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Entry version 175 (26 Feb 2020)
Sequence version 2 (09 Jan 2007)
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Protein

Sacsin

Gene

SACS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sacsin
Alternative name(s):
DnaJ homolog subfamily C member 29
Short name:
DNAJC29
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SACS
Synonyms:KIAA0730
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10519 SACS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604490 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZJ4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic ataxia Charlevoix-Saguenay type (SACS)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064801168D → Y in SACS. 1 Publication1
Natural variantiVAR_064802201T → K in SACS. 1 Publication1
Natural variantiVAR_064803308L → F in SACS. 1 Publication1
Natural variantiVAR_064804556L → P in SACS; associated with Q-2798. 1 Publication1
Natural variantiVAR_064805802L → P in SACS. 1 Publication1
Natural variantiVAR_064806991C → R in SACS. 1 Publication1
Natural variantiVAR_0648071054F → S in SACS; atypical phenotype without spasticity or hyperreflexia. 1 PublicationCorresponds to variant dbSNP:rs137853019EnsemblClinVar.1
Natural variantiVAR_0648081311M → K in SACS. 1 Publication1
Natural variantiVAR_0648091575R → P in SACS. 1 Publication1
Natural variantiVAR_0648101587H → R in SACS. 1 Publication1
Natural variantiVAR_0648111946W → R in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853017EnsemblClinVar.1
Natural variantiVAR_0648122032Missing in SACS. 1 Publication1
Natural variantiVAR_0648132703R → C in SACS. 1 PublicationCorresponds to variant dbSNP:rs780332615Ensembl.1
Natural variantiVAR_0648142798P → Q in SACS; associated with P-556. 1 PublicationCorresponds to variant dbSNP:rs140551762EnsemblClinVar.1
Natural variantiVAR_0648152801Missing in SACS. 1 Publication1
Natural variantiVAR_0767603118P → PKLP in SACS. 1 Publication1
Natural variantiVAR_0648163248W → R in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853018EnsemblClinVar.1
Natural variantiVAR_0648173481L → P in SACS. 1 Publication1
Natural variantiVAR_0648183636R → Q in SACS; associated with T-3652. 1 PublicationCorresponds to variant dbSNP:rs281865119EnsemblClinVar.1
Natural variantiVAR_0648193645L → P in SACS. 1 Publication1
Natural variantiVAR_0648203652P → T in SACS; associated with Q-3636. 1 PublicationCorresponds to variant dbSNP:rs201505036EnsemblClinVar.1
Natural variantiVAR_0648213653F → S in SACS. 1 Publication1
Natural variantiVAR_0648224074A → P in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853016EnsemblClinVar.1
Natural variantiVAR_0648234331R → Q in SACS. 1 PublicationCorresponds to variant dbSNP:rs773009784Ensembl.1
Natural variantiVAR_0648244343E → K in SACS. 1 PublicationCorresponds to variant dbSNP:rs749383532EnsemblClinVar.1
Natural variantiVAR_0648254508K → T in SACS. 1 Publication1
Natural variantiVAR_0648264549N → D in SACS. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
26278

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SACS

MalaCards human disease database

More...
MalaCardsi
SACS
MIMi270550 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000151835

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34927

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NZJ4 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SACS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
122066060

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000975631 – 4579SacsinAdd BLAST4579

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei943N6-acetyllysineCombined sources1
Modified residuei1779PhosphoserineCombined sources1
Modified residuei2511PhosphoserineBy similarity1
Modified residuei2516PhosphothreonineBy similarity1
Modified residuei3435PhosphoserineCombined sources1
Modified residuei4261PhosphothreonineBy similarity1
Modified residuei4264PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NZJ4

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NZJ4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NZJ4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NZJ4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NZJ4

PeptideAtlas

More...
PeptideAtlasi
Q9NZJ4

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZJ4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83414 [Q9NZJ4-1]
83415 [Q9NZJ4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZJ4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NZJ4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000151835 Expressed in forebrain and 222 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NZJ4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NZJ4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB017714

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117661, 21 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NZJ4, 19 interactors

Molecular INTeraction database

More...
MINTi
Q9NZJ4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000371735

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NZJ4 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

