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Protein

Phospholipase DDHD2

Gene

DDHD2

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

Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI3P), phosphatidylinositol 4-phosphate (PI4P), phosphatidylinositol 5-phosphate (PI5P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane.3 Publications

Caution

It is uncertain whether Met-1 or Met-31 is the initiator.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei351Curated1

<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

  • metal ion binding Source: InterPro
  • phospholipase activity Source: GO_Central
  • triglyceride lipase activity Source: GO_Central

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 functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1483166 Synthesis of PA

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001070

<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:
Phospholipase DDHD2 (EC:3.1.1.-)
Alternative name(s):
DDHD domain-containing protein 2
KIAA0725p
SAM, WWE and DDHD 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:DDHD2
Synonyms:KIAA0725, SAMWD1
<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 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000085788.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29106 DDHD2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615003 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O94830

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic paraplegia 54, autosomal recessive (SPG54)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG54 patients have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions.
See also OMIM:615033
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_069574660D → H in SPG54. 1 PublicationCorresponds to variant dbSNP:rs375168720EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi351S → A: Abolishes phospholipase activity. Loss of efficient targeting to the Golgi apparatus. No effect on PI(3)P-, PI(4)P-, PI(5)P-binding. 3 Publications1
Mutagenesisi434R → A: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-435 and A-436. 1 Publication1
Mutagenesisi435K → A: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-434 and A-436. 1 Publication1
Mutagenesisi436K → A: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-434 and A-435. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
23259

MalaCards human disease database

More...
MalaCardsi
DDHD2
MIMi615033 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000085788

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

More...
Orphaneti
320380 Autosomal recessive spastic paraplegia type 54

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128394618

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DDHD2

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003093301 – 711Phospholipase DDHD2Add BLAST711

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 residuei447PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O94830

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O94830

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O94830

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

More...
PaxDbi
O94830

PeptideAtlas

More...
PeptideAtlasi
O94830

PRoteomics IDEntifications database

More...
PRIDEi
O94830

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50475

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O94830

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

More...
PhosphoSitePlusi
O94830

<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

Widely expressed (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000085788 Expressed in 233 organ(s), highest expression level in primary visual cortex

CleanEx database of gene expression profiles

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CleanExi
HS_DDHD2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O94830 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O94830 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB015202
HPA023143
HPA023147

<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

Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD1.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116862, 15 interactors

Protein interaction database and analysis system

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IntActi
O94830, 4 interactors

Molecular INTeraction database

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MINTi
O94830

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000380352

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O94830

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

More...
SMRi
O94830

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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>Domaini30 – 112WWEPROSITE-ProRule annotationAdd BLAST83
Domaini385 – 448SAMAdd BLAST64
Domaini495 – 700DDHDPROSITE-ProRule annotationAdd BLAST206

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

SAM and DDHD domains together are required for phospholipid binding.

<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 PA-PLA1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2308 Eukaryota
ENOG410YDSX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156808

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007725

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG057256

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O94830

KEGG Orthology (KO)

More...
KOi
K16545

Identification of Orthologs from Complete Genome Data

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OMAi
WQNENIV

Database of Orthologous Groups

More...
OrthoDBi
777968at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O94830

TreeFam database of animal gene trees

More...
TreeFami
TF314133

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004177 DDHD_dom
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR004170 WWE-dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02862 DDHD, 1 hit
PF00536 SAM_1, 1 hit
PF02825 WWE, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01127 DDHD, 1 hit
SM00454 SAM, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47769 SSF47769, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51043 DDHD, 1 hit
PS50918 WWE, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

