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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-045731
UUCD1 version UUC-HoS-00219
Ensembl Protein ID ENSP00000262903.4
UniProt Accession Q8IYU2; A8K6U5; B3KY89; B4DFM6; B4DTQ4; B7Z9X6; E9PGP0; Q5VU99; Q5VUA0; Q8ND12; Q9P2M6; HACE1_HUMAN
Genbank Protein ID BAA92558.1; CAD38890.1; BAG54751.1; BAF84449.1; BAG57487.1; BAG62066.1; BAH14462.1; CAH71889.1; CAH71889.1; CAH71890.1; CAH71890.1; CAH71890.1; CAH74023.1; CAH74023.1; CAH74024.1; CAH74024.1; CAH74024.1; CAI16815.1; CAI16815.1; CAI16815.1; AAH34982.1
Protein Name E3 ubiquitin-protein ligase HACE1; HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1; HECT-type E3 ubiquitin transferase HACE1
Genbank Nucleotide ID AB037741; AL834202; AK131207; AK291760; AK294164; AK300314; AK316091; AL513472; AL590402; AL513472; AL357315; AL590402; AL590402; AL513472; AL590402; AL357315; AL513472; AL357315; AL590402; AL513472; BC034982
Gene Name HACE1; KIAA1320
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000085382.11 ENST00000262903.8 ENSP00000262903.4
ENSG00000085382.11 ENST00000369125.6 ENSP00000358121.2
ENSG00000085382.11 ENST00000518402.5 ENSP00000428110.1
ENSG00000085382.11 ENST00000518503.5 ENSP00000429520.1
ENSG00000085382.11 ENST00000517424.1 ENSP00000430898.1
ENSG00000085382.11 ENST00000519645.5 ENSP00000429765.1
ENSG00000085382.11 ENST00000521962.1 ENSP00000430669.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
TargetScanmiRecordsRepTarmiRNAMap
SomamiRmiRcodeRAID2
Protein-protein Interaction
IIDPINAHINTMentha
InWeb_IM
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
dbPAFPhosphositePlusdbPTM
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 activity/HECT HECT 15254018; 20175895
Classification
Family E-value Score Start End
E3 activity/HECT 6.70e-118 395.6 576 905
Active Site
Position(s) Description Evidence
876 Glycyl thioester intermediate N/A
Domain Profile

   E3 activity/HECT
   S: 3    sdlkkrlevefvgEegldlgGvtreflallskelqnpdlglflysendketlqpnpdsglknpehlklFeflGrllgkalqdgrlldlplsk 94
           ++lk+ + v+f gEeg+++ Gv re+++ ls+e+ npd+ lf++s+ d +t+qpn++s++ np+hl++F+f+G++lg+al +++l+++ +++
   Q: 576  AKLKQGIAVRFHGEEGMGQ-GVVREWFDILSNEIVNPDYALFTQSA-DGTTFQPNSNSYV-NPDHLNYFRFAGQILGLALNHRQLVNIYFTR 664
           679999*************.**********************6666.67788*******9.89***************************** PP
   S: 95   sfyklllgkklsledleevdpelykslkeikenaesdieelgldltfsvseeilgetkeeeLkpgGenipVtneNkeeYvklvveyrlkegi 186
           sfyk++lg +++++d++++dpe++k+l++i++n   di++lgl+ltfsv+++++g ++e+ LkpgG +i Vt++Nk eYv+lv+e+r+++ i
   Q: 665  SFYKHILGIPVNYQDVASIDPEYAKNLQWILDN---DISDLGLELTFSVETDVFGAMEEVPLKPGGGSILVTQNNKAEYVQLVTELRMTRAI 753
           *******************************99...******************************************************** PP
   S: 187  keqveafreGfneviplellslFteeelellicGeeeidvedlkketkykggytedspaiqwFwevleefsseerkafLqFvTgssrlPlgG 278
           + q++af +Gf+  ip++l++lF+e elell++G++eidv+d+ k+t+y++gy++++p+iqwFwev+e++++eer  +LqFvTgssr+P+gG
   Q: 754  QPQINAFLQGFHMFIPPSLIQLFDEYELELLLSGMPEIDVSDWIKNTEYTSGYEREDPVIQWFWEVVEDITQEERVLLLQFVTGSSRVPHGG 845
           ******************************************************************************************** PP
   S: 279  faelk....prlfvirk.dasddrlPssnTCfnyLkLPeYsskeilkekLlyAieet.kg 332
           fa+++     + f+i     +++ lP+s+TC+n+LkLPeY+skeilk++Ll+A + +  g
   Q: 846  FANIMggsgLQNFTIAAvPYTPNLLPTSSTCINMLKLPEYPSKEILKDRLLVALHCGsYG 905
           *********8888888868888********************************986555 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB.
 E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB.
Protein Sequence
(Fasta)
MERAMEQLNR LTRSLRRART VELPEDNETA VYTLMPMVMA DQHRSVSELL SNSKFDVNYA 60
FGRVKRSLLH IAANCGSVEC LVLLLKKGAN PNYQDISGCT PLHLAARNGQ KKCMSKLLEY 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-045731|E3,HECT|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
AGAAGGCCAC GCGAGCCCGG GAGGGACGCG GCGGCGGGGG CTGCAGGAAA GGCGCGAGCA 60
GAGGCGGCGG CGGGTGTACT GTAGGTGGTC GGTCCGGCAG CAGCCCGGCC CCCGGACGCA 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-045731|E3,HECT|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0025--Alternative splicing
KW-0040--ANK repeat
KW-0131--Cell cycle
KW-0160--Chromosomal rearrangement
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0225--Disease mutation
KW-0256--Endoplasmic reticulum
KW-0333--Golgi apparatus
KW-0890--Hereditary spastic paraplegia
KW-0472--Membrane
KW-0523--Neurodegeneration
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0804--Transcription
KW-0805--Transcription regulation
KW-0808--Transferase
KW-0833--Ubl conjugation pathway
Interpro

