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Entry version 190 (11 Dec 2019)
Sequence version 4 (22 Sep 2009)
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Protein

Lipopolysaccharide-responsive and beige-like anchor protein

Gene

LRBA

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

May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.By similarity

Caution

Was originally said to be similar to yeast CDC4, but that similarity is very limited.1 Publication

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P50851

SIGNOR Signaling Network Open Resource

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SIGNORi
P50851

<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:
Lipopolysaccharide-responsive and beige-like anchor protein
Alternative name(s):
Beige-like protein
CDC4-like 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:LRBA
Synonyms:BGL, CDC4L, LBA
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000198589.10

Human Gene Nomenclature Database

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HGNCi
HGNC:1742 LRBA

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606453 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P50851

<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 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>Transmembranei1531 – 1548HelicalSequence analysisAdd BLAST18

<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>Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Golgi apparatus, 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

Immunodeficiency, common variable, 8, with autoimmunity (CVID8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.
Related information in OMIM
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_0686902657I → S in CVID8. 1 PublicationCorresponds to variant dbSNP:rs199469663Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
987

MalaCards human disease database

More...
MalaCardsi
LRBA
MIMi614700 phenotype

Open Targets

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OpenTargetsi
ENSG00000198589

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

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Orphaneti
445018 Combined immunodeficiency due to LRBA deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30444

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P50851 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LRBA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
259016388

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00000510682 – 2863Lipopolysaccharide-responsive and beige-like anchor proteinAdd BLAST2862

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei2N-acetylalanineCombined sources1
Modified residuei10PhosphoserineCombined sources1
Modified residuei979PhosphoserineCombined sources1
Modified residuei1003PhosphoserineBy similarity1
Modified residuei1100PhosphoserineCombined sources1
Modified residuei1135PhosphoserineCombined sources1
Modified residuei1139PhosphoserineCombined sources1
Modified residuei1233PhosphoserineBy similarity1
Modified residuei1247PhosphoserineCombined sources1
Modified residuei1261PhosphoserineCombined sources1
Modified residuei1488PhosphoserineCombined sources1
Modified residuei1498PhosphoserineCombined sources1
Modified residuei1605PhosphoserineCombined sources1
Modified residuei1767PhosphoserineBy similarity1
Modified residuei1770PhosphoserineBy similarity1
Modified residuei2064PhosphoserineCombined sources1
Modified residuei2496PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P50851

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P50851

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P50851

MaxQB - The MaxQuant DataBase

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MaxQBi
P50851

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

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PaxDbi
P50851

PeptideAtlas

More...
PeptideAtlasi
P50851

PRoteomics IDEntifications database

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PRIDEi
P50851

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56265 [P50851-1]
56266 [P50851-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P50851

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

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PhosphoSitePlusi
P50851

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P50851

<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

Ubiquitous.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By bacterial lipopolysaccharides (LPS).

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198589 Expressed in 214 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P50851 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P50851 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA019366
HPA023597

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107423, 45 interactors

Database of interacting proteins

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DIPi
DIP-50531N

Protein interaction database and analysis system

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IntActi
P50851, 26 interactors

Molecular INTeraction database

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MINTi
P50851

STRING: functional protein association networks

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STRINGi
9606.ENSP00000349629

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
P50851 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12863
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P50851

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P50851

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati1301 – 1343WD 1Add BLAST43
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini2073 – 2181BEACH-type PHPROSITE-ProRule annotationAdd BLAST109
Domaini2200 – 2489BEACHPROSITE-ProRule annotationAdd BLAST290
Repeati2591 – 2633WD 2Add BLAST43
Repeati2636 – 2679WD 3Add BLAST44
Repeati2695 – 2735WD 4Add BLAST41
Repeati2777 – 2816WD 5Add BLAST40
Repeati2819 – 2858WD 6Add BLAST40

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1006 – 1053Sequence analysisAdd BLAST48

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1990 – 1994Poly-Arg5

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1786 Eukaryota
ENOG410XNQC LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154778

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000082375

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P50851

Identification of Orthologs from Complete Genome Data

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OMAi
AVEHVCI

Database of Orthologous Groups

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OrthoDBi
153369at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P50851

