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Protein

Protein unc-13 homolog C

Gene

UNC13C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri1097 – 114751Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Exocytosis

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Protein unc-13 homolog C
Alternative name(s):
Munc13-3
Gene namesi
Name:UNC13C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:23149. UNC13C.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • cytoplasm Source: UniProtKB-SubCell
  • plasma membrane Source: ParkinsonsUK-UCL
  • presynaptic active zone Source: ParkinsonsUK-UCL
  • presynaptic membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Synapse

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134870087.

Polymorphism and mutation databases

BioMutaiUNC13C.
DMDMi148887448.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 22142214Protein unc-13 homolog CPRO_0000188578Add
BLAST

Proteomic databases

EPDiQ8NB66.
PaxDbiQ8NB66.
PRIDEiQ8NB66.

PTM databases

iPTMnetiQ8NB66.
PhosphoSiteiQ8NB66.

Expressioni

Tissue specificityi

Exclusively expressed in brain.

Gene expression databases

BgeeiQ8NB66.
CleanExiHS_UNC13C.
ExpressionAtlasiQ8NB66. baseline and differential.
GenevisibleiQ8NB66. HS.

Organism-specific databases

HPAiHPA041516.

Interactioni

Subunit structurei

Interacts with STX1A and/or STX1B1, VAMP2 and SNAP25.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000260323.

Structurei

3D structure databases

ProteinModelPortaliQ8NB66.
SMRiQ8NB66. Positions 1098-1147, 1218-1350, 1475-2026.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1207 – 1313107C2 1PROSITE-ProRule annotationAdd
BLAST
Domaini1637 – 1780144MHD1PROSITE-ProRule annotationAdd
BLAST
Domaini1886 – 2028143MHD2PROSITE-ProRule annotationAdd
BLAST
Domaini2048 – 2153106C2 2PROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili99 – 13537Sequence analysisAdd
BLAST
Coiled coili971 – 99525Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi156 – 1594Poly-Ser

Domaini

The C2 domains are not involved in calcium-dependent phospholipid binding.By similarity

