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Entry version 148 (16 Oct 2019)
Sequence version 2 (13 Sep 2004)
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Protein

Phosphofurin acidic cluster sorting protein 1

Gene

PACS1

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

Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin-coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN.2 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 - 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

Biological processHost-virus interaction

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-164940 Nef mediated downregulation of MHC class I complex cell surface expression

SIGNOR Signaling Network Open Resource

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SIGNORi
Q6VY07

<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_and_taxonomy_section">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:
Phosphofurin acidic cluster sorting protein 1
Short name:
PACS-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:PACS1
Synonyms:KIAA1175
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30032 PACS1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607492 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6VY07

<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

Golgi apparatus

<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

Schuurs-Hoeijmakers syndrome (SHMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndromic form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. SHMS patients have intellectual disability in combination with distinct craniofacial features and genital abnormalities.
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_069534203R → W in SHMS. 1 PublicationCorresponds to variant dbSNP:rs398123009EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55690

MalaCards human disease database

More...
MalaCardsi
PACS1
MIMi615009 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000175115

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

More...
Orphaneti
329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134989529

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6VY07

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PACS1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
52000804

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00000581712 – 963Phosphofurin acidic cluster sorting protein 1Add BLAST962

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 residuei2N-acetylalanineCombined sources1
Modified residuei28PhosphoserineBy similarity1
Modified residuei46PhosphothreonineBy similarity1
Modified residuei251PhosphotyrosineBy similarity1
Modified residuei379PhosphoserineCombined sources1
Modified residuei381PhosphoserineCombined sources1
Modified residuei430PhosphoserineCombined sources1
Modified residuei495PhosphoserineCombined sources1
Modified residuei504PhosphothreonineCombined sources1
Modified residuei519PhosphoserineCombined sources1
Modified residuei528PhosphoserineBy similarity1
Modified residuei529PhosphoserineCombined sources1
Modified residuei531PhosphoserineCombined sources1
Modified residuei534PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6VY07

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6VY07

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6VY07

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6VY07

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

More...
PaxDbi
Q6VY07

PeptideAtlas

More...
PeptideAtlasi
Q6VY07

PRoteomics IDEntifications database

More...
PRIDEi
Q6VY07

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
67734 [Q6VY07-1]
67735 [Q6VY07-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6VY07

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

More...
PhosphoSitePlusi
Q6VY07

<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
ENSG00000175115 Expressed in 206 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6VY07 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6VY07 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038914

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Associates with AP-1 and AP-3 but not with AP-2 complexes (PubMed:11331585).

Interacts with FURIN (By similarity).

Forms a ternary complex with FURIN and AP-1 (PubMed:11331585).

Interacts with NPHP1; the interaction is dependent of NPHP1 phosphorylation by CK2 (PubMed:16308564).

Interacts with PKD2 (via acidic region) (PubMed:15692563).

Interacts with SORL1 (PubMed:17855360, PubMed:17646382).

By similarity5 Publications

(Microbial infection) Interacts with HIV-1 Nef.

3 Publications

(Microbial infection) Interacts with Epstein-barr virus protein BBLF1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120816, 22 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q6VY07

Protein interaction database and analysis system

More...
IntActi
Q6VY07, 15 interactors

Molecular INTeraction database

More...
MINTi
Q6VY07

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000316454

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni168 – 175Involved in binding to AP-18

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 coili353 – 377Sequence analysisAdd BLAST25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi5 – 44Gly-richAdd BLAST40
Compositional biasi35 – 40Poly-Gln6
Compositional biasi55 – 84Ser-richAdd BLAST30
Compositional biasi62 – 65Poly-Ala4
Compositional biasi112 – 115Poly-Ser4
Compositional biasi279 – 283Poly-Glu5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PACS family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3709 Eukaryota
ENOG410XQNV LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183209

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6VY07

KEGG Orthology (KO)

More...
KOi
K23290

Identification of Orthologs from Complete Genome Data

More...
OMAi
RPILGYK

Database of Orthologous Groups

More...
OrthoDBi
291515at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6VY07

TreeFam database of animal gene trees

More...
TreeFami
TF314240

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019381 Phosphofurin_acidic_CS-1

The PANTHER Classification System

More...
PANTHERi
PTHR13280 PTHR13280, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10254 Pacs-1, 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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6VY07-1) [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.

