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Entry version 170 (29 Sep 2021)
Sequence version 1 (01 Nov 1997)
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Protein

Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C

Gene

PDE1C

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

Calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:8557689, PubMed:29860631).

Has a high affinity for both cAMP and cGMP (PubMed:8557689).

Modulates the amplitude and duration of the cAMP signal in sensory cilia in response to odorant stimulation, hence contributing to the generation of action potentials. Regulates smooth muscle cell proliferation. Regulates the stability of growth factor receptors, including PDGFRB (Probable).

1 Publication2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

a divalent metal cationBy similarityNote: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Type I PDE are activated by the binding of calmodulin in the presence of Ca2+.

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.3 µM for cAMP (isoform PDE1C2)1 Publication
  2. KM=0.6 µM for cGMP (isoform PDE1C2)1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei228Proton donorBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi232Divalent metal cation 1; via tele nitrogenBy similarity1
Metal bindingi268Divalent metal cation 1; via tele nitrogenBy similarity1
Metal bindingi269Divalent metal cation 1By similarity1
Metal bindingi269Divalent metal cation 2By similarity1
Metal bindingi376Divalent metal cation 1By similarity1

<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 functionCalmodulin-binding, Hydrolase
LigandcAMP, cGMP, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.1.4.17, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q14123

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-111957, Cam-PDE 1 activation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q14123

<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:
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C
Short name:
Cam-PDE 1C
Alternative name(s):
3',5'-cyclic-AMP phosphodiesterase (EC:3.1.4.-2 Publications)
3',5'-cyclic-GMP phosphodiesterase (EC:3.1.4.352 Publications)
Hcam31 Publication
<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:PDE1C
<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 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8776, PDE1C

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602987, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14123

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000154678

<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

Deafness, autosomal dominant, 74 (DFNA74)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by progressive, postlingual hearing loss with onset in the third decade of life.
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_081215260A → S in DFNA74; increased phosphodiesterase activity for both cAMP and cGMP with an approximately 10-fold increase in cAMP and 3-fold for cGMP compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs775633137EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease variant, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
5137

MalaCards human disease database

More...
MalaCardsi
PDE1C
MIMi618140, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000154678

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

More...
Orphaneti
90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33124

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q14123, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4619

Drug and drug target database

More...
DrugBanki
DB00201, Caffeine
DB09283, Trapidil

DrugCentral

More...
DrugCentrali
Q14123

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
1296

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PDE1C

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2499445

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001987921 – 709Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1CAdd BLAST709

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 residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q14123

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q14123

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q14123

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

More...
PaxDbi
Q14123

PeptideAtlas

More...
PeptideAtlasi
Q14123

PRoteomics IDEntifications database

More...
PRIDEi
Q14123

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
19840
59827 [Q14123-1]
59828 [Q14123-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14123

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

More...
PhosphoSitePlusi
Q14123

<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

Isoform PDE1C2 is present in the heart and brain and, at lower levels in the lung, liver, kidney and skeletal muscle (PubMed:8557689). Isoform PDE1C1 is expressed in the heart and brain and, at lower levels in lung (PubMed:8557689). Also expressed at low levels in uterus and testis (PubMed:8557689).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000154678, Expressed in corpus callosum and 176 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q14123, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q14123, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000154678, Group enriched (brain, heart muscle)

<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

Homodimer.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
111163, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q14123, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000379496

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q14123

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q14123, protein

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

3D structure databases

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

More...
SMRi
Q14123

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini151 – 528PDEasePROSITE-ProRule annotationAdd BLAST378

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>Regioni453 – 495DisorderedSequence analysisAdd BLAST43
Regioni523 – 650DisorderedSequence analysisAdd BLAST128

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi523 – 570Basic and acidic residuesSequence analysisAdd BLAST48
Compositional biasi571 – 585Polar residuesSequence analysisAdd BLAST15
Compositional biasi606 – 634Basic and acidic residuesSequence analysisAdd BLAST29
Compositional biasi635 – 650Polar residuesSequence analysisAdd BLAST16

