UniProtKB - Q15751 (HERC1_HUMAN)
Protein
Probable E3 ubiquitin-protein ligase HERC1
Gene
HERC1
Organism
Homo sapiens (Human)
Status
Functioni
Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.3 Publications
Catalytic activityi
- S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine. EC:2.3.2.26
: 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 | 4811 | Glycyl thioester intermediatePROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- ARF guanyl-nucleotide exchange factor activity Source: ProtInc
- ubiquitin-protein transferase activity Source: InterPro
GO - Biological processi
- cerebellar Purkinje cell differentiation Source: Ensembl
- negative regulation of autophagy Source: Ensembl
- neuromuscular process controlling balance Source: Ensembl
- neuron projection development Source: Ensembl
Keywordsi
Molecular function | Guanine-nucleotide releasing factor, Transferase |
Biological process | Transport, Ubl conjugation pathway |
Enzyme and pathway databases
PathwayCommonsi | Q15751 |
Reactomei | R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation |
SignaLinki | Q15751 |
UniPathwayi | UPA00143 |
Names & Taxonomyi
Protein namesi | Recommended name: Probable E3 ubiquitin-protein ligase HERC1 (EC:2.3.2.26)Alternative name(s): HECT domain and RCC1-like domain-containing protein 1 HECT-type E3 ubiquitin transferase HERC1 p532 p619 |
Gene namesi | Name:HERC1 |
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:ENSG00000103657.13 |
HGNCi | HGNC:4867, HERC1 |
MIMi | 605109, gene |
neXtProti | NX_Q15751 |
Subcellular locationi
Cytosol
Golgi apparatus
Other locations
Note: Recruited onto actin-rich surface protrusions.
Cytosol
- cytosol Source: UniProtKB-SubCell
Golgi apparatus
- Golgi apparatus Source: ProtInc
Other locations
Keywords - Cellular componenti
Cytoplasm, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076995 | 4520 | G → E in MDFPMR. 1 PublicationCorresponds to variant dbSNP:rs769677823EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 8925 |
MalaCardsi | HERC1 |
MIMi | 617011, phenotype |
OpenTargetsi | ENSG00000103657 |
Orphaneti | 457359, Megalencephaly-severe kyphoscoliosis-overgrowth syndrome |
PharmGKBi | PA29242 |
Miscellaneous databases
Pharosi | Q15751, Tbio |
Polymorphism and mutation databases
BioMutai | HERC1 |
DMDMi | 296434522 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000328871 | 1 – 4861 | Probable E3 ubiquitin-protein ligase HERC1Add BLAST | 4861 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1342 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1406 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1428 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1491 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1512 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1517 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1521 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2422 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2701 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 2706 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2710 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2720 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2723 | PhosphoserineCombined sources | 1 | |
Modified residuei | 4857 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q15751 |
jPOSTi | Q15751 |
MassIVEi | Q15751 |
MaxQBi | Q15751 |
PaxDbi | Q15751 |
PeptideAtlasi | Q15751 |
PRIDEi | Q15751 |
ProteomicsDBi | 60743 |
PTM databases
iPTMneti | Q15751 |
MetOSitei | Q15751 |
PhosphoSitePlusi | Q15751 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000103657, Expressed in corpus callosum and 238 other tissues |
ExpressionAtlasi | Q15751, baseline and differential |
Genevisiblei | Q15751, HS |
Organism-specific databases
HPAi | ENSG00000103657, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with TSC2; interaction is inhibited by TSC1.
Interacts with PKM, ARF1 and ARF6.
Forms a ternary complex with clathrin heavy chain (CLTC) and HSPA1A.
