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UniProtKB - Q8NFP9 (NBEA_HUMAN)

Entry version 185 (23 Feb 2022)
Sequence version 3 (18 May 2010)
Previous versions | rss
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Protein

Neurobeachin

Gene

NBEA

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

Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity).

By similarity

<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

  • protein kinase binding Source: GO_Central
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NFP9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-112314, Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-163615, PKA activation
R-HSA-2122947, NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors

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

More...SignaLinki		Q8NFP9

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8NFP9

<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%5Fand%5Ftaxonomy%5Fsection">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:
NeurobeachinCurated
Alternative name(s):
Lysosomal-trafficking regulator 2
Protein BCL8B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:NBEAImported
Synonyms:BCL8B, KIAA1544, LYST2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 13

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7648, NBEA

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604889, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NFP9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000172915

<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

<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

Cytoplasm, 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

Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, and behavioral abnormalities including autism or autistic features, attention deficits and hyperactivity, or aggressive behavior. About half of patients develop early-onset generalized epilepsy with different seizure types. The disease is apparent from infancy or early childhood.
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_085275336 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST2611
Natural variantiVAR_085276483A → V in NEDEGE. 1 Publication1
Natural variantiVAR_085366946H → Y in NEDEGE. 1 Publication1
Natural variantiVAR_0852781278 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST1669
Natural variantiVAR_0852791332P → S in NEDEGE. 1 Publication1
Natural variantiVAR_0852801572 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST1375
Natural variantiVAR_0852812105 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST842
Natural variantiVAR_0852822213 – 2946Missing in NEDEGE; unknown pathological significance. 1 PublicationAdd BLAST734
Natural variantiVAR_0852832277 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST670
Natural variantiVAR_0852842290 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST657
Natural variantiVAR_0852852488 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST459
Natural variantiVAR_0852862801E → K in NEDEGE. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		26960

MalaCards human disease database

More...MalaCardsi		NBEA
MIMi619157, phenotype

Open Targets

More...OpenTargetsi		ENSG00000172915

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

More...Orphaneti		178469, Autosomal dominant non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31454

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NFP9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NBEA

Domain mapping of disease mutations (DMDM)

More...DMDMi		296439289

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000510891 – 2946NeurobeachinAdd BLAST2946

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 residuei1011PhosphoserineBy similarity1
Modified residuei1014PhosphoserineBy similarity1
Modified residuei1529PhosphoserineBy similarity1
Modified residuei1714PhosphoserineBy similarity1
Modified residuei1717PhosphoserineBy similarity1
Modified residuei2138PhosphoserineBy similarity1
Modified residuei2575PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NFP9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NFP9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NFP9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NFP9

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

More...PaxDbi		Q8NFP9

PeptideAtlas

More...PeptideAtlasi		Q8NFP9

PRoteomics IDEntifications database

More...PRIDEi		Q8NFP9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		6440
73333 [Q8NFP9-1]
73334 [Q8NFP9-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8NFP9, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NFP9

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

More...PhosphoSitePlusi		Q8NFP9

<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

Predominant in many brain structures. Also expressed at medium levels in spleen, thymus, prostate, testis and ovary. Low level expression is seen in heart, kidney, pancreas, skeletal muscle and intestine.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000172915, Expressed in neocortex and 222 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NFP9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NFP9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000172915, Group enriched (brain, retina)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RII subunit of PKA.