14579
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NZJ4

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9NZJ4

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini9 – 84Ubiquitin-likePROSITE-ProRule annotationAdd BLAST76
Domaini4306 – 4393JPROSITE-ProRule annotationAdd BLAST88
Domaini4451 – 4567HEPNPROSITE-ProRule annotationAdd BLAST117

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The ubiquitin-like domain mediates interaction with the proteasome.1 Publication
The J domain is functional and is shown to stimulate E.coli dnaK ATPase activity.1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGIN Eukaryota
ENOG410XQZM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000016695

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000100_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NZJ4

KEGG Orthology (KO)

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KOi
K17592

Identification of Orthologs from Complete Genome Data

More...
OMAi
CLVKAVY

Database of Orthologous Groups

More...
OrthoDBi
1502266at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZJ4

TreeFam database of animal gene trees

More...
TreeFami
TF331145

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.287.110, 1 hit
3.30.565.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001623 DnaJ_domain
IPR036890 HATPase_C_sf
IPR007842 HEPN_dom
IPR036869 J_dom_sf
IPR000626 Ubiquitin-like_dom
IPR029071 Ubiquitin-like_domsf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05168 HEPN, 1 hit
PF00240 ubiquitin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00748 HEPN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46565 SSF46565, 1 hit
SSF54236 SSF54236, 1 hit
SSF55874 SSF55874, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50076 DNAJ_2, 1 hit
PS50910 HEPN, 1 hit
PS50053 UBIQUITIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NZJ4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
METKENRWVP VTVLPGCVGC RTVAALASWT VRDVKERIFA ETGFPVSEQR
60 70 80 90 100
LWRGGRELSD WIKIGDLTSK NCHLFVNLQS KGLKGGGRFG QTTPPLVDFL
110 120 130 140 150
KDILRRYPEG GQILKELIQN AEDAGATEVK FLYDETQYGT ETLWSKDMAP
160 170 180 190 200
YQGPALYVYN NAVFTPEDWH GIQEIARSRK KDDPLKVGRF GIGFNSVYHI
210 220 230 240 250
TDVPCIFSGD QIGMLDPHQT LFGPHESGQC WNLKDDSKEI SELSDQFAPF
260 270 280 290 300
VGIFGSTKET FINGNFPGTF FRFPLRLQPS QLSSNLYNKQ KVLELFESFR
