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Entry version 137 (07 Apr 2021)
Sequence version 1 (05 Jul 2004)
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Protein

Spindle assembly abnormal protein 6 homolog

Gene

SASS6

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

Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess foci-bearing centriolar markers. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124).4 Publications

<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 - 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

Biological processCell cycle

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6UVJ0

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q6UVJ0

<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:
Spindle assembly abnormal protein 6 homologCurated
Short name:
HsSAS-61 Publication
<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:SASS6Imported
Synonyms:SAS6
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25403, SASS6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609321, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6UVJ0

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000156876.9

<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

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<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

Microcephaly 14, primary, autosomal recessive (MCPH14)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
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_07383362I → T in MCPH14; impairs the centriole-forming function of the protein. 1 PublicationCorresponds to variant dbSNP:rs876661307EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi131F → D: Fails to multimerize via N-terminus. 1 Publication1

Keywords - Diseasei

Disease variant, Primary microcephaly

Organism-specific databases

DisGeNET

More...
DisGeNETi
163786

MalaCards human disease database

More...
MalaCardsi
SASS6
MIMi616402, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000156876

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

More...
Orphaneti
2512, Autosomal recessive primary microcephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142670950

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6UVJ0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SASS6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
62511032

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001899721 – 657Spindle assembly abnormal protein 6 homologAdd BLAST657

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 residuei510PhosphoserineCombined sources1
Modified residuei615PhosphoserineCombined sources1
Modified residuei657PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during S phase, leading to its degradation and preventing centriole reduplication. Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex, leading to its degradation and preventing centriole reduplication (PubMed:31722219).2 Publications

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6UVJ0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6UVJ0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6UVJ0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6UVJ0

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

More...
PaxDbi
Q6UVJ0

PeptideAtlas

More...
PeptideAtlasi
Q6UVJ0

PRoteomics IDEntifications database

More...
PRIDEi
Q6UVJ0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
67430

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6UVJ0

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q6UVJ0

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

More...
PhosphoSitePlusi
Q6UVJ0

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000156876, Expressed in oocyte and 160 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6UVJ0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000156876, Low tissue specificity

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Nine homodimers form a cartwheel structure with an internal diameter of 23 nM and radial spokes connecting to the microtubule triplets (By similarity).

Interacts with FBXW5 (PubMed:21725316).

Forms a complex with CENPJ and STIL (PubMed:22020124).

Interacts with NUP62 and TUBG1 at the centrosome (PubMed:24107630).

Interacts with CENATAC; the interaction increases with CENATAC acetylation (PubMed:31722219).

Interacts with FZR1; the interaction is regulated by CENATAC and leads to SASS6 proteasomal degradation (PubMed:31722219).

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
127880, 98 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1159, CPAP-STIL complex

Protein interaction database and analysis system

More...
IntActi
Q6UVJ0, 84 interactors

Molecular INTeraction database

More...
MINTi
Q6UVJ0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000287482

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6UVJ0, 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

3D structure databases

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

More...
SMRi
Q6UVJ0

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<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>Domaini39 – 91PISAAdd BLAST53

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili166 – 471Sequence analysisAdd BLAST306

<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 35 nM long coiled-coil domain mediates homodimerization while the globular N-terminus links the dimers at an angle of 40 degrees to form the inner ring.By similarity

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QQ4W, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000006932

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_018291_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6UVJ0

Identification of Orthologs from Complete Genome Data

More...
OMAi
KLRNEWT

Database of Orthologous Groups

More...
OrthoDBi
345225at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6UVJ0

TreeFam database of animal gene trees

More...
TreeFami
TF326199

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.170.210.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032396, SAS-6_N
IPR038558, SAS-6_N_sf
IPR041513, SAS6_CC

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16531, SAS-6_N, 1 hit
PF18594, Sas6_CC, 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>Sequencei

<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.

Q6UVJ0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSQVLFHQLV PLQVKCKDCE ERRVSIRMSI ELQSVSNPVH RKDLVIRLTD
60 70 80 90 100
DTDPFFLYNL VISEEDFQSL KFQQGLLVDF LAFPQKFIDL LQQCTQEHAK
110 120 130 140 150
EIPRFLLQLV SPAAILDNSP AFLNVVETNP FKHLTHLSLK LLPGNDVEIK
160 170 180 190 200
KFLAGCLKCS KEEKLSLMQS LDDATKQLDF TRKTLAEKKQ ELDKLRNEWA
210 220 230 240 250
SHTAALTNKH SQELTNEKEK ALQAQVQYQQ QHEQQKKDLE ILHQQNIHQL
260 270 280 290 300
QNRLSELEAA NKDLTERKYK GDSTIRELKA KLSGVEEELQ RTKQEVLSLR
310 320 330 340 350
RENSTLDVEC HEKEKHVNQL QTKVAVLEQE IKDKDQLVLR TKEAFDTIQE
360 370 380 390 400
QKVVLEENGE KNQVQLGKLE ATIKSLSAEL LKANEIIKKL QGDLKTLMGK
410 420 430 440 450
LKLKNTVTIQ QEKLLAEKEE KLQKEQKELQ DVGQSLRIKE QEVCKLQEQL
460 470 480 490 500
EATVKKLEES KQLLKNNEKL ITWLNKELNE NQLVRKQDVL GPSTTPPAHS
510 520 530 540 550
SSNTIRSGIS PNLNVVDGRL TYPTCGIGYP VSSAFAFQNT FPHSISAKNT
560 570 580 590 600
SHPGSGTKVQ FNLQFTKPNA SLGDVQSGAT ISMPCSTDKE NGENVGLESK
610 620 630 640 650
YLKKREDSIP LRGLSQNLFS NSDHQRDGTL GALHTSSKPT ALPSASSAYF