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3688, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155331

Identification of Orthologs from Complete Genome Data

More...
OMAi
HENKAHW

Database of Orthologous Groups

More...
OrthoDBi
1167208at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14123

TreeFam database of animal gene trees

More...
TreeFami
TF314638

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00077, HDc, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.1300.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003607, HD/PDEase_dom
IPR023088, PDEase
IPR002073, PDEase_catalytic_dom
IPR036971, PDEase_catalytic_dom_sf
IPR023174, PDEase_CS
IPR013706, PDEase_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00233, PDEase_I, 1 hit
PF08499, PDEase_I_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00387, PDIESTERASE1

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00471, HDc, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00126, PDEASE_I_1, 1 hit
PS51845, PDEASE_I_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_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.

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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform PDE1C2 (identifier: Q14123-1) [UniParc]FASTAAdd to basket
Also known as: Hcam3a1 Publication, PDE1C31 Publication, HSPDE1C3A1 Publication, HSPDE1C31 Publication

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
MESPTKEIEE FESNSLKYLQ PEQIEKIWLR LRGLRKYKKT SQRLRSLVKQ
60 70 80 90 100
LERGEASVVD LKKNLEYAAT VLESVYIDET RRLLDTEDEL SDIQSDAVPS
110 120 130 140 150
EVRDWLASTF TRQMGMMLRR SDEKPRFKSI VHAVQAGIFV ERMYRRTSNM
160 170 180 190 200
VGLSYPPAVI EALKDVDKWS FDVFSLNEAS GDHALKFIFY ELLTRYDLIS
210 220 230 240 250
RFKIPISALV SFVEALEVGY SKHKNPYHNL MHAADVTQTV HYLLYKTGVA
260 270 280 290 300
NWLTELEIFA IIFSAAIHDY EHTGTTNNFH IQTRSDPAIL YNDRSVLENH
310 320 330 340 350
HLSAAYRLLQ DDEEMNILIN LSKDDWREFR TLVIEMVMAT DMSCHFQQIK
360 370 380 390 400
AMKTALQQPE AIEKPKALSL MLHTADISHP AKAWDLHHRW TMSLLEEFFR
410 420 430 440 450
QGDREAELGL PFSPLCDRKS TMVAQSQVGF IDFIVEPTFT VLTDMTEKIV
460 470 480 490 500
SPLIDETSQT GGTGQRRSSL NSISSSDAKR SGVKTSGSEG SAPINNSVIS
510 520 530 540 550
VDYKSFKATW TEVVHINRER WRAKVPKEEK AKKEAEEKAR LAAEEQQKEM
560 570 580 590 600
EAKSQAEEGA SGKAEKKTSG ETKNQVNGTR ANKSDNPRGK NSKAEKSSGE
610 620 630 640 650
QQQNGDFKDG KNKTDKKDHS NIGNDSKKTD GTKQRSHGSP APSTSSTCRL
660 670 680 690 700
TLPVIKPPLR HFKRPAYASS SYAPSVSKKT DEHPARYKML DQRIKMKKIQ

NISHNWNRK
Length:709
Mass (Da):80,760
Last modified:November 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i77133D4DDBE5F7C0
GO
Isoform PDE1C11 Publication (identifier: Q14123-2) [UniParc]FASTAAdd to basket
Also known as: Hcam3b1 Publication, HSPDE1C1A1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     631-634: GTKQ → DSQE
     635-709: Missing.