310 320 330 340 350
ADADTVLLFL KSVQDVSLYV READGTEKLV FRVTSSESKA LKHERPNSIK
360 370 380 390 400
ILGTAISNYC KKTPSNNITC VTYHVNIVLE EESTKDAQKT SWLVCNSVGG
410 420 430 440 450
RGISSKLDSL ADELKFVPII GIAMPLSSRD DEAKGATSDF SGKAFCFLPL
460 470 480 490 500
PPGEESSTGL PVHISGFFGL TDNRRSIKWR ELDQWRDPAA LWNEFLVMNV
510 520 530 540 550
VPKAYATLIL DSIKRLEMEK SSDFPLSVDV IYKLWPEASK VKVHWQPVLE
560 570 580 590 600
PLFSELLQNA VIYSISCDWV RLEQVYFSEL DENLEYTKTV LNYLQSSGKQ
610 620 630 640 650
IAKVPGNVDA AVQLTAASGT TPVRKVTPAW VRQVLRKCAH LGCAEEKLHL
660 670 680 690 700
LEFVLSDQAY SELLGLELLP LQNGNFVPFS SSVSDQDVIY ITSAEYPRSL
710 720 730 740 750
FPSLEGRFIL DNLKPHLVAA LKEAAQTRGR PCTQLQLLNP ERFARLIKEV
760 770 780 790 800
MNTFWPGREL IVQWYPFDEN RNHPSVSWLK MVWKNLYIHF SEDLTLFDEM
810 820 830 840 850
PLIPRTILEE GQTCVELIRL RIPSLVILDD ESEAQLPEFL ADIVQKLGGF
860 870 880 890 900
VLKKLDASIQ HPLIKKYIHS PLPSAVLQIM EKMPLQKLCN QITSLLPTHK
910 920 930 940 950
DALRKFLASL TDSSEKEKRI IQELAIFKRI NHSSDQGISS YTKLKGCKVL
960 970 980 990 1000
HHTAKLPADL RLSISVIDSS DEATIRLANM LKIEQLKTTS CLKLVLKDIE
1010 1020 1030 1040 1050
NAFYSHEEVT QLMLWVLENL SSLKNENPNV LEWLTPLKFI QISQEQMVSA
1060 1070 1080 1090 1100
GELFDPDIEV LKDLFCNEEG TYFPPSVFTS PDILHSLRQI GLKNEASLKE
1110 1120 1130 1140 1150
KDVVQVAKKI EALQVGACPD QDVLLKKAKT LLLVLNKNHT LLQSSEGKMT
1160 1170 1180 1190 1200
LKKIKWVPAC KERPPNYPGS LVWKGDLCNL CAPPDMCDVG HAILIGSSLP
1210 1220 1230 1240 1250
LVESIHVNLE KALGIFTKPS LSAVLKHFKI VVDWYSSKTF SDEDYYQFQH
1260 1270 1280 1290 1300
ILLEIYGFMH DHLNEGKDSF RALKFPWVWT GKKFCPLAQA VIKPIHDLDL
1310 1320 1330 1340 1350
QPYLHNVPKT MAKFHQLFKV CGSIEELTSD HISMVIQKIY LKSDQDLSEQ
1360 1370 1380 1390 1400
ESKQNLHLML NIIRWLYSNQ IPASPNTPVP IHHSKNPSKL IMKPIHECCY
1410 1420 1430 1440 1450
CDIKVDDLND LLEDSVEPII LVHEDIPMKT AEWLKVPCLS TRLINPENMG
1460 1470 1480 1490 1500
FEQSGQREPL TVRIKNILEE YPSVSDIFKE LLQNADDANA TECSFLIDMR
1510 1520 1530 1540 1550
RNMDIRENLL DPGMAACHGP ALWSFNNSQF SDSDFVNITR LGESLKRGEV
1560 1570 1580 1590 1600
DKVGKFGLGF NSVYHITDIP IIMSREFMIM FDPNINHISK HIKDKSNPGI
1610 1620 1630 1640 1650
KINWSKQQKR LRKFPNQFKP FIDVFGCQLP LTVEAPYSYN GTLFRLSFRT
1660 1670 1680 1690 1700
QQEAKVSEVS STCYNTADIY SLVDEFSLCG HRLIIFTQSV KSMYLKYLKI
1710 1720 1730 1740 1750
EETNPSLAQD TVIIKKKSCS SKALNTPVLS VLKEAAKLMK TCSSSNKKLP
1760 1770 1780 1790 1800
SDEPKSSCIL QITVEEFHHV FRRIADLQSP LFRGPDDDPA ALFEMAKSGQ