Sequence similaritiesi

Belongs to the unc-13 family.Curated
Contains 2 C2 domains.PROSITE-ProRule annotation
Contains 1 MHD1 (MUNC13 homology domain 1) domain.PROSITE-ProRule annotation
Contains 1 MHD2 (MUNC13 homology domain 2) domain.PROSITE-ProRule annotation
Contains 1 phorbol-ester/DAG-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri1097 – 114751Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1011. Eukaryota.
ENOG410XS5D. LUCA.
GeneTreeiENSGT00730000110590.
HOGENOMiHOG000154775.
HOVERGENiHBG108648.
InParanoidiQ8NB66.
KOiK15293.
OMAiNEPQGQW.
OrthoDBiEOG76738V.
PhylomeDBiQ8NB66.
TreeFamiTF312844.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR010439. CAPS_dom.
IPR014770. Munc13_1.
IPR014772. Munc13_dom-2.
IPR019558. Munc13_subgr_dom-2.
IPR002219. PE/DAG-bd.
IPR027080. Unc-13.
IPR027087. Unc13C.
[Graphical view]
PANTHERiPTHR10480. PTHR10480. 1 hit.
PTHR10480:SF2. PTHR10480:SF2. 1 hit.
PfamiPF00130. C1_1. 1 hit.
PF00168. C2. 2 hits.
PF06292. DUF1041. 1 hit.
PF10540. Membr_traf_MHD. 1 hit.
[Graphical view]
PRINTSiPR00360. C2DOMAIN.
SMARTiSM00109. C1. 1 hit.
SM00239. C2. 2 hits.
SM01145. DUF1041. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
PROSITEiPS50004. C2. 2 hits.
PS51258. MHD1. 1 hit.
PS51259. MHD2. 1 hit.
PS00479. ZF_DAG_PE_1. 1 hit.
PS50081. ZF_DAG_PE_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8NB66-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVANFFKSLI LPYIHKLCKG MFTKKLGNTN KNKEYRQQKK DQDFPTAGQT
60 70 80 90 100
KSPKFSYTFK STVKKIAKCS STHNLSTEED EASKEFSLSP TFSYRVAIAN
110 120 130 140 150
GLQKNAKVTN SDNEDLLQEL SSIESSYSES LNELRSSTEN QAQSTHTMPV
160 170 180 190 200
RRNRKSSSSL APSEGSSDGE RTLHGLKLGA LRKLRKWKKS QECVSSDSEL
210 220 230 240 250
STMKKSWGIR SKSLDRTVRN PKTNALEPGF SSSGCISQTH DVMEMIFKEL
260 270 280 290 300
QGISQIETEL SELRGHVNAL KHSIDEISSS VEVVQSEIEQ LRTGFVQSRR
310 320 330 340 350
ETRDIHDYIK HLGHMGSKAS LRFLNVTEER FEYVESVVYQ ILIDKMGFSD
360 370 380 390 400
APNAIKIEFA QRIGHQRDCP NAKPRPILVY FETPQQRDSV LKKSYKLKGT
410 420 430 440 450
GIGISTDILT HDIRERKEKG IPSSQTYESM AIKLSTPEPK IKKNNWQSPD
460 470 480 490 500
DSDEDLESDL NRNSYAVLSK SELLTKGSTS KPSSKSHSAR SKNKTANSSR
510 520 530 540 550
ISNKSDYDKI SSQLPESDIL EKQTTTHYAD ATPLWHSQSD FFTAKLSRSE
560 570 580 590 600
SDFSKLCQSY SEDFSENQFF TRTNGSSLLS SSDRELWQRK QEGTATLYDS
610 620 630 640 650
PKDQHLNGGV QGIQGQTETE NTETVDSGMS NGMVCASGDR SHYSDSQLSL
660 670 680 690 700
HEDLSPWKEW NQGADLGLDS STQEGFDYET NSLFDQQLDV YNKDLEYLGK
710 720 730 740 750
CHSDLQDDSE SYDLTQDDNS SPCPGLDNEP QGQWVGQYDS YQGANSNELY
760 770 780 790 800
QNQNQLSMMY RSQSELQSDD SEDAPPKSWH SRLSIDLSDK TFSFPKFGST
810 820 830 840 850
LQRAKSALEV VWNKSTQSLS GYEDSGSSLM GRFRTLSQST ANESSTTLDS
860 870 880 890 900
DVYTEPYYYK AEDEEDYTEP VADNETDYVE VMEQVLAKLE NRTSITETDE
910 920 930 940 950
QMQAYDHLSY ETPYETPQDE GYDGPADDMV SEEGLEPLNE TSAEMEIRED
960 970 980 990 1000
ENQNIPEQPV EITKPKRIRP SFKEAALRAY KKQMAELEEK ILAGDSSSVD
1010 1020 1030 1040 1050
EKARIVSGND LDASKFSALQ VCGGAGGGLY GIDSMPDLRR KKTLPIVRDV
1060 1070 1080 1090 1100
AMTLAARKSG LSLAMVIRTS LNNEELKMHV FKKTLQALIY PMSSTIPHNF
1110 1120 1130 1140 1150
EVWTATTPTY CYECEGLLWG IARQGMKCLE CGVKCHEKCQ DLLNADCLQR
1160 1170 1180 1190 1200
AAEKSSKHGA EDKTQTIITA MKERMKIREK NRPEVFEVIQ EMFQISKEDF
1210 1220 1230 1240 1250
VQFTKAAKQS VLDGTSKWSA KITITVVSAQ GLQAKDKTGS SDPYVTVQVG
1260 1270 1280 1290 1300
KNKRRTKTIF GNLNPVWDEK FYFECHNSTD RIKVRVWDED DDIKSRVKQH
1310 1320 1330 1340 1350
FKKESDDFLG QTIVEVRTLS GEMDVWYNLE KRTDKSAVSG AIRLKINVEI
1360 1370 1380 1390 1400
KGEEKVAPYH IQYTCLHENL FHYLTEVKSN GGVKIPEVKG DEAWKVFFDD
1410 1420 1430 1440 1450
ASQEIVDEFA MRYGIESIYQ AMTHFSCLSS KYMCPGVPAV MSTLLANINA
1460 1470 1480 1490 1500
FYAHTTVSTN IQVSASDRFA ATNFGREKFI KLLDQLHNSL RIDLSKYREN
1510 1520 1530 1540 1550
FPASNTERLQ DLKSTVDLLT SITFFRMKVL ELQSPPKASM VVKDCVRACL
1560 1570 1580 1590 1600
DSTYKYIFDN CHELYSQLTD PSKKQDIPRE DQGPTTKNLD FWPQLITLMV
1610 1620 1630 1640 1650
TIIDEDKTAY TPVLNQFPQE LNMGKISAEI MWTLFALDMK YALEEHENQR
1660 1670 1680 1690 1700
LCKSTDYMNL HFKVKWFYNE YVRELPAFKD AVPEYSLWFE PFVMQWLDEN
1710 1720 1730 1740 1750
EDVSMEFLHG ALGRDKKDGF QQTSEHALFS CSVVDVFAQL NQSFEIIKKL
1760 1770 1780 1790 1800
ECPNPEALSH LMRRFAKTIN KVLLQYAAIV SSDFSSHCDK ENVPCILMNN
1810 1820 1830 1840 1850
IQQLRVQLEK MFESMGGKEL DSEASTILKE LQVKLSGVLD ELSVTYGESF
1860 1870 1880 1890 1900
QVIIEECIKQ MSFELNQMRA NGNTTSNKNS AAMDAEIVLR SLMDFLDKTL
1910 1920 1930 1940 1950
SLSAKICEKT VLKRVLKELW KLVLNKIEKQ IVLPPLTDQT GPQMIFIAAK
1960 1970 1980 1990 2000
DLGQLSKLKE HMIREDARGL TPRQCAIMEV VLATIKQYFH AGGNGLKKNF
2010 2020 2030 2040 2050
LEKSPDLQSL RYALSLYTQT TDALIKKFID TQTSQSRSSK DAVGQISVHV
2060 2070 2080 2090 2100
DITATPGTGD HKVTVKVIAI NDLNWQTTAM FRPFVEVCIL GPNLGDKKRK
2110 2120 2130 2140 2150
QGTKTKSNTW SPKYNETFQF ILGKENRPGA YELHLSVKDY CFAREDRIIG
2160 2170 2180 2190 2200
MTVIQLQNIA EKGSYGAWYP LLKNISMDET GLTILRILSQ RTSDDVAKEF
2210
VRLKSETRST EESA
Length:2,214
Mass (Da):250,911
Last modified:June 12, 2007 - v3
Checksum:iC8287DAD9DF99B7D
GO