5 PublicationsGO - Molecular functioni
- ARF guanyl-nucleotide exchange factor activity Source: ProtInc
Protein-protein interaction databases
BioGRIDi | 114439, 77 interactors |
CORUMi | Q15751 |
IntActi | Q15751, 41 interactors |
MINTi | Q15751 |
STRINGi | 9606.ENSP00000390158 |
Miscellaneous databases
RNActi | Q15751, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q15751 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 371 – 420 | RCC1 1Add BLAST | 50 | |
Repeati | 421 – 475 | RCC1 2Add BLAST | 55 | |
Repeati | 476 – 528 | RCC1 3Add BLAST | 53 | |
Repeati | 529 – 578 | RCC1 4Add BLAST | 50 | |
Repeati | 580 – 631 | RCC1 5Add BLAST | 52 | |
Repeati | 633 – 682 | RCC1 6Add BLAST | 50 | |
Repeati | 683 – 735 | RCC1 7Add BLAST | 53 | |
Domaini | 2002 – 2193 | B30.2/SPRYPROSITE-ProRule annotationAdd BLAST | 192 | |
Repeati | 3426 – 3465 | WD 1Add BLAST | 40 | |
Repeati | 3484 – 3522 | WD 2Add BLAST | 39 | |
Repeati | 3524 – 3572 | WD 3Add BLAST | 49 | |
Repeati | 3580 – 3619 | WD 4Add BLAST | 40 | |
Repeati | 3624 – 3663 | WD 5Add BLAST | 40 | |
Repeati | 3667 – 3713 | WD 6Add BLAST | 47 | |
Repeati | 3745 – 3784 | WD 7Add BLAST | 40 | |
Repeati | 3996 – 4044 | RCC1 8Add BLAST | 49 | |
Repeati | 4046 – 4099 | RCC1 9Add BLAST | 54 | |
Repeati | 4101 – 4151 | RCC1 10Add BLAST | 51 | |
Repeati | 4153 – 4203 | RCC1 11Add BLAST | 51 | |
Repeati | 4205 – 4256 | RCC1 12Add BLAST | 52 | |
Repeati | 4258 – 4308 | RCC1 13Add BLAST | 51 | |
Repeati | 4310 – 4360 | RCC1 14Add BLAST | 51 | |
Domaini | 4501 – 4848 | HECTPROSITE-ProRule annotationAdd BLAST | 348 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1349 – 1378 | Glu-richAdd BLAST | 30 |
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG1426, Eukaryota |
GeneTreei | ENSGT00940000155907 |
HOGENOMi | CLU_000091_0_0_1 |
InParanoidi | Q15751 |
OMAi | GVESQHQ |
OrthoDBi | 1062377at2759 |
PhylomeDBi | Q15751 |
TreeFami | TF106426 |
Family and domain databases
CDDi | cd00078, HECTc, 1 hit cd12881, SPRY_HERC1, 1 hit |
Gene3Di | 2.130.10.10, 1 hit 2.130.10.30, 2 hits 2.60.120.920, 1 hit |
InterProi | View protein in InterPro IPR001870, B30.2/SPRY IPR043136, B30.2/SPRY_sf IPR013320, ConA-like_dom_sf IPR000569, HECT_dom IPR035983, Hect_E3_ubiquitin_ligase IPR009091, RCC1/BLIP-II IPR000408, Reg_chr_condens IPR003877, SPRY_dom IPR035768, SPRY_HERC1 IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR019775, WD40_repeat_CS IPR017986, WD40_repeat_dom IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF00632, HECT, 1 hit PF00415, RCC1, 10 hits PF00622, SPRY, 1 hit PF00400, WD40, 2 hits |