IPR002110--Ankyrin_rpt
IPR020683--Ankyrin_rpt-contain_dom
IPR000569--HECT_dom
PROSITE

PS50297--ANK_REP_REGION
PS50088--ANK_REPEAT
PS50237--HECT
Pfam

PF12796--Ank_2
PF00632--HECT
PRINTS

PR01415--ANKYRIN
SMART

SM00248--ANK
SM00119--HECTc
Gene Ontology

GO:0005783--C:endoplasmic reticulum
GO:0032580--C:Golgi cisterna membrane
GO:0000139--C:Golgi membrane
GO:0017137--F:Rab GTPase binding
GO:0048365--F:Rac GTPase binding
GO:0004842--F:ubiquitin-protein transferase activity
GO:0007049--P:cell cycle
GO:0007030--P:Golgi organization
GO:0061025--P:membrane fusion
GO:0070936--P:protein K48-linked ubiquitination
GO:0016567--P:protein ubiquitination
GO:0042787--P:protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:0016601--P:Rac protein signal transduction
GO:0030334--P:regulation of cell migration
GO:0006355--P:regulation of transcription, DNA-templated
GO:0006351--P:transcription, DNA-templated
KEGG hsa:57531
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001490 Ailuropoda melanoleuca 98.25 0.00e+00 1867.00
IUUC-Apl-003400 Anas platyrhynchos 88.19 0.00e+00 1155.00
IUUC-Aca-005375 Anolis carolinensis 91.32 0.00e+00 1736.00
IUUC-Ame-011847 Astyanax mexicanus 84.87 0.00e+00 1647.00
IUUC-Bta-012831 Bos taurus 97.98 0.00e+00 1827.00
IUUC-Cja-019160 Callithrix jacchus 99.67 0.00e+00 1895.00
IUUC-Cfa-020346 Canis familiaris 98.35 0.00e+00 1875.00
IUUC-Cpo-021766 Cavia porcellus 97.47 0.00e+00 1859.00
IUUC-Csa-023768 Chlorocebus sabaeus 99.78 0.00e+00 1899.00
IUUC-Cho-024688 Choloepus hoffmanni 94.19 0.00e+00 1181.00
IUUC-Cin-025417 Ciona intestinalis 51.07 2.00e-138 486.00
IUUC-Csv-025993 Ciona savignyi 44.15 0.00e+00 759.00
IUUC-Dre-027819 Danio rerio 85.64 0.00e+00 1634.00
IUUC-Dno-029027 Dasypus novemcinctus 97.70 0.00e+00 1853.00
IUUC-Dor-030327 Dipodomys ordii 90.37 0.00e+00 1635.00
IUUC-Ete-032966 Echinops telfairi 90.77 0.00e+00 1712.00
IUUC-Eca-034339 Equus caballus 98.46 0.00e+00 1874.00
IUUC-Eeu-034544 Erinaceus europaeus 70.50 0.00e+00 698.00
IUUC-Fca-035617 Felis catus 98.30 0.00e+00 1340.00
IUUC-Fal-036687 Ficedula albicollis 91.40 0.00e+00 1767.00
IUUC-Gmo-039508 Gadus morhua 88.15 0.00e+00 832.00
IUUC-Gga-040845 Gallus gallus 91.61 0.00e+00 1785.00
IUUC-Gac-041894 Gasterosteus aculeatus 85.14 0.00e+00 1586.00
IUUC-Ggo-044465 Gorilla gorilla 96.05 0.00e+00 1819.00