By similarity

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117928, 55 interactors

Protein interaction database and analysis system

More...IntActi		Q8NFP9, 21 interactors

Molecular INTeraction database

More...MINTi		Q8NFP9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000383295

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NFP9, 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

12946
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

More...SMRi		Q8NFP9

Database of comparative protein structure models

More...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		Q8NFP9

<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>Repeati1326 – 1368WD 1CuratedAdd BLAST43
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">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>Domaini2147 – 2255BEACH-type PHPROSITE-ProRule annotationAdd BLAST109
Domaini2274 – 2563BEACHPROSITE-ProRule annotationCuratedAdd BLAST290
Repeati2718 – 2761WD 2CuratedAdd BLAST44
Repeati2778 – 2818WD 3CuratedAdd BLAST41
Repeati2860 – 2899WD 4CuratedAdd BLAST40
Repeati2902 – 2941WD 5CuratedAdd BLAST40

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni971 – 995DisorderedSequence analysisAdd BLAST25
Regioni1490 – 1531DisorderedSequence analysisAdd BLAST42
Regioni1651 – 1675DisorderedSequence analysisAdd BLAST25
Regioni1711 – 1731DisorderedSequence analysisAdd BLAST21
Regioni1841 – 1860DisorderedSequence analysisAdd BLAST20

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi978 – 995Polar residuesSequence analysisAdd BLAST18
Compositional biasi1500 – 1524Polar residuesSequence analysisAdd BLAST25

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.By similarity

<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 WD repeat neurobeachin family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1787, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154934

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NFP9

Identification of Orthologs from Complete Genome Data

More...OMAi		DSAYCAV

Database of Orthologous Groups

More...OrthoDBi		101142at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NFP9