PGQLPNS
Length:657
Mass (Da):74,397
Last modified:July 5, 2004 - v1
<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:i6D19696BC748849F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07383362I → T in MCPH14; impairs the centriole-forming function of the protein. 1 PublicationCorresponds to variant dbSNP:rs876661307EnsemblClinVar.1
Natural variantiVAR_021590259A → V. Corresponds to variant dbSNP:rs13375867Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY359522 mRNA Translation: AAQ57128.1
AC093019 Genomic DNA No translation available.
AL445928 Genomic DNA No translation available.
CH471097 Genomic DNA Translation: EAW72974.1
CH471097 Genomic DNA Translation: EAW72975.1
AL834265 mRNA Translation: CAD38940.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS764.1

NCBI Reference Sequences

More...
RefSeqi
NP_001291758.1, NM_001304829.1
NP_919268.1, NM_194292.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000287482; ENSP00000287482; ENSG00000156876

Database of genes from NCBI RefSeq genomes

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GeneIDi
163786

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:163786

UCSC genome browser

More...
UCSCi
uc001dsu.4, human

<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
AY359522 mRNA Translation: AAQ57128.1
AC093019 Genomic DNA No translation available.
AL445928 Genomic DNA No translation available.
CH471097 Genomic DNA Translation: EAW72974.1
CH471097 Genomic DNA Translation: EAW72975.1
AL834265 mRNA Translation: CAD38940.1
CCDSiCCDS764.1
RefSeqiNP_001291758.1, NM_001304829.1
NP_919268.1, NM_194292.2

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
6Z4AX-ray1.46A1-152[»]
SMRiQ6UVJ0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi127880, 98 interactors
ComplexPortaliCPX-1159, CPAP-STIL complex
IntActiQ6UVJ0, 84 interactors
MINTiQ6UVJ0
STRINGi9606.ENSP00000287482

PTM databases

iPTMnetiQ6UVJ0
MetOSiteiQ6UVJ0
PhosphoSitePlusiQ6UVJ0

Genetic variation databases

BioMutaiSASS6
DMDMi62511032

Proteomic databases

EPDiQ6UVJ0
jPOSTiQ6UVJ0
MassIVEiQ6UVJ0
MaxQBiQ6UVJ0
PaxDbiQ6UVJ0
PeptideAtlasiQ6UVJ0
PRIDEiQ6UVJ0
ProteomicsDBi67430

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
33691, 129 antibodies

Genome annotation databases

EnsembliENST00000287482; ENSP00000287482; ENSG00000156876
GeneIDi163786
KEGGihsa:163786
UCSCiuc001dsu.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
163786
DisGeNETi163786

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SASS6
HGNCiHGNC:25403, SASS6
HPAiENSG00000156876, Low tissue specificity
MalaCardsiSASS6
MIMi609321, gene
616402, phenotype
neXtProtiNX_Q6UVJ0
OpenTargetsiENSG00000156876
Orphaneti2512, Autosomal recessive primary microcephaly
PharmGKBiPA142670950
VEuPathDBiHostDB:ENSG00000156876.9

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QQ4W, Eukaryota
GeneTreeiENSGT00390000006932
HOGENOMiCLU_018291_1_0_1
InParanoidiQ6UVJ0
OMAiKLRNEWT
OrthoDBi345225at2759
PhylomeDBiQ6UVJ0
TreeFamiTF326199

Enzyme and pathway databases

PathwayCommonsiQ6UVJ0
SIGNORiQ6UVJ0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
163786, 564 hits in 1002 CRISPR screens

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

More...
ChiTaRSi
SASS6, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SASS6

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

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GenomeRNAii
163786
PharosiQ6UVJ0, Tbio

Protein Ontology

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PROi
PR:Q6UVJ0
RNActiQ6UVJ0, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000156876, Expressed in oocyte and 160 other tissues
GenevisibleiQ6UVJ0, HS

Family and domain databases

Gene3Di2.170.210.20, 1 hit
InterProiView protein in InterPro
IPR032396, SAS-6_N
IPR038558, SAS-6_N_sf
IPR041513, SAS6_CC
PfamiView protein in Pfam
PF16531, SAS-6_N, 1 hit
PF18594, Sas6_CC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiSAS6_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: Q6UVJ0
Secondary accession number(s): D3DT55, Q8N3K0
<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: April 12, 2005
Last sequence update: July 5, 2004
Last modified: April 7, 2021
This is version 137 of the entry and version 1 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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