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

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O94830-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MSSVQSQQEQ LSQSDPSPSP NSCSSFELID MDAGSLYEPV SPHWFYCKII
60 70 80 90 100
DSKETWIPFN SEDSQQLEEA YSSGKGCNGR VVPTDGGRYD VHLGERMRYA
110 120 130 140 150
VYWDELASEV RRCTWFYKGD KDNKYVPYSE SFSQVLEETY MLAVTLDEWK
160 170 180 190 200
KKLESPNREI IILHNPKLMV HYQPVAGSDD WGSTPTEQGR PRTVKRGVEN
210 220 230 240 250
ISVDIHCGEP LQIDHLVFVV HGIGPACDLR FRSIVQCVND FRSVSLNLLQ
260 270 280 290 300
THFKKAQENQ QIGRVEFLPV NWHSPLHSTG VDVDLQRITL PSINRLRHFT
310 320 330 340 350
NDTILDVFFY NSPTYCQTIV DTVASEMNRI YTLFLQRNPD FKGGVSIAGH
360 370 380 390 400
SLGSLILFDI LTNQKDSLGD IDSEKDSLNI VMDQGDTPTL EEDLKKLQLS
410 420 430 440 450
EFFDIFEKEK VDKEALALCT DRDLQEIGIP LGPRKKILNY FSTRKNSMGI
460 470 480 490 500
KRPAPQPASG ANIPKESEFC SSSNTRNGDY LDVGIGQVSV KYPRLIYKPE
510 520 530 540 550
IFFAFGSPIG MFLTVRGLKR IDPNYRFPTC KGFFNIYHPF DPVAYRIEPM
560 570 580 590 600
VVPGVEFEPM LIPHHKGRKR MHLELREGLT RMSMDLKNNL LGSLRMAWKS
610 620 630 640 650
FTRAPYPALQ ASETPEETEA EPESTSEKPS DVNTEETSVA VKEEVLPINV
660 670 680 690 700
GMLNGGQRID YVLQEKPIES FNEYLFALQS HLCYWESEDT VLLVLKEIYQ
710
TQGIFLDQPL Q
Length:711
Mass (Da):81,032
Last modified:November 13, 2007 - 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:i8C03CD9254B1DBFB
GO
Isoform 2 (identifier: O94830-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-381: Missing.

Note: No experimental confirmation available.
Show »
Length:330
Mass (Da):37,682
Checksum:i0480B54A739F2ABD
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YF17H0YF17_HUMAN
Phospholipase DDHD2
DDHD2
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>
E9PK57E9PK57_HUMAN
Phospholipase DDHD2
DDHD2
162Annotation 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>
H0YE64H0YE64_HUMAN
Phospholipase DDHD2
DDHD2
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PIF5E9PIF5_HUMAN
Phospholipase DDHD2
DDHD2
142Annotation 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>
E9PQY9E9PQY9_HUMAN
Phospholipase DDHD2
DDHD2
156Annotation 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>
E9PPH8E9PPH8_HUMAN
Phospholipase DDHD2
DDHD2
137Annotation 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>
E9PKE6E9PKE6_HUMAN
Phospholipase DDHD2
DDHD2
222Annotation 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>
E9PM60E9PM60_HUMAN
Phospholipase DDHD2
DDHD2
161Annotation 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>
E9PPN2E9PPN2_HUMAN
Phospholipase DDHD2
DDHD2
83Annotation 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>
E9PP45E9PP45_HUMAN
Phospholipase DDHD2
DDHD2
57Annotation 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>
There is more potential isoformShow all

<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 AAH10504 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14470 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti292S → G in BAB14470 (PubMed:14702039).Curated1
Sequence conflicti376D → G in BAA34445 (PubMed:9872452).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036930186T → M1 PublicationCorresponds to variant dbSNP:rs2306899EnsemblClinVar.1
Natural variantiVAR_069574660D → H in SPG54. 1 PublicationCorresponds to variant dbSNP:rs375168720EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0560871 – 381Missing in isoform 2. 1 PublicationAdd BLAST381

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK023218 mRNA Translation: BAB14470.1 Different initiation.
AK125904 mRNA Translation: BAG54264.1
AK127040 mRNA Translation: BAG54427.1
AC084024 Genomic DNA No translation available.
AC087362 Genomic DNA No translation available.
AB018268 mRNA Translation: BAA34445.1
CH471080 Genomic DNA Translation: EAW63324.1
BC010504 mRNA Translation: AAH10504.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS34883.1 [O94830-1]

NCBI Reference Sequences

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RefSeqi
NP_001157704.1, NM_001164232.1 [O94830-1]
NP_056029.2, NM_015214.2 [O94830-1]
XP_005273511.1, XM_005273454.2
XP_005273512.1, XM_005273455.3
XP_011542758.1, XM_011544456.1 [O94830-1]
XP_016868741.1, XM_017013252.1
XP_016868742.1, XM_017013253.1
XP_016868743.1, XM_017013254.1
XP_016868744.1, XM_017013255.1 [O94830-2]
XP_016868745.1, XM_017013256.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.434966

