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UniProtKB - Q8NEL9 (DDHD1_HUMAN)

Protein

Phospholipase DDHD1

Gene

DDHD1

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 phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity (PubMed:22922100). Required for the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:17428803).2 Publications

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 sitei537By 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

  • metal ion binding Source: InterPro
  • phospholipase activity Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • lipid catabolic process Source: UniProtKB-KW
  • positive regulation of mitochondrial fission Source: MGI
View the complete GO annotation on QuickGO ...

<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:000001079 [Q8NEL9-2]

<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 DDHD1 (EC:3.1.1.-)
Alternative name(s):
DDHD domain-containing protein 1
Phosphatidic acid-preferring phospholipase A1 homolog
Short name:
PA-PLA1
<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:DDHD1
Synonyms:KIAA1705
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000100523.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:19714 DDHD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614603 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NEL9

<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

<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 28, autosomal recessive (SPG28)1 Publication
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. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG28 patients also have distal sensory impairment.
See also OMIM:609340

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>Mutagenesisi590L → S: No effect on homooligomer formation; when associated with S-593. 1 Publication1
Mutagenesisi593I → S: No effect on homooligomer formation; when associated with S-590. 1 Publication1
Mutagenesisi662D → A: Markedly decreased enzymatic activity. 1 Publication1
Mutagenesisi848D → A: Markedly decreased enzymatic activity. 1 Publication1
Mutagenesisi867H → A: Markedly decreased enzymatic activity. 1 Publication1
Mutagenesisi875D → A: No effect on enzymatic activity. 1 Publication1

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		80821

MalaCards human disease database

More...MalaCardsi		DDHD1
MIMi609340 phenotype

Open Targets

More...OpenTargetsi		ENSG00000100523

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

More...Orphaneti		101008 Autosomal recessive spastic paraplegia type 28

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134861440

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DDHD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		37999716

<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_00000798451 – 900Phospholipase DDHD1Add BLAST900

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 residuei8PhosphoserineCombined sources1
Modified residuei11PhosphoserineCombined sources1
Modified residuei723PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NEL9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NEL9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NEL9

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

More...PaxDbi		Q8NEL9

PeptideAtlas

More...PeptideAtlasi		Q8NEL9

PRoteomics IDEntifications database

More...PRIDEi		Q8NEL9

ProteomicsDB human proteome resource

More...ProteomicsDBi		73175
73176 [Q8NEL9-2]
73177 [Q8NEL9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NEL9

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

More...PhosphoSitePlusi		Q8NEL9

<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

Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100523 Expressed in 199 organ(s), highest expression level in dorsal plus ventral thalamus

CleanEx database of gene expression profiles

More...CleanExi		HS_DDHD1

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NEL9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NEL9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA049870

<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 DDHD2 (PubMed:22922100). Interacts with SEC23A and SEC24C (PubMed:17428803).2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		123318, 22 interactors

Protein interaction database and analysis system

More...IntActi		Q8NEL9, 6 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000327104

<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		Q8NEL9

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>Domaini611 – 886DDHDPROSITE-ProRule annotationAdd BLAST276

<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		ENSGT00940000156065

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000007412

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG059037

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NEL9

KEGG Orthology (KO)

More...KOi		K13619

Identification of Orthologs from Complete Genome Data

More...OMAi		VNIERVC

Database of Orthologous Groups

More...OrthoDBi		777968at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NEL9