1810 1820 1830 1840 1850
SKKPSDELSQ KTVECTTWLL CTCMDTGEAL KFSLSESGRR LGLVPCGAVG
1860 1870 1880 1890 1900
VQLSEIQDQK WTVKPHIGEV FCYLPLRIKT GLPVHINGCF AVTSNRKEIW
1910 1920 1930 1940 1950
KTDTKGRWNT TFMRHVIVKA YLQVLSVLRD LATSGELMDY TYYAVWPDPD
1960 1970 1980 1990 2000
LVHDDFSVIC QGFYEDIAHG KGKELTKVFS DGSTWVSMKN VRFLDDSILK
2010 2020 2030 2040 2050
RRDVGSAAFK IFLKYLKKTG SKNLCAVELP SSVKLGFEEA GCKQILLENT
2060 2070 2080 2090 2100
FSEKQFFSEV FFPNIQEIEA ELRDPLMIFV LNEKVDEFSG VLRVTPCIPC
2110 2120 2130 2140 2150
SLEGHPLVLP SRLIHPEGRV AKLFDIKDGR FPYGSTQDYL NPIILIKLVQ
2160 2170 2180 2190 2200
LGMAKDDILW DDMLERAVSV AEINKSDHVA ACLRSSILLS LIDEKLKIRD
2210 2220 2230 2240 2250
PRAKDFAAKY QTIRFLPFLT KPAGFSLDWK GNSFKPETMF AATDLYTAEH
2260 2270 2280 2290 2300
QDIVCLLQPI LNENSHSFRG CGSVSLAVKE FLGLLKKPTV DLVINQLKEV
2310 2320 2330 2340 2350
AKSVDDGITL YQENITNACY KYLHEALMQN EITKMSIIDK LKPFSFILVE
2360 2370 2380 2390 2400
NAYVDSEKVS FHLNFEAAPY LYQLPNKYKN NFRELFETVG VRQSCTVEDF
2410 2420 2430 2440 2450
ALVLESIDQE RGTKQITEEN FQLCRRIISE GIWSLIREKK QEFCEKNYGK
2460 2470 2480 2490 2500
ILLPDTNLML LPAKSLCYND CPWIKVKDTT VKYCHADIPR EVAVKLGAVP
2510 2520 2530 2540 2550
KRHKALERYA SNVCFTTLGT EFGQKEKLTS RIKSILNAYP SEKEMLKELL
2560 2570 2580 2590 2600
QNADDAKATE ICFVFDPRQH PVDRIFDDKW APLQGPALCV YNNQPFTEDD
2610 2620 2630 2640 2650
VRGIQNLGKG TKEGNPYKTG QYGIGFNSVY HITDCPSFIS GNDILCIFDP
2660 2670 2680 2690 2700
HARYAPGATS ISPGRMFRDL DADFRTQFSD VLDLYLGTHF KLDNCTMFRF
2710 2720 2730 2740 2750
PLRNAEMAKV SEISSVPASD RMVQNLLDKL RSDGAELLMF LNHMEKISIC
2760 2770 2780 2790 2800
EIDKSTGALN VLYSVKGKIT DGDRLKRKQF HASVIDSVTK KRQLKDIPVQ
2810 2820 2830 2840 2850
QITYTMDTED SEGNLTTWLI CNRSGFSSME KVSKSVISAH KNQDITLFPR
2860 2870 2880 2890 2900
GGVAACITHN YKKPHRAFCF LPLSLETGLP FHVNGHFALD SARRNLWRDD
2910 2920 2930 2940 2950
NGVGVRSDWN NSLMTALIAP AYVELLIQLK KRYFPGSDPT LSVLQNTPIH
2960 2970 2980 2990 3000
VVKDTLKKFL SFFPVNRLDL QPDLYCLVKA LYNCIHEDMK RLLPVVRAPN
3010 3020 3030 3040 3050
IDGSDLHSAV IITWINMSTS NKTRPFFDNL LQDELQHLKN ADYNITTRKT
3060 3070 3080 3090 3100
VAENVYRLKH LLLEIGFNLV YNCDETANLY HCLIDADIPV SYVTPADIRS
3110 3120 3130 3140 3150
FLMTFSSPDT NCHIGKLPCR LQQTNLKLFH SLKLLVDYCF KDAEENEIEV
3160 3170 3180 3190 3200
EGLPLLITLD SVLQTFDAKR PKFLTTYHEL IPSRKDLFMN TLYLKYSNIL
3210 3220 3230 3240 3250
LNCKVAKVFD ISSFADLLSS VLPREYKTKS CTKWKDNFAS ESWLKNAWHF
