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Entry version 122 (18 Sep 2019)
Sequence version 1 (01 Mar 2002)
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Protein

Limb region 1 protein homolog

Gene

LMBR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Putative membrane receptor.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Limb region 1 protein homolog
Alternative name(s):
Differentiation-related gene 14 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LMBR1
Synonyms:C7orf2, DIF14
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13243 LMBR1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605522 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WVP7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 19ExtracellularSequence analysisAdd BLAST19
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei20 – 40HelicalSequence analysisAdd BLAST21
Topological domaini41 – 62CytoplasmicSequence analysisAdd BLAST22
Transmembranei63 – 83HelicalSequence analysisAdd BLAST21
Topological domaini84 – 110ExtracellularSequence analysisAdd BLAST27
Transmembranei111 – 131HelicalSequence analysisAdd BLAST21
Topological domaini132 – 151CytoplasmicSequence analysisAdd BLAST20
Transmembranei152 – 172HelicalSequence analysisAdd BLAST21
Topological domaini173 – 187ExtracellularSequence analysisAdd BLAST15
Transmembranei188 – 208HelicalSequence analysisAdd BLAST21
Topological domaini209 – 291CytoplasmicSequence analysisAdd BLAST83
Transmembranei292 – 312HelicalSequence analysisAdd BLAST21
Topological domaini313 – 339ExtracellularSequence analysisAdd BLAST27
Transmembranei340 – 360HelicalSequence analysisAdd BLAST21
Topological domaini361 – 383CytoplasmicSequence analysisAdd BLAST23
Transmembranei384 – 404HelicalSequence analysisAdd BLAST21
Topological domaini405 – 426ExtracellularSequence analysisAdd BLAST22
Transmembranei427 – 447HelicalSequence analysisAdd BLAST21
Topological domaini448 – 490CytoplasmicSequence analysisAdd BLAST43

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Preaxial polydactyly 2 (PPD2)1 Publication
The disease is caused by mutations 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).1 Publication
Disease descriptionPolydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal.
Related information in OMIM
Acheiropody (ACHP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionVery 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.
Related information in OMIM
Syndactyly 4 (SDTY4)2 Publications
The disease is caused by mutations 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.1 Publication
Disease descriptionA 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.
Related information in OMIM
Hypoplasia or aplasia of tibia with polydactyly (THYP)3 Publications
The disease is caused by mutations 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 5.3 Publications
Disease descriptionAn autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly.
Related information in OMIM
Laurin-Sandrow syndrome (LSS)1 Publication
The disease is caused by mutations 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.1 Publication
Disease descriptionA 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).
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
64327

MalaCards human disease database

More...
MalaCardsi
LMBR1
MIMi135750 phenotype
174500 phenotype
186200 phenotype
188740 phenotype
200500 phenotype

Open Targets

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OpenTargetsi
ENSG00000105983

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
931 Acheiropodia
3332 Hypoplastic tibiae-postaxial polydactyly syndrome
2378 Laurin-Sandrow syndrome
93336 Polydactyly of a triphalangeal thumb
93321 Radial hemimelia
93405 Syndactyly type 4
2950 Triphalangeal thumb-polysyndactyly syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25945

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8WVP7

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LMBR1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74730878

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000539061 – 490Limb region 1 protein homologAdd BLAST490

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8WVP7

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8WVP7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8WVP7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8WVP7

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8WVP7

PeptideAtlas

More...
PeptideAtlasi
Q8WVP7

PRoteomics IDEntifications database

More...
PRIDEi
Q8WVP7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
74810 [Q8WVP7-1]
74811 [Q8WVP7-2]
74812 [Q8WVP7-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8WVP7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8WVP7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed with strongest expression in heart and pancreas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000105983 Expressed in 190 organ(s), highest expression level in adrenal tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8WVP7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8WVP7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA016592

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122137, 53 interactors

Protein interaction database and analysis system

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IntActi
Q8WVP7, 35 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000326604

