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Entry version 110 (16 Oct 2019)
Sequence version 4 (13 Nov 2013)
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Protein

Protein unc-79 homolog

Gene

UNC79

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

Annotation score:4 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

Enzyme and pathway databases

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_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein unc-79 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:UNC79
Synonyms:KIAA1409
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19966 UNC79

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P2D8

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

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

Polymorphism and mutation 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.<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

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 77 organ(s), highest expression level in right hemisphere of cerebellum

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
HPA071881

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

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

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, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q9P2D8, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000256339

<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
ENOG410XSPU LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000011802

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000074168

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

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

This entry describes 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 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
Note: Gene prediction based on EST data.
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.

Note: No experimental confirmation available.
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

Note: No experimental confirmation available.
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

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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

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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

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GeneIDi
57578

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57578

UCSC genome browser

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UCSCi
uc001ybs.2 human [Q9P2D8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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

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ModBasei
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SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi121631, 5 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

Polymorphism and mutation databases

BioMutaiUNC79
DMDMi557952608

Proteomic databases

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

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

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CTDi
57578
DisGeNETi57578

GeneCards: human genes, protein and diseases

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GeneCardsi
UNC79
HGNCiHGNC:19966 UNC79
HPAiHPA071881
neXtProtiNX_Q9P2D8
OpenTargetsiENSG00000133958
PharmGKBiPA134994003

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3685 Eukaryota
KOG4820 Eukaryota
ENOG410XSPU LUCA
GeneTreeiENSGT00390000011802
HOGENOMiHOG000074168
InParanoidiQ9P2D8
OMAiKKFSYQQ
OrthoDBi81334at2759
TreeFamiTF313437

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

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

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ChiTaRSi
UNC79 human

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

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GenomeRNAii
57578
PharosiQ9P2D8

Protein Ontology

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PROi
PR:Q9P2D8

Gene expression databases

BgeeiENSG00000133958 Expressed in 77 organ(s), highest expression level in right hemisphere of cerebellum
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

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 13, 2013
Last modified: October 16, 2019
This is version 110 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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