TreeFam database of animal gene trees

More...
TreeFami
TF313490

Family and domain databases

Conserved Domains Database

More...
CDDi
cd06071 Beach, 1 hit
cd01201 PH_BEACH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.1540.10, 1 hit
1.25.10.10, 1 hit
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000409 BEACH_dom
IPR036372 BEACH_dom_sf
IPR013320 ConA-like_dom_sf
IPR010508 DUF1088
IPR031570 DUF4704
IPR023362 PH-BEACH_dom
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR036322 WD40_repeat_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02138 Beach, 1 hit
PF06469 DUF1088, 1 hit
PF15787 DUF4704, 1 hit
PF14844 PH_BEACH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01026 Beach, 1 hit
SM00320 WD40, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit
SSF49899 SSF49899, 1 hit
SSF50978 SSF50978, 1 hit
SSF81837 SSF81837, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50197 BEACH, 1 hit
PS51783 PH_BEACH, 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 (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P50851-1) [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
MASEDNRVPS PPPTGDDGGG GGREETPTEG GALSLKPGLP IRGIRMKFAV
60 70 80 90 100
LTGLVEVGEV SNRDIVETVF NLLVGGQFDL EMNFIIQEGE SINCMVDLLE
110 120 130 140 150
KCDITCQAEV WSMFTAILKK SIRNLQVCTE VGLVEKVLGK IEKVDNMIAD
160 170 180 190 200
LLVDMLGVLA SYNLTVRELK LFFSKLQGDK GRWPPHAGKL LSVLKHMPQK
210 220 230 240 250
YGPDAFFNFP GKSAAAIALP PIAKWPYQNG FTFHTWLRMD PVNNINVDKD
260 270 280 290 300
KPYLYCFRTS KGLGYSAHFV GGCLIVTSIK SKGKGFQHCV KFDFKPQKWY
310 320 330 340 350
MVTIVHIYNR WKNSELRCYV NGELASYGEI TWFVNTSDTF DKCFLGSSET
360 370 380 390 400
ADANRVFCGQ MTAVYLFSEA LNAAQIFAIY QLGLGYKGTF KFKAESDLFL
410 420 430 440 450
AEHHKLLLYD GKLSSAIAFT YNPRATDAQL CLESSPKDNP SIFVHSPHAL
460 470 480 490 500
MLQDVKAVLT HSIQSAMHSI GGVQVLFPLF AQLDYRQYLS DEIDLTICST
510 520 530 540 550
LLAFIMELLK NSIAMQEQML ACKGFLVIGY SLEKSSKSHV SRAVLELCLA
560 570 580 590 600
FSKYLSNLQN GMPLLKQLCD HVLLNPAIWI HTPAKVQLML YTYLSTEFIG
610 620 630 640 650
TVNIYNTIRR VGTVLLIMHT LKYYYWAVNP QDRSGITPKG LDGPRPNQKE
660 670 680 690 700
MLSLRAFLLM FIKQLVMKDS GVKEDELQAI LNYLLTMHED DNLMDVLQLL
710 720 730 740 750
VALMSEHPNS MIPAFDQRNG LRVIYKLLAS KSEGIRVQAL KAMGYFLKHL
760 770 780 790 800
APKRKAEVML GHGLFSLLAE RLMLQTNLIT MTTYNVLFEI LIEQIGTQVI
810 820 830 840 850
HKQHPDPDSS VKIQNPQILK VIATLLRNSP QCPESMEVRR AFLSDMIKLF
860 870 880 890 900
NNSRENRRSL LQCSVWQEWM LSLCYFNPKN SDEQKITEMV YAIFRILLYH
910 920 930 940 950
AVKYEWGGWR VWVDTLSITH SKVTFEIHKE NLANIFREQQ GKVDEEIGLC
960 970 980 990 1000
SSTSVQAASG IRRDINVSVG SQQPDTKDSP VCPHFTTNGN ENSSIEKTSS
1010 1020 1030 1040 1050
LESASNIELQ TTNTSYEEMK AEQENQELPD EGTLEETLTN ETRNADDLEV
1060 1070 1080 1090 1100
SSDIIEAVAI SSNSFITTGK DSMTVSEVTA SISSPSEEDA SEMPEFLDKS
1110 1120 1130 1140 1150
IVEEEEDDDY VELKVEGSPT EEANLPTELQ DNSLSPAASE AGEKLDMFGN
1160 1170 1180 1190 1200
DDKLIFQEGK PVTEKQTDTE TQDSKDSGIQ TMTASGSSAM SPETTVSQIA
