Q8WVP7 (LMBR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 80.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Limb region 1 protein homolog Alternative name(s): Differentiation-related gene 14 protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 490 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Putative membrane receptor. |
| Subcellular location | Membrane; Multi-pass membrane protein By similarity. |
| Tissue specificity | Widely expressed with strongest expression in heart and pancreas. Ref.8 |
| Involvement in 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. 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 diaphysisand aplasia of the radius, ulna, fibulaand of all the bones of the hands and feet. Syndactyly 4 (SDTY4) [MIM:186200]: Very rare congenital distal limb malformation 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. The condition is inherited as an autosomal dominant trait. |
| Sequence similarities | Belongs to the LIMR family. |
| Sequence caution | The sequence AAD43188.1 differs from that shown. Reason: Erroneous initiation. The sequence AAK31345.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB15595.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Transmembrane Transmembrane helix |
| Molecular function | Receptor |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | embryonic digit morphogenesis Inferred from electronic annotation. Source: Compara |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8WVP7-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8WVP7-2) The sequence of this isoform differs from the canonical sequence as follows: 205-466: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8WVP7-3) The sequence of this isoform differs from the canonical sequence as follows: 252-253: NG → NVGMLCAGNPEVATGRQVPEEQAGQLLLGKWIQEGGDMIANPR | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 490 | 490 | Limb region 1 protein homolog | PRO_0000053906 | |||||
Regions | |||||||||
| Topological domain | 1 – 19 | 19 | Extracellular Potential | ||||||
| Transmembrane | 20 – 40 | 21 | Helical; Potential | ||||||
| Topological domain | 41 – 62 | 22 | Cytoplasmic Potential | ||||||
| Transmembrane | 63 – 83 | 21 | Helical; Potential | ||||||
| Topological domain | 84 – 110 | 27 | Extracellular Potential | ||||||
| Transmembrane | 111 – 131 | 21 | Helical; Potential | ||||||
| Topological domain | 132 – 151 | 20 | Cytoplasmic Potential | ||||||
| Transmembrane | 152 – 172 | 21 | Helical; Potential | ||||||
| Topological domain | 173 – 187 | 15 | Extracellular Potential | ||||||
| Transmembrane | 188 – 208 | 21 | Helical; Potential | ||||||
| Topological domain | 209 – 291 | 83 | Cytoplasmic Potential | ||||||
| Transmembrane | 292 – 312 | 21 | Helical; Potential | ||||||
| Topological domain | 313 – 339 | 27 | Extracellular Potential | ||||||
| Transmembrane | 340 – 360 | 21 | Helical; Potential | ||||||
| Topological domain | 361 – 383 | 23 | Cytoplasmic Potential | ||||||
| Transmembrane | 384 – 404 | 21 | Helical; Potential | ||||||
| Topological domain | 405 – 426 | 22 | Extracellular Potential | ||||||
| Transmembrane | 427 – 447 | 21 | Helical; Potential | ||||||
| Topological domain | 448 – 490 | 43 | Cytoplasmic Potential | ||||||
| Coiled coil | 250 – 287 | 38 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 205 – 466 | 262 | Missing in isoform 2. | VSP_016888 | |||||
| Alternative sequence | 252 – 253 | 2 | NG → NVGMLCAGNPEVATGRQVPE EQAGQLLLGKWIQEGGDMIA NPR in isoform 3. | VSP_017441 | |||||
| Natural variant | 228 | 1 | T → A. Corresponds to variant rs6957768 [ dbSNP | Ensembl ]. | VAR_031900 | |||||
Experimental info | |||||||||
| Sequence conflict | 41 | 1 | R → G in AAK94061. Ref.1 | ||||||
| Sequence conflict | 76 | 1 | L → S in AAK94061. Ref.1 | ||||||
| Sequence conflict | 96 | 1 | Y → C in CAD39056. Ref.7 | ||||||
| Sequence conflict | 349 | 1 | A → V in AAK94061. Ref.1 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF348513 mRNA. Translation: AAK31345.1. Different initiation. AF402318 mRNA. Translation: AAK94061.1. AK021727 mRNA. Translation: BAB13880.1. AK026940 mRNA. Translation: BAB15595.1. Different initiation. AC005534 Genomic DNA. Translation: AAD43188.1. Different initiation. AC007075 Genomic DNA. Translation: AAF03516.1. AC007097 Genomic DNA. No translation available. CH236954 Genomic DNA. Translation: EAL23920.1. CH471149 Genomic DNA. Translation: EAX04559.1. BC017663 mRNA. Translation: AAH17663.1. AL834394 mRNA. Translation: CAD39056.1. |
| IPI | IPI00385238. IPI00386956. IPI00413720. |
| RefSeq | NP_071903.2. NM_022458.3. |
| UniGene | Hs.209989. |
3D structure databases | |
| ProteinModelPortal | Q8WVP7. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8WVP7. 1 interaction. |
| STRING | 9606.ENSP00000326604. |
PTM databases | |
| PhosphoSite | Q8WVP7. |
Polymorphism databases | |
| DMDM | 74730878. |
Proteomic databases | |
| PaxDb | Q8WVP7. |
| PRIDE | Q8WVP7. |
Protocols and materials databases | |
| DNASU | 64327. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000353442; ENSP00000326604; ENSG00000105983. ENST00000354505; ENSP00000346500; ENSG00000105983. |
| GeneID | 64327. |
| KEGG | hsa:64327. |
| UCSC | uc003wmw.4. human. uc010lqn.3. human. |
Organism-specific databases | |
| CTD | 64327. |
| GeneCards | GC07M156473. |
| HGNC | HGNC:13243. LMBR1. |
| HPA | HPA016592. |
| MIM | 174500. phenotype. 186200. phenotype. 200500. phenotype. 605522. gene. |
| neXtProt | NX_Q8WVP7. |
| Orphanet | 295118. Adactyly of foot, bilateral. 295116. Adactyly of foot, unilateral. 3332. Hypoplastic tibiae - postaxial polydactyly. 295150. Polydactyly of a triphalangeal thumb, bilateral. 295148. Polydactyly of a triphalangeal thumb, unilateral. 295071. Radial hemimelia, bilateral. 295069. Radial hemimelia, unilateral. 93405. Syndactyly type 4. 2950. Triphalangeal thumb - polysyndactyly syndrome. |
| PharmGKB | PA25945. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG246746. |
| HOVERGEN | HBG072983. |
| OMA | TAMPKGS. |
| OrthoDB | EOG4TF0K6. |
Gene expression databases | |
| ArrayExpress | Q8WVP7. |
| Bgee | Q8WVP7. |
| CleanEx | HS_LMBR1. |
| Genevestigator | Q8WVP7. |
| GermOnline | ENSG00000105983. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008075. Lipcalin_1_rcpt. IPR006876. LMBR1-like_membr_prot. [Graphical view] |
| Pfam | PF04791. LMBR1. 1 hit. [Graphical view] |
| PRINTS | PR01692. LIPOCALINIMR. |
| ProtoNet | Search... |
Other | |
| ChiTaRS | LMBR1. human. |
| GenomeRNAi | 64327. |
| NextBio | 66253. |
| SOURCE | Search... |
Entry information
| Entry name | LMBR1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WVP7 Secondary accession number(s): A4D242 Q9Y6U2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
