LMBR1_CHICK
ID LMBR1_CHICK Reviewed; 488 AA.
AC Q7ZUA6; B2CW63; E0W5S4; E0W5S5; E0W5S6; E0W5S7; Q7ZZZ1; Q90WF5;
DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 81.
DE RecName: Full=Limb region 1 protein homolog;
GN Name=LMBR1; Synonyms=SAPH1;
OS Gallus gallus (Chicken).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda;
OC Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae;
OC Phasianinae; Gallus.
OX NCBI_TaxID=9031;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Limb bud;
RX PubMed=14991708; DOI=10.1002/dvdy.10502;
RA Maas S.A., Fallon J.F.;
RT "Isolation of the chicken Lmbr1 coding sequence and characterization of its
RT role during chick limb development.";
RL Dev. Dyn. 229:520-528(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND VARIANT GLN-266.
RC TISSUE=Embryo;
RX PubMed=16650944; DOI=10.1016/j.gene.2005.07.047;
RA Huang Y.Q., Deng X.M., Du Z.Q., Qiu X., Du X., Chen W., Morisson M.,
RA Leroux S., Ponce de Leon F.A., Da Y., Li N.;
RT "Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated
RT with chicken polydactyly.";
RL Gene 374C:10-18(2006).
RN [3]
RP SEQUENCE REVISION TO N-TERMINUS.
RA Qiu X.P.;
RL Submitted (APR-2007) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), ALTERNATIVE SPLICING, TISSUE
RP SPECIFICITY, AND VARIANT GLN-266.
RC TISSUE=Heart;
RX PubMed=21161408; DOI=10.1007/s11033-010-0567-3;
RA Huang Y., Chen W., Li N., Deng X., Kang X., Liu X.;
RT "Identification of an alternative splicing isoform of chicken Lmbr1.";
RL Mol. Biol. Rep. 38:4397-4403(2011).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Embryo;
RA Komaguchi C., Yamamoto Y., Nishimatsu S., Nohno T.;
RT "Expression of Lmbr1 in the chick limb bud.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5; 6 AND 7).
RA Huang Y., Chen W., Li N.;
RT "Identification of the alternative splice forms of chicken Lmbr1.";
RL Submitted (MAR-2008) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 270-427 (ISOFORMS 1/2).
RC TISSUE=Limb bud;
RA Horikoshi T., Tao H., Ohuchi H., Shibata M., Endo N., Suzuki M.,
RA Takahashi E., Shinka T., Nakahori Y., Ayusawa D., Nakabayashi K.,
RA Scherer S.W., Noji S.;
RT "Chick ortholog of human preaxial polydactyly candidate gene is expressed
RT in the limb bud.";
RL Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Putative membrane receptor.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=1; Synonyms=Long;
CC IsoId=Q7ZUA6-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q7ZUA6-2; Sequence=VSP_026492;
CC Name=3; Synonyms=Lmbr1-1;
CC IsoId=Q7ZUA6-3; Sequence=VSP_041201;
CC Name=4;
CC IsoId=Q7ZUA6-4; Sequence=VSP_041206, VSP_041207;
CC Name=5;
CC IsoId=Q7ZUA6-5; Sequence=VSP_041200;
CC Name=6;
CC IsoId=Q7ZUA6-6; Sequence=VSP_041202, VSP_041203;
CC Name=7;
CC IsoId=Q7ZUA6-7; Sequence=VSP_041204, VSP_041205;
CC -!- TISSUE SPECIFICITY: Detected ubiquitously at low levels throughout the
CC developing embryo. Present initially in the limb mesoderm as the limb
CC bud emerges from the body wall and up-regulated along the posterior
CC margin of the developing limb bud with progression of the limb
CC outgrowth. Higher levels are detected in limb buds, otic vesicles and
CC pharyngeal arches. Isoform 1 is detected in lung, spleen, heart, breast
CC muscle, cartilage and liver of the adult tissues. Isoform 3 is detected
CC in adult lung, spleen, heart and breast muscle but not detected in
CC cartilage and liver. {ECO:0000269|PubMed:14991708,
CC ECO:0000269|PubMed:21161408}.
CC -!- SIMILARITY: Belongs to the LIMR family. {ECO:0000305}.
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DR EMBL; AY316689; AAQ83702.1; -; mRNA.
DR EMBL; AY251537; AAP04355.2; -; mRNA.
DR EMBL; EF682500; ABU82889.1; -; mRNA.
DR EMBL; AB105057; BAC65224.1; -; mRNA.
DR EMBL; EF682501; ABU82890.1; -; mRNA.
DR EMBL; EF682502; ABU82891.1; -; mRNA.
DR EMBL; EF682503; ABU82892.1; -; mRNA.
DR EMBL; EU551669; ACB59247.1; -; mRNA.
DR EMBL; AB053322; BAB61999.1; -; mRNA.
DR RefSeq; NP_989503.1; NM_204172.1. [Q7ZUA6-1]
DR AlphaFoldDB; Q7ZUA6; -.
