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UniProtKB - Q8N2C7 (UNC80_HUMAN)

Entry version 125 (10 Feb 2021)
Sequence version 2 (24 Mar 2009)
Previous versions | rss
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Protein

Protein unc-80 homolog

Gene

UNC80

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 transcript 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

Component of the NALCN sodium channel complex, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium.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

  • cation channel activity 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		Q8N2C7

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2672351, Stimuli-sensing channels

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.1.11.15, the voltage-gated ion channel (vic) superfamily

<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:
Protein unc-80 homolog
<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:UNC80
Synonyms:C2orf21, KIAA1843
<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)
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:26582, UNC80

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612636, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8N2C7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000144406.18

<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%5Flocation%5Fsection">'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>Transmembranei2268 – 2288HelicalSequence analysisAdd BLAST21
Transmembranei2398 – 2418HelicalSequence analysisAdd BLAST21
Transmembranei2785 – 2805HelicalSequence analysisAdd BLAST21
Transmembranei2831 – 2851HelicalSequence analysisAdd BLAST21

<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

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

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures.
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_075874189V → M in IHPRF2. 1 PublicationCorresponds to variant dbSNP:rs864321623EnsemblClinVar.1
Natural variantiVAR_0758751700P → S in IHPRF2. 1 PublicationCorresponds to variant dbSNP:rs869025316EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		285175

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

More...GeneReviewsi		UNC80

MalaCards human disease database

More...MalaCardsi		UNC80
MIMi616801, phenotype

Open Targets

More...OpenTargetsi		ENSG00000144406

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

More...Orphaneti		371364, Hypotonia-speech impairment-severe cognitive delay syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA165697705

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8N2C7, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		UNC80

Domain mapping of disease mutations (DMDM)

More...DMDMi		226698393

<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_00000893481 – 3258Protein unc-80 homologAdd BLAST3258

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 residuei257PhosphoserineBy similarity1
Modified residuei525PhosphoserineBy similarity1
Modified residuei3042PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Phosphorylated on tyrosine residues.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8N2C7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8N2C7

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

More...PaxDbi		Q8N2C7

PeptideAtlas

More...PeptideAtlasi		Q8N2C7

PRoteomics IDEntifications database

More...PRIDEi		Q8N2C7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		71677 [Q8N2C7-1]
71678 [Q8N2C7-2]
71679 [Q8N2C7-3]
71680 [Q8N2C7-4]
71681 [Q8N2C7-5]
71682 [Q8N2C7-6]
8128

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8N2C7

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

More...PhosphoSitePlusi		Q8N2C7

<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

Moderately expressed in fetal brain, spinal cord, skeletal muscle, thymus, spleen, fetal liver, small intestine, colon, kidney and uterus. Highly expressed in adrenal gland, prostate and testis, as well as in brain and cerebellum.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000144406, Expressed in cerebellar vermis and 120 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8N2C7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8N2C7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000144406, Group enriched (adrenal gland, brain, pituitary gland, testis)

<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

Found in a complex with NALCN, UNC79 and UNC80; UNC80 bridges NALCN to UNC79.

Interacts with NALCN.

Interacts with UNC79.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		130032, 6 interactors

Protein interaction database and analysis system

More...IntActi		Q8N2C7, 5 interactors

Molecular INTeraction database

More...MINTi		Q8N2C7

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000391088

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8N2C7, 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

3D structure databases

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

More...SMRi		Q8N2C7

Database of comparative protein structure models

More...ModBasei		Search...

