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UniProtKB - Q9P2D8 (UNC79_HUMAN)

Entry version 118 (07 Apr 2021)
Sequence version 4 (13 Nov 2013)
Previous versions | rss
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Protein

Protein unc-79 homolog

Gene

UNC79

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

Annotation score:3 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, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability.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 - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9P2D8

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-79 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:UNC79
Synonyms:KIAA1409
<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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:19966, UNC79

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9P2D8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000133958.13

<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

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>Transmembranei2223 – 2243HelicalSequence analysisAdd BLAST21
Transmembranei2466 – 2486HelicalSequence 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

Organism-specific databases

DisGeNET

More...DisGeNETi		57578

Open Targets

More...OpenTargetsi		ENSG00000133958

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134994003

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9P2D8, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		UNC79

Domain mapping of disease mutations (DMDM)

More...DMDMi		557952608

<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_00003156181 – 2635Protein unc-79 homologAdd BLAST2635

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 residuei754PhosphoserineBy similarity1
Modified residuei758PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9P2D8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9P2D8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9P2D8

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

More...PaxDbi		Q9P2D8

PeptideAtlas

More...PeptideAtlasi		Q9P2D8

PRoteomics IDEntifications database

More...PRIDEi		Q9P2D8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		6182
83787 [Q9P2D8-1]
83788 [Q9P2D8-2]
83789 [Q9P2D8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9P2D8

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

More...PhosphoSitePlusi		Q9P2D8

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000133958, Expressed in right hemisphere of cerebellum and 99 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9P2D8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9P2D8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000133958, Tissue enhanced (brain, pituitary gland)

<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.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121631, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q9P2D8, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000256339

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9P2D8, protein

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

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

Belongs to the unc-79 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3685, Eukaryota
KOG4820, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000011802

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9P2D8

Identification of Orthologs from Complete Genome Data

More...OMAi		KKFSYQQ

Database of Orthologous Groups

More...OrthoDBi		81334at2759

TreeFam database of animal gene trees

More...TreeFami		TF313437

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016024, ARM-type_fold
IPR024855, UNC79

