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Entry version 168 (07 Apr 2021)
Sequence version 2 (10 May 2004)
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Protein

Phosphopantothenate--cysteine ligase

Gene

PPCS

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

Catalyzes the second step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine (PubMed:11923312, PubMed:12906824, PubMed:29754768). Has a preference for ATP over CTP as a cosubstrate (PubMed:11923312).3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: coenzyme A biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes CoA from (R)-pantothenate.2 Publications
Proteins known to be involved in the 5 steps of the subpathway in this organism are:
  1. Pantothenate kinase 3 (PANK3), Pantothenate kinase 1 (PANK1), Pantothenate kinase 2, mitochondrial (PANK2)
  2. Phosphopantothenate--cysteine ligase (PPCS)
  3. Phosphopantothenoylcysteine decarboxylase (PPCDC)
  4. Bifunctional coenzyme A synthase (COASY)
  5. Bifunctional coenzyme A synthase (COASY)
This subpathway is part of the pathway coenzyme A biosynthesis, which is itself part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes CoA from (R)-pantothenate, the pathway coenzyme A biosynthesis and in Cofactor biosynthesis.

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

GO - Biological processi

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

Molecular functionLigase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS13229-MONOMER

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9HAB8

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196783, Coenzyme A biosynthesis

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00241;UER00353

<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:
Phosphopantothenate--cysteine ligase (EC:6.3.2.512 Publications)
Alternative name(s):
Phosphopantothenoylcysteine synthetase
Short name:
PPC synthetase
<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:PPCS
Synonyms:COAB
<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:25686, PPCS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609853, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HAB8

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000127125.8

<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

<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

Cardiomyopathy, dilated 2C (CMD2C)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children.
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_081990107 – 111Missing in CMD2C; decreased phosphopantothenate--cysteine ligase activity; decreased protein abundance in patient fibroblasts. 1 Publication5
Natural variantiVAR_081991180A → P in CMD2C; loss of phosphopantothenate--cysteine ligase activity; decreased protein abundance in patient fibroblasts. 1 PublicationCorresponds to variant dbSNP:rs1557776329EnsemblClinVar.1
Natural variantiVAR_081992233E → V in CMD2C; decreased phosphopantothenate--cysteine ligase activity; decreased protein abundance in patient fibroblasts. 1 PublicationCorresponds to variant dbSNP:rs1557778277EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
79717

MalaCards human disease database

More...
MalaCardsi
PPCS
MIMi618189, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000127125

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

More...
Orphaneti
154, Familial isolated dilated cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671158

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HAB8, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PPCS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
47117318

<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%5Fprocessing%5Fsection">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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001820402 – 311Phosphopantothenate--cysteine ligaseAdd BLAST310

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

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9HAB8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9HAB8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9HAB8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9HAB8

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

More...
PaxDbi
Q9HAB8

PeptideAtlas

More...
PeptideAtlasi
Q9HAB8

PRoteomics IDEntifications database

More...
PRIDEi
Q9HAB8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
65473
81390 [Q9HAB8-1]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q9HAB8-1 [Q9HAB8-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HAB8

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

More...
PhosphoSitePlusi
Q9HAB8

<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
ENSG00000127125, Expressed in calcaneal tendon and 229 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9HAB8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9HAB8, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000127125, 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

Homodimer.

2 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

Q9HAB8
With#Exp.IntAct
itself3EBI-2827176,EBI-2827176

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
122833, 32 interactors

Protein interaction database and analysis system

More...
IntActi
Q9HAB8, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000361642

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HAB8, protein

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

Secondary structure

1311
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...
SMRi
Q9HAB8

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9HAB8

<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 PPC synthetase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2728, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182834

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_042326_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9HAB8

Identification of Orthologs from Complete Genome Data

More...
OMAi
QPFSRHY

Database of Orthologous Groups

More...
OrthoDBi
185685at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HAB8