PRINTSi | PR00633, RCCNDNSATION |
SMARTi | View protein in SMART SM00119, HECTc, 1 hit SM00449, SPRY, 1 hit SM00320, WD40, 5 hits |
SUPFAMi | SSF49899, SSF49899, 1 hit SSF50978, SSF50978, 2 hits SSF50985, SSF50985, 2 hits SSF56204, SSF56204, 1 hit |
PROSITEi | View protein in PROSITE PS50188, B302_SPRY, 1 hit PS50237, HECT, 1 hit PS00626, RCC1_2, 4 hits PS50012, RCC1_3, 14 hits PS00678, WD_REPEATS_1, 1 hit PS50082, WD_REPEATS_2, 3 hits PS50294, WD_REPEATS_REGION, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All
Q15751-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MATMIPPVKL KWLEHLNSSW ITEDSESIAT REGVAVLYSK LVSNKEVVPL
60 70 80 90 100
PQQVLCLKGP QLPDFERESL SSDEQDHYLD ALLSSQLALA KMVCSDSPFA
110 120 130 140 150
GALRKRLLVL QRVFYALSNK YHDKGKVKQQ QHSPESSSGS ADVHSVSERP
160 170 180 190 200
RSSTDALIEM GVRTGLSLLF ALLRQSWMMP VSGPGLSLCN DVIHTAIEVV
210 220 230 240 250
SSLPPLSLAN ESKIPPMGLD CLSQVTTFLK GVTIPNSGAD TLGRRLASEL
260 270 280 290 300
LLGLAAQRGS LRYLLEWIEM ALGASAVVHT MEKGKLLSSQ EGMISFDCFM
310 320 330 340 350
TILMQMRRSL GSSADRSQWR EPTRTSDGLC SLYEAALCLF EEVCRMASDY
360 370 380 390 400
SRTCASPDSI QTGDAPIVSE TCEVYVWGSN SSHQLVEGTQ EKILQPKLAP
410 420 430 440 450
SFSDAQTIEA GQYCTFVIST DGSVRACGKG SYGRLGLGDS NNQSTLKKLT
460 470 480 490 500
FEPHRSIKKV SSSKGSDGHT LAFTTEGEVF SWGDGDYGKL GHGNSSTQKY
510 520 530 540 550
PKLIQGPLQG KVVVCVSAGY RHSAAVTEDG ELYTWGEGDF GRLGHGDSNS
560 570 580 590 600
RNIPTLVKDI SNVGEVSCGS SHTIALSKDG RTVWSFGGGD NGKLGHGDTN
610 620 630 640 650
RVYKPKVIEA LQGMFIRKVC AGSQSSLALT STGQVYAWGC GACLGCGSSE
660 670 680 690 700
ATALRPKLIE ELAATRIVDV SIGDSHCLAL SHDNEVYAWG NNSMGQCGQG
710 720 730 740 750
NSTGPITKPK KVSGLDGIAI QQISAGTSHS LAWTALPRDR QVVAWHRPYC
760 770 780 790 800
VDLEESTFSH LRSFLERYCD KINSEIPPLP FPSSREHHSF LKLCLKLLSN
810 820 830 840 850
HLALALAGGV ATSILGRQAG PLRNLLFRLM DSTVPDEIQE VVIETLSVGA
860 870 880 890 900
TMLLPPLRER MELLHSLLPQ GPDRWESLSK GQRMQLDIIL TSLQDHTHVA
910 920 930 940 950
SLLGYSSPSD AADLSSVCTG YGNLSDQPYG TQSCHPDTHL AEILMKTLLR
960 970 980 990 1000
NLGFYTDQAF GELEKNSDKF LLGTSSSENS QPAHLHELLC SLQKQLLAFC
1010 1020 1030 1040 1050
HINNISENSS SVALLHKHLQ LLLPHATDIY SRSANLLKES PWNGSVGEKL
1060 1070 1080 1090 1100
RDVIYVSAAG SMLCQIVNSL LLLPVSVARP LLSYLLDLLP PLDCLNRLLP
1110 1120 1130 1140 1150
AADLLEDQEL QWPLHGGPEL IDPAGLPLPQ PAQSWVWLVD LERTIALLIG
1160 1170 1180 1190 1200
RCLGGMLQGS PVSPEEQDTA YWMKTPLFSD GVEMDTPQLD KCMSCLLEVA
1210 1220 1230 1240 1250
LSGNEEQKPF DYKLRPEIAV YVDLALGCSK EPARSLWISM QDYAVSKDWD
1260 1270 1280 1290 1300