<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

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 biasi720 – 766Gly-richAdd BLAST47

<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 unc-80 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QSTP, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00640000091496

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000495_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8N2C7

Identification of Orthologs from Complete Genome Data

More...OMAi		FYQWAEA

Database of Orthologous Groups

More...OrthoDBi		82175at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8N2C7

TreeFam database of animal gene trees

More...TreeFami		TF313531

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR031542, UNC80_N

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15778, UNC80, 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 (7+)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 7 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N2C7-1) [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
MVKRKSSEGQ EQDGGRGIPL PIQTFLWRQT SAFLRPKLGK QYEASCVSFE 
        60         70         80         90        100
RVLVENKLHG LSPALSEAIQ SISRWELVQA ALPHVLHCTA TLLSNRNKLG 
       110        120        130        140        150
HQDKLGVAET KLLHTLHWML LEAPQDCNNE RFGGTDRGSS WGGSSSAFIH 
       160        170        180        190        200
QVENQGSPGQ PCQSSSNDEE ENNRRKIFQN SMATVELFVF LFAPLVHRIK 
       210        220        230        240        250
ESDLTFRLAS GLVIWQPMWE HRQPGVSGFT ALVKPIRNII TAKRSSPINS 
       260        270        280        290        300
QSRTCESPNQ DARHLEGLQV VCETFQSDSI SPKATISGCH RGNSFDGSLS 
       310        320        330        340        350
SQTSQERGPS HSRASLVIPP CQRSRYATYF DVAVLRCLLQ PHWSEEGTQW 
       360        370        380        390        400
SLMYYLQRLR HMLEEKPEKP PEPDIPLLPR PRSSSMVAAA PSLVNTHKTQ 
       410        420        430        440        450
DLTMKCNEEE KSLSSEAFSK VSLTNLRRSA VPDLSSDLGM NIFKKFKSRK 
       460        470        480        490        500
EDRERKGSIP FHHTGKRRPR RMGVPFLLHE DHLDVSPTRS TFSFGSFSGL 
       510        520        530        540        550
GEDRRGIEKG GWQTTILGKL TRRGSSDAAT EMESLSARHS HSHHTLVSDL 
       560        570        580        590        600
PDPSNSHGEN TVKEVRSQIS TITVATFNTT LASFNVGYAD FFNEHMRKLC 
       610        620        630        640        650
NQVPIPEMPH EPLACANLPR SLTDSCINYS YLEDTEHIDG TNNFVHKNGM 
       660        670        680        690        700
LDLSVVLKAV YLVLNHDISS RICDVALNIV ECLLQLGVVP CVEKNRKKSE 
       710        720        730        740        750
NKENETLEKR PSEGAFQFKG VSGSSTCGFG GPAVSGAGDG GGEEGGGGDG 
       760        770        780        790        800