Sequence cautioni

The sequence AAH40740.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB70836.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAC03675.1 differs from that shown.Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence BAC03675.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2036 – 20361S → C in AAH40740 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti304 – 3041D → E Rare variant; may act as a phenotype modifier in EIEE13 patients carrying SCN8A mutations. 1 Publication
Corresponds to variant rs149448818 [ dbSNP | Ensembl ].
VAR_067540
Natural varianti609 – 6091G → S.
Corresponds to variant rs12437941 [ dbSNP | Ensembl ].
VAR_061873
Natural varianti942 – 9421S → L.
Corresponds to variant rs17731958 [ dbSNP | Ensembl ].
VAR_052468
Natural varianti2196 – 21961V → A Rare variant; may act as a phenotype modifier in EIEE13 patients carrying SCN8A mutations. 1 Publication
Corresponds to variant rs146433220 [ dbSNP | Ensembl ].
VAR_067541

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010867 Genomic DNA. No translation available.
AC022302 Genomic DNA. No translation available.
AC034103 Genomic DNA. No translation available.
AC068711 Genomic DNA. No translation available.
AK054981 mRNA. Translation: BAB70836.1. Different initiation.
AK091491 mRNA. Translation: BAC03675.1. Different initiation.
AL834407 mRNA. Translation: CAD39069.2.
BC040740 mRNA. Translation: AAH40740.1. Different initiation.
CCDSiCCDS45264.1.
RefSeqiNP_001074003.1. NM_001080534.1.
XP_005254451.1. XM_005254394.3.
UniGeneiHs.657273.

