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Q9NUN5

- LMBD1_HUMAN

UniProt

Q9NUN5 - LMBD1_HUMAN

Protein

Probable lysosomal cobalamin transporter

Gene

LMBRD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV).2 Publications

    GO - Molecular functioni

    1. cobalamin binding Source: UniProtKB-KW

    GO - Biological processi

    1. cobalamin metabolic process Source: Reactome
    2. small molecule metabolic process Source: Reactome
    3. transport Source: UniProtKB-KW
    4. viral process Source: UniProtKB-KW
    5. vitamin metabolic process Source: Reactome
    6. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Biological processi

    Host-virus interaction, Transport

    Keywords - Ligandi

    Cobalamin, Cobalt

    Enzyme and pathway databases

    ReactomeiREACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.

    Protein family/group databases

    TCDBi9.A.54.1.1. the lysosomal cobalamin (b12) transporter (l-b12t) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable lysosomal cobalamin transporter
    Alternative name(s):
    HDAg-L-interacting protein NESI
    LMBR1 domain-containing protein 1
    Nuclear export signal-interacting protein
    Gene namesi
    Name:LMBRD1
    Synonyms:C6orf209, NESI
    ORF Names:BM-021, CD001, MSTP044
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:23038. LMBRD1.

    Subcellular locationi

    Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. lysosomal membrane Source: Reactome
    3. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Methylmalonic aciduria and homocystinuria type cblF (MMAHCF) [MIM:277380]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi78 – 781N → Q: Does not affect glycosylation status; when associated with Q-88. 1 Publication
    Mutagenesisi88 – 881N → Q: Does not affect glycosylation status; when associated with Q-78. 1 Publication
    Mutagenesisi448 – 4481N → Q: Affects glycosylation status; when associated with Q-457. 1 Publication
    Mutagenesisi457 – 4571N → Q: Affects glycosylation status. Affects glycosylation status; when associated with Q-448. 1 Publication

    Organism-specific databases

    MIMi277380. phenotype.
    Orphaneti79284. Methylmalonic acidemia with homocystinuria, type cblF.
    PharmGKBiPA134948847.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 540540Probable lysosomal cobalamin transporterPRO_0000260515Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi78 – 781N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi88 – 881N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi170 – 1701N-linked (GlcNAc...)Sequence Analysis
    Modified residuei238 – 2381PhosphothreonineBy similarity
    Glycosylationi347 – 3471N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi448 – 4481N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi457 – 4571N-linked (GlcNAc...)1 Publication
    Modified residuei528 – 5281Phosphoserine2 Publications
    Modified residuei531 – 5311Phosphoserine2 Publications

    Post-translational modificationi

    N-glycosylated.1 Publication

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9NUN5.
    PaxDbiQ9NUN5.
    PRIDEiQ9NUN5.

    PTM databases

    PhosphoSiteiQ9NUN5.

    Expressioni

    Tissue specificityi

    Isoform 3 is expressed in liver.1 Publication

    Gene expression databases

    BgeeiQ9NUN5.
    CleanExiHS_LMBRD1.
    GenevestigatoriQ9NUN5.

    Organism-specific databases

    HPAiHPA019547.

    Interactioni

    Subunit structurei

    Isoform 3 interacts with Hepatitis delta virus NES(HDAg-L).1 Publication

    Protein-protein interaction databases

    BioGridi120902. 2 interactions.
    IntActiQ9NUN5. 1 interaction.
    STRINGi9606.ENSP00000359609.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NUN5.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1010ExtracellularSequence Analysis
    Topological domaini32 – 5019CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini72 – 10029ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini122 – 14423CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini166 – 18823ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini210 – 30596CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini327 – 36438ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini386 – 40823CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini430 – 48657ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini508 – 54033CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei11 – 3121Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei51 – 7121Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei101 – 12121Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei145 – 16521Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei189 – 20921Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei306 – 32621Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei365 – 38521Helical; Name=7Sequence AnalysisAdd
    BLAST
    Transmembranei409 – 42921Helical; Name=8Sequence AnalysisAdd
    BLAST
    Transmembranei487 – 50721Helical; Name=9Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the LIMR family. LMBRD1 subfamily.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG87911.
    HOVERGENiHBG059142.
    KOiK14617.
    OMAiCTQIKTA.
    OrthoDBiEOG7BKCTF.
    PhylomeDBiQ9NUN5.
    TreeFamiTF329170.

