB; Q8WVP7; -.
DR PaxDb; Q8WVP7; -.
DR PeptideAtlas; Q8WVP7; -.
DR PRIDE; Q8WVP7; -.
DR ProteomicsDB; 74810; -. [Q8WVP7-1]
DR ProteomicsDB; 74811; -. [Q8WVP7-2]
DR ProteomicsDB; 74812; -. [Q8WVP7-3]
DR Antibodypedia; 18896; 149 antibodies from 22 providers.
DR DNASU; 64327; -.
DR Ensembl; ENST00000353442.10; ENSP00000326604.7; ENSG00000105983.23. [Q8WVP7-1]
DR GeneID; 64327; -.
DR KEGG; hsa:64327; -.
DR MANE-Select; ENST00000353442.10; ENSP00000326604.7; NM_022458.4; NP_071903.2.
DR UCSC; uc003wmw.5; human. [Q8WVP7-1]
DR CTD; 64327; -.
DR DisGeNET; 64327; -.
DR GeneCards; LMBR1; -.
DR HGNC; HGNC:13243; LMBR1.
DR HPA; ENSG00000105983; Low tissue specificity.
DR MalaCards; LMBR1; -.
DR MIM; 135750; phenotype.
DR MIM; 174500; phenotype.
DR MIM; 186200; phenotype.
DR MIM; 188740; phenotype.
DR MIM; 200500; phenotype.
DR MIM; 605522; gene.
DR neXtProt; NX_Q8WVP7; -.
DR OpenTargets; ENSG00000105983; -.
DR Orphanet; 931; Acheiropodia.
DR Orphanet; 3332; Hypoplastic tibiae-postaxial polydactyly syndrome.
DR Orphanet; 2378; Laurin-Sandrow syndrome.
DR Orphanet; 93336; Polydactyly of a triphalangeal thumb.
DR Orphanet; 93321; Radial hemimelia.
DR Orphanet; 93405; Syndactyly type 4.
DR Orphanet; 2950; Triphalangeal thumb-polysyndactyly syndrome.
DR PharmGKB; PA25945; -.
DR VEuPathDB; HostDB:ENSG00000105983; -.
DR eggNOG; KOG3722; Eukaryota.
DR GeneTree; ENSGT00390000007809; -.
DR HOGENOM; CLU_029445_1_0_1; -.
DR InParanoid; Q8WVP7; -.
DR OMA; YFIIRRY; -.
DR OrthoDB; 768229at2759; -.
DR PhylomeDB; Q8WVP7; -.
DR TreeFam; TF313485; -.
DR PathwayCommons; Q8WVP7; -.
DR SignaLink; Q8WVP7; -.
DR BioGRID-ORCS; 64327; 7 hits in 1078 CRISPR screens.
DR ChiTaRS; LMBR1; human.
DR GeneWiki; LMBR1; -.
DR GenomeRNAi; 64327; -.
DR Pharos; Q8WVP7; Tbio.
DR PRO; PR:Q8WVP7; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8WVP7; protein.
DR Bgee; ENSG00000105983; Expressed in adrenal tissue and 178 other tissues.
DR ExpressionAtlas; Q8WVP7; baseline and differential.
DR Genevisible; Q8WVP7; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0004888; F:transmembrane signaling receptor activity; IBA:GO_Central.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR InterPro; IPR008075; LIMR.
DR InterPro; IPR006876; LMBR1-like_membr_prot.
DR PANTHER; PTHR12625; PTHR12625; 1.
DR Pfam; PF04791; LMBR1; 2.
DR PRINTS; PR01692; LIPOCALINIMR.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Membrane; Receptor; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..490
FT /note="Limb region 1 protein homolog"
FT /id="PRO_0000053906"
FT TOPO_DOM 1..19
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 20..40
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 41..62
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 63..83
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 84..110
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 111..131
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 132..151
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 152..172
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 173..187
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 188..208
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 209..291
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 292..312
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 313..339
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 340..360
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 361..383
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 384..404
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 405..426
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 427..447
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 448..490
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT COILED 250..287
FT /evidence="ECO:0000255"
FT VAR_SEQ 205..466
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_016888"
FT VAR_SEQ 252..253
FT /note="NG -> NVGMLCAGNPEVATGRQVPEEQAGQLLLGKWIQEGGDMIANPR
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_017441"
FT VARIANT 228
FT /note="T -> A (in dbSNP:rs6957768)"
FT /id="VAR_031900"
FT CONFLICT 41
FT /note="R -> G (in Ref. 1; AAK94061)"
FT /evidence="ECO:0000305"
FT CONFLICT 76
FT /note="L -> S (in Ref. 1; AAK94061)"
FT /evidence="ECO:0000305"
FT CONFLICT 96
FT /note="Y -> C (in Ref. 7; CAD39056)"
FT /evidence="ECO:0000305"
FT CONFLICT 349
FT /note="A -> V (in Ref. 1; AAK94061)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 490 AA; 55098 MW; 228A0EEF248BAD2C CRC64;
MEGQDEVSAR EQHFHSQVRE STICFLLFAI LYVVSYFIIT RYKRKSDEQE DEDAIVNRIS
LFLSTFTLAV SAGAVLLLPF SIISNEILLS FPQNYYIQWL NGSLIHGLWN LASLFSNLCL
FVLMPFAFFF LESEGFAGLK KGIRARILET LVMLLLLALL ILGIVWVASA LIDNDAASME
SLYDLWEFYL PYLYSCISLM GCLLLLLCTP VGLSRMFTVM GQLLVKPTIL EDLDEQIYII
TLEEEALQRR LNGLSSSVEY NIMELEQELE NVKTLKTKLE RRKKASAWER NLVYPAVMVL
LLIETSISVL LVACNILCLL VDETAMPKGT RGPGIGNASL STFGFVGAAL EIILIFYLMV
SSVVGFYSLR FFGNFTPKKD DTTMTKIIGN CVSILVLSSA LPVMSRTLGI TRFDLLGDFG
RFNWLGNFYI VLSYNLLFAI VTTLCLVRKF TSAVREELFK ALGLHKLHLP NTSRDSETAK
PSVNGHQKAL