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
2.130.10.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016024, ARM-type_fold
IPR000409, BEACH_dom
IPR036372, BEACH_dom_sf
IPR013320, ConA-like_dom_sf
IPR010508, NBEA-like_DUF1088
IPR031570, NBEA/BDCP_DUF4704
IPR023362, PH-BEACH_dom
IPR011993, PH-like_dom_sf
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
PS50294, WD_REPEATS_REGION, 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%5Flength">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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 <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 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1Curated (identifier: Q8NFP9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MASEKPGPGP GLEPQPVGLI AVGAAGGGGG GSGGGGTGGS GMGELRGASG 
        60         70         80         90        100
SGSVMLPAGM INPSVPIRNI RMKFAVLIGL IQVGEVSNRD IVETVLNLLV 
       110        120        130        140        150
GGEFDLEMNF IIQDAESITC MTELLEHCDV TCQAEIWSMF TAILRKSVRN 
       160        170        180        190        200
LQTSTEVGLI EQVLLKMSAV DDMIADLLVD MLGVLASYSI TVKELKLLFS 
       210        220        230        240        250
MLRGESGIWP RHAVKLLSVL NQMPQRHGPD TFFNFPGCSA AAIALPPIAK 
       260        270        280        290        300
WPYQNGFTLN TWFRMDPLNN INVDKDKPYL YCFRTSKGVG YSAHFVGNCL 
       310        320        330        340        350
IVTSLKSKGK GFQHCVKYDF QPRKWYMISI VHIYNRWRNS EIRCYVNGQL 
       360        370        380        390        400
VSYGDMAWHV NTNDSYDKCF LGSSETADAN RVFCGQLGAV YVFSEALNPA 
       410        420        430        440        450
QIFAIHQLGP GYKSTFKFKS ESDIHLAEHH KQVLYDGKLA SSIAFTYNAK 
       460        470        480        490        500
ATDAQLCLES SPKENASIFV HSPHALMLQD VKAIVTHSIH SAIHSIGGIQ 
       510        520        530        540        550
VLFPLFAQLD NRQLNDSQVE TTVCATLLAF LVELLKSSVA MQEQMLGGKG 
       560        570        580        590        600
FLVIGYLLEK SSRVHITRAV LEQFLSFAKY LDGLSHGAPL LKQLCDHILF 
       610        620        630        640        650
NPAIWIHTPA KVQLSLYTYL SAEFIGTATI YTTIRRVGTV LQLMHTLKYY 
       660        670        680        690        700
YWVINPADSS GITPKGLDGP RPSQKEIISL RAFMLLFLKQ LILKDRGVKE 
       710        720        730        740        750
DELQSILNYL LTMHEDENIH DVLQLLVALM SEHPASMIPA FDQRNGIRVI 
       760        770        780        790        800
YKLLASKSES IWVQALKVLG YFLKHLGHKR KVEIMHTHSL FTLLGERLML 
       810        820        830        840        850
HTNTVTVTTY NTLYEILTEQ VCTQVVHKPH PEPDSTVKIQ NPMILKVVAT 
       860        870        880        890        900
LLKNSTPSAE LMEVRRLFLS DMIKLFSNSR ENRRCLLQCS VWQDWMFSLG 
       910        920        930        940        950
YINPKNSEEQ KITEMVYNIF RILLYHAIKY EWGGWRVWVD TLSIAHSKVT 
       960        970        980        990       1000
YEAHKEYLAK MYEEYQRQEE ENIKKGKKGN VSTISGLSSQ TTGAKGGMEI 
      1010       1020       1030       1040       1050
REIEDLSQSQ SPESETDYPV STDTRDLLMS TKVSDDILGN SDRPGSGVHV 
      1060       1070       1080       1090       1100
EVHDLLVDIK AEKVEATEVK LDDMDLSPET LVGGENGALV EVESLLDNVY 
      1110       1120       1130       1140       1150
SAAVEKLQNN VHGSVGIIKK NEEKDNGPLI TLADEKEDLP NSSTSFLFDK 
      1160       1170       1180       1190       1200
IPKQEEKLLP ELSSNHIIPN IQDTQVHLGV SDDLGLLAHM TGSVDLTCTS 
      1210       1220       1230       1240       1250
SIIEEKEFKI HTTSDGMSSI SERDLASSTK GLEYAEMTAT TLETESSSSK 
      1260       1270       1280       1290       1300
IVPNIDAGSI ISDTERSDDG KESGKEIRKI QTTTTTQAVQ GRSITQQDRD 
      1310       1320       1330       1340       1350
LRVDLGFRGM PMTEEQRRQF SPGPRTTMFR IPEFKWSPMH QRLLTDLLFA 
      1360       1370       1380       1390       1400