1210 1220 1230 1240 1250
VESDLGQMLE EGKKATNLTR ETKLINDCHG SVSEASSEQK IAKLDVSNVA
1260 1270 1280 1290 1300
TDTERLELKA SPNVEAPQPH RHVLEISRQH EQPGQGIAPD AVNGQRRDSR
1310 1320 1330 1340 1350
STVFRIPEFN WSQMHQRLLT DLLFSIETDI QMWRSHSTKT VMDFVNSSDN
1360 1370 1380 1390 1400
VIFVHNTIHL ISQVMDNMVM ACGGILPLLS AATSATHELE NIEPTQGLSI
1410 1420 1430 1440 1450
EASVTFLQRL ISLVDVLIFA SSLGFTEIEA EKSMSSGGIL RQCLRLVCAV
1460 1470 1480 1490 1500
AVRNCLECQQ HSQLKTRGDK ALKPMHSLIP LGKSAAKSPV DIVTGGISPV
1510 1520 1530 1540 1550
RDLDRLLQDM DINRLRAVVF RDIEDSKQAQ FLALAVVYFI SVLMVSKYRD
1560 1570 1580 1590 1600
ILEPQNERHS QSCTETGSEN ENVSLSEITP AAFSTLTTAS VEESESTSSA
1610 1620 1630 1640 1650
RRRDSGIGEE TATGLGSHVE VTPHTAPPGV SAGPDAISEV LSTLSLEVNK
1660 1670 1680 1690 1700
SPETKNDRGN DLDTKATPSV SVSKNVNVKD ILRSLVNIPA DGVTVDPALL
1710 1720 1730 1740 1750
PPACLGALGD LSVEQPVQFR SFDRSVIVAA KKSAVSPSTF NTSIPTNAVS
1760 1770 1780 1790 1800
VVSSVDSAQA SDMGGESPGS RSSNAKLPSV PTVDSVSQDP VSNMSITERL
1810 1820 1830 1840 1850
EHALEKAAPL LREIFVDFAP FLSRTLLGSH GQELLIEGTS LVCMKSSSSV
1860 1870 1880 1890 1900
VELVMLLCSQ EWQNSIQKNA GLAFIELVNE GRLLSQTMKD HLVRVANEAE
1910 1920 1930 1940 1950
FILSRQRAED IHRHAEFESL CAQYSADKRE DEKMCDHLIR AAKYRDHVTA
1960 1970 1980 1990 2000
TQLIQKIINI LTDKHGAWGN SAVSRPLEFW RLDYWEDDLR RRRRFVRNPL
2010 2020 2030 2040 2050
GSTHPEATLK TAVEHVCIFK LRENSKATDE DILAKGKQSI RSQALGNQNS
2060 2070 2080 2090 2100
ENEILLEGDD DTLSSVDEKD LENLAGPVSL STPAQLVAPS VVVKGTLSVT
2110 2120 2130 2140 2150
SSELYFEVDE EDPNFKKIDP KILAYTEGLH GKWLFTEIRS IFSRRYLLQN
2160 2170 2180 2190 2200
TALEIFMANR VAVMFNFPDP ATVKKVVNYL PRVGVGTSFG LPQTRRISLA
2210 2220 2230 2240 2250
SPRQLFKASN MTQRWQHREI SNFEYLMFLN TIAGRSYNDL NQYPVFPWVI
2260 2270 2280 2290 2300
TNYESEELDL TLPTNFRDLS KPIGALNPKR AAFFAERYES WEDDQVPKFH
2310 2320 2330 2340 2350
YGTHYSTASF VLAWLLRIEP FTTYFLNLQG GKFDHADRTF SSISRAWRNS
2360 2370 2380 2390 2400
QRDTSDIKEL IPEFYYLPEM FVNFNNYNLG VMDDGTVVSD VELPPWAKTS
2410 2420 2430 2440 2450
EEFVHINRLA LESEFVSCQL HQWIDLIFGY KQQGPEAVRA LNVFYYLTYE
2460 2470 2480 2490 2500
GAVNLNSITD PVLREAVEAQ IRSFGQTPSQ LLIEPHPPRG SAMQVSPLMF
2510 2520 2530 2540 2550
TDKAQQDVIM VLKFPSNSPV THVAANTQPG LATPAVITVT ANRLFAVNKW
2560 2570 2580 2590 2600
HNLPAHQGAV QDQPYQLPVE IDPLIASNTG MHRRQITDLL DQSIQVHSQC
2610 2620 2630 2640 2650
FVITSDNRYI LVCGFWDKSF RVYSTDTGRL IQVVFGHWDV VTCLARSESY
2660 2670 2680 2690 2700
IGGNCYILSG SRDATLLLWY WNGKCSGIGD NPGSETAAPR AILTGHDYEV
2710 2720 2730 2740 2750
TCAAVCAELG LVLSGSQEGP CLIHSMNGDL LRTLEGPENC LKPKLIQASR
2760 2770 2780 2790 2800
EGHCVIFYEN GLFCTFSVNG KLQATMETDD NIRAIQLSRD GQYLLTGGDR
2810 2820 2830 2840 2850
GVVVVRQVSD LKQLFAYPGC DAGIRAMALS YDQRCIISGM ASGSIVLFYN
2860
DFNRWHHEYQ TRY
Length:2,863
Mass (Da):319,108
Last modified:September 22, 2009 - v4
<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:i58CD1F4314F685EE
GO
Isoform 2 (identifier: P50851-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2016-2026: Missing.
     2684-2684: Missing.