3260 3270 3280 3290 3300
ISESVSVKED QEETKPTFDI VVDTLKDWAL LPGTKFTVSA NQLVVPEGDV
3310 3320 3330 3340 3350
LLPLSLMHIA VFPNAQSDKV FHALMKAGCI QLALNKICSK DSAFVPLLSC
3360 3370 3380 3390 3400
HTANIESPTS ILKALHYMVQ TSTFRAEKLV ENDFEALLMY FNCNLNHLMS
3410 3420 3430 3440 3450
QDDIKILKSL PCYKSISGRY VSIGKFGTCY VLTKSIPSAE VEKWTQSSSS
3460 3470 3480 3490 3500
AFLEEKIHLK ELYEVIGCVP VDDLEVYLKH LLPKIENLSY DAKLEHLIYL
3510 3520 3530 3540 3550
KNRLSSAEEL SEIKEQLFEK LESLLIIHDA NSRLKQAKHF YDRTVRVFEV
3560 3570 3580 3590 3600
MLPEKLFIPN DFFKKLEQLI KPKNHVTFMT SWVEFLRNIG LKYILSQQQL
3610 3620 3630 3640 3650
LQFAKEISVR ANTENWSKET LQNTVDILLH HIFQERMDLL SGNFLKELSL
3660 3670 3680 3690 3700
IPFLCPERAP AEFIRFHPQY QEVNGTLPLI KFNGAQVNPK FKQCDVLQLL
3710 3720 3730 3740 3750
WTSCPILPEK ATPLSIKEQE GSDLGPQEQL EQVLNMLNVN LDPPLDKVIN
3760 3770 3780 3790 3800
NCRNICNITT LDEEMVKTRA KVLRSIYEFL SAEKREFRFQ LRGVAFVMVE
3810 3820 3830 3840 3850
DGWKLLKPEE VVINLEYESD FKPYLYKLPL ELGTFHQLFK HLGTEDIIST
3860 3870 3880 3890 3900
KQYVEVLSRI FKNSEGKQLD PNEMRTVKRV VSGLFRSLQN DSVKVRSDLE
3910 3920 3930 3940 3950
NVRDLALYLP SQDGRLVKSS ILVFDDAPHY KSRIQGNIGV QMLVDLSQCY
3960 3970 3980 3990 4000
LGKDHGFHTK LIMLFPQKLR PRLLSSILEE QLDEETPKVC QFGALCSLQG
4010 4020 4030 4040 4050
RLQLLLSSEQ FITGLIRIMK HENDNAFLAN EEKAIRLCKA LREGLKVSCF
4060 4070 4080 4090 4100
EKLQTTLRVK GFNPIPHSRS ETFAFLKRFG NAVILLYIQH SDSKDINFLL
4110 4120 4130 4140 4150
ALAMTLKSAT DNLISDTSYL IAMLGCNDIY RIGEKLDSLG VKYDSSEPSK
4160 4170 4180 4190 4200
LELPMPGTPI PAEIHYTLLM DPMNVFYPGE YVGYLVDAEG GDIYGSYQPT
4210 4220 4230 4240 4250
YTYAIIVQEV EREDADNSSF LGKIYQIDIG YSEYKIVSSL DLYKFSRPEE
4260 4270 4280 4290 4300
SSQSRDSAPS TPTSPTEFLT PGLRSIPPLF SGRESHKTSS KHQSPKKLKV
4310 4320 4330 4340 4350
NSLPEILKEV TSVVEQAWKL PESERKKIIR RLYLKWHPDK NPENHDIANE
4360 4370 4380 4390 4400
VFKHLQNEIN RLEKQAFLDQ NADRASRRTF STSASRFQSD KYSFQRFYTS
4410 4420 4430 4440 4450
WNQEATSHKS ERQQQNKEKC PPSAGQTYSQ RFFVPPTFKS VGNPVEARRW
4460 4470 4480 4490 4500
LRQARANFSA ARNDLHKNAN EWVCFKCYLS TKLALIAADY AVRGKSDKDV
4510 4520 4530 4540 4550
KPTALAQKIE EYSQQLEGLT NDVHTLEAYG VDSLKTRYPD LLPFPQIPND
4560 4570
RFTSEVAMRV MECTACIIIK LENFMQQKV
Length:4,579
Mass (Da):521,126
Last modified:January 9, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i84D7F36903F4518D
GO
Isoform 2 (identifier: Q9NZJ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-750: Missing.