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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02862 DDHD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51043 DDHD, 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 (4+)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 4 <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 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NEL9-1) [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
MNYPGRGSPR SPEHNGRGGG GGAWELGSDA RPAFGGGVCC FEHLPGGDPD 
        60         70         80         90        100
DGDVPLALLR GEPGLHLAPG TDDHNHHLAL DPCLSDENYD FSSAESGSSL 
       110        120        130        140        150
RYYSEGESGG GGSSLSLHPP QQPPLVPTNS GGGGATGGSP GERKRTRLGG 
       160        170        180        190        200
PAARHRYEVV TELGPEEVRW FYKEDKKTWK PFIGYDSLRI ELAFRTLLQT 
       210        220        230        240        250
TGARPQGGDR DGDHVCSPTG PASSSGEDDD EDRACGFCQS TTGHEPEMVE 
       260        270        280        290        300
LVNIEPVCVR GGLYEVDVTQ GECYPVYWNQ ADKIPVMRGQ WFIDGTWQPL 
       310        320        330        340        350
EEEESNLIEQ EHLNCFRGQQ MQENFDIEVS KSIDGKDAVH SFKLSRNHVD 
       360        370        380        390        400
WHSVDEVYLY SDATTSKIAR TVTQKLGFSK ASSSGTRLHR GYVEEATLED 
       410        420        430        440        450
KPSQTTHIVF VVHGIGQKMD QGRIIKNTAM MREAARKIEE RHFSNHATHV 
       460        470        480        490        500
EFLPVEWRSK LTLDGDTVDS ITPDKVRGLR DMLNSSAMDI MYYTSPLYRD 
       510        520        530        540        550
ELVKGLQQEL NRLYSLFCSR NPDFEEKGGK VSIVSHSLGC VITYDIMTGW 
       560        570        580        590        600
NPVRLYEQLL QKEEELPDER WMSYEERHLL DELYITKRRL KEIEERLHGL 
       610        620        630        640        650
KASSMTQTPA LKFKVENFFC MGSPLAVFLA LRGIRPGNTG SQDHILPREI 
       660        670        680        690        700
CNRLLNIFHP TDPVAYRLEP LILKHYSNIS PVQIHWYNTS NPLPYEHMKP 
       710        720        730        740        750
SFLNPAKEPT SVSENEGIST IPSPVTSPVL SRRHYGESIT NIGKASILGA 
       760        770        780        790        800
ASIGKGLGGM LFSRFGRSST TQSSETSKDS MEDEKKPVAS PSATTVGTQT 
       810        820        830        840        850
LPHSSSGFLD SAYFRLQESF FNLPQLLFPE NVMQNKDNAL VELDHRIDFE 
       860        870        880        890        900
LREGLVESRY WSAVTSHTAY WSSLDVALFL LTFMYKHEHD DDAKPNLDPI
Length:900
Mass (Da):100,435
Last modified:October 24, 2003 - 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:iD70DAD1A73AC22B8
GO
Isoform 2 (identifier: Q8NEL9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L

Show »
Length:872
Mass (Da):97,050
Checksum:iD58636E03DB8BF78
GO
Isoform 3 (identifier: Q8NEL9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-418: Missing.
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L

Note: No experimental confirmation available.
Show »
Length:454
Mass (Da):51,554
Checksum:i06138258AEADA349
GO
Isoform 4 (identifier: Q8NEL9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     337-337: D → DGSGINYS
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L

Note: No experimental confirmation available.
Show »
Length:879
Mass (Da):97,729
Checksum:i80B36E3D1CAE627F
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
A0A087X0H7A0A087X0H7_HUMAN
Phospholipase DDHD1
DDHD1
771Annotation 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>
G3V2P6G3V2P6_HUMAN
Phospholipase DDHD1
DDHD1
92Annotation 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 BAB21796 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB71679 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 conflicti109G → GGG in AK125372 (PubMed:14702039).Curated1
Sequence conflicti675H → R in AAH30703 (PubMed:15489334).Curated1

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_0086281 – 418Missing in isoform 3. 2 PublicationsAdd BLAST418
Alternative sequenceiVSP_045340337D → DGSGINYS in isoform 4. Curated1
Alternative sequenceiVSP_008629813 – 841YFRLQ…DNALV → L in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST29

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
AB051492 mRNA Translation: BAB21796.1 Different initiation.
AK058137 mRNA Translation: BAB71679.1 Different initiation.
AK125372 mRNA No translation available.
AL352979 Genomic DNA No translation available.
AL356020 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW80623.1
BC018014 mRNA Translation: AAH18014.1
BC030703 mRNA Translation: AAH30703.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53895.1 [Q8NEL9-1]
CCDS53896.1 [Q8NEL9-4]
CCDS9714.1 [Q8NEL9-2]

NCBI Reference Sequences

More...RefSeqi		NP_001153619.1, NM_001160147.1 [Q8NEL9-4]
NP_001153620.1, NM_001160148.1 [Q8NEL9-1]
NP_085140.2, NM_030637.2 [Q8NEL9-2]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.125525

