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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-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

Complete GO annotation...

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:26582. UNC80.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei2268 – 228821HelicalSequence analysisAdd
BLAST
Transmembranei2398 – 241821HelicalSequence analysisAdd
BLAST
Transmembranei2785 – 280521HelicalSequence analysisAdd
BLAST
Transmembranei2831 – 285121HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti189 – 1891V → M in IHPRF2. 1 Publication
VAR_075874
Natural varianti1700 – 17001P → S in IHPRF2. 1 Publication
VAR_075875

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

MIMi616801. phenotype.
PharmGKBiPA165697705.

Polymorphism and mutation databases

BioMutaiUNC80.
DMDMi226698393.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 32583258Protein unc-80 homologPRO_0000089348Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei257 – 2571PhosphoserineBy similarity
Modified residuei525 – 5251PhosphoserineBy similarity
Modified residuei3042 – 30421PhosphoserineBy similarity

Post-translational modificationi

Phosphorylated on tyrosine residues.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N2C7.
PaxDbiQ8N2C7.
PeptideAtlasiQ8N2C7.
PRIDEiQ8N2C7.

PTM databases

iPTMnetiQ8N2C7.
PhosphoSiteiQ8N2C7.

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

BgeeiQ8N2C7.
CleanExiHS_C2orf21.
ExpressionAtlasiQ8N2C7. baseline and differential.
GenevisibleiQ8N2C7. HS.

Organism-specific databases

HPAiHPA042472.

Interactioni

Subunit structurei

Interacts with NALCN and UNC79.By similarity

Protein-protein interaction databases

BioGridi130032. 5 interactions.
IntActiQ8N2C7. 3 interactions.
STRINGi9606.ENSP00000391088.

Structurei

3D structure databases

ProteinModelPortaliQ8N2C7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi720 – 76647Gly-richAdd
BLAST

Sequence similaritiesi

Belongs to the unc-80 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IESD. Eukaryota.
ENOG410XSBM. LUCA.
GeneTreeiENSGT00640000091496.
HOGENOMiHOG000154784.
HOVERGENiHBG108650.
InParanoidiQ8N2C7.
OMAiYQMLIIL.
OrthoDBiEOG7G7KN6.
PhylomeDBiQ8N2C7.
TreeFamiTF313531.

Family and domain databases

InterProiIPR031542. UNC80_N.
[Graphical view]
PfamiPF15778. UNC80. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti185 – 1851V → A in BAC03521 (PubMed:14702039).Curated
Sequence conflicti272 – 2721C → R in BAC03521 (PubMed:14702039).Curated
Sequence conflicti826 – 8261N → Q in BAB47472 (PubMed:11347906).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti131 – 1311R → W.
Corresponds to variant rs35822936 [ dbSNP | Ensembl ].
VAR_033656
Natural varianti189 – 1891V → M in IHPRF2. 1 Publication
VAR_075874
Natural varianti1505 – 15051D → G.
Corresponds to variant rs4673492 [ dbSNP | Ensembl ].
VAR_060196
Natural varianti1700 – 17001P → S in IHPRF2. 1 Publication
VAR_075875

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 25542554Missing in isoform 5 and isoform 6. 1 PublicationVSP_036741Add
BLAST
Alternative sequencei314 – 3207ASLVIPP → STFHFPP in isoform 3. 2 PublicationsVSP_036742
Alternative sequencei321 – 32582938Missing in isoform 3. 2 PublicationsVSP_036743Add
BLAST
Alternative sequencei822 – 8265Missing in isoform 7. CuratedVSP_054289
Alternative sequencei2604 – 3258655Missing in isoform 2. 1 PublicationVSP_031528Add
BLAST
Alternative sequencei3020 – 303819Missing in isoform 5 and isoform 7. 1 PublicationVSP_036744Add
BLAST
Alternative sequencei3020 – 30201S → R in isoform 4 and isoform 6. 1 PublicationVSP_036745
Alternative sequencei3021 – 3258238Missing in isoform 4 and isoform 6. 1 PublicationVSP_036746Add
BLAST

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

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]
UniGeneiHs.396201.

3D structure databases

ProteinModelPortaliQ8N2C7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130032. 5 interactions.
IntActiQ8N2C7. 3 interactions.
STRINGi9606.ENSP00000391088.

PTM databases

iPTMnetiQ8N2C7.
PhosphoSiteiQ8N2C7.

Polymorphism and mutation databases

BioMutaiUNC80.
DMDMi226698393.

Proteomic databases

EPDiQ8N2C7.
PaxDbiQ8N2C7.
PeptideAtlasiQ8N2C7.
PRIDEiQ8N2C7.

Protocols and materials databases

DNASUi285175.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi285175.
GeneCardsiUNC80.
H-InvDBHIX0021745.
HGNCiHGNC:26582. UNC80.
HPAiHPA042472.
MIMi612636. gene.
616801. phenotype.
neXtProtiNX_Q8N2C7.
PharmGKBiPA165697705.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IESD. Eukaryota.
ENOG410XSBM. LUCA.
GeneTreeiENSGT00640000091496.
HOGENOMiHOG000154784.
HOVERGENiHBG108650.
InParanoidiQ8N2C7.
OMAiYQMLIIL.
OrthoDBiEOG7G7KN6.
PhylomeDBiQ8N2C7.
TreeFamiTF313531.

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiUNC80. human.
GenomeRNAii285175.
PROiQ8N2C7.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N2C7.
CleanExiHS_C2orf21.
ExpressionAtlasiQ8N2C7. baseline and differential.
GenevisibleiQ8N2C7. HS.

Family and domain databases

InterProiIPR031542. UNC80_N.
[Graphical view]
PfamiPF15778. UNC80. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4; 5 AND 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 840-3258 (ISOFORM 4).
    Tissue: Teratocarcinoma and Testis.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Brain.
  5. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
    DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 826-3258 (ISOFORM 2).
    Tissue: Brain.
  6. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  7. "UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN."
    Perez Y., Kadir R., Volodarsky M., Noyman I., Flusser H., Shorer Z., Gradstein L., Birnbaum R.Y., Birk O.S.
    J. Med. Genet. 0:0-0(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN IHPRF2, TISSUE SPECIFICITY.
  8. Cited for: INVOLVEMENT IN IHPRF2, VARIANT IHPRF2 SER-1700.
  9. "Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy."
    Shamseldin H.E., Faqeih E., Alasmari A., Zaki M.S., Gleeson J.G., Alkuraya F.S.
    Am. J. Hum. Genet. 98:210-215(2016) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN IHPRF2, VARIANT IHPRF2 MET-189.

Entry informationi

Entry nameiUNC80_HUMAN
AccessioniPrimary (citable) accession number: Q8N2C7
Secondary accession number(s): B2RN50
, B4DQY9, B4DZB3, C4IXS8, C9J1U3, Q96JI4, Q96SS0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: March 24, 2009
Last modified: July 6, 2016
This is version 97 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.