Show »
Length:2,851
Mass (Da):317,702
Checksum:iDA708A4D40A9889E
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YAC6H0YAC6_HUMAN
Lipopolysaccharide-responsive and b...
LRBA
1,505Annotation 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>
E9PEM5E9PEM5_HUMAN
Lipopolysaccharide-responsive and b...
LRBA
2,575Annotation 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>
A0A494BZW2A0A494BZW2_HUMAN
Lipopolysaccharide-responsive and b...
LRBA
2,095Annotation 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>
A0A494C0R9A0A494C0R9_HUMAN
Lipopolysaccharide-responsive and b...
LRBA
1,880Annotation 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>
H0YA17H0YA17_HUMAN
Lipopolysaccharide-responsive and b...
LRBA
147Annotation 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>
H0Y9N9H0Y9N9_HUMAN
Lipopolysaccharide-responsive and b...
LRBA
134Annotation 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>
A0A3B3IS13A0A3B3IS13_HUMAN
Lipopolysaccharide-responsive and b...
LRBA
686Annotation 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>
A0A3B3ISK3A0A3B3ISK3_HUMAN
Lipopolysaccharide-responsive and b...
LRBA
237Annotation 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>
A0A3B3IU76A0A3B3IU76_HUMAN
Lipopolysaccharide-responsive and b...
LRBA
242Annotation 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>
A0A494C1L5A0A494C1L5_HUMAN
Lipopolysaccharide-responsive and b...
LRBA
2,852Annotation 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>

<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 AAB09603 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti377F → L in AAM53530 (PubMed:12160729).Curated1
Sequence conflicti750 – 751LA → RP in AAG48558 (PubMed:11254716).Curated2
Sequence conflicti2179Y → F in AAG48558 (PubMed:11254716).Curated1
Sequence conflicti2179Y → F in AAB09603 (PubMed:15815621).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0576051090A → G1 PublicationCorresponds to variant dbSNP:rs1782360EnsemblClinVar.1
Natural variantiVAR_0576061230G → D. Corresponds to variant dbSNP:rs34708681EnsemblClinVar.1
Natural variantiVAR_0576071677N → S. Corresponds to variant dbSNP:rs17027133EnsemblClinVar.1
Natural variantiVAR_0576081997R → C. Corresponds to variant dbSNP:rs35879351EnsemblClinVar.1
Natural variantiVAR_0358832038Q → H in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0358842274G → R in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0686902657I → S in CVID8. 1 PublicationCorresponds to variant dbSNP:rs199469663Ensembl.1
Natural variantiVAR_0358852701T → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0576092704A → T. Corresponds to variant dbSNP:rs3749574Ensembl.1
Natural variantiVAR_0576102713L → F. Corresponds to variant dbSNP:rs34662958Ensembl.1
Natural variantiVAR_0220282809S → L. Corresponds to variant dbSNP:rs2290846Ensembl.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_0382252016 – 2026Missing in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_0382262684Missing in isoform 2. 1 Publication1

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
AF216648 mRNA Translation: AAG48558.2
AF217149 mRNA Translation: AAG48559.1
AF467287 mRNA Translation: AAM53530.1
AC092544 Genomic DNA No translation available.
AC092612 Genomic DNA No translation available.
AC093748 Genomic DNA Translation: AAY40984.1
AC097373 Genomic DNA Translation: AAY40973.1
AC104796 Genomic DNA No translation available.
AC110813 Genomic DNA No translation available.
M83822 mRNA Translation: AAB09603.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3773.1 [P50851-1]
CCDS58928.1 [P50851-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001186211.2, NM_001199282.2 [P50851-2]
NP_006717.2, NM_006726.4 [P50851-1]
XP_011530736.1, XM_011532434.2 [P50851-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000357115; ENSP00000349629; ENSG00000198589 [P50851-1]
ENST00000510413; ENSP00000421552; ENSG00000198589 [P50851-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
987