LETDVHVWRS HSTKSVMDFV NSNENIIFVH NTIHLISQMV DNIIIACGGI 
      1410       1420       1430       1440       1450
LPLLSAATSP TGSKTELENI EVTQGMSAET AVTFLSRLMA MVDVLVFASS 
      1460       1470       1480       1490       1500
LNFSEIEAEK NMSSGGLMRQ CLRLVCCVAV RNCLECRQRQ RDRGNKSSHG 
      1510       1520       1530       1540       1550
SSKPQEVPQS VTATAASKTP LENVPGNLSP IKDPDRLLQD VDINRLRAVV 
      1560       1570       1580       1590       1600
FRDVDDSKQA QFLALAVVYF ISVLMVSKYR DILEPQRETT RTGSQPGRNI 
      1610       1620       1630       1640       1650
RQEINSPTST VVVIPSIPHP SLNHGFLAKL IPEQSFGHSF YKETPAAFPD 
      1660       1670       1680       1690       1700
TIKEKETPTP GEDIQVESSI PHTDSGIGEE QVASILNGAE LETSTGPDAM 
      1710       1720       1730       1740       1750
SELLSTLSSE VKKSQESLTE NPSETLKPAT SISSISQTKG INVKEILKSL 
      1760       1770       1780       1790       1800
VAAPVEIAEC GPEPIPYPDP ALKRETQAIL PMQFHSFDRS VVVPVKKPPP 
      1810       1820       1830       1840       1850
GSLAVTTVGA TTAGSGLPTG STSNIFAATG ATPKSMINTT GAVDSGSSSS 
      1860       1870       1880       1890       1900
SSSSSFVNGA TSKNLPAVQT VAPMPEDSAE NMSITAKLER ALEKVAPLLR 
      1910       1920       1930       1940       1950
EIFVDFAPFL SRTLLGSHGQ ELLIEGLVCM KSSTSVVELV MLLCSQEWQN 
      1960       1970       1980       1990       2000
SIQKNAGLAF IELINEGRLL CHAMKDHIVR VANEAEFILN RQRAEDVHKH 
      2010       2020       2030       2040       2050
AEFESQCAQY AADRREEEKM CDHLISAAKH RDHVTANQLK QKILNILTNK 
      2060       2070       2080       2090       2100
HGAWGAVSHS QLHDFWRLDY WEDDLRRRRR FVRNAFGSTH AEALLKAAIE 
      2110       2120       2130       2140       2150
YGTEEDVVKS KKTFRSQAIV NQNAETELML EGDDDAVSLL QEKEIDNLAG 
      2160       2170       2180       2190       2200
PVVLSTPAQL IAPVVVAKGT LSITTTEIYF EVDEDDSAFK KIDTKVLAYT 
      2210       2220       2230       2240       2250
EGLHGKWMFS EIRAVFSRRY LLQNTALEVF MANRTSVMFN FPDQATVKKV 
      2260       2270       2280       2290       2300
VYSLPRVGVG TSYGLPQARR ISLATPRQLY KSSNMTQRWQ RREISNFEYL 
      2310       2320       2330       2340       2350
MFLNTIAGRT YNDLNQYPVF PWVLTNYESE ELDLTLPGNF RDLSKPIGAL 
      2360       2370       2380       2390       2400
NPKRAVFYAE RYETWEDDQS PPYHYNTHYS TATSTLSWLV RIEPFTTFFL 
      2410       2420       2430       2440       2450
NANDGKFDHP DRTFSSVARS WRTSQRDTSD VKELIPEFYY LPEMFVNSNG 
      2460       2470       2480       2490       2500
YNLGVREDEV VVNDVDLPPW AKKPEDFVRI NRMALESEFV SCQLHQWIDL 
      2510       2520       2530       2540       2550
IFGYKQRGPE AVRALNVFHY LTYEGSVNLD SITDPVLREA MEAQIQNFGQ 
      2560       2570       2580       2590       2600
TPSQLLIEPH PPRSSAMHLC FLPQSPLMFK DQMQQDVIMV LKFPSNSPVT 
      2610       2620       2630       2640       2650
HVAANTLPHL TIPAVVTVTC SRLFAVNRWH NTVGLRGAPG YSLDQAHHLP 
      2660       2670       2680       2690       2700
IEMDPLIANN SGVNKRQITD LVDQSIQINA HCFVVTADNR YILICGFWDK 
      2710       2720       2730       2740       2750
SFRVYSTETG KLTQIVFGHW DVVTCLARSE SYIGGDCYIV SGSRDATLLL 
      2760       2770       2780       2790       2800
WYWSGRHHII GDNPNSSDYP APRAVLTGHD HEVVCVSVCA ELGLVISGAK 
      2810       2820       2830       2840       2850
EGPCLVHTIT GDLLRALEGP ENCLFPRLIS VSSEGHCIIY YERGRFSNFS 
      2860       2870       2880       2890       2900
INGKLLAQME INDSTRAILL SSDGQNLVTG GDNGVVEVWQ ACDFKQLYIY 
      2910       2920       2930       2940 
PGCDAGIRAM DLSHDQRTLI TGMASGSIVA FNIDFNRWHY EHQNRY
Length:2,946
Mass (Da):327,822
Last modified:May 18, 2010 - v3
<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:i2E371FDA2F00781E
GO
Isoform 2Curated (identifier: Q8NFP9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2443: Missing.
     2539-2539: E → EIPEAYFIRDPHTFLLTKDFIK

