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Entry version 151 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Probable lysosomal cobalamin transporter

Gene

LMBRD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors.1 Publication
(Microbial infection) Isoform 3: May play a role in the assembly of hepatitis delta virus (HDV).1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processHost-virus interaction, Transport
LigandCobalamin, Cobalt

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359458 Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LMBRD1
Synonyms:C6orf209, NESI
ORF Names:BM-021, CD001, MSTP044
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23038 LMBRD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612625 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NUN5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 10ExtracellularSequence analysis10
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei11 – 31Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini32 – 50CytoplasmicSequence analysisAdd BLAST19
Transmembranei51 – 71Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini72 – 100ExtracellularSequence analysisAdd BLAST29
Transmembranei101 – 121Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini122 – 144CytoplasmicSequence analysisAdd BLAST23
Transmembranei145 – 165Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini166 – 188ExtracellularSequence analysisAdd BLAST23
Transmembranei189 – 209Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini210 – 305CytoplasmicSequence analysisAdd BLAST96
Transmembranei306 – 326Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini327 – 364ExtracellularSequence analysisAdd BLAST38
Transmembranei365 – 385Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini386 – 408CytoplasmicSequence analysisAdd BLAST23
Transmembranei409 – 429Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini430 – 486ExtracellularSequence analysisAdd BLAST57
Transmembranei487 – 507Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini508 – 540CytoplasmicSequence analysisAdd BLAST33

Keywords - Cellular componenti

Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Methylmalonic aciduria and homocystinuria, cblF type (MAHCF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive 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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi78N → Q: Does not affect glycosylation status; when associated with Q-88. 1 Publication1
Mutagenesisi88N → Q: Does not affect glycosylation status; when associated with Q-78. 1 Publication1
Mutagenesisi448N → Q: Affects glycosylation status; when associated with Q-457. 1 Publication1
Mutagenesisi457N → Q: Affects glycosylation status. Affects glycosylation status; when associated with Q-448. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
55788

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
LMBRD1

MalaCards human disease database

More...
MalaCardsi
LMBRD1
MIMi277380 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000168216

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79284 Methylmalonic acidemia with homocystinuria type cblF

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134948847

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NUN5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LMBRD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74752981

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002605151 – 540Probable lysosomal cobalamin transporterAdd BLAST540

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi78N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi88N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi170N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei238PhosphothreonineBy similarity1
Glycosylationi347N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi448N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi457N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei528PhosphoserineCombined sources1
Modified residuei531PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NUN5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NUN5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NUN5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NUN5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NUN5

PeptideAtlas

More...
PeptideAtlasi
Q9NUN5

PRoteomics IDEntifications database

More...
PRIDEi
Q9NUN5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
82696 [Q9NUN5-1]
82697 [Q9NUN5-2]
82698 [Q9NUN5-3]
82699 [Q9NUN5-4]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1628

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NUN5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NUN5

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9NUN5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform 3 is expressed in liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168216 Expressed in 231 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NUN5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NUN5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA019547

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

(Microbial infection) Isoform 3:

Interacts with hepatitis delta virus NES (HDAg-L).

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120902, 3 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NUN5, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000359609

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the LIMR family. LMBRD1 subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFHV Eukaryota
ENOG410XPKG LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002581

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NUN5

KEGG Orthology (KO)

More...
KOi
K14617

Identification of Orthologs from Complete Genome Data

More...
OMAi
IGIRFLW

Database of Orthologous Groups

More...
OrthoDBi
744771at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NUN5

TreeFam database of animal gene trees

More...
TreeFami
TF329170

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006876 LMBR1-like_membr_prot