Show »
Length:634
Mass (Da):72,208
Checksum:i73F9A72EDCEAF6F7
GO
Isoform 3 (identifier: Q14123-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: MESPTKEIEE...LRLRGLRKYK → MTDAGNRKEG...PQLDSSEVLV

Show »
Length:769
Mass (Da):86,896
Checksum:i47B4A412522129DA
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MS69A0A0A0MS69_HUMAN
Phosphodiesterase
PDE1C
769Annotation score:

Annotation score:3 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>
A0A5F9ZGW6A0A5F9ZGW6_HUMAN
Calcium/calmodulin-dependent 3',5'-...
PDE1C
120Annotation 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>
F8W905F8W905_HUMAN
Calcium/calmodulin-dependent 3',5'-...
PDE1C
46Annotation 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>

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 conflicti42Q → F in BAC03734 (PubMed:14702039).Curated1
Sequence conflicti126R → L in BAC03734 (PubMed:14702039).Curated1
Isoform 3 (identifier: Q14123-3)
Sequence conflicti4A → V in BAC03734 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081215260A → S in DFNA74; increased phosphodiesterase activity for both cAMP and cGMP with an approximately 10-fold increase in cAMP and 3-fold for cGMP compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs775633137EnsemblClinVar.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_0444681 – 38MESPT…LRKYK → MTDAGNRKEGFKKCRSATFS IDGYSFTIVANEAGDKNARP LARFSRSKSQNCLWNSLIDG LTGNVKEKPRPTIVHDPRPP EEILADELPQLDSSEVLV in isoform 3. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_004552631 – 634GTKQ → DSQE in isoform PDE1C1. 1 Publication4
Alternative sequenceiVSP_004553635 – 709Missing in isoform PDE1C1. 1 PublicationAdd BLAST75

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U40371 mRNA Translation: AAC50437.1
U40372 mRNA Translation: AAA96961.1
AK056170 mRNA Translation: BAG51638.1
AK091734 mRNA Translation: BAC03734.1
AC004931 Genomic DNA No translation available.
AC005589 Genomic DNA No translation available.
AC006377 Genomic DNA No translation available.
AC007033 Genomic DNA No translation available.
AC007093 Genomic DNA No translation available.
AC018637 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5437.1 [Q14123-2]
CCDS55099.1 [Q14123-1]
CCDS55100.1 [Q14123-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001177985.1, NM_001191056.3 [Q14123-2]
NP_001177986.1, NM_001191057.3 [Q14123-1]
NP_001177987.2, NM_001191058.3
NP_001177988.1, NM_001191059.3 [Q14123-1]
NP_001308984.1, NM_001322055.1 [Q14123-1]
NP_001308985.1, NM_001322056.1 [Q14123-2]
NP_001308986.1, NM_001322057.1 [Q14123-2]
NP_001308987.1, NM_001322058.1
NP_001308988.1, NM_001322059.1
NP_005011.1, NM_005020.4 [Q14123-2]
XP_016867756.1, XM_017012267.1 [Q14123-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000321453; ENSP00000318105; ENSG00000154678 [Q14123-1]
ENST00000396182; ENSP00000379485; ENSG00000154678 [Q14123-2]
ENST00000396184; ENSP00000379487; ENSG00000154678 [Q14123-2]
ENST00000396191; ENSP00000379494; ENSG00000154678 [Q14123-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5137

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5137

UCSC genome browser

More...
UCSCi
uc003tcm.3, human [Q14123-1]

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
U40371 mRNA Translation: AAC50437.1
U40372 mRNA Translation: AAA96961.1
AK056170 mRNA Translation: BAG51638.1
AK091734 mRNA Translation: BAC03734.1
AC004931 Genomic DNA No translation available.
AC005589 Genomic DNA No translation available.
AC006377 Genomic DNA No translation available.
AC007033 Genomic DNA No translation available.
AC007093 Genomic DNA No translation available.
AC018637 Genomic DNA No translation available.
CCDSiCCDS5437.1 [Q14123-2]
CCDS55099.1 [Q14123-1]
CCDS55100.1 [Q14123-3]
RefSeqiNP_001177985.1, NM_001191056.3 [Q14123-2]
NP_001177986.1, NM_001191057.3 [Q14123-1]
NP_001177987.2, NM_001191058.3
NP_001177988.1, NM_001191059.3 [Q14123-1]
NP_001308984.1, NM_001322055.1 [Q14123-1]
NP_001308985.1, NM_001322056.1 [Q14123-2]
NP_001308986.1, NM_001322057.1 [Q14123-2]
NP_001308987.1, NM_001322058.1
NP_001308988.1, NM_001322059.1
NP_005011.1, NM_005020.4 [Q14123-2]
XP_016867756.1, XM_017012267.1 [Q14123-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LXSmodel-A163-460[»]
SMRiQ14123
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi111163, 5 interactors
IntActiQ14123, 3 interactors
STRINGi9606.ENSP00000379496