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000323669; ENSP00000327104; ENSG00000100523 [Q8NEL9-1]
ENST00000357758; ENSP00000350401; ENSG00000100523 [Q8NEL9-2]
ENST00000395606; ENSP00000378970; ENSG00000100523 [Q8NEL9-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80821

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80821

UCSC genome browser

More...UCSCi		uc001xah.4 human [Q8NEL9-1]

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
AB051492 mRNA Translation: BAB21796.1 Different initiation.
AK058137 mRNA Translation: BAB71679.1 Different initiation.
AK125372 mRNA No translation available.
AL352979 Genomic DNA No translation available.
AL356020 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW80623.1
BC018014 mRNA Translation: AAH18014.1
BC030703 mRNA Translation: AAH30703.1
CCDSiCCDS53895.1 [Q8NEL9-1]
CCDS53896.1 [Q8NEL9-4]
CCDS9714.1 [Q8NEL9-2]
RefSeqiNP_001153619.1, NM_001160147.1 [Q8NEL9-4]
NP_001153620.1, NM_001160148.1 [Q8NEL9-1]
NP_085140.2, NM_030637.2 [Q8NEL9-2]
UniGeneiHs.125525

3D structure databases

ProteinModelPortaliQ8NEL9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123318, 22 interactors
IntActiQ8NEL9, 6 interactors
STRINGi9606.ENSP00000327104

Chemistry databases

SwissLipidsiSLP:000001079 [Q8NEL9-2]

PTM databases

iPTMnetiQ8NEL9
PhosphoSitePlusiQ8NEL9

Polymorphism and mutation databases

BioMutaiDDHD1
DMDMi37999716

Proteomic databases

EPDiQ8NEL9
jPOSTiQ8NEL9
MaxQBiQ8NEL9
PaxDbiQ8NEL9
PeptideAtlasiQ8NEL9
PRIDEiQ8NEL9
ProteomicsDBi73175
73176 [Q8NEL9-2]
73177 [Q8NEL9-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323669; ENSP00000327104; ENSG00000100523 [Q8NEL9-1]
ENST00000357758; ENSP00000350401; ENSG00000100523 [Q8NEL9-2]
ENST00000395606; ENSP00000378970; ENSG00000100523 [Q8NEL9-4]
GeneIDi80821
KEGGihsa:80821
UCSCiuc001xah.4 human [Q8NEL9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80821
DisGeNETi80821
EuPathDBiHostDB:ENSG00000100523.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		DDHD1
HGNCiHGNC:19714 DDHD1
HPAiHPA049870
MalaCardsiDDHD1
MIMi609340 phenotype
614603 gene
neXtProtiNX_Q8NEL9
OpenTargetsiENSG00000100523
Orphaneti101008 Autosomal recessive spastic paraplegia type 28
PharmGKBiPA134861440

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2308 Eukaryota
ENOG410YDSX LUCA
GeneTreeiENSGT00940000156065
HOGENOMiHOG000007412
HOVERGENiHBG059037
InParanoidiQ8NEL9
KOiK13619
OMAiVNIERVC
OrthoDBi777968at2759
PhylomeDBiQ8NEL9
TreeFamiTF314133

Enzyme and pathway databases

ReactomeiR-HSA-1483166 Synthesis of PA

Miscellaneous databases

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

More...ChiTaRSi		DDHD1 human

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

More...GenomeRNAii		80821

Protein Ontology

More...PROi		PR:Q8NEL9

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100523 Expressed in 199 organ(s), highest expression level in dorsal plus ventral thalamus
CleanExiHS_DDHD1
ExpressionAtlasiQ8NEL9 baseline and differential
GenevisibleiQ8NEL9 HS

Family and domain databases

InterProiView protein in InterPro
IPR004177 DDHD_dom
PfamiView protein in Pfam
PF02862 DDHD, 1 hit
SMARTiView protein in SMART
SM01127 DDHD, 1 hit
PROSITEiView protein in PROSITE
PS51043 DDHD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...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 nameiDDHD1_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: Q8NEL9
Secondary accession number(s): G5E9D1
, Q8WVH3, Q96LL2, Q9C0F8
<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: October 24, 2003
Last sequence update: October 24, 2003
Last modified: January 16, 2019
This is version 133 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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