GGGGGDGGGG GGGGGGPYEK NDKNQEKDES TPVSNHRLAL TMLIKIVKSL 
       810        820        830        840        850
GCAYGCGEGH RGLSGDRLRH QVFRENAQNC LTKLYKLDKM QFRQTMRDYV 
       860        870        880        890        900
NKDSLNNVVD FLHALLGFCM EPVTDNKAGF GNNFTTVDNK STAQNVEGII 
       910        920        930        940        950
VSAMFKSLIT RCASTTHELH SPENLGLYCD IRQLVQFIKE AHGNVFRRVA 
       960        970        980        990       1000
LSALLDSAEK LAPGKKVEEN EQESKPAGSK RSEAGSIVDK GQVSSAPEEC 
      1010       1020       1030       1040       1050
RSFMSGRPSQ TPEHDEQMQG ANLGRKDFWR KMFKSQSAAS DTSSQSEQDT 
      1060       1070       1080       1090       1100
SECTTAHSGT TSDRRARSRS RRISLRKKLK LPIGKRNWLK RSSLSGLADG 
      1110       1120       1130       1140       1150
VEDLLDISSV DRLSFIRQSS KVKFTSAVKL SEGGPGSGME NGRDEEENFF 
      1160       1170       1180       1190       1200
KRLGCHSFDD HLSPNQDGGK SKNVVNLGAI RQGMKRFQFL LNCCEPGTIP 
      1210       1220       1230       1240       1250
DASILAAALD LEAPVVARAA LFLECARFVH RCNRGNWPEW MKGHHVNITK 
      1260       1270       1280       1290       1300
KGLSRGRSPI VGNKRNQKLQ WNAAKLFYQW GDAIGVRLNE LCHGESESPA 
      1310       1320       1330       1340       1350
NLLGLIYDEE TKRRLRKEDE EEDFLDDSTV NPSKCGCPFA LKMAACQLLL 
      1360       1370       1380       1390       1400
EITTFLRETF SCLPRPRTEP LVDLESCRLR LDPELDRHRY ERKISFAGVL 
      1410       1420       1430       1440       1450
DENEDSKDSL HSSSHTLKSD AGVEEKKEGS PWSASEPSIE PEGMSNAGAE 
      1460       1470       1480       1490       1500
ENYHRNMSWL HVMILLCNQQ SFICTHVDYC HPHCYLHHSR SCARLVRAIK 
      1510       1520       1530       1540       1550
LLYGDSVDSL RESSNISSVA LRGKKQKECS DKSCLRTPSL KKRVSDANLE 
      1560       1570       1580       1590       1600
GKKDSGMLKY IRLQVMSLSP APLSLLIKAA PILTEEMYGD IQPAAWELLL 
      1610       1620       1630       1640       1650
SMDEHMAGAA AAMFLLCAVK VPEAVSDMLM SEFHHPETVQ RLNAVLKFHT 
      1660       1670       1680       1690       1700
LWRFRYQVWP RMEEGAQQIF KIPPPSINFT LPSPVLGMPS VPMFDPPWVP 
      1710       1720       1730       1740       1750
QCSGSVQDPI NEDQSKSFSA RAVSRSHQRA EHILKNLQQE EEKKRLGREA 
      1760       1770       1780       1790       1800
SLITAIPITQ EACYEPTCTP NSEPEEEVEE VTNLASRRLS VSPSCTSSTS 
      1810       1820       1830       1840       1850
HRNYSFRRGS VWSVRSAVSA EDEEHTTEHT PNHHVPQPPQ AVFPACICAA 
      1860       1870       1880       1890       1900
VLPIVHLMED GEVREDGVAV SAVAQQVLWN CLIEDPSTVL RHFLEKLTIS 
      1910       1920       1930       1940       1950
NRQDELMYML RKLLLNIGDF PAQTSHILFN YLVGLIMYFV RTPCEWGMDA 
      1960       1970       1980       1990       2000
ISATLTFLWE VVGYVEGLFF KDLKQTMKKE QCEVKLLVTA SMPGTKTLVV 
      2010       2020       2030       2040       2050