The PANTHER Classification System

More...PANTHERi		PTHR21696, PTHR21696, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371, SSF48371, 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. 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 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2D8-1) [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
MSTKAEQFAS KIRYLQEYHN RVLHNIYPVP SGTDIANTLK YFSQTLLSIL 
        60         70         80         90        100
SRTGKKENQD ASNLTVPMTM CLFPVPFPLT PSLRPQVSSI NPTVTRSLLY 
       110        120        130        140        150
SVLRDAPSER GPQSRDAQLS DYPSLDYQGL YVTLVTLLDL VPLLQHGQHD 
       160        170        180        190        200
LGQSIFYTTT CLLPFLNDDI LSTLPYTMIS TLATFPPFLH KDIIEYLSTS 
       210        220        230        240        250
FLPMAILGSS RREGVPAHVN LSASSMLMIA MQYTSNPVYH CQLLECLMKY 
       260        270        280        290        300
KQEVWKDLLY VIAYGPSQVK PPAVQMLFHY WPNLKPPGAI SEYRGLQYTA 
       310        320        330        340        350
WNPIHCQHIE CHNAINKPAV KMCIDPSLSV ALGDKPPPLY LCEECSERIA 
       360        370        380        390        400
GDHSEWLIDV LLPQAEISAI CQKKNCSSHV RRAVVTCFSA GCCGRHGNRP 
       410        420        430        440        450
VRYCKRCHSN HHSNEVGAAA ETHLYQTSPP PINTRECGAE ELVCAVEAVI 
       460        470        480        490        500
SLLKEAEFHA EQREHELNRR RQLGLSSSHH SLDNADFDNK DDDKHDQRLL 
       510        520        530        540        550
SQFGIWFLVS LCTPSENTPT ESLARLVAMV FQWFHSTAYM MDDEVGSLVE 
       560        570        580        590        600
KLKPQFVTKW LKTVCDVRFD VMVMCLLPKP MEFARVGGYW DKSCSTVTQL 
       610        620        630        640        650
KEGLNRILCL IPYNVINQSV WECIMPEWLE AIRTEVPDNQ LKEFREVLSK 
       660        670        680        690        700
MFDIELCPLP FSMEEMFGFI SCRFTGYPSS VQEQALLWLH VLSELDIMVP 
       710        720        730        740        750
LQLLISMFSD GVNSVKELAN QRKSRVSELA GNLASRRVSV ASDPGRRVQH 
       760        770        780        790        800
NMLSPFHSPF QSPFRSPLRS PFRSPFKNFG HPGGRTIDFD CEDDEMNLNC 
       810        820        830        840        850
FILMFDLLLK QMELQDDGIT MGLEHSLSKD IISIINNVFQ APWGGSHTCQ 
       860        870        880        890        900
KDEKAIECNL CQSSILCYQL ACELLERLAP KEESRLVEPT DSLEDSLLSS 
       910        920        930        940        950
RPEFIIGPEG EEEENPASKH GENPGNCTEP VEHAAVKNDT ERKFCYQQLP 
       960        970        980        990       1000
VTLRLIYTIF QEMAKFEEPD ILFNMLNCLK ILCLHGECLY IARKDHPQFL 
      1010       1020       1030       1040       1050
AYIQDHMLIA SLWRVVKSEF SQLSSLAVPL LLHALSLPHG ADIFWTIING 
      1060       1070       1080       1090       1100
NFNSKDWKMR FEAVEKVAVI CRFLDIHSVT KNHLLKYSLA HAFCCFLTAV 
      1110       1120       1130       1140       1150
EDVNPAVATR AGLLLDTIKR PALQGLCLCL DFQFDTVVKD RPTILSKLLL 
      1160       1170       1180       1190       1200
LHFLKQDIPA LSWEFFVNRF ETLSLEAQLH LDCNKEFPFP TTITAVRTNV 
      1210       1220       1230       1240       1250
ANLSDAALWK IKRARFARNR QKSVRSLRDS VKGPVESKRA LSLPETLTSK 
      1260       1270       1280       1290       1300
IRQQSPENDN TIKDLLPEDA GIDHQTVHQL ITVLMKFMAK DESSAESDIS 
      1310       1320       1330       1340       1350
SAKAFNTVKR HLYVLLGYDQ QEGCFMIAPQ KMRLSTCFNA FIAGIAQVMD 
      1360       1370       1380       1390       1400
YNINLGKHLL PLVVQVLKYC SCPQLRHYFQ QPPRCSLWSL KPHIRQMWLK 
      1410       1420       1430       1440       1450
ALLVILYKYP YRDCDISKIL LHLIHITVNT LNAQYHSCKP HATAGPLYSD 
      1460       1470       1480       1490       1500
NSNISRYSEK EKGEIELAEY RETGALQDSL LHCVREESIP KKKLRSFKQK 
      1510       1520       1530       1540       1550
SLDIGNADSL LFTLDEHRRK SCIDRCDIEK PPTQAAYIAQ RPNDPGRSRQ 
      1560       1570       1580       1590       1600
NSATRPDNSE IPENPAMEGF PDARRPVIPE VRLNCMETFE VKVDSPVKPA 
      1610       1620       1630       1640       1650
PKEDLDLIDL SSDSTSGPEK HSILSTSDSD SLVFEPLPPL RIVESDEEEE 
      1660       1670       1680       1690       1700
TMNQGDDGPS GKNAASSPSV PSHPSVLSLS TAPLVQVSVE DCSKDFSSKD 
      1710       1720       1730       1740       1750
SGNNQSAGNT DSALITLEDP MDAEGSSKPE ELPEFSCGSP LTLKQKRDLL 
      1760       1770       1780       1790       1800
QKSFALPEMS LDDHPDPGTE GEKPGELMPS SGAKTVLLKV PEDAENPTES 
      1810       1820       1830       1840       1850
EKPDTSAESD TEQNPERKVE EDGAEESEFK IQIVPRQRKQ RKIAVSAIQR 
      1860       1870       1880       1890       1900
EYLDISFNIL DKLGEQKDPD PSTKGLSTLE MPRESSSAPT LDAGVPETSS 
      1910       1920       1930       1940       1950
HSSISTQYRQ MKRGSLGVLT MSQLMKRQLE HQSSAPHNIS NWDTEQIQPG 
      1960       1970       1980       1990       2000
KRQCNVPTCL NPDLEGQPLR MRGATKSSLL SAPSIVSMFV PAPEEFTDEQ 
      2010       2020       2030       2040       2050
PTVMTDKCHD CGAILEEYDE ETLGLAIVVL STFIHLSPDL AAPLLLDIMQ 
      2060       2070       2080       2090       2100
SVGRLASSTT FSNQAESMMV PGNAAGVAKQ FLRCIFHQLA PNGIFPQLFQ 
      2110       2120       2130       2140       2150
STIKDGTFLR TLASSLMDFN ELSSIAALSQ LLEGLNNKKN LPAGGAMIRC 
      2160       2170       2180       2190       2200
LENIATFMEA LPMDSPSSLW TTISNQFQTF FAKLPCVLPL KCSLDSSLRI 
      2210       2220       2230       2240       2250
MICLLKIPST NATRSLLEPF SKLLSFVIQN AVFTLAYLVE LCGLCYRAFT 
      2260       2270       2280       2290       2300
KERDKFYLSR SVVLELLQAL KLKSPLPDTN LLLLVQFICA DAGTKLAEST 
      2310       2320       2330       2340       2350
ILSKQMIASV PGCGTAAMEC VRQYINEVLD FMADMHTLTK LKSHMKTCSQ 
      2360       2370       2380       2390       2400
PLHEDTFGGH LKVGLAQIAA MDISRGNHRD NKAVIRYLPW LYHPPSAMQQ 
      2410       2420       2430       2440       2450
GPKEFIECVS HIRLLSWLLL GSLTHNAVCP NASSPCLPIP LDAGSHVADH 
      2460       2470       2480       2490       2500
LIVILIGFPE QSKTSVLHMC SLFHAFIFAQ LWTVYCEQSA VATNLQNQNE 
      2510       2520       2530       2540       2550
FSFTAILTAL EFWSRVTPSI LQLMAHNKVM VEMVCLHVIS LMEALQECNS 
      2560       2570       2580       2590       2600
TIFVKLIPMW LPMIQSNIKH LSAGLQLRLQ AIQNHVNHHS LRTLPGSGQS 
      2610       2620       2630 
SAGLAALRKW LQCTQFKMAQ VEIQSSEAAS QFYPL
Length:2,635
Mass (Da):295,326
Last modified:November 13, 2013 - 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:i6ECB232BE0A4EA71
GO
Isoform 2 (identifier: Q9P2D8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-177: Missing.