Genome annotation databases

EnsembliENST00000260323; ENSP00000260323; ENSG00000137766.
GeneIDi440279.
KEGGihsa:440279.
UCSCiuc002acm.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010867 Genomic DNA. No translation available.
AC022302 Genomic DNA. No translation available.
AC034103 Genomic DNA. No translation available.
AC068711 Genomic DNA. No translation available.
AK054981 mRNA. Translation: BAB70836.1. Different initiation.
AK091491 mRNA. Translation: BAC03675.1. Different initiation.
AL834407 mRNA. Translation: CAD39069.2.
BC040740 mRNA. Translation: AAH40740.1. Different initiation.
CCDSiCCDS45264.1.
RefSeqiNP_001074003.1. NM_001080534.1.
XP_005254451.1. XM_005254394.3.
UniGeneiHs.657273.

3D structure databases

ProteinModelPortaliQ8NB66.
SMRiQ8NB66. Positions 1098-1147, 1218-1350, 1475-2026.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000260323.

PTM databases

iPTMnetiQ8NB66.
PhosphoSiteiQ8NB66.

Polymorphism and mutation databases

BioMutaiUNC13C.
DMDMi148887448.

Proteomic databases

EPDiQ8NB66.
PaxDbiQ8NB66.
PRIDEiQ8NB66.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260323; ENSP00000260323; ENSG00000137766.
GeneIDi440279.
KEGGihsa:440279.
UCSCiuc002acm.4. human.

Organism-specific databases

CTDi440279.
GeneCardsiUNC13C.
H-InvDBHIX0012259.
HGNCiHGNC:23149. UNC13C.
HPAiHPA041516.
MIMi614568. gene.
neXtProtiNX_Q8NB66.
PharmGKBiPA134870087.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1011. Eukaryota.
ENOG410XS5D. LUCA.
GeneTreeiENSGT00730000110590.
HOGENOMiHOG000154775.
HOVERGENiHBG108648.
InParanoidiQ8NB66.
KOiK15293.
OMAiNEPQGQW.
OrthoDBiEOG76738V.
PhylomeDBiQ8NB66.
TreeFamiTF312844.

Miscellaneous databases

ChiTaRSiUNC13C. human.
GenomeRNAii440279.
PROiQ8NB66.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NB66.
CleanExiHS_UNC13C.
ExpressionAtlasiQ8NB66. baseline and differential.
GenevisibleiQ8NB66. HS.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR010439. CAPS_dom.
IPR014770. Munc13_1.
IPR014772. Munc13_dom-2.
IPR019558. Munc13_subgr_dom-2.
IPR002219. PE/DAG-bd.
IPR027080. Unc-13.
IPR027087. Unc13C.
[Graphical view]
PANTHERiPTHR10480. PTHR10480. 1 hit.
PTHR10480:SF2. PTHR10480:SF2. 1 hit.
PfamiPF00130. C1_1. 1 hit.
PF00168. C2. 2 hits.
PF06292. DUF1041. 1 hit.
PF10540. Membr_traf_MHD. 1 hit.
[Graphical view]
PRINTSiPR00360. C2DOMAIN.
SMARTiSM00109. C1. 1 hit.
SM00239. C2. 2 hits.
SM01145. DUF1041. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
PROSITEiPS50004. C2. 2 hits.
PS51258. MHD1. 1 hit.
PS51259. MHD2. 1 hit.
PS00479. ZF_DAG_PE_1. 1 hit.
PS50081. ZF_DAG_PE_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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] OF 1025-1925 AND 2019-2214.
    Tissue: Brain and Cerebellum.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1580-2214.
    Tissue: Brain.
  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] OF 2036-2214.
    Tissue: Brain.
  5. "de novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP."
    Veeramah K.R., O'Brien J.E., Meisler M.H., Cheng X., Dib-Hajj S.D., Waxman S.G., Talwar D., Girirajan S., Eichler E.E., Restifo L.L., Erickson R.P., Hammer M.F.
    Am. J. Hum. Genet. 90:502-510(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLU-304 AND ALA-2196.

Entry informationi

Entry nameiUN13C_HUMAN
AccessioniPrimary (citable) accession number: Q8NB66
Secondary accession number(s): Q0P613, Q8ND48, Q96NP3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: June 12, 2007
Last modified: June 8, 2016
This is version 124 of the entry and version 3 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 15
    Human chromosome 15: 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.