Chemistry databases

BindingDBiQ14123
ChEMBLiCHEMBL4619
DrugBankiDB00201, Caffeine
DB09283, Trapidil
DrugCentraliQ14123
GuidetoPHARMACOLOGYi1296

PTM databases

iPTMnetiQ14123
PhosphoSitePlusiQ14123

Genetic variation databases

BioMutaiPDE1C
DMDMi2499445

Proteomic databases

jPOSTiQ14123
MassIVEiQ14123
MaxQBiQ14123
PaxDbiQ14123
PeptideAtlasiQ14123
PRIDEiQ14123
ProteomicsDBi19840
59827 [Q14123-1]
59828 [Q14123-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
12721, 168 antibodies

The DNASU plasmid repository

More...
DNASUi
5137

Genome annotation databases

EnsembliENST00000321453; ENSP00000318105; ENSG00000154678 [Q14123-1]
ENST00000396182; ENSP00000379485; ENSG00000154678 [Q14123-2]
ENST00000396184; ENSP00000379487; ENSG00000154678 [Q14123-2]
ENST00000396191; ENSP00000379494; ENSG00000154678 [Q14123-1]
GeneIDi5137
KEGGihsa:5137
UCSCiuc003tcm.3, human [Q14123-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5137
DisGeNETi5137

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PDE1C
HGNCiHGNC:8776, PDE1C
HPAiENSG00000154678, Group enriched (brain, heart muscle)
MalaCardsiPDE1C
MIMi602987, gene
618140, phenotype
neXtProtiNX_Q14123
OpenTargetsiENSG00000154678
Orphaneti90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA33124
VEuPathDBiHostDB:ENSG00000154678

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3688, Eukaryota
GeneTreeiENSGT00940000155331
OMAiHENKAHW
OrthoDBi1167208at2759
PhylomeDBiQ14123
TreeFamiTF314638

Enzyme and pathway databases

BRENDAi3.1.4.17, 2681
PathwayCommonsiQ14123
ReactomeiR-HSA-111957, Cam-PDE 1 activation
SIGNORiQ14123

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
5137, 9 hits in 1006 CRISPR screens

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

More...
ChiTaRSi
PDE1C, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PDE1C

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

More...
GenomeRNAii
5137
PharosiQ14123, Tclin

Protein Ontology

More...
PROi
PR:Q14123
RNActiQ14123, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000154678, Expressed in corpus callosum and 176 other tissues
ExpressionAtlasiQ14123, baseline and differential
GenevisibleiQ14123, HS

Family and domain databases

CDDicd00077, HDc, 1 hit
Gene3Di1.10.1300.10, 1 hit
InterProiView protein in InterPro
IPR003607, HD/PDEase_dom
IPR023088, PDEase
IPR002073, PDEase_catalytic_dom
IPR036971, PDEase_catalytic_dom_sf
IPR023174, PDEase_CS
IPR013706, PDEase_N
PfamiView protein in Pfam
PF00233, PDEase_I, 1 hit
PF08499, PDEase_I_N, 1 hit
PRINTSiPR00387, PDIESTERASE1
SMARTiView protein in SMART
SM00471, HDc, 1 hit
PROSITEiView protein in PROSITE
PS00126, PDEASE_I_1, 1 hit
PS51845, PDEASE_I_2, 1 hit

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 nameiPDE1C_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: Q14123
Secondary accession number(s): B3KPC6
, E9PE92, Q14124, Q8NB10
<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: November 1, 1997
Last sequence update: November 1, 1997
Last modified: September 29, 2021
This is version 170 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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