Show »
Length:3,829
Mass (Da):436,976
Checksum:i7AE990311E1E3E91
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B2REB0B2REB0_HUMAN
Sacsin
SACS
750Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y6M8H0Y6M8_HUMAN
Sacsin
SACS
832Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC03486 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAH18265 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti730 – 750RPCTQ…LIKEV → FLFDEDSNGKLKMVAVLITS C in BAC03486 (PubMed:14702039).CuratedAdd BLAST21
Sequence conflicti812 – 832QTCVE…LDDES → FLFDEDSNGKLKMVAVLITS C in CAE45964 (PubMed:17974005).CuratedAdd BLAST21
Sequence conflicti1827G → R in CAH18265 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064801168D → Y in SACS. 1 Publication1
Natural variantiVAR_064802201T → K in SACS. 1 Publication1
Natural variantiVAR_059716232N → K. Corresponds to variant dbSNP:rs2031640EnsemblClinVar.1
Natural variantiVAR_064803308L → F in SACS. 1 Publication1
Natural variantiVAR_064804556L → P in SACS; associated with Q-2798. 1 Publication1
Natural variantiVAR_059717694A → T. Corresponds to variant dbSNP:rs17325713EnsemblClinVar.1
Natural variantiVAR_064805802L → P in SACS. 1 Publication1
Natural variantiVAR_064806991C → R in SACS. 1 Publication1
Natural variantiVAR_0648071054F → S in SACS; atypical phenotype without spasticity or hyperreflexia. 1 PublicationCorresponds to variant dbSNP:rs137853019EnsemblClinVar.1
Natural variantiVAR_0648081311M → K in SACS. 1 Publication1
Natural variantiVAR_0648091575R → P in SACS. 1 Publication1
Natural variantiVAR_0648101587H → R in SACS. 1 Publication1
Natural variantiVAR_0359861795M → I in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0648111946W → R in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853017EnsemblClinVar.1
Natural variantiVAR_0597182017K → N. Corresponds to variant dbSNP:rs35865691EnsemblClinVar.1
Natural variantiVAR_0648122032Missing in SACS. 1 Publication1
Natural variantiVAR_0648132703R → C in SACS. 1 PublicationCorresponds to variant dbSNP:rs780332615Ensembl.1
Natural variantiVAR_0648142798P → Q in SACS; associated with P-556. 1 PublicationCorresponds to variant dbSNP:rs140551762EnsemblClinVar.1
Natural variantiVAR_0648152801Missing in SACS. 1 Publication1
Natural variantiVAR_0597192958K → R. Corresponds to variant dbSNP:rs11839380EnsemblClinVar.1
Natural variantiVAR_0767603118P → PKLP in SACS. 1 Publication1
Natural variantiVAR_0648163248W → R in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853018EnsemblClinVar.1
Natural variantiVAR_0102963369V → A1 PublicationCorresponds to variant dbSNP:rs17078605EnsemblClinVar.1
Natural variantiVAR_0648173481L → P in SACS. 1 Publication1
Natural variantiVAR_0648183636R → Q in SACS; associated with T-3652. 1 PublicationCorresponds to variant dbSNP:rs281865119EnsemblClinVar.1
Natural variantiVAR_0648193645L → P in SACS. 1 Publication1
Natural variantiVAR_0648203652P → T in SACS; associated with Q-3636. 1 PublicationCorresponds to variant dbSNP:rs201505036EnsemblClinVar.1
Natural variantiVAR_0648213653F → S in SACS. 1 Publication1
Natural variantiVAR_0597203678P → A. Corresponds to variant dbSNP:rs17078601EnsemblClinVar.1
Natural variantiVAR_0697753702T → A Probable disease-associated mutation found in non-ataxic spastic paraplegia with peripheral neuropathy. 1 Publication1
Natural variantiVAR_0648224074A → P in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853016EnsemblClinVar.1
Natural variantiVAR_0597214217N → D. Corresponds to variant dbSNP:rs35799469EnsemblClinVar.1
Natural variantiVAR_0648234331R → Q in SACS. 1 PublicationCorresponds to variant dbSNP:rs773009784Ensembl.1
Natural variantiVAR_0648244343E → K in SACS. 1 PublicationCorresponds to variant dbSNP:rs749383532EnsemblClinVar.1
Natural variantiVAR_0648254508K → T in SACS. 1 Publication1
Natural variantiVAR_0648264549N → D in SACS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0223251 – 750Missing in isoform 2. CuratedAdd BLAST750

