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Q8WVP7

- LMBR1_HUMAN

UniProt

Q8WVP7 - LMBR1_HUMAN

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Protein

Limb region 1 protein homolog

Gene

LMBR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Putative membrane receptor.

GO - Biological processi

  1. embryonic digit morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Receptor

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
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:13243. LMBR1.

Subcellular locationi

Membrane By similarity; Multi-pass membrane protein By similarity

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Note: 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 (PubMed:12837695).1 Publication
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 diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Syndactyly 4 (SDTY4) [MIM:186200]: A 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.1 Publication
Note: 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.

Organism-specific databases

MIMi174500. phenotype.
186200. phenotype.
200500. phenotype.
Orphaneti295118. 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.
PharmGKBiPA25945.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 490490Limb region 1 protein homologPRO_0000053906Add
BLAST

Proteomic databases

MaxQBiQ8WVP7.
PaxDbiQ8WVP7.
PRIDEiQ8WVP7.

PTM databases

PhosphoSiteiQ8WVP7.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ8WVP7.
CleanExiHS_LMBR1.
ExpressionAtlasiQ8WVP7. baseline and differential.
GenevestigatoriQ8WVP7.

Organism-specific databases

HPAiHPA016592.

Interactioni

Protein-protein interaction databases

BioGridi122137. 14 interactions.
IntActiQ8WVP7. 1 interaction.
STRINGi9606.ENSP00000326604.

Structurei

3D structure databases

ProteinModelPortaliQ8WVP7.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919ExtracellularSequence AnalysisAdd
BLAST
Topological domaini41 – 6222CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini84 – 11027ExtracellularSequence AnalysisAdd
BLAST
Topological domaini132 – 15120CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini173 – 18715ExtracellularSequence AnalysisAdd
BLAST
Topological domaini209 – 29183CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini313 – 33927ExtracellularSequence AnalysisAdd
BLAST
Topological domaini361 – 38323CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini405 – 42622ExtracellularSequence AnalysisAdd
BLAST
Topological domaini448 – 49043CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei20 – 4021HelicalSequence AnalysisAdd
BLAST
Transmembranei63 – 8321HelicalSequence AnalysisAdd
BLAST
Transmembranei111 – 13121HelicalSequence AnalysisAdd
BLAST
Transmembranei152 – 17221HelicalSequence AnalysisAdd
BLAST
Transmembranei188 – 20821HelicalSequence AnalysisAdd
BLAST
Transmembranei292 – 31221HelicalSequence AnalysisAdd
BLAST
Transmembranei340 – 36021HelicalSequence AnalysisAdd
BLAST
Transmembranei384 – 40421HelicalSequence AnalysisAdd
BLAST
Transmembranei427 – 44721HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili250 – 28738Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the LIMR family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG246746.
GeneTreeiENSGT00390000007809.
HOVERGENiHBG072983.
InParanoidiQ8WVP7.
OMAiIREQNFH.
OrthoDBiEOG7M0NRC.
PhylomeDBiQ8WVP7.
TreeFamiTF313485.

Family and domain databases

InterProiIPR008075. Lipcalin_1_rcpt.
IPR006876. LMBR1-like_membr_prot.
[Graphical view]
PfamiPF04791. LMBR1. 1 hit.
[Graphical view]
PRINTSiPR01692. LIPOCALINIMR.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8WVP7) [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 AAD43188.1 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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti41 – 411R → G in AAK94061. 1 PublicationCurated
Sequence conflicti76 – 761L → S in AAK94061. 1 PublicationCurated
Sequence conflicti96 – 961Y → C in CAD39056. (PubMed:17974005)Curated
Sequence conflicti349 – 3491A → V in AAK94061. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti228 – 2281T → A.
Corresponds to variant rs6957768 [ dbSNP | Ensembl ].
VAR_031900

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei205 – 466262Missing in isoform 2. 1 PublicationVSP_016888Add
BLAST
Alternative sequencei252 – 2532NG → NVGMLCAGNPEVATGRQVPE EQAGQLLLGKWIQEGGDMIA NPR in isoform 3. 1 PublicationVSP_017441

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
UniGeneiHs.209989.