SATLSNESLL DTVSRFVLAA LLKHTNLLSQ ACGESRYQPG KHLSEVYRCV
1310 1320 1330 1340 1350
YKVRSRLLAC KNLELIQTRS SSRDRWISEN QDSADVDPQE HSFTRTIDEE
1360 1370 1380 1390 1400
AEMEEQAERD REEGHPEPED EEEEREHEVM TAGKIFQCFL SAREVARSRD
1410 1420 1430 1440 1450
RDRMNSGAGS GARADDPPPQ SQQERRVSTD LPEGQDVYTA ACNSVIHRCA
1460 1470 1480 1490 1500
LLILGVSPVI DELQKRREEG QLQQPSTSAS EGGGLMTRSE SLTAESRLVH
1510 1520 1530 1540 1550
TSPNYRLIKS RSESDLSQPE SDEEGYALSG RRNVDLDLAA SHRKRGPMHS
1560 1570 1580 1590 1600
QLESLSDSWA RLKHSRDWLC NSSYSFESDF DLTKSLGVHT LIENVVSFVS
1610 1620 1630 1640 1650
GDVGNAPGFK EPEESMSTSP QASIIAMEQQ QLRAELRLEA LHQILVLLSG
1660 1670 1680 1690 1700
MEEKGSISLA GSRLSSGFQS STLLTSVRLQ FLAGCFGLGT VGHTGGKGES
1710 1720 1730 1740 1750
GRLHHYQDGI RAAKRNIQIE IQVAVHKIYQ QLSATLERAL QANKHHIEAQ
1760 1770 1780 1790 1800
QRLLLVTVFA LSVHYQPVDV SLAISTGLLN VLSQLCGTDT MLGQPLQLLP
1810 1820 1830 1840 1850
KTGVSQLSTA LKVASTRLLQ ILAITTGTYA DKLSPKVVQS LLDLLCSQLK
1860 1870 1880 1890 1900
NLLSQTGVLH MASFGEGEQE DGEEEEKKVD SSGETEKKDF RAALRKQHAA
1910 1920 1930 1940 1950
ELHLGDFLVF LRRVVSSKAI QSKMASPKWT EVLLNIASQK CSSGIPLVGN
1960 1970 1980 1990 2000
LRTRLLALHV LEAVLPACES GVEDDQMAQI VERLFSLLSD CMWETPIAQA
2010 2020 2030 2040 2050
KHAIQIKEKE QEIKLQKQGE LEEEDENLPI QEVSFDPEKA QCCLVENGQI
2060 2070 2080 2090 2100
LTHGSGGKGY GLASTGVTSG CYQWKFYIVK ENRGNEGTCV GVSRWPVHDF
2110 2120 2130 2140 2150
NHRTTSDMWL YRAYSGNLYH NGEQTLTLSS FTQGDFITCV LDMEARTISF
2160 2170 2180 2190 2200
GKNGEEPKLA FEDVDAAELY PCVMFYSSNP GEKVKICDMQ MRGTPRDLLP
2210 2220 2230 2240 2250
GDPICSPVAA VLAEATIQLI RILHRTDRWT YCINKKMMER LHKIKICIKE
2260 2270 2280 2290 2300
SGQKLKKSRS VQSREENEMR EEKESKEEEK GKHTRHGLAD LSELQLRTLC
2310 2320 2330 2340 2350
IEVWPVLAVI GGVDAGLRVG GRCVHKQTGR HATLLGVVKE GSTSAKVQWD
2360 2370 2380 2390 2400
EAEITISFPT FWSPSDTPLY NLEPCEPLPF DVARFRGLTA SVLLDLTYLT
2410 2420 2430 2440 2450
GVHEDMGKQS TKRHEKKHRH ESEEKGDVEQ KPESESALDM RTGLTSDDVK
2460 2470 2480 2490 2500
SQSTTSSKSE NEIASFSLDP TLPSVESQHQ ITEGKRKNHE HMSKNHDVAQ
2510 2520 2530 2540 2550
SEIRAVQLSY LYLGAMKSLS ALLGCSKYAE LLLIPKVLAE NGHNSDCASS
2560 2570 2580 2590 2600
PVVHEDVEMR AALQFLMRHM VKRAVMRSPI KRALGLADLE RAQAMIYKLV
2610 2620 2630 2640 2650
VHGLLEDQFG GKIKQEIDQQ AEESDPAQQA QTPVTTSPSA SSTTSFMSSS
2660 2670 2680 2690 2700
LEDTTTATTP VTDTETVPAS ESPGVMPLSL LRQMFSSYPT TTVLPTRRAQ
2710 2720 2730 2740 2750
TPPISSLPTS PSDEVGRRQS LTSPDSQSAR PANRTALSDP SSRLSTSPPP
2760 2770 2780 2790 2800
PAIAVPLLEM GFSLRQIAKA MEATGARGEA DAQNITVLAM WMIEHPGHED
2810 2820 2830 2840 2850
EEEPQSGSTA DSRPGAAVLG SGGKSNDPCY LQSPGDIPSA DAAEMEEGFS
2860 2870 2880 2890 2900
