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Protein

Limb region 1 protein homolog

Gene

LMBR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Putative membrane receptor.

GO - Biological processi

Keywordsi

Molecular functionReceptor

Names & Taxonomyi

Protein namesi
Recommended name:
Limb region 1 protein homolog
Alternative name(s):
Differentiation-related gene 14 protein
Gene namesi
Name:LMBR1
Synonyms:C7orf2, DIF14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000105983.19
HGNCiHGNC:13243 LMBR1
MIMi605522 gene
neXtProtiNX_Q8WVP7

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 19ExtracellularSequence analysisAdd BLAST19
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

Pathology & Biotechi

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.
See also OMIM:174500
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.
See also OMIM:200500
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.
See also OMIM:186200
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.
See also OMIM:188740
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).
See also OMIM:135750

Organism-specific databases

DisGeNETi64327
MalaCardsiLMBR1
MIMi135750 phenotype
174500 phenotype
186200 phenotype
188740 phenotype
200500 phenotype
OpenTargetsiENSG00000105983
Orphaneti295118 Adactyly of foot, bilateral
295116 Adactyly of foot, unilateral
3332 Hypoplastic tibiae - postaxial polydactyly
2378 Laurin-Sandrow syndrome
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
PharmGKBiPA25945

Polymorphism and mutation databases

BioMutaiLMBR1
DMDMi74730878

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000539061 – 490Limb region 1 protein homologAdd BLAST490

Proteomic databases

EPDiQ8WVP7
MaxQBiQ8WVP7
PaxDbiQ8WVP7
PeptideAtlasiQ8WVP7
PRIDEiQ8WVP7

PTM databases

iPTMnetiQ8WVP7
PhosphoSitePlusiQ8WVP7

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000105983
CleanExiHS_LMBR1
ExpressionAtlasiQ8WVP7 baseline and differential
GenevisibleiQ8WVP7 HS

Organism-specific databases

HPAiHPA016592

Interactioni

Protein-protein interaction databases

BioGridi122137, 52 interactors
IntActiQ8WVP7, 1 interactor
STRINGi9606.ENSP00000326604

Structurei

3D structure databases

ProteinModelPortaliQ8WVP7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili250 – 287Sequence analysisAdd BLAST38

Sequence similaritiesi

Belongs to the LIMR family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3722 Eukaryota
ENOG410YKEX LUCA
GeneTreeiENSGT00390000007809
HOVERGENiHBG072983
InParanoidiQ8WVP7
PhylomeDBiQ8WVP7
TreeFamiTF313485

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

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.

« 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
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

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
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
Natural variantiVAR_031900228T → A. Corresponds to variant dbSNP:rs6957768EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016888205 – 466Missing in isoform 2. 1 PublicationAdd BLAST262
Alternative sequenceiVSP_017441252 – 253NG → NVGMLCAGNPEVATGRQVPE EQAGQLLLGKWIQEGGDMIA NPR in isoform 3. 1 Publication2

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
UniGeneiHs.209989

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Entry informationi

Entry nameiLMBR1_HUMAN
AccessioniPrimary (citable) accession number: Q8WVP7
Secondary accession number(s): A4D242
, Q8N3E3, Q96QZ5, Q9H5N0, Q9HAG9, Q9UDN5, Q9Y6U2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: March 1, 2002
Last modified: April 25, 2018
This is version 113 of the entry and version 1 of the sequence. See complete history.
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.

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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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