TreeFam database of animal gene trees

More...
TreeFami
TF105615

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.10300, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035929, CoaB-like_sf
IPR007085, DNA/pantothenate-metab_flavo_C

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04127, DFP, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF102645, SSF102645, 1 hit

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

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

<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 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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: Q9HAB8-1) [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
MAEMDPVAEF PQPPGAARWA EVMARFAARL GAQGRRVVLV TSGGTKVPLE
60 70 80 90 100
ARPVRFLDNF SSGRRGATSA EAFLAAGYGV LFLYRARSAF PYAHRFPPQT
110 120 130 140 150
WLSALRPSGP ALSGLLSLEA EENALPGFAE ALRSYQEAAA AGTFLAVEFT
160 170 180 190 200
TLADYLHLLQ AAAQALNPLG PSAMFYLAAA VSDFYVPVSE MPEHKIQSSG
210 220 230 240 250
GPLQITMKMV PKLLSPLVKD WAPKAFIISF KLETDPAIVI NRARKALEIY
260 270 280 290 300
QHQVVVANIL ESRQSFVFIV TKDSETKLLL SEEEIEKGVE IEEKIVDNLQ
310
SRHTAFIGDR N
Length:311
Mass (Da):34,005
Last modified:May 10, 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:iD3B337D3250D7170
GO
Isoform 2 (identifier: Q9HAB8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-173: Missing.

Show »
Length:138
Mass (Da):15,645
Checksum:i67B9F972DCC2B60F
GO

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

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5VVM3Q5VVM3_HUMAN
Phosphopantothenate--cysteine ligas...
PPCS
213Annotation 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>
Q5VVM2Q5VVM2_HUMAN
Phosphopantothenate--cysteine ligas...
PPCS
56Annotation 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 BAB13931 differs from that shown. Reason: Frameshift.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081990107 – 111Missing in CMD2C; decreased phosphopantothenate--cysteine ligase activity; decreased protein abundance in patient fibroblasts. 1 Publication5
Natural variantiVAR_081991180A → P in CMD2C; loss of phosphopantothenate--cysteine ligase activity; decreased protein abundance in patient fibroblasts. 1 PublicationCorresponds to variant dbSNP:rs1557776329EnsemblClinVar.1
Natural variantiVAR_081992233E → V in CMD2C; decreased phosphopantothenate--cysteine ligase activity; decreased protein abundance in patient fibroblasts. 1 PublicationCorresponds to variant dbSNP:rs1557778277EnsemblClinVar.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_0457961 – 173Missing in isoform 2. 1 PublicationAdd BLAST173

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
AK021900 mRNA Translation: BAB13931.1 Frameshift.
AL445669 Genomic DNA No translation available.
BC012383 mRNA No translation available.
BC104938 mRNA Translation: AAI04939.1
BC106064 mRNA Translation: AAI06065.1
BC112015 mRNA Translation: AAI12016.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41311.1 [Q9HAB8-1]
CCDS41312.1 [Q9HAB8-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001070915.1, NM_001077447.2 [Q9HAB8-2]
NP_001274435.1, NM_001287506.1 [Q9HAB8-2]
NP_001274437.1, NM_001287508.1 [Q9HAB8-2]
NP_001274438.1, NM_001287509.1 [Q9HAB8-2]
NP_001274439.1, NM_001287510.1 [Q9HAB8-2]
NP_001274440.1, NM_001287511.1
NP_078940.2, NM_024664.3 [Q9HAB8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000372561; ENSP00000361642; ENSG00000127125 [Q9HAB8-1]
ENST00000372562; ENSP00000361643; ENSG00000127125 [Q9HAB8-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
79717

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:79717

UCSC genome browser

More...
UCSCi
uc001chl.5, human [Q9HAB8-1]

