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Basic Information Integrated Annotations

Tag Content
iUUCD ID IUUC-Hsa-046976
Ensembl Protein ID ENSP00000371729.3
UniProt Accession Q9NZJ4; O94835; Q5T9J5; Q5T9J7; Q5T9J8; Q68DF5; Q6MZR4; Q8NBF9; SACS_HUMAN
Genbank Protein ID AAF31262.1; CAI13922.3; CAI13923.3; CAE45964.1; CAH18265.1; BAC03486.1; BAA34450.1
Protein Name Sacsin; DnaJ homolog subfamily C member 29
Genbank Nucleotide ID AF193556; AL157766; AL157766; BX640926; CR749427; AK090599; AB018273
Gene Name SACS; KIAA0730
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000151835.14 ENST00000382292.7 ENSP00000371729.3
ENSG00000151835.14 ENST00000455470.5 ENSP00000406565.1
ENSG00000151835.14 ENST00000423156.1 ENSP00000390925.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
RepTarSomamiRmiRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Variation
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosSNPPhosphositePlus
dbPTMHPRDPhospho.ELMUniProt
PHOSIDABioGRIDmUbiSiDa
DNA Methylation
MethyCancerTCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
ULD/UDP/UBQ/UBQ_Other 5.50e-06 27.8 26 67
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   ULD/UDP/UBQ/UBQ_Other

   S: 18   npsdtVaeLKekiekklgippeqqrLiykGkiLeddktLady 59
    s+tV ++Ke+i+ ++g+p+ +qrL+ G++L d+ +++d+
   Q: 26 LASWTVRDVKERIFAETGFPVSEQRLWRGGRELSDWIKIGDL 67
    6799*******************************9999987 PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.
Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.
Protein Sequence
(Fasta)
METKENRWVP VTVLPGCVGC RTVAALASWT VRDVKERIFA ETGFPVSEQR LWRGGRELSD 60
WIKIGDLTSK NCHLFVNLQS KGLKGGGRFG QTTPPLVDFL KDILRRYPEG GQILKELIQN 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-046976|ULD,UBQ_Other|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
TATCCTGAGA ACTTCCATGG GTCGCTGGAT CAGCAGGCAA CCATTATCAG ACTGGAGAGT 60
CATACTTTAA GGAATACAAA TGCAACACAC GACAATGTTT CCTGACATCA GATGATGAAT 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046976|ULD,UBQ_Other|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0007--Acetylation
KW-0025--Alternative splicing
KW-0143--Chaperone
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0225--Disease mutation
KW-0523--Neurodegeneration
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome

Interpro

IPR001623--DnaJ_domain
IPR003594--HATPase_C
IPR007842--HEPN_dom
IPR029071--Ubiquitin-rel_dom
IPR000626--Ubiquitin_dom

PROSITE

PS50076--DNAJ_2
PS50910--HEPN
PS50053--UBIQUITIN_2

Pfam

PF05168--HEPN
PF00240--ubiquitin

SMART

SM00748--HEPN

Gene Ontology

GO:0030424--C:axon
GO:0070852--C:cell body fiber
GO:0005737--C:cytoplasm
GO:0030425--C:dendrite
GO:0005739--C:mitochondrion
GO:0005634--C:nucleus
GO:0051087--F:chaperone binding
GO:0030544--F:Hsp70 protein binding
GO:0070628--F:proteasome binding
GO:0090084--P:negative regulation of inclusion body assembly
GO:0006457--P:protein folding