ESPDNLDHTE NAASGSGPSA RGRSAVTRRH KFDLAARTLL ARAAGLYRSV
2910 2920 2930 2940 2950
QAHRNQSRRE GISLQQDPGA LYDFNLDEEL EIDLDDEAME AMFGQDLTSD
2960 2970 2980 2990 3000
NDILGMWIPE VLDWPTWHVC ESEDREEVVV CELCECSVVS FNQHMKRNHP
3010 3020 3030 3040 3050
GCGRSANRQG YRSNGSYVDG WFGGECGSGN PYYLLCGTCR EKYLAMKTKS
3060 3070 3080 3090 3100
KSTSSERYKG QAPDLIGKQD SVYEEDWDML DVDEDEKLTG EEEFELLAGP
3110 3120 3130 3140 3150
LGLNDRRIVP EPVQFPDSDP LGASVAMVTA TNSMEETLMQ IGCHGSVEKS
3160 3170 3180 3190 3200
SSGRITLGEQ AAALANPHDR VVALRRVTAA AQVLLARTMV MRALSLLSVS
3210 3220 3230 3240 3250
GSSCSLAAGL ESLGLTDIRT LVRLMCLAAA GRAGLSTSPS AMASTSERSR
3260 3270 3280 3290 3300
GGHSKANKPI SCLAYLSTAV GCLASNAPSA AKLLVQLCTQ NLISAATGVN
3310 3320 3330 3340 3350
LTTVDDSIQR KFLPSFLRGI AEENKLVTSP NFVVTQALVA LLADKGAKLR
3360 3370 3380 3390 3400
PNYDKSEVEK KGPLELANAL AACCLSSRLS SQHRQWAAQQ LVRTLAAHDR
3410 3420 3430 3440 3450
DNQTTLQTLA DMGGDLRKCS FIKLEAHQNR VMTCVWCNKK GLLATSGNDG
3460 3470 3480 3490 3500
TIRVWNVTKK QYSLQQTCVF NRLEGDAEES LGSPSDPSFS PVSWSISGKY
3510 3520 3530 3540 3550
LAGALEKMVN IWQVNGGKGL VDIQPHWVSA LAWPEEGPAT AWSGESPELL
3560 3570 3580 3590 3600
LVGRMDGSLG LIEVVDVSTM HRRELEHCYR KDVSVTCIAW FSEDRPFAVG
3610 3620 3630 3640 3650
YFDGKLLLGT KEPLEKGGIV LIDAHKDTLI SMKWDPTGHI LMTCAKEDSV
3660 3670 3680 3690 3700
KLWGSISGCW CCLHSLCHPS IVNGIAWCRL PGKGSKLQLL MATGCQSGLV
3710 3720 3730 3740 3750
CVWRIPQDTT QTNVTSAEGW WEQESNCQDG YRKSSGAKCV YQLRGHITPV
3760 3770 3780 3790 3800
RTVAFSSDGL ALVSGGLGGL MNIWSLRDGS VLQTVVIGSG AIQTTVWIPE
3810 3820 3830 3840 3850
VGVAACSNRS KDVLVVNCTA EWAAANHVLA TCRTALKQQG VLGLNMAPCM
3860 3870 3880 3890 3900
RAFLERLPMM LQEQYAYEKP HVVCGDQLVH SPYMQCLASL AVGLHLDQLL
3910 3920 3930 3940 3950
CNPPVPPHHQ NCLPDPASWN PNEWAWLECF STTIKAAEAL TNGAQFPESF
3960 3970 3980 3990 4000
TVPDLEPVPE DELVFLMDNS KWINGMDEQI MSWATSRPED WHLGGKCDVY
4010 4020 4030 4040 4050
LWGAGRHGQL AEAGRNVMVP AAAPSFSQAQ QVICGQNCTF VIQANGTVLA
4060 4070 4080 4090 4100
CGEGSYGRLG QGNSDDLHVL TVISALQGFV VTQLVTSCGS DGHSMALTES
4110 4120 4130 4140 4150
GEVFSWGDGD YGKLGHGNSD RQRRPRQIEA LQGEEVVQMS CGFKHSAVVT
4160 4170 4180 4190 4200
SDGKLFTFGN GDYGRLGLGN TSNKKLPERV TALEGYQIGQ VACGLNHTLA
4210 4220 4230 4240 4250
VSADGSMVWA FGDGDYGKLG LGNSTAKSSP QKIDVLCGIG IKKVACGTQF
4260 4270 4280 4290 4300
SVALTKDGHV YTFGQDRLIG LPEGRARNHN RPQQIPVLAG VIIEDVAVGA
4310 4320 4330 4340 4350
EHTLALASNG DVYAWGSNSE GQLGLGHTNH VREPTLVTGL QGKNVRQISA
4360 4370 4380 4390 4400
GRCHSAAWTA PPVPPRAPGV SVPLQLGLPD TVPPQYGALR EVSIHTVRAR
4410 4420 4430 4440 4450
LRLLYHFSDL MYSSWRLLNL SPNNQNSTSH YNAGTWGIVQ GQLRPLLAPR