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8WVP7

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili250 – 287Sequence analysisAdd BLAST38

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the LIMR family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3722 Eukaryota
ENOG410YKEX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000007809

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8WVP7

Database of Orthologous Groups

More...
OrthoDBi
1162336at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8WVP7

TreeFam database of animal gene trees

More...
TreeFami
TF313485

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008075 LIMR
IPR006876 LMBR1-like_membr_prot

The PANTHER Classification System

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PANTHERi
PTHR12625 PTHR12625, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF04791 LMBR1, 2 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01692 LIPOCALINIMR

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WVP7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEGQDEVSAR EQHFHSQVRE STICFLLFAI LYVVSYFIIT RYKRKSDEQE
60 70 80 90 100
DEDAIVNRIS LFLSTFTLAV SAGAVLLLPF SIISNEILLS FPQNYYIQWL
110 120 130 140 150
NGSLIHGLWN LASLFSNLCL FVLMPFAFFF LESEGFAGLK KGIRARILET
160 170 180 190 200
LVMLLLLALL ILGIVWVASA LIDNDAASME SLYDLWEFYL PYLYSCISLM
210 220 230 240 250
GCLLLLLCTP VGLSRMFTVM GQLLVKPTIL EDLDEQIYII TLEEEALQRR
260 270 280 290 300
LNGLSSSVEY NIMELEQELE NVKTLKTKLE RRKKASAWER NLVYPAVMVL
310 320 330 340 350
LLIETSISVL LVACNILCLL VDETAMPKGT RGPGIGNASL STFGFVGAAL
360 370 380 390 400
EIILIFYLMV SSVVGFYSLR FFGNFTPKKD DTTMTKIIGN CVSILVLSSA
410 420 430 440 450
LPVMSRTLGI TRFDLLGDFG RFNWLGNFYI VLSYNLLFAI VTTLCLVRKF
460 470 480 490
TSAVREELFK ALGLHKLHLP NTSRDSETAK PSVNGHQKAL
Length:490
Mass (Da):55,098
Last modified:March 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i228A0EEF248BAD2C
GO
Isoform 2 (identifier: Q8WVP7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-466: Missing.

Note: No experimental confirmation available.
Show »
Length:228
Mass (Da):25,836
Checksum:iFD806A8E1EF3E356
GO
Isoform 3 (identifier: Q8WVP7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     252-253: NG → NVGMLCAGNPEVATGRQVPEEQAGQLLLGKWIQEGGDMIANPR

Note: No experimental confirmation available.
Show »
Length:531
Mass (Da):59,458
Checksum:i01928A8E126C96CA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q8NDP7Q8NDP7_HUMAN
Limb region 1 protein homolog
LMBR1 DKFZp547F222
284Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y6V6H0Y6V6_HUMAN
Limb region 1 protein homolog
LMBR1
529Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F2Z2Z3F2Z2Z3_HUMAN
Limb region 1 protein homolog
LMBR1
77Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WB14F8WB14_HUMAN
Limb region 1 protein homolog
LMBR1
48Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WDW0F8WDW0_HUMAN
Limb region 1 protein homolog
LMBR1
52Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEN8F8WEN8_HUMAN
Limb region 1 protein homolog
LMBR1
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1Y4H7C1Y4_HUMAN
Limb region 1 protein homolog
LMBR1
45Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCL1F8WCL1_HUMAN
Limb region 1 protein homolog
LMBR1
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEK4F8WEK4_HUMAN
Limb region 1 protein homolog
LMBR1
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQV9A0A1W2PQV9_HUMAN
Limb region 1 protein homolog
LMBR1
30Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD43188 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAK31345 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB15595 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti41R → G in AAK94061 (Ref. 1) Curated1
Sequence conflicti76L → S in AAK94061 (Ref. 1) Curated1
Sequence conflicti96Y → C in CAD39056 (PubMed:17974005).Curated1
Sequence conflicti349A → V in AAK94061 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031900228T → A. Corresponds to variant dbSNP:rs6957768EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_016888205 – 466Missing in isoform 2. 1 PublicationAdd BLAST262
Alternative sequenceiVSP_017441252 – 253NG → NVGMLCAGNPEVATGRQVPE EQAGQLLLGKWIQEGGDMIA NPR in isoform 3. 1 Publication2