KEGG hsa:26278
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aca-005273 Anolis carolinensis 82.85 0.00e+00 7712.00
IUUC-Ath-007365 Arabidopsis thaliana 27.95 1.00e-120 430.00
IUUC-Ago-007792 Ashbya gossypii 34.25 1.50e-01 31.60
IUUC-Bta-012474 Bos taurus 90.54 0.00e+00 8475.00
IUUC-Bci-013669 Botrytis cinerea 28.60 7.00e-45 177.00
IUUC-Bdi-014670 Brachypodium distachyon 27.83 8.00e-73 271.00
IUUC-Bol-015478 Brassica oleracea 28.07 2.00e-113 406.00
IUUC-Bra-017001 Brassica rapa 28.13 2.00e-114 409.00
IUUC-Cja-019784 Callithrix jacchus 96.39 0.00e+00 8884.00
IUUC-Cfa-020252 Canis familiaris 95.22 0.00e+00 8787.00
IUUC-Csa-023838 Chlorocebus sabaeus 98.71 0.00e+00 9174.00
IUUC-Dre-027695 Danio rerio 26.27 2.00e-08 57.00
IUUC-Dno-029927 Dasypus novemcinctus 92.77 0.00e+00 7544.00
IUUC-Fca-035566 Felis catus 94.73 0.00e+00 8777.00
IUUC-Fal-037286 Ficedula albicollis 84.65 0.00e+00 7889.00
IUUC-Gac-041756 Gasterosteus aculeatus 69.91 0.00e+00 6555.00
IUUC-Gma-043487 Glycine max 25.57 6.00e-122 434.00
IUUC-Ggo-044728 Gorilla gorilla 99.72 0.00e+00 9252.00
IUUC-Lpe-051271 Leersia perrieri 27.17 2.00e-121 432.00
IUUC-Meu-056405 Macropus eugenii 89.00 0.00e+00 3818.00
IUUC-Mtr-058211 Medicago truncatula 28.12 1.00e-119 427.00
IUUC-Mdo-061980 Monodelphis domestica 89.73 0.00e+00 8390.00
IUUC-Mpu-066108 Mustela putorius furo 94.90 0.00e+00 8814.00
IUUC-Nle-069952 Nomascus leucogenys 98.38 0.00e+00 9095.00
IUUC-Ont-071647 Oreochromis niloticus 70.52 0.00e+00 6672.00
IUUC-Oba-075143 Oryza barthii 26.45 5.00e-134 474.00
IUUC-Ogu-078339 Oryza glumaepatula 26.40 3.00e-133 472.00
IUUC-Ome-081491 Oryza meridionalis 26.32 2.00e-134 476.00
IUUC-Oni-082255 Oryza nivara 26.50 3.00e-134 475.00
IUUC-Oru-084921 Oryza rufipogon 26.50 2.00e-134 475.00
IUUC-Ola-087035 Oryzias latipes 69.66 0.00e+00 6606.00
IUUC-Oga-089127 Otolemur garnettii 95.80 0.00e+00 8827.00
IUUC-Pan-092313 Papio anubis 98.58 0.00e+00 9175.00
IUUC-Psi-093797 Pelodiscus sinensis 85.65 0.00e+00 7936.00
IUUC-Pab-098000 Pongo abelii 99.21 0.00e+00 9211.00
IUUC-Pop-099439 Populus trichocarpa 28.04 1.00e-119 426.00
IUUC-Ppe-101533 Prunus persica 28.29 1.00e-120 430.00
IUUC-Pva-102997 Pteropus vampyrus 89.50 0.00e+00 4489.00
IUUC-Ssl-108472 Sclerotinia sclerotiorum 28.74 4.00e-29 125.00
IUUC-Smo-109559 Selaginella moellendorffii 32.17 1.00e-06 50.10
IUUC-Sit-110764 Setaria italica 27.86 9.00e-78 287.00
IUUC-Sar-113078 Sorex araneus 91.09 0.00e+00 8411.00
IUUC-Sbi-114108 Sorghum bicolor 24.61 2.00e-91 333.00
IUUC-Tni-120464 Tetraodon nigroviridis 67.55 0.00e+00 6333.00
IUUC-Tca-120945 Theobroma cacao 26.61 4.00e-125 445.00
IUUC-Ttr-128833 Tursiops truncatus 91.47 0.00e+00 8431.00
IUUC-Vvi-131667 Vitis vinifera 26.47 1.00e-130 463.00
Created Date 25-Jun-2017

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