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000397166; ENSP00000380352; ENSG00000085788 [O94830-1]
ENST00000517385; ENSP00000429017; ENSG00000085788 [O94830-2]
ENST00000520272; ENSP00000429932; ENSG00000085788 [O94830-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23259

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23259

UCSC genome browser

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UCSCi
uc003xlb.4 human [O94830-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023218 mRNA Translation: BAB14470.1 Different initiation.
AK125904 mRNA Translation: BAG54264.1
AK127040 mRNA Translation: BAG54427.1
AC084024 Genomic DNA No translation available.
AC087362 Genomic DNA No translation available.
AB018268 mRNA Translation: BAA34445.1
CH471080 Genomic DNA Translation: EAW63324.1
BC010504 mRNA Translation: AAH10504.1 Different initiation.
CCDSiCCDS34883.1 [O94830-1]
RefSeqiNP_001157704.1, NM_001164232.1 [O94830-1]
NP_056029.2, NM_015214.2 [O94830-1]
XP_005273511.1, XM_005273454.2
XP_005273512.1, XM_005273455.3
XP_011542758.1, XM_011544456.1 [O94830-1]
XP_016868741.1, XM_017013252.1
XP_016868742.1, XM_017013253.1
XP_016868743.1, XM_017013254.1
XP_016868744.1, XM_017013255.1 [O94830-2]
XP_016868745.1, XM_017013256.1
UniGeneiHs.434966

3D structure databases

ProteinModelPortaliO94830
SMRiO94830
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116862, 15 interactors
IntActiO94830, 4 interactors
MINTiO94830
STRINGi9606.ENSP00000380352

Chemistry databases

SwissLipidsiSLP:000001070

PTM databases

iPTMnetiO94830
PhosphoSitePlusiO94830

Polymorphism and mutation databases

BioMutaiDDHD2

Proteomic databases

EPDiO94830
jPOSTiO94830
MaxQBiO94830
PaxDbiO94830
PeptideAtlasiO94830
PRIDEiO94830
ProteomicsDBi50475

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
23259
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000397166; ENSP00000380352; ENSG00000085788 [O94830-1]
ENST00000517385; ENSP00000429017; ENSG00000085788 [O94830-2]
ENST00000520272; ENSP00000429932; ENSG00000085788 [O94830-1]
GeneIDi23259
KEGGihsa:23259
UCSCiuc003xlb.4 human [O94830-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23259
DisGeNETi23259
EuPathDBiHostDB:ENSG00000085788.13

GeneCards: human genes, protein and diseases

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GeneCardsi
DDHD2
HGNCiHGNC:29106 DDHD2
HPAiCAB015202
HPA023143
HPA023147
MalaCardsiDDHD2
MIMi615003 gene
615033 phenotype
neXtProtiNX_O94830
OpenTargetsiENSG00000085788
Orphaneti320380 Autosomal recessive spastic paraplegia type 54
PharmGKBiPA128394618

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2308 Eukaryota
ENOG410YDSX LUCA
GeneTreeiENSGT00940000156808
HOGENOMiHOG000007725
HOVERGENiHBG057256
InParanoidiO94830
KOiK16545
OMAiWQNENIV
OrthoDBi777968at2759
PhylomeDBiO94830
TreeFamiTF314133

Enzyme and pathway databases

ReactomeiR-HSA-1483166 Synthesis of PA

Miscellaneous databases

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

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GenomeRNAii
23259

Protein Ontology

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PROi
PR:O94830

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000085788 Expressed in 233 organ(s), highest expression level in primary visual cortex
CleanExiHS_DDHD2
ExpressionAtlasiO94830 baseline and differential
GenevisibleiO94830 HS

Family and domain databases

InterProiView protein in InterPro
IPR004177 DDHD_dom
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR004170 WWE-dom
PfamiView protein in Pfam
PF02862 DDHD, 1 hit
PF00536 SAM_1, 1 hit
PF02825 WWE, 1 hit
SMARTiView protein in SMART
SM01127 DDHD, 1 hit
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS51043 DDHD, 1 hit
PS50918 WWE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiDDHD2_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: O94830
Secondary accession number(s): B3KWV2, B3KXB5, Q9H8X7
<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 13, 2007
Last sequence update: November 13, 2007
Last modified: January 16, 2019
This is version 132 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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