Genome annotation databases

EnsembliENST00000353442; ENSP00000326604; ENSG00000105983. [Q8WVP7-1]
GeneIDi64327.
KEGGihsa:64327.
UCSCiuc003wmw.4. human. [Q8WVP7-1]
uc010lqn.3. human. [Q8WVP7-3]

Polymorphism databases

DMDMi74730878.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS5945.1. [Q8WVP7-1 ]
RefSeqi NP_071903.2. NM_022458.3. [Q8WVP7-1 ]
UniGenei Hs.209989.

3D structure databases

ProteinModelPortali Q8WVP7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122137. 14 interactions.
IntActi Q8WVP7. 1 interaction.
STRINGi 9606.ENSP00000326604.

PTM databases

PhosphoSitei Q8WVP7.

Polymorphism databases

DMDMi 74730878.

Proteomic databases

MaxQBi Q8WVP7.
PaxDbi Q8WVP7.
PRIDEi Q8WVP7.

Protocols and materials databases

DNASUi 64327.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000353442 ; ENSP00000326604 ; ENSG00000105983 . [Q8WVP7-1 ]
GeneIDi 64327.
KEGGi hsa:64327.
UCSCi uc003wmw.4. human. [Q8WVP7-1 ]
uc010lqn.3. human. [Q8WVP7-3 ]

Organism-specific databases

CTDi 64327.
GeneCardsi GC07M156468.
HGNCi HGNC:13243. LMBR1.
HPAi HPA016592.
MIMi 174500. phenotype.
186200. phenotype.
200500. phenotype.
605522. gene.
neXtProti NX_Q8WVP7.
Orphaneti 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.
PharmGKBi PA25945.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG246746.
GeneTreei ENSGT00390000007809.
HOVERGENi HBG072983.
InParanoidi Q8WVP7.
OMAi IREQNFH.
OrthoDBi EOG7M0NRC.
PhylomeDBi Q8WVP7.
TreeFami TF313485.

Miscellaneous databases

ChiTaRSi LMBR1. human.
GeneWikii LMBR1.
GenomeRNAii 64327.
NextBioi 66253.
PROi Q8WVP7.
SOURCEi Search...

Gene expression databases

Bgeei Q8WVP7.
CleanExi HS_LMBR1.
ExpressionAtlasi Q8WVP7. baseline and differential.
Genevestigatori Q8WVP7.

Family and domain databases

InterProi IPR008075. Lipcalin_1_rcpt.
IPR006876. LMBR1-like_membr_prot.
[Graphical view ]
Pfami PF04791. LMBR1. 1 hit.
[Graphical view ]
PRINTSi PR01692. LIPOCALINIMR.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and expression analysis of leukemia cell line K562 differentiation-related gene DIF14."
    Wang Z., Huang G.-S.
    Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Leukemia.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 356-490 (ISOFORM 1).
    Tissue: Embryo and Hepatoma.
  3. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-490 (ISOFORM 3).
    Tissue: Amygdala.
  8. Cited for: TISSUE SPECIFICITY.
  9. Cited for: INVOLVEMENT IN ACHEIROPODY.
  10. "A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly."
    Lettice L.A., Heaney S.J.H., Purdie L.A., Li L., de Beer P., Oostra B.A., Goode D., Elgar G., Hill R.E., de Graaff E.
    Hum. Mol. Genet. 12:1725-1735(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: ASSOCIATION WITH PPD2.
  11. "Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer."
    Sun M., Ma F., Zeng X., Liu Q., Zhao X.-L., Wu F.-X., Wu G.-P., Zhang Z.-F., Gu B., Zhao Y.-F., Tian S.-H., Lin B., Kong X.-Y., Zhang X.-L., Yang W., Lo W.H.-Y., Zhang X.
    J. Med. Genet. 45:589-595(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SDTY4.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiLMBR1_HUMAN
AccessioniPrimary (citable) accession number: Q8WVP7
Secondary accession number(s): A4D242
, Q8N3E3, Q96QZ5, Q9H5N0, Q9HAG9, Q9UDN5, Q9Y6U2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: March 1, 2002
Last modified: October 29, 2014
This is version 92 of the entry and version 1 of the sequence. [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

External Data

Dasty 3