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Q9NUN5

- LMBD1_HUMAN

UniProt

Q9NUN5 - LMBD1_HUMAN

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Protein
Probable lysosomal cobalamin transporter
Gene
LMBRD1, C6orf209, NESI, BM-021, CD001, MSTP044
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1010Extracellular Reviewed prediction
Transmembranei11 – 3121Helical; Name=1; Reviewed prediction
Add
BLAST
Topological domaini32 – 5019Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei51 – 7121Helical; Name=2; Reviewed prediction
Add
BLAST
Topological domaini72 – 10029Extracellular Reviewed prediction
Add
BLAST
Transmembranei101 – 12121Helical; Name=3; Reviewed prediction
Add
BLAST
Topological domaini122 – 14423Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei145 – 16521Helical; Name=4; Reviewed prediction
Add
BLAST
Topological domaini166 – 18823Extracellular Reviewed prediction
Add
BLAST
Transmembranei189 – 20921Helical; Name=5; Reviewed prediction
Add
BLAST
Topological domaini210 – 30596Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei306 – 32621Helical; Name=6; Reviewed prediction
Add
BLAST
Topological domaini327 – 36438Extracellular Reviewed prediction
Add
BLAST
Transmembranei365 – 38521Helical; Name=7; Reviewed prediction
Add
BLAST
Topological domaini386 – 40823Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei409 – 42921Helical; Name=8; Reviewed prediction
Add
BLAST
Topological domaini430 – 48657Extracellular Reviewed prediction
Add
BLAST
Transmembranei487 – 50721Helical; Name=9; Reviewed prediction
Add
BLAST
Topological domaini508 – 54033Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 transporter
PRO_0000260515Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi78 – 781N-linked (GlcNAc...) Reviewed prediction
Glycosylationi88 – 881N-linked (GlcNAc...) Reviewed prediction
Glycosylationi170 – 1701N-linked (GlcNAc...) Reviewed prediction
Modified residuei238 – 2381Phosphothreonine By similarity
Glycosylationi347 – 3471N-linked (GlcNAc...) Reviewed prediction
Glycosylationi448 – 4481N-linked (GlcNAc...) Reviewed prediction
Glycosylationi457 – 4571N-linked (GlcNAc...) Inferred
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.

Family & Domainsi

Sequence similaritiesi

Belongs to the LIMR family. LMBRD1 subfamily.

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.
VSP_036539Add
BLAST
Alternative sequencei1 – 7373Missing in isoform 3.
VSP_021629Add
BLAST
Alternative sequencei362 – 39231VFPLD…IGIWF → EFEILAYGSFGLDYIKSEEV EPGPKHSFFSA in isoform 2 and isoform 4.
VSP_021630Add
BLAST
Alternative sequencei393 – 540148Missing in isoform 2 and isoform 4.
VSP_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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 106 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

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