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:987

UCSC genome browser

More...
UCSCi
uc003ilu.5 human [P50851-1]

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
AF216648 mRNA Translation: AAG48558.2
AF217149 mRNA Translation: AAG48559.1
AF467287 mRNA Translation: AAM53530.1
AC092544 Genomic DNA No translation available.
AC092612 Genomic DNA No translation available.
AC093748 Genomic DNA Translation: AAY40984.1
AC097373 Genomic DNA Translation: AAY40973.1
AC104796 Genomic DNA No translation available.
AC110813 Genomic DNA No translation available.
M83822 mRNA Translation: AAB09603.1 Frameshift.
CCDSiCCDS3773.1 [P50851-1]
CCDS58928.1 [P50851-2]
RefSeqiNP_001186211.2, NM_001199282.2 [P50851-2]
NP_006717.2, NM_006726.4 [P50851-1]
XP_011530736.1, XM_011532434.2 [P50851-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1T77X-ray2.40A/B/C/D2076-2489[»]
SMRiP50851
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi107423, 45 interactors
DIPiDIP-50531N
IntActiP50851, 26 interactors
MINTiP50851
STRINGi9606.ENSP00000349629

PTM databases

iPTMnetiP50851
PhosphoSitePlusiP50851
SwissPalmiP50851

Polymorphism and mutation databases

BioMutaiLRBA
DMDMi259016388

Proteomic databases

EPDiP50851
jPOSTiP50851
MassIVEiP50851
MaxQBiP50851
PaxDbiP50851
PeptideAtlasiP50851
PRIDEiP50851
ProteomicsDBi56265 [P50851-1]
56266 [P50851-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
987

Genome annotation databases

EnsembliENST00000357115; ENSP00000349629; ENSG00000198589 [P50851-1]
ENST00000510413; ENSP00000421552; ENSG00000198589 [P50851-2]
GeneIDi987
KEGGihsa:987
UCSCiuc003ilu.5 human [P50851-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
987
DisGeNETi987
EuPathDBiHostDB:ENSG00000198589.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LRBA
HGNCiHGNC:1742 LRBA
HPAiHPA019366
HPA023597
MalaCardsiLRBA
MIMi606453 gene
614700 phenotype
neXtProtiNX_P50851
OpenTargetsiENSG00000198589
Orphaneti445018 Combined immunodeficiency due to LRBA deficiency
PharmGKBiPA30444

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1786 Eukaryota
ENOG410XNQC LUCA
GeneTreeiENSGT00940000154778
HOGENOMiHOG000082375
InParanoidiP50851
OMAiAVEHVCI
OrthoDBi153369at2759
PhylomeDBiP50851
TreeFamiTF313490

Enzyme and pathway databases

SignaLinkiP50851
SIGNORiP50851

Miscellaneous databases

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

More...
ChiTaRSi
LRBA human
EvolutionaryTraceiP50851

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
LRBA

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

More...
GenomeRNAii
987
PharosiP50851 Tbio

Protein Ontology

More...
PROi
PR:P50851
RNActiP50851 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198589 Expressed in 214 organ(s), highest expression level in intestine
ExpressionAtlasiP50851 baseline and differential
GenevisibleiP50851 HS

Family and domain databases

CDDicd06071 Beach, 1 hit
cd01201 PH_BEACH, 1 hit
Gene3Di1.10.1540.10, 1 hit
1.25.10.10, 1 hit
2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000409 BEACH_dom
IPR036372 BEACH_dom_sf
IPR013320 ConA-like_dom_sf
IPR010508 DUF1088
IPR031570 DUF4704
IPR023362 PH-BEACH_dom
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF02138 Beach, 1 hit
PF06469 DUF1088, 1 hit
PF15787 DUF4704, 1 hit
PF14844 PH_BEACH, 1 hit
SMARTiView protein in SMART
SM01026 Beach, 1 hit
SM00320 WD40, 5 hits
SUPFAMiSSF48371 SSF48371, 1 hit
SSF49899 SSF49899, 1 hit
SSF50978 SSF50978, 1 hit
SSF81837 SSF81837, 1 hit
PROSITEiView protein in PROSITE
PS50197 BEACH, 1 hit
PS51783 PH_BEACH, 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 nameiLRBA_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: P50851
Secondary accession number(s): Q4W5J4
, Q4W5L6, Q8NFQ0, Q9H2U3, Q9H2U4
<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: October 1, 1996
Last sequence update: September 22, 2009
Last modified: December 11, 2019
This is version 190 of the entry and version 4 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

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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