« Hide
        10         20         30         40         50
MAERGGAGGG PGGAGGGSGQ RGSGVAQSPQ QPPPQQQQQQ PPQQPTPPKL
60 70 80 90 100
AQATSSSSST SAAAASSSSS STSTSMAVAV ASGSAPPGGP GPGRTPAPVQ
110 120 130 140 150
MNLYATWEVD RSSSSCVPRL FSLTLKKLVM LKEMDKDLNS VVIAVKLQGS
160 170 180 190 200
KRILRSNEIV LPASGLVETE LQLTFSLQYP HFLKRDANKL QIMLQRRKRY
210 220 230 240 250
KNRTILGYKT LAVGLINMAE VMQHPNEGAL VLGLHSNVKD VSVPVAEIKI
260 270 280 290 300
YSLSSQPIDH EGIKSKLSDR SPDIDNYSEE EEESFSSEQE GSDDPLHGQD
310 320 330 340 350
LFYEDEDLRK VKKTRRKLTS TSAITRQPNI KQKFVALLKR FKVSDEVGFG
360 370 380 390 400
LEHVSREQIR EVEEDLDELY DSLEMYNPSD SGPEMEETES ILSTPKPKLK
410 420 430 440 450
PFFEGMSQSS SQTEIGSLNS KGSLGKDTTS PMELAALEKI KSTWIKNQDD
460 470 480 490 500
SLTETDTLEI TDQDMFGDAS TSLVVPEKVK TPMKSSKTDL QGSASPSKVE
510 520 530 540 550
GVHTPRQKRS TPLKERQLSK PLSERTNSSD SERSPDLGHS TQIPRKVVYD
560 570 580 590 600
QLNQILVSDA ALPENVILVN TTDWQGQYVA ELLQDQRKPV VCTCSTVEVQ
610 620 630 640 650
AVLSALLTRI QRYCNCNSSM PRPVKVAAVG GQSYLSSILR FFVKSLANKT
660 670 680 690 700
SDWLGYMRFL IIPLGSHPVA KYLGSVDSKY SSSFLDSGWR DLFSRSEPPV
710 720 730 740 750
SEQLDVAGRV MQYVNGAATT HQLPVAEAML TCRHKFPDED SYQKFIPFIG
760 770 780 790 800
VVKVGLVEDS PSTAGDGDDS PVVSLTVPST SPPSSSGLSR DATATPPSSP
810 820 830 840 850
SMSSALAIVG SPNSPYGDVI GLQVDYWLGH PGERRREGDK RDASSKNTLK
860 870 880 890 900
SVFRSVQVSR LPHSGEAQLS GTMAMTVVTK EKNKKVPTIF LSKKPREKEV
910 920 930 940 950
DSKSQVIEGI SRLICSAKQQ QTMLRVSIDG VEWSDIKFFQ LAAQWPTHVK
960
HFPVGLFSGS KAT
Length:963
Mass (Da):104,898
Last modified:September 13, 2004 - 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:i0F6B2CA24F7CD567
GO
Isoform 2 (identifier: Q6VY07-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     917-963: AKQQQTMLRV...VGLFSGSKAT → SPSLGPSLGP...SQKFLHRTSF

Note: No experimental confirmation available.
Show »
Length:1,008
Mass (Da):109,342
Checksum:i1BA7FD3DBFF57904
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DF77B4DF77_HUMAN
Phosphofurin acidic cluster sorting...
PACS1
499Annotation 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>
H0YE62H0YE62_HUMAN
Phosphofurin acidic cluster sorting...
PACS1
89Annotation 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>
H0YF56H0YF56_HUMAN
Phosphofurin acidic cluster sorting...
PACS1
118Annotation 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>
E9PNZ9E9PNZ9_HUMAN
Phosphofurin acidic cluster sorting...
PACS1
79Annotation 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>
E9PSG7E9PSG7_HUMAN
Phosphofurin acidic cluster sorting...
PACS1
91Annotation 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>
E9PPK2E9PPK2_HUMAN
Phosphofurin acidic cluster sorting...
PACS1
166Annotation 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>
E9PSE1E9PSE1_HUMAN
Phosphofurin acidic cluster sorting...
PACS1
76Annotation 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>
H0YCU5H0YCU5_HUMAN
Phosphofurin acidic cluster sorting...
PACS1
107Annotation 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>
E9PNG7E9PNG7_HUMAN
Phosphofurin acidic cluster sorting...
PACS1
106Annotation 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 AAH09936 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB71164 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 conflicti171 – 220Missing in BAC04831 (PubMed:14702039).CuratedAdd BLAST50
Sequence conflicti649K → M in BAA91491 (PubMed:14702039).Curated1
Sequence conflicti771P → S in BAC04831 (PubMed:14702039).Curated1
Sequence conflicti803S → N in AAQ67682 (Ref. 1) Curated1
Sequence conflicti882K → L in AAQ67682 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069534203R → W in SHMS. 1 PublicationCorresponds to variant dbSNP:rs398123009EnsemblClinVar.1
Natural variantiVAR_053797302F → L. Corresponds to variant dbSNP:rs12798852Ensembl.1