Show »
Length:524
Mass (Da):58,802
Checksum:iF4A38C3EFE58D390
GO
Isoform 3 (identifier: Q8NFP9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2207: Missing.

Show »
Length:739
Mass (Da):84,001
Checksum:i38BA7126B5FFBBE7
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T321Q5T321_HUMAN
Neurobeachin
NBEA
2,967Annotation score:

Annotation score:2 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>
A0A0D9SF28A0A0D9SF28_HUMAN
Neurobeachin
NBEA
1,570Annotation 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 AAD41633 differs from that shown. Reason: Frameshift.Curated
The sequence BAA91485 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.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 conflicti1658P → S in AAM53531 (PubMed:12160729).Curated1
Sequence conflicti2564S → N in AAD41633 (Ref. 6) Curated1
Sequence conflicti2706S → T in AAD41633 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_085275336 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST2611
Natural variantiVAR_085276483A → V in NEDEGE. 1 Publication1
Natural variantiVAR_047658569A → P. Corresponds to variant dbSNP:rs5011295Ensembl.1
Natural variantiVAR_085366946H → Y in NEDEGE. 1 Publication1
Natural variantiVAR_0852781278 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST1669
Natural variantiVAR_0852791332P → S in NEDEGE. 1 Publication1
Natural variantiVAR_0852801572 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST1375
Natural variantiVAR_0852812105 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST842
Natural variantiVAR_0852822213 – 2946Missing in NEDEGE; unknown pathological significance. 1 PublicationAdd BLAST734
Natural variantiVAR_0852832277 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST670
Natural variantiVAR_0852842290 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST657
Natural variantiVAR_0852852488 – 2946Missing in NEDEGE. 1 PublicationAdd BLAST459
Natural variantiVAR_0476592501I → V. Corresponds to variant dbSNP:rs11538677Ensembl.1
Natural variantiVAR_0852862801E → K in NEDEGE. 1 Publication1

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_0505381 – 2443Missing in isoform 2. 1 PublicationAdd BLAST2443
Alternative sequenceiVSP_0463971 – 2207Missing in isoform 3. 1 PublicationAdd BLAST2207
Alternative sequenceiVSP_0505392539E → EIPEAYFIRDPHTFLLTKDF IK 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
AF467288 mRNA Translation: AAM53531.1
AL138690 Genomic DNA No translation available.
AK001059 mRNA Translation: BAA91485.1 Sequence problems.
AK294737 mRNA Translation: BAH11865.1
AL139083, AL390071 Genomic DNA Translation: CAH71883.1
AL159160 Genomic DNA No translation available.
AL161718 Genomic DNA No translation available.
AL161902 Genomic DNA No translation available.
AL356430 Genomic DNA No translation available.
AL357083 Genomic DNA No translation available.
AL390071, AL139083 Genomic DNA Translation: CAI17183.1
AB046764 mRNA Translation: BAB13370.1
AL137748 mRNA Translation: CAB70903.2
AF072371 mRNA Translation: AAD41633.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS45026.1 [Q8NFP9-1]
CCDS55894.1 [Q8NFP9-3]

Protein sequence database of the Protein Information Resource

More...PIRi		T46310

NCBI Reference Sequences

More...RefSeqi		NP_001191126.1, NM_001204197.1 [Q8NFP9-3]
NP_056493.3, NM_015678.4 [Q8NFP9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000400445; ENSP00000383295; ENSG00000172915
ENST00000537702; ENSP00000440233; ENSG00000172915 [Q8NFP9-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26960

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26960

UCSC genome browser

More...UCSCi		uc058wka.1, human [Q8NFP9-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF467288 mRNA Translation: AAM53531.1
AL138690 Genomic DNA No translation available.
AK001059 mRNA Translation: BAA91485.1 Sequence problems.
AK294737 mRNA Translation: BAH11865.1
AL139083, AL390071 Genomic DNA Translation: CAH71883.1
AL159160 Genomic DNA No translation available.
AL161718 Genomic DNA No translation available.
AL161902 Genomic DNA No translation available.
AL356430 Genomic DNA No translation available.
AL357083 Genomic DNA No translation available.
AL390071, AL139083 Genomic DNA Translation: CAI17183.1
AB046764 mRNA Translation: BAB13370.1
AL137748 mRNA Translation: CAB70903.2
AF072371 mRNA Translation: AAD41633.1 Frameshift.
CCDSiCCDS45026.1 [Q8NFP9-1]
CCDS55894.1 [Q8NFP9-3]
PIRiT46310
RefSeqiNP_001191126.1, NM_001204197.1 [Q8NFP9-3]
NP_056493.3, NM_015678.4 [Q8NFP9-1]