HGQNECDIPT QLPVHEDTQF EALLKECLEF FNIPESQSTH YFLMDKRWNL 
      2060       2070       2080       2090       2100
IHYNKTYVRD IYPFRRSVSP QLNLVHMHPE KGQELIQKQV FTRKLEEVGR 
      2110       2120       2130       2140       2150
VLFLISLTQK IPTAHKQSHV SMLQEDLLRL PSFPRSAIDA EFSLFSDPQA 
      2160       2170       2180       2190       2200
GKELFGLDTL QKSLWIQLLE EMFLGMPSEF PWGDEIMLFL NVFNGALILH 
      2210       2220       2230       2240       2250
PEDSALLRQY AATVINTAVH FNHLFSLSGY QWILPTMLQV YSDYESNPQL 
      2260       2270       2280       2290       2300
RQAIEFACHQ FYILHRKPFV LQLFASVAPL LEFPDAANNG PSKGVSAQCL 
      2310       2320       2330       2340       2350
FDLLQSLEGE TTDILDILEL VKAEKPLKSL DFCYGNEDLT FSISEAIKLC 
      2360       2370       2380       2390       2400
VTVVAYAPES FRSLQMLMVL EALVPCYLQK LKRQTSQVET VPAAREEIAA 
      2410       2420       2430       2440       2450
TAALATSLQA LLYSVEVLTR PMTAPQMSRC DQGHKGTTTA NHTMSSGVNT 
      2460       2470       2480       2490       2500
RYQEQGAKLH FIRENLHLLE EGQGIPREEL DERIAREEFR RPRESLLNIC 
      2510       2520       2530       2540       2550
TEFYKHCGPR LKILQNLAGE PRVIALELLD VKSHMRLAEI AHSLLKLAPY 
      2560       2570       2580       2590       2600
DTQTMESRGL RRYIMEMLPI TDWTAEAVRP ALILILKRLD RMFNKIHKMP 
      2610       2620       2630       2640       2650
TLRRQVEWEP ASNLIEGVCL TLQRQPIISF LPHLRSLINV CVNLVMGVVG 
      2660       2670       2680       2690       2700
PSSVADGLPL LHLSPYLSPP LPFSTAVVRL VALQIQALKE DFPLSHVISP 
      2710       2720       2730       2740       2750
FTNQERREGM LLNLLIPFVL TVGSGSKDSP WLEQPEVQLL LQTVINVLLP 
      2760       2770       2780       2790       2800
PRIISTSRSK NFMLESSPAH CSTPGDAGKD LRREGLAEST SQAAYLALKV 
      2810       2820       2830       2840       2850
ILVCFERQLG SQWYWLSLQV KEMALRKVGG LALWDFLDFI VRTRIPIFVL 
      2860       2870       2880       2890       2900
LRPFIQCKLL AQPAENHEEL SARQHIADQL ERRFIPRPLC KSSLIAEFNS 
      2910       2920       2930       2940       2950
ELKILKEAVH SGSAYQGKTS ISTVGTSTSA YRLSLATMSR SNTGTGTVWE 
      2960       2970       2980       2990       3000
QDSEPSQQAS QDTLSRTDEE DEENDSISMP SVVSEQEAYL LSAIGRRRFS 
      3010       3020       3030       3040       3050
SHVSSMSVPQ AEVGMLPSQS EPNVLDDSQG LAAEGSLSRV ASIQSEPGQQ 
      3060       3070       3080       3090       3100
NLLVQQPLGR KRGLRQLRRP LLSRQKTQTE PRNRQGARLS TTRRSIQPKT 
      3110       3120       3130       3140       3150
KPSADQKRSV TFIEAQPEPA AAPTDALPAT GQLQGCSPAP SRKPEAMDEP 
      3160       3170       3180       3190       3200
VLTSSPAIVV ADLHSVSPKQ SENFPTEEGE KEEDTEAQGA TAHSPLSAQL 
      3210       3220       3230       3240       3250
SDPDDFTGLE TSSLLQHGDT VLHISEENGM ENPLLSSQFT FTPTELGKTD 