IUUC-Itr-048716 Ictidomys tridecemlineatus 98.79 0.00e+00 1877.00
IUUC-Lch-050436 Latimeria chalumnae 89.27 0.00e+00 1699.00
IUUC-Loc-052287 Lepisosteus oculatus 85.49 0.00e+00 1671.00
IUUC-Laf-053846 Loxodonta africana 98.90 0.00e+00 1882.00
IUUC-Mcc-055845 Macaca mulatta 99.89 0.00e+00 1901.00
IUUC-Meu-056060 Macropus eugenii 98.27 0.00e+00 708.00
IUUC-Mga-059935 Meleagris gallopavo 94.11 0.00e+00 1763.00
IUUC-Mmr-060960 Microcebus murinus 99.12 0.00e+00 1889.00
IUUC-Mdo-061851 Monodelphis domestica 93.52 0.00e+00 1825.00
IUUC-Mmu-063657 Mus musculus 97.14 0.00e+00 1853.00
IUUC-Mpu-066161 Mustela putorius furo 99.50 0.00e+00 834.00
IUUC-Mlu-067354 Myotis lucifugus 96.47 0.00e+00 1800.00
IUUC-Nle-069112 Nomascus leucogenys 99.89 0.00e+00 1901.00
IUUC-Opr-070686 Ochotona princeps 89.52 0.00e+00 816.00
IUUC-Ont-072398 Oreochromis niloticus 84.64 0.00e+00 1586.00
IUUC-Oan-073194 Ornithorhynchus anatinus 95.66 0.00e+00 1751.00
IUUC-Ocu-074397 Oryctolagus cuniculus 86.65 0.00e+00 1586.00
IUUC-Ola-086777 Oryzias latipes 80.93 0.00e+00 1567.00
IUUC-Oga-088684 Otolemur garnettii 98.90 0.00e+00 1882.00
IUUC-Oar-089428 Ovis aries 97.88 0.00e+00 1835.00
IUUC-Ptr-090529 Pan troglodytes 99.89 0.00e+00 1901.00
IUUC-Pan-091702 Papio anubis 99.78 0.00e+00 1900.00
IUUC-Psi-093969 Pelodiscus sinensis 91.08 0.00e+00 1711.00
IUUC-Pfo-097364 Poecilia formosa 86.18 0.00e+00 1613.00
IUUC-Pab-098574 Pongo abelii 100.00 0.00e+00 1903.00
IUUC-Pca-100525 Procavia capensis 87.15 1.00e-179 623.00
IUUC-Pva-102365 Pteropus vampyrus 87.02 0.00e+00 1610.00
IUUC-Rno-105153 Rattus norvegicus 96.92 0.00e+00 1855.00
IUUC-Sha-107319 Sarcophilus harrisii 93.42 0.00e+00 1819.00
IUUC-Sar-113449 Sorex araneus 81.82 4.00e-179 622.00
IUUC-Ssc-115865 Sus scrofa 98.35 0.00e+00 1874.00
IUUC-Tgu-117225 Taeniopygia guttata 91.40 0.00e+00 1782.00
IUUC-Tru-118026 Takifugu rubripes 82.50 0.00e+00 1568.00
IUUC-Tsy-119407 Tarsius syrichta 85.92 0.00e+00 1583.00
IUUC-Tni-120234 Tetraodon nigroviridis 84.11 0.00e+00 1271.00
IUUC-Tur-126774 Triticum urartu 29.17 5.00e-46 179.00
IUUC-Tbe-127708 Tupaia belangeri 88.25 0.00e+00 880.00
IUUC-Ttr-128667 Tursiops truncatus 98.13 0.00e+00 1872.00
IUUC-Vpa-130200 Vicugna pacos 98.30 0.00e+00 1817.00
IUUC-Xtr-132176 Xenopus tropicalis 87.71 0.00e+00 1711.00
Created Date 25-Jun-2017

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