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
1MI1X-ray2.90A/B2150-2563[»]
SMRiQ8NFP9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117928, 55 interactors
IntActiQ8NFP9, 21 interactors
MINTiQ8NFP9
STRINGi9606.ENSP00000383295

PTM databases

GlyGeniQ8NFP9, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ8NFP9
PhosphoSitePlusiQ8NFP9

Genetic variation databases

BioMutaiNBEA
DMDMi296439289

Proteomic databases

EPDiQ8NFP9
jPOSTiQ8NFP9
MassIVEiQ8NFP9
MaxQBiQ8NFP9
PaxDbiQ8NFP9
PeptideAtlasiQ8NFP9
PRIDEiQ8NFP9
ProteomicsDBi6440
73333 [Q8NFP9-1]
73334 [Q8NFP9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22966, 72 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		26960

Genome annotation databases

EnsembliENST00000400445; ENSP00000383295; ENSG00000172915
ENST00000537702; ENSP00000440233; ENSG00000172915 [Q8NFP9-3]
GeneIDi26960
KEGGihsa:26960
UCSCiuc058wka.1, human [Q8NFP9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26960
DisGeNETi26960

GeneCards: human genes, protein and diseases

More...GeneCardsi		NBEA
HGNCiHGNC:7648, NBEA
HPAiENSG00000172915, Group enriched (brain, retina)
MalaCardsiNBEA
MIMi604889, gene
619157, phenotype
neXtProtiNX_Q8NFP9
OpenTargetsiENSG00000172915
Orphaneti178469, Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA31454
VEuPathDBiHostDB:ENSG00000172915

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1787, Eukaryota
GeneTreeiENSGT00940000154934
InParanoidiQ8NFP9
OMAiDSAYCAV
OrthoDBi101142at2759
PhylomeDBiQ8NFP9
TreeFamiTF313490

Enzyme and pathway databases

PathwayCommonsiQ8NFP9
ReactomeiR-HSA-112314, Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-163615, PKA activation
R-HSA-2122947, NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors
SignaLinkiQ8NFP9
SIGNORiQ8NFP9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		26960, 7 hits in 1040 CRISPR screens

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

More...ChiTaRSi		NBEA, human
EvolutionaryTraceiQ8NFP9

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

More...GenomeRNAii		26960
PharosiQ8NFP9, Tbio

Protein Ontology

More...PROi		PR:Q8NFP9
RNActiQ8NFP9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000172915, Expressed in neocortex and 222 other tissues
ExpressionAtlasiQ8NFP9, baseline and differential
GenevisibleiQ8NFP9, HS

Family and domain databases

CDDicd06071, Beach, 1 hit
cd01201, PH_BEACH, 1 hit
Gene3Di1.10.1540.10, 1 hit
2.130.10.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR016024, ARM-type_fold
IPR000409, BEACH_dom
IPR036372, BEACH_dom_sf
IPR013320, ConA-like_dom_sf
IPR010508, NBEA-like_DUF1088
IPR031570, NBEA/BDCP_DUF4704
IPR023362, PH-BEACH_dom
IPR011993, PH-like_dom_sf
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
PS50294, WD_REPEATS_REGION, 1 hit

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 nameiNBEA_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: Q8NFP9
Secondary accession number(s): B7Z2H9
, Q5T320, Q9HCM8, Q9NSU1, Q9NW98, Q9Y6J1
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: May 18, 2010
Last modified: February 23, 2022
This is version 185 of the entry and version 3 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. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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