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
AK021900 mRNA Translation: BAB13931.1 Frameshift.
AL445669 Genomic DNA No translation available.
BC012383 mRNA No translation available.
BC104938 mRNA Translation: AAI04939.1
BC106064 mRNA Translation: AAI06065.1
BC112015 mRNA Translation: AAI12016.1
CCDSiCCDS41311.1 [Q9HAB8-1]
CCDS41312.1 [Q9HAB8-2]
RefSeqiNP_001070915.1, NM_001077447.2 [Q9HAB8-2]
NP_001274435.1, NM_001287506.1 [Q9HAB8-2]
NP_001274437.1, NM_001287508.1 [Q9HAB8-2]
NP_001274438.1, NM_001287509.1 [Q9HAB8-2]
NP_001274439.1, NM_001287510.1 [Q9HAB8-2]
NP_001274440.1, NM_001287511.1
NP_078940.2, NM_024664.3 [Q9HAB8-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1P9OX-ray2.30A/B1-311[»]
SMRiQ9HAB8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi122833, 32 interactors
IntActiQ9HAB8, 2 interactors
STRINGi9606.ENSP00000361642

PTM databases

iPTMnetiQ9HAB8
PhosphoSitePlusiQ9HAB8

Genetic variation databases

BioMutaiPPCS
DMDMi47117318

Proteomic databases

EPDiQ9HAB8
jPOSTiQ9HAB8
MassIVEiQ9HAB8
MaxQBiQ9HAB8
PaxDbiQ9HAB8
PeptideAtlasiQ9HAB8
PRIDEiQ9HAB8
ProteomicsDBi65473
81390 [Q9HAB8-1]
TopDownProteomicsiQ9HAB8-1 [Q9HAB8-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
32205, 85 antibodies

Genome annotation databases

EnsembliENST00000372561; ENSP00000361642; ENSG00000127125 [Q9HAB8-1]
ENST00000372562; ENSP00000361643; ENSG00000127125 [Q9HAB8-2]
GeneIDi79717
KEGGihsa:79717
UCSCiuc001chl.5, human [Q9HAB8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79717
DisGeNETi79717

GeneCards: human genes, protein and diseases

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GeneCardsi
PPCS
HGNCiHGNC:25686, PPCS
HPAiENSG00000127125, Low tissue specificity
MalaCardsiPPCS
MIMi609853, gene
618189, phenotype
neXtProtiNX_Q9HAB8
OpenTargetsiENSG00000127125
Orphaneti154, Familial isolated dilated cardiomyopathy
PharmGKBiPA142671158
VEuPathDBiHostDB:ENSG00000127125.8

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2728, Eukaryota
GeneTreeiENSGT00950000182834
HOGENOMiCLU_042326_3_0_1
InParanoidiQ9HAB8
OMAiQPFSRHY
OrthoDBi185685at2759
PhylomeDBiQ9HAB8
TreeFamiTF105615

Enzyme and pathway databases

UniPathwayiUPA00241;UER00353
BioCyciMetaCyc:HS13229-MONOMER
PathwayCommonsiQ9HAB8
ReactomeiR-HSA-196783, Coenzyme A biosynthesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
79717, 87 hits in 995 CRISPR screens
EvolutionaryTraceiQ9HAB8

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Phosphopantothenate%E2%80%94cysteine_ligase

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

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GenomeRNAii
79717
PharosiQ9HAB8, Tbio

Protein Ontology

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PROi
PR:Q9HAB8
RNActiQ9HAB8, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127125, Expressed in calcaneal tendon and 229 other tissues
ExpressionAtlasiQ9HAB8, baseline and differential
GenevisibleiQ9HAB8, HS

Family and domain databases

Gene3Di3.40.50.10300, 1 hit
InterProiView protein in InterPro
IPR035929, CoaB-like_sf
IPR007085, DNA/pantothenate-metab_flavo_C
PfamiView protein in Pfam
PF04127, DFP, 2 hits
SUPFAMiSSF102645, SSF102645, 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 nameiPPCS_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: Q9HAB8
Secondary accession number(s): Q3KQT2, Q5VVM0
<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: May 10, 2004
Last sequence update: May 10, 2004
Last modified: April 7, 2021
This is version 168 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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