Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 128 (16 Oct 2019)
Sequence version 2 (05 Jul 2004)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Post-GPI attachment to proteins factor 3

Gene

PGAP3

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

Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable).1 Publication

Miscellaneous

When transfected in S.cerevisiae, it can complement the absence of yeast of PER1 protein, suggesting a conserved role in lipid remodeling steps of GPI-anchor maturation.

<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

  • hydrolase activity, acting on ester bonds Source: UniProtKB

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 processGPI-anchor biosynthesis

<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:
Post-GPI attachment to proteins factor 3
Alternative name(s):
COS16 homolog
Short name:
hCOS16
Gene coamplified with ERBB2 protein
PER1-like domain-containing protein 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:PGAP3
Synonyms:CAB2, PERLD1
ORF Names:UNQ546/PRO1100
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23719 PGAP3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611801 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96FM1

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini21 – 98LumenalSequence analysisAdd BLAST78
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei99 – 119HelicalSequence analysisAdd BLAST21
Topological domaini120 – 135CytoplasmicSequence analysisAdd BLAST16
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Topological domaini157 – 169LumenalSequence analysisAdd BLAST13
Transmembranei170 – 190HelicalSequence analysisAdd BLAST21
Topological domaini191 – 193CytoplasmicSequence analysis3
Transmembranei194 – 214HelicalSequence analysisAdd BLAST21
Topological domaini215 – 224LumenalSequence analysis10
Transmembranei225 – 245HelicalSequence analysisAdd BLAST21
Topological domaini246 – 257CytoplasmicSequence analysisAdd BLAST12
Transmembranei258 – 278HelicalSequence analysisAdd BLAST21
Topological domaini279LumenalSequence analysis1
Transmembranei280 – 299HelicalSequence analysisAdd BLAST20
Topological domaini300 – 320CytoplasmicSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

<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

Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase.
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_07115592G → D in HPMRS4; results in loss of function; the mutant localizes to the Golgi apparatus as the wild-type. 1 PublicationCorresponds to variant dbSNP:rs587777251EnsemblClinVar.1
Natural variantiVAR_071156105P → R in HPMRS4; results in partial functional impairment; the mutant does not localize to the Golgi apparatus but is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs371549948EnsemblClinVar.1
Natural variantiVAR_071157305D → G in HPMRS4; results in partial functional impairment; the mutant does not localize to the Golgi apparatus but is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs587777252EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
93210

MalaCards human disease database

More...
MalaCardsi
PGAP3
MIMi615716 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000161395

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

More...
Orphaneti
247262 Hyperphosphatasia-intellectual disability syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA165432310

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96FM1

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PGAP3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74731724

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20Sequence analysisAdd BLAST20
<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_000033935621 – 320Post-GPI attachment to proteins factor 3Add BLAST300

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi40N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96FM1

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

More...
PaxDbi
Q96FM1

PeptideAtlas

More...
PeptideAtlasi
Q96FM1

PRoteomics IDEntifications database

More...
PRIDEi
Q96FM1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
4141
76544 [Q96FM1-1]
76545 [Q96FM1-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1621

<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

Ubiquitously expressed, with highest levels in thyroid and placenta.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000161395 Expressed in 213 organ(s), highest expression level in left lobe of thyroid gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96FM1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96FM1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA016591

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
125014, 3 interactors

Protein interaction database and analysis system

More...
IntActi
Q96FM1, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000300658

<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

<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 PGAP3 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2970 Eukaryota
COG5237 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001304

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000210016

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96FM1

KEGG Orthology (KO)

More...
KOi
K23553

Identification of Orthologs from Complete Genome Data

More...
OMAi
RFLGMQE

Database of Orthologous Groups

More...
OrthoDBi
828384at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96FM1