4460 4470 4480 4490 4500
VYTLPMVRSI GKTMVQGKNY GPQITVKRIS TRGRKCKPIF VQIARQVVKL
4510 4520 4530 4540 4550
NASDLRLPSR AWKVKLVGEG ADDAGGVFDD TITEMCQELE TGIVDLLIPS
4560 4570 4580 4590 4600
PNATAEVGYN RDRFLFNPSA CLDEHLMQFK FLGILMGVAI RTKKPLDLHL
4610 4620 4630 4640 4650
APLVWKQLCC VPLTLEDLEE VDLLYVQTLN SILHIEDSGI TEESFHEMIP
4660 4670 4680 4690 4700
LDSFVGQSAD GKMVPIIPGG NSIPLTFSNR KEYVERAIEY RLHEMDRQVA
4710 4720 4730 4740 4750
AVREGMSWIV PVPLLSLLTA KQLEQMVCGM PEISVEVLKK VVRYREVDEQ
4760 4770 4780 4790 4800
HQLVQWFWHT LEEFSNEERV LFMRFVSGRS RLPANTADIS QRFQIMKVDR
4810 4820 4830 4840 4850
PYDSLPTSQT CFFQLRLPPY SSQLVMAERL RYAINNCRSI DMDNYMLSRN
4860
VDNAEGSDTD Y
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YK45 | H0YK45_HUMAN | Probable E3 ubiquitin-protein ligas... | HERC1 | 165 | Annotation score: | ||
H0YNB1 | H0YNB1_HUMAN | Probable E3 ubiquitin-protein ligas... | HERC1 | 691 | Annotation score: | ||
H0YKW7 | H0YKW7_HUMAN | Probable E3 ubiquitin-protein ligas... | HERC1 | 145 | Annotation score: | ||
H0YL74 | H0YL74_HUMAN | Probable E3 ubiquitin-protein ligas... | HERC1 | 153 | Annotation score: | ||
H0YLG2 | H0YLG2_HUMAN | Probable E3 ubiquitin-protein ligas... | HERC1 | 152 | Annotation score: | ||
H0YMH0 | H0YMH0_HUMAN | Probable E3 ubiquitin-protein ligas... | HERC1 | 47 | Annotation score: | ||
H0YL07 | H0YL07_HUMAN | Probable E3 ubiquitin-protein ligas... | HERC1 | 20 | Annotation score: | ||
H0YK60 | H0YK60_HUMAN | Probable E3 ubiquitin-protein ligas... | HERC1 | 26 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1532 | R → Q in AAD12586 (PubMed:8861955).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_042556 | 1088 | L → F. Corresponds to variant dbSNP:rs1063423Ensembl. | 1 | |
Natural variantiVAR_042557 | 1278 | L → F. Corresponds to variant dbSNP:rs3764187Ensembl. | 1 | |
Natural variantiVAR_042558 | 1411 | G → V. Corresponds to variant dbSNP:rs36089909EnsemblClinVar. | 1 | |
Natural variantiVAR_042559 | 1447 | H → N. Corresponds to variant dbSNP:rs7162519Ensembl. | 1 | |
Natural variantiVAR_042560 | 1572 | S → A. Corresponds to variant dbSNP:rs16947363EnsemblClinVar. | 1 | |
Natural variantiVAR_042561 | 1696 | G → A1 PublicationCorresponds to variant dbSNP:rs2255243Ensembl. | 1 | |
Natural variantiVAR_042562 | 1995 | T → A. Corresponds to variant dbSNP:rs2228512Ensembl. | 1 | |
Natural variantiVAR_042563 | 2220 | I → V1 PublicationCorresponds to variant dbSNP:rs2228510Ensembl. | 1 | |
Natural variantiVAR_042564 | 2816 | A → T. Corresponds to variant dbSNP:rs35122568EnsemblClinVar. | 1 | |