    Family and domain databases

    InterProiIPR006876. LMBR1-like_membr_prot.
    [Graphical view]
    PfamiPF04791. LMBR1. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NUN5-1) [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

    MATSGAASAE LVIGWCIFGL LLLAILAFCW IYVRKYQSRR ESEVVSTITA    50
    IFSLAIALIT SALLPVDIFL VSYMKNQNGT FKDWANANVS RQIEDTVLYG 100
    YYTLYSVILF CVFFWIPFVY FYYEEKDDDD TSKCTQIKTA LKYTLGFVVI 150
    CALLLLVGAF VPLNVPNNKN STEWEKVKSL FEELGSSHGL AALSFSISSL 200
    TLIGMLAAIT YTAYGMSALP LNLIKGTRSA AYERLENTED IEEVEQHIQT 250
    IKSKSKDGRP LPARDKRALK QFEERLRTLK KRERHLEFIE NSWWTKFCGA 300
    LRPLKIVWGI FFILVALLFV ISLFLSNLDK ALHSAGIDSG FIIFGANLSN 350
    PLNMLLPLLQ TVFPLDYILI TIIIMYFIFT SMAGIRNIGI WFFWIRLYKI 400
    RRGRTRPQAL LFLCMILLLI VLHTSYMIYS LAPQYVMYGS QNYLIETNIT 450
    SDNHKGNSTL SVPKRCDADA PEDQCTVTRT YLFLHKFWFF SAAYYFGNWA 500
    FLGVFLIGLI VSCCKGKKSV IEGVDEDSDI SDDEPSVYSA 540
    Length:540
    Mass (Da):61,389
    Last modified:October 1, 2000 - v1
    Checksum:iCC7578B0F5FD7BA6
    GO
    Isoform 2 (identifier: Q9NUN5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         362-392: VFPLDYILITIIIMYFIFTSMAGIRNIGIWF → EFEILAYGSFGLDYIKSEEVEPGPKHSFFSA
         393-540: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:392
    Mass (Da):44,211
    Checksum:i6DE93B0127AC0BE5
    GO
    Isoform 3 (identifier: Q9NUN5-3) [UniParc]FASTAAdd to Basket

    Also known as: NESI

    The sequence of this isoform differs from the canonical sequence as follows:
         1-73: Missing.

    Show »
    Length:467
    Mass (Da):53,435
    Checksum:i51C91051CD071AC5
    GO
    Isoform 4 (identifier: Q9NUN5-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-204: Missing.
         362-392: VFPLDYILITIIIMYFIFTSMAGIRNIGIWF → EFEILAYGSFGLDYIKSEEVEPGPKHSFFSA
         393-540: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:188
    Mass (Da):21,394
    Checksum:i028B19ED4912A09C
    GO

    Sequence cautioni

    The sequence AAK26247.1 differs from that shown. Reason: Frameshift at position 137.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti144 – 1441T → A.
    Corresponds to variant rs12214456 [ dbSNP | Ensembl ].
    VAR_029047
    Natural varianti395 – 3951I → V.1 Publication
    Corresponds to variant rs17854411 [ dbSNP | Ensembl ].
    VAR_029048
    Natural varianti469 – 4691D → E.
    Corresponds to variant rs9354880 [ dbSNP | Ensembl ].
    VAR_029049

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 204204Missing in isoform 4. 1 PublicationVSP_036539Add
    BLAST
    Alternative sequencei1 – 7373Missing in isoform 3. 4 PublicationsVSP_021629Add
    BLAST
    Alternative sequencei362 – 39231VFPLD…IGIWF → EFEILAYGSFGLDYIKSEEV EPGPKHSFFSA in isoform 2 and isoform 4. 1 PublicationVSP_021630Add
    BLAST
    Alternative sequencei393 – 540148Missing in isoform 2 and isoform 4. 1 PublicationVSP_036540Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY136817 mRNA. Translation: AAN11301.1.
    AF113224 mRNA. Translation: AAG39295.1.
    AF208863 mRNA. Translation: AAF64277.1.
    AK002102 mRNA. Translation: BAA92087.1.
    AK290069 mRNA. Translation: BAF82758.1.
    AL583831, AL358133, AL590702 Genomic DNA. Translation: CAH74081.1.
    AL583831, AL358133, AL590702 Genomic DNA. Translation: CAH74083.1.
    AL358133, AL583831, AL590702 Genomic DNA. Translation: CAI16835.1.
    AL358133, AL583831, AL590702 Genomic DNA. Translation: CAI16836.1.
    AL590702, AL358133, AL583831 Genomic DNA. Translation: CAI17314.1.
    AL590702, AL358133, AL583831 Genomic DNA. Translation: CAI17316.1.
    CH471051 Genomic DNA. Translation: EAW48832.1.
    CH471051 Genomic DNA. Translation: EAW48833.1.
    CH471051 Genomic DNA. Translation: EAW48835.1.
    BC010360 mRNA. Translation: AAH10360.1.
    BC047073 mRNA. Translation: AAH47073.1.
    AF211480 mRNA. Translation: AAK26247.1. Frameshift.
    CCDSiCCDS4969.1. [Q9NUN5-1]
    RefSeqiNP_060838.3. NM_018368.3. [Q9NUN5-1]
    UniGeneiHs.271643.
    Hs.736005.