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04791 LMBR1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 15 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NUN5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MATSGAASAE LVIGWCIFGL LLLAILAFCW IYVRKYQSRR ESEVVSTITA
60 70 80 90 100
IFSLAIALIT SALLPVDIFL VSYMKNQNGT FKDWANANVS RQIEDTVLYG
110 120 130 140 150
YYTLYSVILF CVFFWIPFVY FYYEEKDDDD TSKCTQIKTA LKYTLGFVVI
160 170 180 190 200
CALLLLVGAF VPLNVPNNKN STEWEKVKSL FEELGSSHGL AALSFSISSL
210 220 230 240 250
TLIGMLAAIT YTAYGMSALP LNLIKGTRSA AYERLENTED IEEVEQHIQT
260 270 280 290 300
IKSKSKDGRP LPARDKRALK QFEERLRTLK KRERHLEFIE NSWWTKFCGA
310 320 330 340 350
LRPLKIVWGI FFILVALLFV ISLFLSNLDK ALHSAGIDSG FIIFGANLSN
360 370 380 390 400
PLNMLLPLLQ TVFPLDYILI TIIIMYFIFT SMAGIRNIGI WFFWIRLYKI
410 420 430 440 450
RRGRTRPQAL LFLCMILLLI VLHTSYMIYS LAPQYVMYGS QNYLIETNIT
460 470 480 490 500
SDNHKGNSTL SVPKRCDADA PEDQCTVTRT YLFLHKFWFF SAAYYFGNWA
510 520 530 540
FLGVFLIGLI VSCCKGKKSV IEGVDEDSDI SDDEPSVYSA
Length:540
Mass (Da):61,389
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IRN0A0A3B3IRN0_HUMAN
Probable lysosomal cobalamin transp...
LMBRD1
179Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRS7A0A3B3IRS7_HUMAN
Probable lysosomal cobalamin transp...
LMBRD1
247Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IT31A0A3B3IT31_HUMAN
Probable lysosomal cobalamin transp...
LMBRD1
562Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITM4A0A3B3ITM4_HUMAN
Probable lysosomal cobalamin transp...
LMBRD1
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITP2A0A3B3ITP2_HUMAN
Probable lysosomal cobalamin transp...
LMBRD1
341Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IU68A0A3B3IU68_HUMAN
Probable lysosomal cobalamin transp...
LMBRD1
306Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IU91A0A3B3IU91_HUMAN
Probable lysosomal cobalamin transp...
LMBRD1
174Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3F2YP66A0A3F2YP66_HUMAN
Probable lysosomal cobalamin transp...
LMBRD1
317Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRL1A0A3B3IRL1_HUMAN
Probable lysosomal cobalamin transp...
LMBRD1
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IS10A0A3B3IS10_HUMAN
Probable lysosomal cobalamin transp...
LMBRD1
29Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAK26247 differs from that shown. Reason: Frameshift.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_029047144T → A. Corresponds to variant dbSNP:rs12214456EnsemblClinVar.1
Natural variantiVAR_029048395I → V1 PublicationCorresponds to variant dbSNP:rs17854411Ensembl.1
Natural variantiVAR_029049469D → E. Corresponds to variant dbSNP:rs12648EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0365391 – 204Missing in isoform 4. 1 PublicationAdd BLAST204
Alternative sequenceiVSP_0216291 – 73Missing in isoform 3. 4 PublicationsAdd BLAST73
Alternative sequenceiVSP_021630362 – 392VFPLD…IGIWF → EFEILAYGSFGLDYIKSEEV EPGPKHSFFSA in isoform 2 and isoform 4. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_036540393 – 540Missing in isoform 2 and isoform 4. 1 PublicationAdd BLAST148

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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
AL358133 Genomic DNA No translation available.
AL583831 Genomic DNA No translation available.
AL590702 Genomic DNA No translation available.
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4969.1 [Q9NUN5-1]
CCDS87415.1 [Q9NUN5-3]

NCBI Reference Sequences

More...
RefSeqi
NP_060838.3, NM_018368.3 [Q9NUN5-1]
XP_011534243.1, XM_011535941.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000370570; ENSP00000359602; ENSG00000168216 [Q9NUN5-3]
ENST00000647964; ENSP00000496784; ENSG00000168216 [Q9NUN5-3]
ENST00000648168; ENSP00000498178; ENSG00000168216 [Q9NUN5-3]
ENST00000648394; ENSP00000497302; ENSG00000168216 [Q9NUN5-3]
ENST00000648743; ENSP00000497135; ENSG00000168216 [Q9NUN5-3]
ENST00000649028; ENSP00000498034; ENSG00000168216 [Q9NUN5-3]
ENST00000649679; ENSP00000497387; ENSG00000168216 [Q9NUN5-3]
ENST00000649918; ENSP00000497487; ENSG00000168216 [Q9NUN5-3]
ENST00000649934; ENSP00000497690; ENSG00000168216 [Q9NUN5-1]
ENST00000650035; ENSP00000497703; ENSG00000168216 [Q9NUN5-3]
ENST00000650107; ENSP00000497124; ENSG00000168216 [Q9NUN5-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55788