Natural variantiVAR_042565 | 3152 | S → F. Corresponds to variant dbSNP:rs2228513Ensembl. | 1 | |
Natural variantiVAR_081534 | 3485 | S → N De novo variant found in a patient with childhood apraxia of speech; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_042566 | 3517 | G → R. Corresponds to variant dbSNP:rs7182782Ensembl. | 1 | |
Natural variantiVAR_042567 | 3722 | E → D1 PublicationCorresponds to variant dbSNP:rs2229749Ensembl. | 1 | |
Natural variantiVAR_057122 | 4394 | I → V. Corresponds to variant dbSNP:rs2228516EnsemblClinVar. | 1 | |
Natural variantiVAR_076995 | 4520 | G → E in MDFPMR. 1 PublicationCorresponds to variant dbSNP:rs769677823EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U50078 mRNA Translation: AAD12586.1 AC073167 Genomic DNA No translation available. AC118274 Genomic DNA No translation available. BC040929 mRNA Translation: AAH40929.1 |
CCDSi | CCDS45277.1 |
PIRi | S71752 |
RefSeqi | NP_003913.3, NM_003922.3 |
Genome annotation databases
Ensembli | ENST00000443617; ENSP00000390158; ENSG00000103657 |
GeneIDi | 8925 |
KEGGi | hsa:8925 |
UCSCi | uc002amp.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U50078 mRNA Translation: AAD12586.1 AC073167 Genomic DNA No translation available. AC118274 Genomic DNA No translation available. BC040929 mRNA Translation: AAH40929.1 |
CCDSi | CCDS45277.1 |
PIRi | S71752 |
RefSeqi | NP_003913.3, NM_003922.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4O2W | X-ray | 2.00 | A/B/C/D | 3975-4360 | [»] | |
4QT6 | X-ray | 1.64 | A | 2035-2192 | [»] | |
SMRi | Q15751 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114439, 77 interactors |
CORUMi | Q15751 |
IntActi | Q15751, 41 interactors |
MINTi | Q15751 |
STRINGi | 9606.ENSP00000390158 |
PTM databases
iPTMneti | Q15751 |
MetOSitei | Q15751 |
PhosphoSitePlusi | Q15751 |
Polymorphism and mutation databases
BioMutai | HERC1 |
DMDMi | 296434522 |
Proteomic databases
EPDi | Q15751 |
jPOSTi | Q15751 |
MassIVEi | Q15751 |
MaxQBi | Q15751 |
PaxDbi | Q15751 |
PeptideAtlasi | Q15751 |
PRIDEi | Q15751 |
ProteomicsDBi | 60743 |
Protocols and materials databases
Antibodypediai | 25716, 50 antibodies |
Genome annotation databases
Ensembli | ENST00000443617; ENSP00000390158; ENSG00000103657 |
GeneIDi | 8925 |
KEGGi | hsa:8925 |
UCSCi | uc002amp.4, human |
Organism-specific databases
CTDi | 8925 |
DisGeNETi | 8925 |
EuPathDBi | HostDB:ENSG00000103657.13 |
GeneCardsi | HERC1 |
HGNCi | HGNC:4867, HERC1 |
HPAi | ENSG00000103657, Low tissue specificity |
MalaCardsi | HERC1 |