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_011557917 – 963AKQQQ…GSKAT → SPSLGPSLGPDPSSQPGFPP AGSFPPCHLPLTNPGSEPLI PDRPCSQEWLRTQGPSPALC TPQPGHLRPTAPLELFSCPL TPSQKFLHRTSF in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY320283 mRNA Translation: AAQ67682.1
AK001071 mRNA Translation: BAA91491.1
AK056361 mRNA Translation: BAB71164.1 Different initiation.
AK096644 mRNA Translation: BAC04831.1
BC003173 mRNA Translation: AAH03173.1
BC010096 mRNA Translation: AAH10096.1
BC009936 mRNA Translation: AAH09936.1 Different initiation.
BC052577 mRNA Translation: AAH52577.1
BC055288 mRNA Translation: AAH55288.1
AB033001 mRNA Translation: BAA86489.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8129.1 [Q6VY07-1]

NCBI Reference Sequences

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RefSeqi
NP_060496.2, NM_018026.3 [Q6VY07-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000320580; ENSP00000316454; ENSG00000175115 [Q6VY07-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55690

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55690

UCSC genome browser

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UCSCi
uc001oha.3 human [Q6VY07-1]

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
AY320283 mRNA Translation: AAQ67682.1
AK001071 mRNA Translation: BAA91491.1
AK056361 mRNA Translation: BAB71164.1 Different initiation.
AK096644 mRNA Translation: BAC04831.1
BC003173 mRNA Translation: AAH03173.1
BC010096 mRNA Translation: AAH10096.1
BC009936 mRNA Translation: AAH09936.1 Different initiation.
BC052577 mRNA Translation: AAH52577.1
BC055288 mRNA Translation: AAH55288.1
AB033001 mRNA Translation: BAA86489.1
CCDSiCCDS8129.1 [Q6VY07-1]
RefSeqiNP_060496.2, NM_018026.3 [Q6VY07-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi120816, 22 interactors
CORUMiQ6VY07
IntActiQ6VY07, 15 interactors
MINTiQ6VY07
STRINGi9606.ENSP00000316454

PTM databases

iPTMnetiQ6VY07
PhosphoSitePlusiQ6VY07

Polymorphism and mutation databases

BioMutaiPACS1
DMDMi52000804

Proteomic databases

EPDiQ6VY07
jPOSTiQ6VY07
MassIVEiQ6VY07
MaxQBiQ6VY07
PaxDbiQ6VY07
PeptideAtlasiQ6VY07
PRIDEiQ6VY07
ProteomicsDBi67734 [Q6VY07-1]
67735 [Q6VY07-2]

Genome annotation databases

EnsembliENST00000320580; ENSP00000316454; ENSG00000175115 [Q6VY07-1]
GeneIDi55690
KEGGihsa:55690
UCSCiuc001oha.3 human [Q6VY07-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55690
DisGeNETi55690

GeneCards: human genes, protein and diseases

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GeneCardsi
PACS1
HGNCiHGNC:30032 PACS1
HPAiHPA038914
MalaCardsiPACS1
MIMi607492 gene
615009 phenotype
neXtProtiNX_Q6VY07
OpenTargetsiENSG00000175115
Orphaneti329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
PharmGKBiPA134989529

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3709 Eukaryota
ENOG410XQNV LUCA
GeneTreeiENSGT00950000183209
InParanoidiQ6VY07
KOiK23290
OMAiRPILGYK
OrthoDBi291515at2759
PhylomeDBiQ6VY07
TreeFamiTF314240

Enzyme and pathway databases

ReactomeiR-HSA-164940 Nef mediated downregulation of MHC class I complex cell surface expression
SIGNORiQ6VY07

Miscellaneous databases

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

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ChiTaRSi
PACS1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PACS1

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

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GenomeRNAii
55690
PharosiQ6VY07

Protein Ontology

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PROi
PR:Q6VY07

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000175115 Expressed in 206 organ(s), highest expression level in testis
ExpressionAtlasiQ6VY07 baseline and differential
GenevisibleiQ6VY07 HS

Family and domain databases

InterProiView protein in InterPro
IPR019381 Phosphofurin_acidic_CS-1
PANTHERiPTHR13280 PTHR13280, 1 hit
PfamiView protein in Pfam
PF10254 Pacs-1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiPACS1_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: Q6VY07
Secondary accession number(s): Q6PJY6
, Q6PKB6, Q7Z590, Q7Z5W4, Q8N8K6, Q96MW0, Q9NW92, Q9ULP5
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: September 13, 2004
Last modified: October 16, 2019
This is version 148 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  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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