AVLDESHV
Length:3,258
Mass (Da):363,390
Last modified:March 24, 2009 - v2
<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:i5C1A4EA11D2B85F0
GO
Isoform 2 (identifier: Q8N2C7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2604-3258: Missing.

Show »
Length:2,603
Mass (Da):291,644
Checksum:iE75AC72E658094AB
GO
Isoform 3 (identifier: Q8N2C7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     314-320: ASLVIPP → STFHFPP
     321-3258: Missing.

Show »
Length:320
Mass (Da):35,580
Checksum:i987560D2A349BADE
GO
Isoform 4 (identifier: Q8N2C7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3020-3020: S → R
     3021-3258: Missing.

Show »
Length:3,020
Mass (Da):337,850
Checksum:i7F659EFA9DE62263
GO
Isoform 5 (identifier: Q8N2C7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2554: Missing.
     3020-3038: Missing.

Show »
Length:685
Mass (Da):75,802
Checksum:i7D72A41CEB22CCFB
GO
Isoform 6 (identifier: Q8N2C7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2554: Missing.
     3020-3020: S → R
     3021-3258: Missing.

Show »
Length:466
Mass (Da):52,132
Checksum:iD67D28B49D151A87
GO
Isoform 7 (identifier: Q8N2C7-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     822-826: Missing.
     3020-3038: Missing.

Show »
Length:3,234
Mass (Da):360,874
Checksum:i3BDF078B5C36C533
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A669KAW8A0A669KAW8_HUMAN
Protein unc-80 homolog
UNC80
3,256Annotation 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>
A0A669KBC5A0A669KBC5_HUMAN
Protein unc-80 homolog
UNC80
3,324Annotation 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>
H3BLU5H3BLU5_HUMAN
Protein unc-80 homolog
UNC80
546Annotation 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>

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 conflicti185V → A in BAC03521 (PubMed:14702039).Curated1
Sequence conflicti272C → R in BAC03521 (PubMed:14702039).Curated1
Sequence conflicti826N → Q in BAB47472 (PubMed:11347906).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033656131R → W. Corresponds to variant dbSNP:rs35822936EnsemblClinVar.1
Natural variantiVAR_075874189V → M in IHPRF2. 1 PublicationCorresponds to variant dbSNP:rs864321623EnsemblClinVar.1
Natural variantiVAR_0601961505D → G. Corresponds to variant dbSNP:rs4673492Ensembl.1
Natural variantiVAR_0758751700P → S in IHPRF2. 1 PublicationCorresponds to variant dbSNP:rs869025316EnsemblClinVar.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_0367411 – 2554Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST2554
Alternative sequenceiVSP_036742314 – 320ASLVIPP → STFHFPP in isoform 3. 2 Publications7
Alternative sequenceiVSP_036743321 – 3258Missing in isoform 3. 2 PublicationsAdd BLAST2938
Alternative sequenceiVSP_054289822 – 826Missing in isoform 7. Curated5
Alternative sequenceiVSP_0315282604 – 3258Missing in isoform 2. 1 PublicationAdd BLAST655
Alternative sequenceiVSP_0367443020 – 3038Missing in isoform 5 and isoform 7. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0367453020S → R in isoform 4 and isoform 6. 1 Publication1
Alternative sequenceiVSP_0367463021 – 3258Missing in isoform 4 and isoform 6. 1 PublicationAdd BLAST238

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
AK027583 mRNA Translation: BAB55211.1
AK090815 mRNA Translation: BAC03521.1
AK299022 mRNA Translation: BAG61101.1
AK302830 mRNA Translation: BAG64025.1
AC006385 Genomic DNA No translation available.
AC006464 Genomic DNA No translation available.
AC007038 Genomic DNA No translation available.
CH471063 Genomic DNA Translation: EAW70468.1
BC136690 mRNA Translation: AAI36691.1
BC136693 mRNA Translation: AAI36694.1
AB058746 mRNA Translation: BAB47472.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2387.2 [Q8N2C7-7]
CCDS46504.1 [Q8N2C7-1]

NCBI Reference Sequences

More...RefSeqi		NP_115893.1, NM_032504.1 [Q8N2C7-1]
NP_872393.3, NM_182587.3 [Q8N2C7-7]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000272845; ENSP00000272845; ENSG00000144406 [Q8N2C7-7]
ENST00000439458; ENSP00000391088; ENSG00000144406 [Q8N2C7-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		285175

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:285175

UCSC genome browser

More...UCSCi		uc010zjc.1, human [Q8N2C7-1]

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
AK027583 mRNA Translation: BAB55211.1
AK090815 mRNA Translation: BAC03521.1
AK299022 mRNA Translation: BAG61101.1
AK302830 mRNA Translation: BAG64025.1
AC006385 Genomic DNA No translation available.
AC006464 Genomic DNA No translation available.
AC007038 Genomic DNA No translation available.
CH471063 Genomic DNA Translation: EAW70468.1
BC136690 mRNA Translation: AAI36691.1
BC136693 mRNA Translation: AAI36694.1
AB058746 mRNA Translation: BAB47472.2
CCDSiCCDS2387.2 [Q8N2C7-7]
CCDS46504.1 [Q8N2C7-1]
RefSeqiNP_115893.1, NM_032504.1 [Q8N2C7-1]
NP_872393.3, NM_182587.3 [Q8N2C7-7]