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS5945.1 [Q8WVP7-1]

NCBI Reference Sequences

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RefSeqi
NP_071903.2, NM_022458.3 [Q8WVP7-1]
XP_016867996.1, XM_017012507.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000353442; ENSP00000326604; ENSG00000105983 [Q8WVP7-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64327

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64327

UCSC genome browser

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UCSCi
uc003wmw.5 human [Q8WVP7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS5945.1 [Q8WVP7-1]
RefSeqiNP_071903.2, NM_022458.3 [Q8WVP7-1]
XP_016867996.1, XM_017012507.1

3D structure databases

SMRiQ8WVP7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122137, 53 interactors
IntActiQ8WVP7, 35 interactors
STRINGi9606.ENSP00000326604

PTM databases

iPTMnetiQ8WVP7
PhosphoSitePlusiQ8WVP7

Polymorphism and mutation databases

BioMutaiLMBR1
DMDMi74730878

Proteomic databases

EPDiQ8WVP7
jPOSTiQ8WVP7
MassIVEiQ8WVP7
MaxQBiQ8WVP7
PaxDbiQ8WVP7
PeptideAtlasiQ8WVP7
PRIDEiQ8WVP7
ProteomicsDBi74810 [Q8WVP7-1]
74811 [Q8WVP7-2]
74812 [Q8WVP7-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
64327

Genome annotation databases

EnsembliENST00000353442; ENSP00000326604; ENSG00000105983 [Q8WVP7-1]
GeneIDi64327
KEGGihsa:64327
UCSCiuc003wmw.5 human [Q8WVP7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
64327
DisGeNETi64327

GeneCards: human genes, protein and diseases

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GeneCardsi
LMBR1
HGNCiHGNC:13243 LMBR1
HPAiHPA016592
MalaCardsiLMBR1
MIMi135750 phenotype
174500 phenotype
186200 phenotype
188740 phenotype
200500 phenotype
605522 gene
neXtProtiNX_Q8WVP7
OpenTargetsiENSG00000105983
Orphaneti931 Acheiropodia
3332 Hypoplastic tibiae-postaxial polydactyly syndrome
2378 Laurin-Sandrow syndrome
93336 Polydactyly of a triphalangeal thumb
93321 Radial hemimelia
93405 Syndactyly type 4
2950 Triphalangeal thumb-polysyndactyly syndrome
PharmGKBiPA25945

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3722 Eukaryota
ENOG410YKEX LUCA
GeneTreeiENSGT00390000007809
InParanoidiQ8WVP7
OrthoDBi1162336at2759
PhylomeDBiQ8WVP7
TreeFamiTF313485

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
LMBR1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LMBR1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
64327
PharosiQ8WVP7

Protein Ontology

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PROi
PR:Q8WVP7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000105983 Expressed in 190 organ(s), highest expression level in adrenal tissue
ExpressionAtlasiQ8WVP7 baseline and differential
GenevisibleiQ8WVP7 HS

Family and domain databases

InterProiView protein in InterPro
IPR008075 LIMR
IPR006876 LMBR1-like_membr_prot
PANTHERiPTHR12625 PTHR12625, 1 hit
PfamiView protein in Pfam
PF04791 LMBR1, 2 hits
PRINTSiPR01692 LIPOCALINIMR

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLMBR1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8WVP7
Secondary accession number(s): A4D242
, Q8N3E3, Q96QZ5, Q9H5N0, Q9HAG9, Q9UDN5, Q9Y6U2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: March 1, 2002
Last modified: September 18, 2019
This is version 122 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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