    Genome annotation databases

    EnsembliENST00000370570; ENSP00000359602; ENSG00000168216. [Q9NUN5-3]
    ENST00000370577; ENSP00000359609; ENSG00000168216. [Q9NUN5-1]
    ENST00000472827; ENSP00000433385; ENSG00000168216. [Q9NUN5-2]
    GeneIDi55788.
    KEGGihsa:55788.
    UCSCiuc003pez.3. human. [Q9NUN5-1]

    Polymorphism databases

    DMDMi74752981.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY136817 mRNA. Translation: AAN11301.1 .
    AF113224 mRNA. Translation: AAG39295.1 .
    AF208863 mRNA. Translation: AAF64277.1 .
    AK002102 mRNA. Translation: BAA92087.1 .
    AK290069 mRNA. Translation: BAF82758.1 .
    AL583831 , AL358133 , AL590702 Genomic DNA. Translation: CAH74081.1 .
    AL583831 , AL358133 , AL590702 Genomic DNA. Translation: CAH74083.1 .
    AL358133 , AL583831 , AL590702 Genomic DNA. Translation: CAI16835.1 .
    AL358133 , AL583831 , AL590702 Genomic DNA. Translation: CAI16836.1 .
    AL590702 , AL358133 , AL583831 Genomic DNA. Translation: CAI17314.1 .
    AL590702 , AL358133 , AL583831 Genomic DNA. Translation: CAI17316.1 .
    CH471051 Genomic DNA. Translation: EAW48832.1 .
    CH471051 Genomic DNA. Translation: EAW48833.1 .
    CH471051 Genomic DNA. Translation: EAW48835.1 .
    BC010360 mRNA. Translation: AAH10360.1 .
    BC047073 mRNA. Translation: AAH47073.1 .
    AF211480 mRNA. Translation: AAK26247.1 . Frameshift.
    CCDSi CCDS4969.1. [Q9NUN5-1 ]
    RefSeqi NP_060838.3. NM_018368.3. [Q9NUN5-1 ]
    UniGenei Hs.271643.
    Hs.736005.

    3D structure databases

    ProteinModelPortali Q9NUN5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120902. 2 interactions.
    IntActi Q9NUN5. 1 interaction.
    STRINGi 9606.ENSP00000359609.

    Protein family/group databases

    TCDBi 9.A.54.1.1. the lysosomal cobalamin (b12) transporter (l-b12t) family.

    PTM databases

    PhosphoSitei Q9NUN5.

    Polymorphism databases

    DMDMi 74752981.

    Proteomic databases

    MaxQBi Q9NUN5.
    PaxDbi Q9NUN5.
    PRIDEi Q9NUN5.

    Protocols and materials databases

    DNASUi 55788.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370570 ; ENSP00000359602 ; ENSG00000168216 . [Q9NUN5-3 ]
    ENST00000370577 ; ENSP00000359609 ; ENSG00000168216 . [Q9NUN5-1 ]
    ENST00000472827 ; ENSP00000433385 ; ENSG00000168216 . [Q9NUN5-2 ]
    GeneIDi 55788.
    KEGGi hsa:55788.
    UCSCi uc003pez.3. human. [Q9NUN5-1 ]

    Organism-specific databases

    CTDi 55788.
    GeneCardsi GC06M070385.
    GeneReviewsi LMBRD1.
    HGNCi HGNC:23038. LMBRD1.
    HPAi HPA019547.
    MIMi 277380. phenotype.
    612625. gene.
    neXtProti NX_Q9NUN5.
    Orphaneti 79284. Methylmalonic acidemia with homocystinuria, type cblF.
    PharmGKBi PA134948847.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG87911.
    HOVERGENi HBG059142.
    KOi K14617.
    OMAi CTQIKTA.
    OrthoDBi EOG7BKCTF.
    PhylomeDBi Q9NUN5.
    TreeFami TF329170.

    Enzyme and pathway databases

    Reactomei REACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.

    Miscellaneous databases

    ChiTaRSi LMBRD1. human.
    GeneWikii LMBRD1.
    GenomeRNAii 55788.
    NextBioi 60892.
    PROi Q9NUN5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NUN5.
    CleanExi HS_LMBRD1.
    Genevestigatori Q9NUN5.

    Family and domain databases

    InterProi IPR006876. LMBR1-like_membr_prot.
    [Graphical view ]
    Pfami PF04791. LMBR1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus."
      Wang Y.-H., Chang S.C., Huang C., Li Y.-P., Lee C.-H., Chang M.-F.
      J. Virol. 79:8113-8120(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH HDAG-L.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Heart.
    3. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
      Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
      , Gu J., Chen S.-J., Chen Z.
      Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Bone marrow.
    4. "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] (ISOFORMS 1 AND 3).
      Tissue: Placenta and Substantia nigra.
    5. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORMS 1 AND 4), VARIANT VAL-395.
      Tissue: Brain.
    8. "A novel gene expressed in human pheochromocytoma."
      Li N., Song H., Peng Y., Xiao H., Han Z., Chen Z.
      Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 130-540 (ISOFORMS 1/3).
      Tissue: Pheochromocytoma.
    9. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-528 AND SER-531, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: INVOLVEMENT IN MMAHCF, FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY, GLYCOSYLATION, MUTAGENESIS OF ASN-78; ASN-88; ASN-448 AND ASN-457.
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-528 AND SER-531, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiLMBD1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NUN5
    Secondary accession number(s): A8K204
    , E1P531, Q5VUN6, Q86Y70, Q96FW4, Q9BY56, Q9NZD6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2006
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 107 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 6
      Human chromosome 6: 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