3D structure databases

SMRiQ8N2C7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi130032, 6 interactors
IntActiQ8N2C7, 5 interactors
MINTiQ8N2C7
STRINGi9606.ENSP00000391088

Protein family/group databases

TCDBi1.A.1.11.15, the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiQ8N2C7
PhosphoSitePlusiQ8N2C7

Genetic variation databases

BioMutaiUNC80
DMDMi226698393

Proteomic databases

EPDiQ8N2C7
MassIVEiQ8N2C7
PaxDbiQ8N2C7
PeptideAtlasiQ8N2C7
PRIDEiQ8N2C7
ProteomicsDBi71677 [Q8N2C7-1]
71678 [Q8N2C7-2]
71679 [Q8N2C7-3]
71680 [Q8N2C7-4]
71681 [Q8N2C7-5]
71682 [Q8N2C7-6]
8128

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		52283, 64 antibodies

The DNASU plasmid repository

More...DNASUi		285175

Genome annotation databases

EnsembliENST00000272845; ENSP00000272845; ENSG00000144406 [Q8N2C7-7]
ENST00000439458; ENSP00000391088; ENSG00000144406 [Q8N2C7-1]
GeneIDi285175
KEGGihsa:285175
UCSCiuc010zjc.1, human [Q8N2C7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		285175
DisGeNETi285175

GeneCards: human genes, protein and diseases

More...GeneCardsi		UNC80
GeneReviewsiUNC80
HGNCiHGNC:26582, UNC80
HPAiENSG00000144406, Group enriched (adrenal gland, brain, pituitary gland, testis)
MalaCardsiUNC80
MIMi612636, gene
616801, phenotype
neXtProtiNX_Q8N2C7
OpenTargetsiENSG00000144406
Orphaneti371364, Hypotonia-speech impairment-severe cognitive delay syndrome
PharmGKBiPA165697705
VEuPathDBiHostDB:ENSG00000144406.18

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QSTP, Eukaryota
GeneTreeiENSGT00640000091496
HOGENOMiCLU_000495_1_0_1
InParanoidiQ8N2C7
OMAiFYQWAEA
OrthoDBi82175at2759
PhylomeDBiQ8N2C7
TreeFamiTF313531

Enzyme and pathway databases

PathwayCommonsiQ8N2C7
ReactomeiR-HSA-2672351, Stimuli-sensing channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		285175, 4 hits in 863 CRISPR screens

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

More...ChiTaRSi		UNC80, human

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

More...GenomeRNAii		285175
PharosiQ8N2C7, Tdark

Protein Ontology

More...PROi		PR:Q8N2C7
RNActiQ8N2C7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000144406, Expressed in cerebellar vermis and 120 other tissues
ExpressionAtlasiQ8N2C7, baseline and differential
GenevisibleiQ8N2C7, HS

Family and domain databases

InterProiView protein in InterPro
IPR031542, UNC80_N
PfamiView protein in Pfam
PF15778, UNC80, 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 nameiUNC80_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: Q8N2C7
Secondary accession number(s): B2RN50
, B4DQY9, B4DZB3, C4IXS8, C9J1U3, Q96JI4, Q96SS0
<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: August 16, 2005
Last sequence update: March 24, 2009
Last modified: February 10, 2021
This is version 125 of the entry and version 2 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

Reference proteome

Documents

  1. Human entries with genetic variants
    List of human entries with genetic variants
  2. Human variants curated from literature reports
    Index of human variants curated from literature reports
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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