Show »
Length:2,458
Mass (Da):275,434
Checksum:i94C1646AB515FC81
GO
Isoform 3 (identifier: Q9P2D8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1252-1252: R → PMRLTRHEQSAPALGGTPEQTPG

Show »
Length:2,657
Mass (Da):297,584
Checksum:iB8D0D5597258559D
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V2U4G3V2U4_HUMAN
Protein unc-79 homolog
UNC79
2,596Annotation 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 conflicti494K → R in BAC86131 (PubMed:14702039).Curated1
Sequence conflicti1284L → P in BAC86131 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0382601597V → A. Corresponds to variant dbSNP:rs28670114Ensembl.1
Natural variantiVAR_0382611670V → I1 PublicationCorresponds to variant dbSNP:rs4905081Ensembl.1
Natural variantiVAR_0382622183K → R. Corresponds to variant dbSNP:rs2296687Ensembl.1
Natural variantiVAR_0382632444G → S. Corresponds to variant dbSNP:rs7359096Ensembl.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_0305831 – 177Missing in isoform 2. 1 PublicationAdd BLAST177
Alternative sequenceiVSP_0305841252R → PMRLTRHEQSAPALGGTPEQ TPG in isoform 3. 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
AL122023 Genomic DNA No translation available.
AL136338 Genomic DNA No translation available.
AL157858 Genomic DNA No translation available.
AK125327 mRNA Translation: BAC86131.1
AB037830 mRNA Translation: BAA92647.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9911.2 [Q9P2D8-2]

NCBI Reference Sequences

More...RefSeqi		NP_065869.3, NM_020818.4 [Q9P2D8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000256339; ENSP00000256339; ENSG00000133958 [Q9P2D8-2]
ENST00000393151; ENSP00000376858; ENSG00000133958 [Q9P2D8-1]
ENST00000553484; ENSP00000451360; ENSG00000133958 [Q9P2D8-3]
ENST00000615108; ENSP00000479521; ENSG00000276416 [Q9P2D8-2]
ENST00000621021; ENSP00000480937; ENSG00000133958 [Q9P2D8-2]
ENST00000627404; ENSP00000487436; ENSG00000276416 [Q9P2D8-1]
ENST00000627695; ENSP00000485969; ENSG00000276416 [Q9P2D8-2]
ENST00000629588; ENSP00000486167; ENSG00000276416 [Q9P2D8-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57578