TreeFam database of animal gene trees

More...
TreeFami
TF300031

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007217 Per1-like

The PANTHER Classification System

More...
PANTHERi
PTHR13148 PTHR13148, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04080 Per1, 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 (3+)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 3 <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 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96FM1-1) [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
MAGLAARLVL LAGAAALASG SQGDREPVYR DCVLQCEEQN CSGGALNHFR
60 70 80 90 100
SRQPIYMSLA GWTCRDDCKY ECMWVTVGLY LQEGHKVPQF HGKWPFSRFL
110 120 130 140 150
FFQEPASAVA SFLNGLASLV MLCRYRTFVP ASSPMYHTCV AFAWVSLNAW
160 170 180 190 200
FWSTVFHTRD TDLTEKMDYF CASTVILHSI YLCCVRTVGL QHPAVVSAFR
210 220 230 240 250
ALLLLMLTVH VSYLSLIRFD YGYNLVANVA IGLVNVVWWL AWCLWNQRRL
260 270 280 290 300
PHVRKCVVVV LLLQGLSLLE LLDFPPLFWV LDAHAIWHIS TIPVHVLFFS
310 320
FLEDDSLYLL KESEDKFKLD
Length:320
Mass (Da):36,475
Last modified:July 5, 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:iA5B0E170BF969C5A
GO
Isoform 2 (identifier: Q96FM1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     94-144: Missing.

Note: No experimental confirmation available.
Show »
Length:269
Mass (Da):30,670
Checksum:i744A7AB97A288B2C
GO
Isoform 3 (identifier: Q96FM1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     145-165: Missing.

Note: No experimental confirmation available.
Show »
Length:299
Mass (Da):33,967
Checksum:iBCFFDDEF52190F79
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QQL0J3QQL0_HUMAN
Post-GPI attachment to proteins fac...
PGAP3
70Annotation score:

Annotation score:2 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>
J3QKU0J3QKU0_HUMAN
Post-GPI attachment to proteins fac...
PGAP3
148Annotation score:

Annotation score:2 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>
J3KTJ2J3KTJ2_HUMAN
Post-GPI attachment to proteins fac...
PGAP3
150Annotation score:

Annotation score:2 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>
J3QRN7J3QRN7_HUMAN
Post-GPI attachment to proteins fac...
PGAP3
44Annotation 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>
A0A087WTP0A0A087WTP0_HUMAN
Post-GPI attachment to proteins fac...
PGAP3
240Annotation 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 BAC55580 differs from that shown. Reason: Frameshift.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 conflicti153S → P in BAC11642 (PubMed:16303743).Curated1
Sequence conflicti256C → R in BAC11642 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07115592G → D in HPMRS4; results in loss of function; the mutant localizes to the Golgi apparatus as the wild-type. 1 PublicationCorresponds to variant dbSNP:rs587777251EnsemblClinVar.1
Natural variantiVAR_071156105P → R in HPMRS4; results in partial functional impairment; the mutant does not localize to the Golgi apparatus but is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs371549948EnsemblClinVar.1
Natural variantiVAR_071157305D → G in HPMRS4; results in partial functional impairment; the mutant does not localize to the Golgi apparatus but is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs587777252EnsemblClinVar.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_03415894 – 144Missing in isoform 2. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_057229145 – 165Missing in isoform 3. 1 PublicationAdd BLAST21

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
AB088396 mRNA Translation: BAC55580.1 Frameshift.
AY358437 mRNA Translation: AAQ88803.1
AK294639 mRNA Translation: BAG57818.1
AK075474 mRNA Translation: BAC11642.1
AC087491 Genomic DNA No translation available.
CH471152 Genomic DNA Translation: EAW60592.1
BC010652 mRNA Translation: AAH10652.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32641.1 [Q96FM1-1]
CCDS77013.1 [Q96FM1-2]
CCDS77015.1 [Q96FM1-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001278655.1, NM_001291726.1 [Q96FM1-2]
NP_001278657.1, NM_001291728.1 [Q96FM1-3]
NP_001278659.1, NM_001291730.1
NP_001278661.1, NM_001291732.1
NP_001278662.1, NM_001291733.1
NP_219487.3, NM_033419.4 [Q96FM1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000300658; ENSP00000300658; ENSG00000161395 [Q96FM1-1]
ENST00000378011; ENSP00000367250; ENSG00000161395 [Q96FM1-2]
ENST00000429199; ENSP00000415765; ENSG00000161395 [Q96FM1-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
93210

