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UniProtKB - Q8N2C7 (UNC80_HUMAN)

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Protein

Protein unc-80 homolog

Gene

UNC80

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Names & Taxonomyi

Protein namesi
Recommended name:
Protein unc-80 homolog
Gene namesi
Name:UNC80
Synonyms:C2orf21, KIAA1843
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000144406.18
HGNCiHGNC:26582 UNC80
MIMi612636 gene
neXtProtiNX_Q8N2C7

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei2268 – 2288HelicalSequence analysisAdd BLAST21
Transmembranei2398 – 2418HelicalSequence analysisAdd BLAST21
Transmembranei2785 – 2805HelicalSequence analysisAdd BLAST21
Transmembranei2831 – 2851HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2)3 Publications
The disease is caused by mutations 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.
See also OMIM:616801
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 mutation, Neurodegeneration

Organism-specific databases

DisGeNETi285175
MalaCardsiUNC80
MIMi616801 phenotype
OpenTargetsiENSG00000144406
PharmGKBiPA165697705

Polymorphism and mutation databases

BioMutaiUNC80
DMDMi226698393

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000893481 – 3258Protein unc-80 homologAdd BLAST3258

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei257PhosphoserineBy similarity1
Modified residuei525PhosphoserineBy similarity1
Modified residuei3042PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated on tyrosine residues.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ8N2C7
PhosphoSitePlusiQ8N2C7

Expressioni

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

BgeeiENSG00000144406
CleanExiHS_C2orf21
ExpressionAtlasiQ8N2C7 baseline and differential
GenevisibleiQ8N2C7 HS

Organism-specific databases

HPAiHPA042472

Interactioni

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

BioGridi130032, 6 interactors
IntActiQ8N2C7, 3 interactors
MINTiQ8N2C7
STRINGi9606.ENSP00000391088

Structurei

3D structure databases

ProteinModelPortaliQ8N2C7
SMRiQ8N2C7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi720 – 766Gly-richAdd BLAST47

Sequence similaritiesi

Belongs to the unc-80 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IESD Eukaryota
ENOG410XSBM LUCA
GeneTreeiENSGT00640000091496
HOGENOMiHOG000154784
HOVERGENiHBG108650
InParanoidiQ8N2C7
OMAiSEGAFQF
OrthoDBiEOG091G001M
PhylomeDBiQ8N2C7
TreeFamiTF313531

Family and domain databases

InterProiView protein in InterPro
IPR031542 UNC80_N
PfamiView protein in Pfam
PF15778 UNC80, 1 hit

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N2C7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs35822936Ensembl.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
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:
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]
UniGeneiHs.396201

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiUNC80_HUMAN
AccessioniPrimary (citable) accession number: Q8N2C7
Secondary accession number(s): B2RN50
, B4DQY9, B4DZB3, C4IXS8, C9J1U3, Q96JI4, Q96SS0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: March 24, 2009
Last modified: June 20, 2018
This is version 109 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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