MIMi | 605109, gene 617011, phenotype |
neXtProti | NX_Q15751 |
OpenTargetsi | ENSG00000103657 |
Orphaneti | 457359, Megalencephaly-severe kyphoscoliosis-overgrowth syndrome |
PharmGKBi | PA29242 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1426, Eukaryota |
GeneTreei | ENSGT00940000155907 |
HOGENOMi | CLU_000091_0_0_1 |
InParanoidi | Q15751 |
OMAi | GVESQHQ |
OrthoDBi | 1062377at2759 |
PhylomeDBi | Q15751 |
TreeFami | TF106426 |
Enzyme and pathway databases
UniPathwayi | UPA00143 |
PathwayCommonsi | Q15751 |
Reactomei | R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation |
SignaLinki | Q15751 |
Miscellaneous databases
BioGRID-ORCSi | 8925, 15 hits in 843 CRISPR screens |
ChiTaRSi | HERC1, human |
GeneWikii | HERC1 |
GenomeRNAii | 8925 |
Pharosi | Q15751, Tbio |
PROi | PR:Q15751 |
RNActi | Q15751, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000103657, Expressed in corpus callosum and 238 other tissues |
ExpressionAtlasi | Q15751, baseline and differential |
Genevisiblei | Q15751, HS |
Family and domain databases
CDDi | cd00078, HECTc, 1 hit cd12881, SPRY_HERC1, 1 hit |
Gene3Di | 2.130.10.10, 1 hit 2.130.10.30, 2 hits 2.60.120.920, 1 hit |
InterProi | View protein in InterPro IPR001870, B30.2/SPRY IPR043136, B30.2/SPRY_sf IPR013320, ConA-like_dom_sf IPR000569, HECT_dom IPR035983, Hect_E3_ubiquitin_ligase IPR009091, RCC1/BLIP-II IPR000408, Reg_chr_condens IPR003877, SPRY_dom IPR035768, SPRY_HERC1 IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR019775, WD40_repeat_CS IPR017986, WD40_repeat_dom IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF00632, HECT, 1 hit PF00415, RCC1, 10 hits PF00622, SPRY, 1 hit PF00400, WD40, 2 hits |
PRINTSi | PR00633, RCCNDNSATION |
SMARTi | View protein in SMART SM00119, HECTc, 1 hit SM00449, SPRY, 1 hit SM00320, WD40, 5 hits |
SUPFAMi | SSF49899, SSF49899, 1 hit SSF50978, SSF50978, 2 hits SSF50985, SSF50985, 2 hits SSF56204, SSF56204, 1 hit |
PROSITEi | View protein in PROSITE PS50188, B302_SPRY, 1 hit PS50237, HECT, 1 hit PS00626, RCC1_2, 4 hits PS50012, RCC1_3, 14 hits PS00678, WD_REPEATS_1, 1 hit PS50082, WD_REPEATS_2, 3 hits PS50294, WD_REPEATS_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HERC1_HUMAN | |
Accessioni | Q15751Primary (citable) accession number: Q15751 Secondary accession number(s): Q8IW65 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 8, 2008 |
Last sequence update: | May 18, 2010 | |
Last modified: | December 2, 2020 | |
This is version 177 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations