UniProtKB - Q9P2P5 (HECW2_HUMAN)
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Protein
E3 ubiquitin-protein ligase HECW2
Gene
HECW2
Organism
Homo sapiens (Human)
Status
Functioni
E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73 (PubMed:12890487). Involved in the regulation of mitotic metaphase/anaphase transition (PubMed:24163370).2 Publications
Catalytic activityi
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N6-ubiquitinyl-[acceptor protein]-L-lysine.
: protein ubiquitination Pathwayi
This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 1540 | Glycyl thioester intermediatePROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- ubiquitin protein ligase activity Source: GO_Central
GO - Biological processi
- proteasome-mediated ubiquitin-dependent protein catabolic process Source: GO_Central
- protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: GO_Central
- regulation of mitotic metaphase/anaphase transition Source: UniProtKB
Keywordsi
Molecular function | Transferase |
Biological process | Ubl conjugation pathway |
Enzyme and pathway databases
Reactomei | R-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation. |
SignaLinki | Q9P2P5. |
UniPathwayi | UPA00143. |
Names & Taxonomyi
Protein namesi | Recommended name: E3 ubiquitin-protein ligase HECW2 (EC:2.3.2.26)Alternative name(s): HECT, C2 and WW domain-containing protein 2 HECT-type E3 ubiquitin transferase HECW2 NEDD4-like E3 ubiquitin-protein ligase 2 |
Gene namesi | Name:HECW2 Synonyms:KIAA1301, NEDL2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000138411.10. |
HGNCi | HGNC:29853. HECW2. |
MIMi | 617245. gene. |
neXtProti | NX_Q9P2P5. |
Pathology & Biotechi
Involvement in diseasei
Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodevelopmental disorder characterized by severely delayed psychomotor development, absent speech, epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, and macrocephaly. Brain imaging show cerebral atrophy, enlarged ventricles, and white matter abnormalities.
See also OMIM:617268Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077905 | 1191 | R → Q in NDHSAL. 1 PublicationCorresponds to variant dbSNP:rs878854416Ensembl. | 1 | |
Natural variantiVAR_077906 | 1193 | F → V in NDHSAL. 1 PublicationCorresponds to variant dbSNP:rs878854422Ensembl. | 1 | |
Natural variantiVAR_077907 | 1330 | R → W in NDHSAL. 1 PublicationCorresponds to variant dbSNP:rs878854417Ensembl. | 1 | |
Natural variantiVAR_077908 | 1445 | E → G in NDHSAL. 1 PublicationCorresponds to variant dbSNP:rs878854424Ensembl. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 57520. |
MalaCardsi | HECW2. |
MIMi | 617268. phenotype. |
OpenTargetsi | ENSG00000138411. |
PharmGKBi | PA134925001. |
Polymorphism and mutation databases
BioMutai | HECW2. |
DMDMi | 126215718. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000277667 | 1 – 1572 | E3 ubiquitin-protein ligase HECW2Add BLAST | 1572 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 48 | PhosphoserineCombined sources | 1 | |
Modified residuei | 852 | PhosphoserineCombined sources | 1 | |
Modified residuei | 909 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1175 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1.1 Publication
Keywords - PTMi
Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9P2P5. |
MaxQBi | Q9P2P5. |
PaxDbi | Q9P2P5. |
PeptideAtlasi | Q9P2P5. |
PRIDEi | Q9P2P5. |
PTM databases
iPTMneti | Q9P2P5. |
PhosphoSitePlusi | Q9P2P5. |
Expressioni
Tissue specificityi
Predominantly expressed in adult brain, lung and heart.1 Publication
Gene expression databases
Bgeei | ENSG00000138411. |
CleanExi | HS_HECW2. |
ExpressionAtlasi | Q9P2P5. baseline and differential. |
Genevisiblei | Q9P2P5. HS. |
Organism-specific databases
HPAi | HPA034609. |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGridi | 121581. 301 interactors. |
IntActi | Q9P2P5. 1 interactor. |
MINTi | Q9P2P5. |
STRINGi | 9606.ENSP00000260983. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Beta strandi | 60 – 64 | Combined sources | 5 | |
Beta strandi | 66 – 69 | Combined sources | 4 | |
Beta strandi | 76 – 81 | Combined sources | 6 | |
Beta strandi | 91 – 96 | Combined sources | 6 | |
Beta strandi | 117 – 123 | Combined sources | 7 | |
Beta strandi | 133 – 144 | Combined sources | 12 | |
Turni | 145 – 148 | Combined sources | 4 | |
Beta strandi | 149 – 153 | Combined sources | 5 | |
Beta strandi | 157 – 160 | Combined sources | 4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2LFE | NMR | - | A | 43-162 | [»] | |
ProteinModelPortali | Q9P2P5. | |||||
SMRi | Q9P2P5. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 172 – 282 | C2PROSITE-ProRule annotationAdd BLAST | 111 | |
Domaini | 807 – 840 | WW 1PROSITE-ProRule annotationAdd BLAST | 34 | |
Domaini | 985 – 1018 | WW 2PROSITE-ProRule annotationAdd BLAST | 34 | |
Domaini | 1237 – 1572 | HECTPROSITE-ProRule annotationAdd BLAST | 336 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 737 – 1068 | Interaction with TP731 PublicationAdd BLAST | 332 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 847 – 874 | Sequence analysisAdd BLAST | 28 |
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG0940. Eukaryota. COG5021. LUCA. |
GeneTreei | ENSGT00760000118966. |
HOGENOMi | HOG000069940. |
HOVERGENi | HBG057414. |
InParanoidi | Q9P2P5. |
KOi | K12168. |
OMAi | YHIDENS. |
OrthoDBi | EOG091G0A54. |
PhylomeDBi | Q9P2P5. |
TreeFami | TF313938. |
Family and domain databases
CDDi | cd08691. C2_NEDL1-like. 1 hit. cd00078. HECTc. 1 hit. cd00201. WW. 2 hits. |
Gene3Di | 2.60.40.150. 1 hit. |
InterProi | View protein in InterPro IPR000008. C2_dom. IPR035892. C2_domain_sf. IPR037795. C2_HECW. IPR000569. HECT_dom. IPR035983. Hect_E3_ubiquitin_ligase. IPR032348. HECW_N. IPR001202. WW_dom. IPR036020. WW_dom_sf. |
Pfami | View protein in Pfam PF00168. C2. 1 hit. PF00632. HECT. 1 hit. PF16562. HECW_N. 1 hit. PF00397. WW. 1 hit. |
SMARTi | View protein in SMART SM00239. C2. 1 hit. SM00119. HECTc. 1 hit. SM00456. WW. 2 hits. |
SUPFAMi | SSF51045. SSF51045. 2 hits. SSF56204. SSF56204. 1 hit. |
PROSITEi | View protein in PROSITE PS50004. C2. 1 hit. PS50237. HECT. 1 hit. PS01159. WW_DOMAIN_1. 2 hits. PS50020. WW_DOMAIN_2. 2 hits. |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9P2P5-1) [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.
10 20 30 40 50
MASSAREHLL FVRRRNPQMR YTLSPENLQS LAAQSSMPEN MTLQRANSDT
60 70 80 90 100
DLVTSESRSS LTASMYEYTL GQAQNLIIFW DIKEEVDPSD WIGLYHIDEN
110 120 130 140 150
SPANFWDSKN RGVTGTQKGQ IVWRIEPGPY FMEPEIKICF KYYHGISGAL
160 170 180 190 200
RATTPCITVK NPAVMMGAEG MEGGASGNLH SRKLVSFTLS DLRAVGLKKG
210 220 230 240 250
MFFNPDPYLK MSIQPGKKSS FPTCAHHGQE RRSTIISNTT NPIWHREKYS
260 270 280 290 300
FFALLTDVLE IEIKDKFAKS RPIIKRFLGK LTIPVQRLLE RQAIGDQMLS
310 320 330 340 350
YNLGRRLPAD HVSGYLQFKV EVTSSVHEDA SPEAVGTILG VNSVNGDLGS
360 370 380 390 400
PSDDEDMPGS HHDSQVCSNG PVSEDSAADG TPKHSFRTSS TLEIDTEELT
410 420 430 440 450
STSSRTSPPR GRQDSLNDYL DAIEHNGHSR PGTATCSERS MGASPKLRSS
460 470 480 490 500
FPTDTRLNAM LHIDSDEEDH EFQQDLGYPS SLEEEGGLIM FSRASRADDG
510 520 530 540 550
SLTSQTKLED NPVENEEAST HEAASFEDKP ENLPELAESS LPAGPAPEEG
560 570 580 590 600
EGGPEPQPSA DQGSAELCGS QEVDQPTSGA DTGTSDASGG SRRAVSETES
610 620 630 640 650
LDQGSEPSQV SSETEPSDPA RTESVSEAST RPEGESDLEC ADSSCNESVT
660 670 680 690 700
TQLSSVDTRC SSLESARFPE TPAFSSQEEE DGACAAEPTS SGPAEGSQES
710 720 730 740 750
VCTAGSLPVV QVPSGEDEGP GAESATVPDQ EELGEVWQRR GSLEGAAAAA
760 770 780 790 800
ESPPQEEGSA GEAQGTCEGA TAQEEGATGG SQANGHQPLR SLPSVRQDVS
810 820 830 840 850
RYQRVDEALP PNWEARIDSH GRIFYVDHVN RTTTWQRPTA PPAPQVLQRS
860 870 880 890 900
NSIQQMEQLN RRYQSIRRTM TNERPEENTN AIDGAGEEAD FHQASADFRR
910 920 930 940 950
ENILPHSTSR SRITLLLQSP PVKFLISPEF FTVLHSNPSA YRMFTNNTCL
960 970 980 990 1000
KHMITKVRRD THHFERYQHN RDLVGFLNMF ANKQLELPRG WEMKHDHQGK
1010 1020 1030 1040 1050
AFFVDHNSRT TTFIDPRLPL QSSRPTSALV HRQHLTRQRS HSAGEVGEDS
1060 1070 1080 1090 1100
RHAGPPVLPR PSSTFNTVSR PQYQDMVPVA YNDKIVAFLR QPNIFEILQE
1110 1120 1130 1140 1150
RQPDLTRNHS LREKIQFIRT EGTPGLVRLS SDADLVMLLS LFEEEIMSYV
1160 1170 1180 1190 1200
PPHALLHPSY CQSPRGSPVS SPQNSPGTQR ANARAPAPYK RDFEAKLRNF
1210 1220 1230 1240 1250
YRKLETKGYG QGPGKLKLII RRDHLLEDAF NQIMGYSRKD LQRNKLYVTF
1260 1270 1280 1290 1300
VGEEGLDYSG PSREFFFLVS RELFNPYYGL FEYSANDTYT VQISPMSAFV
1310 1320 1330 1340 1350
DNHHEWFRFS GRILGLALIH QYLLDAFFTR PFYKALLRIL CDLSDLEYLD
1360 1370 1380 1390 1400
EEFHQSLQWM KDNDIHDILD LTFTVNEEVF GQITERELKP GGANIPVTEK
1410 1420 1430 1440 1450
NKKEYIERMV KWRIERGVVQ QTESLVRGFY EVVDARLVSV FDARELELVI
1460 1470 1480 1490 1500
AGTAEIDLSD WRNNTEYRGG YHDNHIVIRW FWAAVERFNN EQRLRLLQFV
1510 1520 1530 1540 1550
TGTSSIPYEG FASLRGSNGP RRFCVEKWGK ITALPRAHTC FNRLDLPPYP
1560 1570
SFSMLYEKLL TAVEETSTFG LE
Isoform 2 (identifier: Q9P2P5-2) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
1-131: Missing.
191-213: DLRAVGLKKGMFFNPDPYLKMSI → ARKEEQFPHLCPPRAGETVYYHQ
214-1572: Missing.
Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »Sequence cautioni
The sequence BAA92539 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAH18262 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1074 | Q → H in CAH18262 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077905 | 1191 | R → Q in NDHSAL. 1 PublicationCorresponds to variant dbSNP:rs878854416Ensembl. | 1 | |
Natural variantiVAR_077906 | 1193 | F → V in NDHSAL. 1 PublicationCorresponds to variant dbSNP:rs878854422Ensembl. | 1 | |
Natural variantiVAR_077907 | 1330 | R → W in NDHSAL. 1 PublicationCorresponds to variant dbSNP:rs878854417Ensembl. | 1 | |
Natural variantiVAR_077908 | 1445 | E → G in NDHSAL. 1 PublicationCorresponds to variant dbSNP:rs878854424Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_059106 | 1 – 131 | Missing in isoform 2. 1 PublicationAdd BLAST | 131 | |
Alternative sequenceiVSP_059107 | 191 – 213 | DLRAV…LKMSI → ARKEEQFPHLCPPRAGETVY YHQ in isoform 2. 1 PublicationAdd BLAST | 23 | |
Alternative sequenceiVSP_059108 | 214 – 1572 | Missing in isoform 2. 1 PublicationAdd BLAST | 1359 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB037722 mRNA. Translation: BAA92539.1. Different initiation. AL390186 mRNA. Translation: CAB99103.1. CR749424 mRNA. Translation: CAH18262.1. Sequence problems. AC020571 Genomic DNA. No translation available. AC068544 Genomic DNA. No translation available. AC073905 Genomic DNA. No translation available. AC074090 Genomic DNA. No translation available. AC093379 Genomic DNA. No translation available. BC117194 mRNA. Translation: AAI17195.1. BC117198 mRNA. Translation: AAI17199.1. |
CCDSi | CCDS33354.1. [Q9P2P5-1] |
PIRi | T51886. |
RefSeqi | NP_065811.1. NM_020760.2. [Q9P2P5-1] XP_016860052.1. XM_017004563.1. [Q9P2P5-1] |
UniGenei | Hs.633212. Hs.654742. |
Genome annotation databases
Ensembli | ENST00000260983; ENSP00000260983; ENSG00000138411. [Q9P2P5-1] |
GeneIDi | 57520. |
KEGGi | hsa:57520. |
UCSCi | uc002utl.2. human. [Q9P2P5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Entry informationi
Entry namei | HECW2_HUMAN | |
Accessioni | Q9P2P5Primary (citable) accession number: Q9P2P5 Secondary accession number(s): B8ZZB4 Q9NPS9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 20, 2007 |
Last sequence update: | February 20, 2007 | |
Last modified: | March 28, 2018 | |
This is version 137 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |