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Q8WVP7

- LMBR1_HUMAN

UniProt

Q8WVP7 - LMBR1_HUMAN

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
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
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    Functioni

    Putative membrane receptor.

    GO - Biological processi

    1. embryonic digit morphogenesis Source: Ensembl

    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

    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

    ArrayExpressiQ8WVP7.
    BgeeiQ8WVP7.
    CleanExiHS_LMBR1.
    GenevestigatoriQ8WVP7.

    Organism-specific databases

    HPAiHPA016592.

    Interactioni

    Protein-protein interaction databases

    BioGridi122137. 1 interaction.
    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.
    HOVERGENiHBG072983.
    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: Q8WVP7-1) [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

    MEGQDEVSAR EQHFHSQVRE STICFLLFAI LYVVSYFIIT RYKRKSDEQE    50
    DEDAIVNRIS LFLSTFTLAV SAGAVLLLPF SIISNEILLS FPQNYYIQWL 100
    NGSLIHGLWN LASLFSNLCL FVLMPFAFFF LESEGFAGLK KGIRARILET 150
    LVMLLLLALL ILGIVWVASA LIDNDAASME SLYDLWEFYL PYLYSCISLM 200
    GCLLLLLCTP VGLSRMFTVM GQLLVKPTIL EDLDEQIYII TLEEEALQRR 250
    LNGLSSSVEY NIMELEQELE NVKTLKTKLE RRKKASAWER NLVYPAVMVL 300
    LLIETSISVL LVACNILCLL VDETAMPKGT RGPGIGNASL STFGFVGAAL 350
    EIILIFYLMV SSVVGFYSLR FFGNFTPKKD DTTMTKIIGN CVSILVLSSA 400
    LPVMSRTLGI TRFDLLGDFG RFNWLGNFYI VLSYNLLFAI VTTLCLVRKF 450
    TSAVREELFK ALGLHKLHLP NTSRDSETAK PSVNGHQKAL 490
    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. 1 interaction.
    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 GC07M156473.
    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.
    HOVERGENi HBG072983.
    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

    ArrayExpressi Q8WVP7.
    Bgeei Q8WVP7.
    CleanExi HS_LMBR1.
    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

    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 1, 2014
    This is version 91 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