DR SMR; Q7ZUA6; -.
DR STRING; 9031.ENSGALP00000010317; -.
DR PaxDb; Q7ZUA6; -.
DR Ensembl; ENSGALT00000071478; ENSGALP00000048492; ENSGALG00000030379. [Q7ZUA6-3]
DR GeneID; 373986; -.
DR KEGG; gga:373986; -.
DR CTD; 64327; -.
DR VEuPathDB; HostDB:geneid_373986; -.
DR eggNOG; KOG3722; Eukaryota.
DR GeneTree; ENSGT00390000007809; -.
DR InParanoid; Q7ZUA6; -.
DR OMA; VREHIQF; -.
DR OrthoDB; 768229at2759; -.
DR PhylomeDB; Q7ZUA6; -.
DR PRO; PR:Q7ZUA6; -.
DR Proteomes; UP000000539; Chromosome 2.
DR Bgee; ENSGALG00000030379; Expressed in spermatid and 13 other tissues.
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: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 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Membrane; Receptor; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..488
FT /note="Limb region 1 protein homolog"
FT /id="PRO_0000053908"
FT TOPO_DOM 1..18
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 19..39
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 40..61
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 62..82
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 83..109
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 131..150
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 151..171
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 172..186
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 187..207
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 208..295
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 296..316
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 317..338
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 339..359
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 360..382
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 383..403
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 404..425
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 426..446
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 447..488
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT COILED 246..286
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..357
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|Ref.6"
FT /id="VSP_041200"
FT VAR_SEQ 1..296
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:21161408"
FT /id="VSP_041201"
FT VAR_SEQ 22..30
FT /note="ICFLLFAVL -> GREVFRILQ (in isoform 6)"
FT /evidence="ECO:0000303|Ref.6"
FT /id="VSP_041202"
FT VAR_SEQ 31..488
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|Ref.6"
FT /id="VSP_041203"
FT VAR_SEQ 60..126
FT /note="LFLSTFTLAVSAGAVLLLPFSIISNEILLSFPQNYYIQWLNGSLIHGLWNLA
FT SLFSNLCLFVLMPFA -> FMESCFSFFQFMFVCVDALCLFLLGVGRICWLKKGDQSTH
FT SGDPCNAHTSCTAYPWNRMGGFSSHRQ (in isoform 7)"
FT /evidence="ECO:0000303|Ref.6"
FT /id="VSP_041204"
FT VAR_SEQ 60..105
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16650944"
FT /id="VSP_026492"
FT VAR_SEQ 127..488
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|Ref.6"
FT /id="VSP_041205"
FT VAR_SEQ 279..312
FT /note="ERRKKASAWERNLVYPAVMILLLIETSISVLLVA -> GNMLFILPQVDCNL
FT SDFKVLCSVCNSDLINSNCF (in isoform 4)"
FT /evidence="ECO:0000303|Ref.6"
FT /id="VSP_041206"
FT VAR_SEQ 313..488
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.6"
FT /id="VSP_041207"
FT VARIANT 266
FT /note="R -> Q (in Lmbr1-N; associated with preaxial
FT polydactyly)"
FT /evidence="ECO:0000269|PubMed:16650944,
FT ECO:0000269|PubMed:21161408"
FT CONFLICT 12
FT /note="N -> I (in Ref. 2; AAP04355 and 6; ACB59247)"
FT /evidence="ECO:0000305"
FT CONFLICT 81
FT /note="I -> M (in Ref. 2; AAP04355)"
FT /evidence="ECO:0000305"
FT CONFLICT 411
FT /note="R -> Q (in Ref. 7; BAB61999)"
FT /evidence="ECO:0000305"
FT CONFLICT 487
FT /note="T -> A (in Ref. 2; AAP04355)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 488 AA; 55084 MW; 7553C35EA44F0E7A CRC64;
MEADEVSIRE QNFHSQVREY TICFLLFAVL YIVSYFIITR YKRKADEQED EDAIVNRISL
FLSTFTLAVS AGAVLLLPFS IISNEILLSF PQNYYIQWLN GSLIHGLWNL ASLFSNLCLF
VLMPFAFFFL ESEGFAGLKK GIRARILETL VMLILLALLI LGIVWVASAL IDNDAASMES
LYDLWEFYLP YLYSCISLMG CLLLLLCTPV GLSRMFTVMG QLLVKPTILE DLDEQMYIIT
LEEEAIQRKL NGISSTLENQ TVELERELEK VKCKKTNLER RKKASAWERN LVYPAVMILL
LIETSISVLL VAFNILYLLV DETAMPKGSG GPGIGNASLS TFGFVGAALE IILIFYLMVS
SVVGFYSLRF FENFIPRKDD TTMTKIIGNC VSILVLSSAL PVMSRTLGIT RFDLLGDFGR
FNWLGNFYIV LSYNLLFAIM TTLCLVRKFT SAVREELLKA LGLDKLHLSN NPRDSETKPS
ANGHQKTL