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF193556 Genomic DNA Translation: AAF31262.1
AL157766 Genomic DNA No translation available.
BX640926 mRNA Translation: CAE45964.1
CR749427 mRNA Translation: CAH18265.1 Different initiation.
AK090599 mRNA Translation: BAC03486.1 Different initiation.
AB018273 mRNA Translation: BAA34450.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9300.2 [Q9NZJ4-1]

NCBI Reference Sequences

More...
RefSeqi
NP_055178.3, NM_014363.5 [Q9NZJ4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000382292; ENSP00000371729; ENSG00000151835 [Q9NZJ4-1]
ENST00000402364; ENSP00000385844; ENSG00000151835 [Q9NZJ4-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26278

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26278

UCSC genome browser

More...
UCSCi
uc001uon.3 human [Q9NZJ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF193556 Genomic DNA Translation: AAF31262.1
AL157766 Genomic DNA No translation available.
BX640926 mRNA Translation: CAE45964.1
CR749427 mRNA Translation: CAH18265.1 Different initiation.
AK090599 mRNA Translation: BAC03486.1 Different initiation.
AB018273 mRNA Translation: BAA34450.1
CCDSiCCDS9300.2 [Q9NZJ4-1]
RefSeqiNP_055178.3, NM_014363.5 [Q9NZJ4-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IURNMR-A4306-4380[»]
3O10X-ray1.90A/B/C/D4440-4579[»]
5V44X-ray1.56A/B/C89-336[»]
5V45X-ray1.91A/B89-336[»]
5V46X-ray1.80A/B89-336[»]
5VSXX-ray2.10A/B2-85[»]
5VSZX-ray2.40A/B2-85[»]
SMRiQ9NZJ4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi117661, 21 interactors
IntActiQ9NZJ4, 19 interactors
MINTiQ9NZJ4
STRINGi9606.ENSP00000371735

PTM databases

iPTMnetiQ9NZJ4
PhosphoSitePlusiQ9NZJ4

Polymorphism and mutation databases

BioMutaiSACS
DMDMi122066060

Proteomic databases

EPDiQ9NZJ4
jPOSTiQ9NZJ4
MassIVEiQ9NZJ4
MaxQBiQ9NZJ4
PaxDbiQ9NZJ4
PeptideAtlasiQ9NZJ4
PRIDEiQ9NZJ4
ProteomicsDBi83414 [Q9NZJ4-1]
83415 [Q9NZJ4-2]

Genome annotation databases

EnsembliENST00000382292; ENSP00000371729; ENSG00000151835 [Q9NZJ4-1]
ENST00000402364; ENSP00000385844; ENSG00000151835 [Q9NZJ4-2]
GeneIDi26278
KEGGihsa:26278
UCSCiuc001uon.3 human [Q9NZJ4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26278
DisGeNETi26278

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SACS
GeneReviewsiSACS
HGNCiHGNC:10519 SACS
HPAiCAB017714
MalaCardsiSACS
MIMi270550 phenotype
604490 gene
neXtProtiNX_Q9NZJ4
OpenTargetsiENSG00000151835
Orphaneti98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay
PharmGKBiPA34927

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGIN Eukaryota
ENOG410XQZM LUCA
GeneTreeiENSGT00390000016695
HOGENOMiCLU_000100_0_0_1
InParanoidiQ9NZJ4
KOiK17592
OMAiCLVKAVY
OrthoDBi1502266at2759
PhylomeDBiQ9NZJ4
TreeFamiTF331145

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SACS human
EvolutionaryTraceiQ9NZJ4

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Sacsin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
26278
PharosiQ9NZJ4 Tbio

Protein Ontology

More...
PROi
PR:Q9NZJ4
RNActiQ9NZJ4 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000151835 Expressed in forebrain and 222 other tissues
ExpressionAtlasiQ9NZJ4 baseline and differential
GenevisibleiQ9NZJ4 HS

Family and domain databases

Gene3Di1.10.287.110, 1 hit
3.30.565.10, 1 hit
InterProiView protein in InterPro
IPR001623 DnaJ_domain
IPR036890 HATPase_C_sf
IPR007842 HEPN_dom
IPR036869 J_dom_sf
IPR000626 Ubiquitin-like_dom
IPR029071 Ubiquitin-like_domsf
PfamiView protein in Pfam
PF05168 HEPN, 1 hit
PF00240 ubiquitin, 1 hit
SMARTiView protein in SMART
SM00748 HEPN, 1 hit
SUPFAMiSSF46565 SSF46565, 1 hit
SSF54236 SSF54236, 1 hit
SSF55874 SSF55874, 3 hits
PROSITEiView protein in PROSITE
PS50076 DNAJ_2, 1 hit
PS50910 HEPN, 1 hit
PS50053 UBIQUITIN_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSACS_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NZJ4
Secondary accession number(s): O94835
, Q5T9J5, Q5T9J7, Q5T9J8, Q68DF5, Q6MZR4, Q8NBF9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 9, 2007
Last modified: February 26, 2020
This is version 175 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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