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55788

UCSC genome browser

More...
UCSCi
uc003pez.4 human [Q9NUN5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
AL358133 Genomic DNA No translation available.
AL583831 Genomic DNA No translation available.
AL590702 Genomic DNA No translation available.
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]
CCDS87415.1 [Q9NUN5-3]
RefSeqiNP_060838.3, NM_018368.3 [Q9NUN5-1]
XP_011534243.1, XM_011535941.1

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi120902, 3 interactors
IntActiQ9NUN5, 5 interactors
STRINGi9606.ENSP00000359609

Protein family/group databases

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

PTM databases

GlyConnecti1628
iPTMnetiQ9NUN5
PhosphoSitePlusiQ9NUN5
SwissPalmiQ9NUN5

Polymorphism and mutation databases

BioMutaiLMBRD1
DMDMi74752981

Proteomic databases

EPDiQ9NUN5
jPOSTiQ9NUN5
MassIVEiQ9NUN5
MaxQBiQ9NUN5
PaxDbiQ9NUN5
PeptideAtlasiQ9NUN5
PRIDEiQ9NUN5
ProteomicsDBi82696 [Q9NUN5-1]
82697 [Q9NUN5-2]
82698 [Q9NUN5-3]
82699 [Q9NUN5-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55788

Genome annotation databases

EnsembliENST00000370570; ENSP00000359602; ENSG00000168216 [Q9NUN5-3]
ENST00000647964; ENSP00000496784; ENSG00000168216 [Q9NUN5-3]
ENST00000648168; ENSP00000498178; ENSG00000168216 [Q9NUN5-3]
ENST00000648394; ENSP00000497302; ENSG00000168216 [Q9NUN5-3]
ENST00000648743; ENSP00000497135; ENSG00000168216 [Q9NUN5-3]
ENST00000649028; ENSP00000498034; ENSG00000168216 [Q9NUN5-3]
ENST00000649679; ENSP00000497387; ENSG00000168216 [Q9NUN5-3]
ENST00000649918; ENSP00000497487; ENSG00000168216 [Q9NUN5-3]
ENST00000649934; ENSP00000497690; ENSG00000168216 [Q9NUN5-1]
ENST00000650035; ENSP00000497703; ENSG00000168216 [Q9NUN5-3]
ENST00000650107; ENSP00000497124; ENSG00000168216 [Q9NUN5-3]
GeneIDi55788
KEGGihsa:55788
UCSCiuc003pez.4 human [Q9NUN5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55788
DisGeNETi55788

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LMBRD1
GeneReviewsiLMBRD1
HGNCiHGNC:23038 LMBRD1
HPAiHPA019547
MalaCardsiLMBRD1
MIMi277380 phenotype
612625 gene
neXtProtiNX_Q9NUN5
OpenTargetsiENSG00000168216
Orphaneti79284 Methylmalonic acidemia with homocystinuria type cblF
PharmGKBiPA134948847

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFHV Eukaryota
ENOG410XPKG LUCA
GeneTreeiENSGT00390000002581
InParanoidiQ9NUN5
KOiK14617
OMAiIGIRFLW
OrthoDBi744771at2759
PhylomeDBiQ9NUN5
TreeFamiTF329170

Enzyme and pathway databases

ReactomeiR-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359458 Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
LMBRD1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
LMBRD1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
55788
PharosiQ9NUN5

Protein Ontology

More...
PROi
PR:Q9NUN5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168216 Expressed in 231 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ9NUN5 baseline and differential
GenevisibleiQ9NUN5 HS

Family and domain databases

InterProiView protein in InterPro
IPR006876 LMBR1-like_membr_prot
PfamiView protein in Pfam
PF04791 LMBR1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLMBD1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NUN5
Secondary accession number(s): A8K204
, E1P531, Q5VUN6, Q86Y70, Q96FW4, Q9BY56, Q9NZD6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: October 1, 2000
Last modified: October 16, 2019
This is version 151 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
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