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57578

UCSC genome browser

More...UCSCi		uc001ybs.2, human [Q9P2D8-1]

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
AL122023 Genomic DNA No translation available.
AL136338 Genomic DNA No translation available.
AL157858 Genomic DNA No translation available.
AK125327 mRNA Translation: BAC86131.1
AB037830 mRNA Translation: BAA92647.2
CCDSiCCDS9911.2 [Q9P2D8-2]
RefSeqiNP_065869.3, NM_020818.4 [Q9P2D8-2]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi121631, 7 interactors
IntActiQ9P2D8, 3 interactors
STRINGi9606.ENSP00000256339

Protein family/group databases

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

PTM databases

iPTMnetiQ9P2D8
PhosphoSitePlusiQ9P2D8

Genetic variation databases

BioMutaiUNC79
DMDMi557952608

Proteomic databases

EPDiQ9P2D8
jPOSTiQ9P2D8
MassIVEiQ9P2D8
PaxDbiQ9P2D8
PeptideAtlasiQ9P2D8
PRIDEiQ9P2D8
ProteomicsDBi6182
83787 [Q9P2D8-1]
83788 [Q9P2D8-2]
83789 [Q9P2D8-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		77841, 28 antibodies

Genome annotation databases

EnsembliENST00000256339; ENSP00000256339; ENSG00000133958 [Q9P2D8-2]
ENST00000393151; ENSP00000376858; ENSG00000133958 [Q9P2D8-1]
ENST00000553484; ENSP00000451360; ENSG00000133958 [Q9P2D8-3]
ENST00000615108; ENSP00000479521; ENSG00000276416 [Q9P2D8-2]
ENST00000621021; ENSP00000480937; ENSG00000133958 [Q9P2D8-2]
ENST00000627404; ENSP00000487436; ENSG00000276416 [Q9P2D8-1]
ENST00000627695; ENSP00000485969; ENSG00000276416 [Q9P2D8-2]
ENST00000629588; ENSP00000486167; ENSG00000276416 [Q9P2D8-3]
GeneIDi57578
KEGGihsa:57578
UCSCiuc001ybs.2, human [Q9P2D8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57578
DisGeNETi57578

GeneCards: human genes, protein and diseases

More...GeneCardsi		UNC79
HGNCiHGNC:19966, UNC79
HPAiENSG00000133958, Tissue enhanced (brain, pituitary gland)
neXtProtiNX_Q9P2D8
OpenTargetsiENSG00000133958
PharmGKBiPA134994003
VEuPathDBiHostDB:ENSG00000133958.13

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3685, Eukaryota
KOG4820, Eukaryota
GeneTreeiENSGT00390000011802
InParanoidiQ9P2D8
OMAiKKFSYQQ
OrthoDBi81334at2759
TreeFamiTF313437

Enzyme and pathway databases

PathwayCommonsiQ9P2D8
ReactomeiR-HSA-2672351, Stimuli-sensing channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		57578, 17 hits in 988 CRISPR screens

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

More...ChiTaRSi		UNC79, human

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

More...GenomeRNAii		57578
PharosiQ9P2D8, Tdark

Protein Ontology

More...PROi		PR:Q9P2D8
RNActiQ9P2D8, protein

Gene expression databases

BgeeiENSG00000133958, Expressed in right hemisphere of cerebellum and 99 other tissues
ExpressionAtlasiQ9P2D8, baseline and differential
GenevisibleiQ9P2D8, HS

Family and domain databases

InterProiView protein in InterPro
IPR016024, ARM-type_fold
IPR024855, UNC79
PANTHERiPTHR21696, PTHR21696, 1 hit
SUPFAMiSSF48371, SSF48371, 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 nameiUNC79_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: Q9P2D8
Secondary accession number(s): B5MDL6, Q6ZUT7
<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: January 15, 2008
Last sequence update: November 13, 2013
Last modified: April 7, 2021
This is version 118 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

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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. SIMILARITY comments
    Index of protein domains and families
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