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:93210

UCSC genome browser

More...
UCSCi
uc002hsj.4 human [Q96FM1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AB088396 mRNA Translation: BAC55580.1 Frameshift.
AY358437 mRNA Translation: AAQ88803.1
AK294639 mRNA Translation: BAG57818.1
AK075474 mRNA Translation: BAC11642.1
AC087491 Genomic DNA No translation available.
CH471152 Genomic DNA Translation: EAW60592.1
BC010652 mRNA Translation: AAH10652.2
CCDSiCCDS32641.1 [Q96FM1-1]
CCDS77013.1 [Q96FM1-2]
CCDS77015.1 [Q96FM1-3]
RefSeqiNP_001278655.1, NM_001291726.1 [Q96FM1-2]
NP_001278657.1, NM_001291728.1 [Q96FM1-3]
NP_001278659.1, NM_001291730.1
NP_001278661.1, NM_001291732.1
NP_001278662.1, NM_001291733.1
NP_219487.3, NM_033419.4 [Q96FM1-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi125014, 3 interactors
IntActiQ96FM1, 1 interactor
STRINGi9606.ENSP00000300658

PTM databases

GlyConnecti1621

Polymorphism and mutation databases

BioMutaiPGAP3
DMDMi74731724

Proteomic databases

MassIVEiQ96FM1
PaxDbiQ96FM1
PeptideAtlasiQ96FM1
PRIDEiQ96FM1
ProteomicsDBi4141
76544 [Q96FM1-1]
76545 [Q96FM1-2]

Genome annotation databases

EnsembliENST00000300658; ENSP00000300658; ENSG00000161395 [Q96FM1-1]
ENST00000378011; ENSP00000367250; ENSG00000161395 [Q96FM1-2]
ENST00000429199; ENSP00000415765; ENSG00000161395 [Q96FM1-3]
GeneIDi93210
KEGGihsa:93210
UCSCiuc002hsj.4 human [Q96FM1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
93210
DisGeNETi93210

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PGAP3
HGNCiHGNC:23719 PGAP3
HPAiHPA016591
MalaCardsiPGAP3
MIMi611801 gene
615716 phenotype
neXtProtiNX_Q96FM1
OpenTargetsiENSG00000161395
Orphaneti247262 Hyperphosphatasia-intellectual disability syndrome
PharmGKBiPA165432310

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2970 Eukaryota
COG5237 LUCA
GeneTreeiENSGT00390000001304
HOGENOMiHOG000210016
InParanoidiQ96FM1
KOiK23553
OMAiRFLGMQE
OrthoDBi828384at2759
PhylomeDBiQ96FM1
TreeFamiTF300031

Miscellaneous databases

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

More...
ChiTaRSi
PGAP3 human

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

More...
GenomeRNAii
93210
PharosiQ96FM1

Protein Ontology

More...
PROi
PR:Q96FM1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000161395 Expressed in 213 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiQ96FM1 baseline and differential
GenevisibleiQ96FM1 HS

Family and domain databases

InterProiView protein in InterPro
IPR007217 Per1-like
PANTHERiPTHR13148 PTHR13148, 1 hit
PfamiView protein in Pfam
PF04080 Per1, 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 nameiPGAP3_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: Q96FM1
Secondary accession number(s): B4DGK7, Q86Z03, Q8NBJ8
<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: June 10, 2008
Last sequence update: July 5, 2004
Last modified: October 16, 2019
This is version 128 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 17
    Human chromosome 17: 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again