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Q8NEL9 (DDHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Gene names
Name:DDHD1
Synonyms:KIAA1705
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length900 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity. Ref.10

Subunit structure

Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD2. Ref.10

Subcellular location

Cytoplasm Ref.7.

Tissue specificity

Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain. Ref.6

Involvement in disease

Spastic paraplegia 28, autosomal recessive (SPG28) [MIM:609340]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the PA-PLA1 family.

Contains 1 DDHD domain.

Sequence caution

The sequence BAB21796.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAB71679.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processLipid degradation
Lipid metabolism
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
   DiseaseHereditary spastic paraplegia
Neurodegeneration
   Molecular functionHydrolase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell death

Inferred from electronic annotation. Source: UniProtKB-KW

lipid catabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionhydrolase activity

Inferred from electronic annotation. Source: UniProtKB-KW

metal ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NEL9-1)

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.
Isoform 2 (identifier: Q8NEL9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L
Isoform 3 (identifier: Q8NEL9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-418: Missing.
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8NEL9-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 900900Phospholipase DDHD1
PRO_0000079845

Regions

Domain611 – 886276DDHD

Sites

Active site5371 By similarity

Natural variations

Alternative sequence1 – 418418Missing in isoform 3.
VSP_008628
Alternative sequence3371D → DGSGINYS in isoform 4.
VSP_045340
Alternative sequence813 – 84129YFRLQ…DNALV → L in isoform 2, isoform 3 and isoform 4.
VSP_008629

Experimental info

Mutagenesis5901L → S: No effect on homooligomer formation; when associated with S-593. Ref.10
Mutagenesis5931I → S: No effect on homooligomer formation; when associated with S-590. Ref.10
Mutagenesis6621D → A: Markedly decreased enzymatic activity. Ref.10
Mutagenesis8481D → A: Markedly decreased enzymatic activity. Ref.10
Mutagenesis8671H → A: Markedly decreased enzymatic activity. Ref.10
Mutagenesis8751D → A: No effect on enzymatic activity. Ref.10
Sequence conflict1091G → GGG in AK125372. Ref.2
Sequence conflict6751H → R in AAH30703. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 24, 2003. Version 2.
Checksum: D70DAD1A73AC22B8

FASTA900100,435
        10         20         30         40         50         60 
MNYPGRGSPR SPEHNGRGGG GGAWELGSDA RPAFGGGVCC FEHLPGGDPD DGDVPLALLR 

        70         80         90        100        110        120 
GEPGLHLAPG TDDHNHHLAL DPCLSDENYD FSSAESGSSL RYYSEGESGG GGSSLSLHPP 

       130        140        150        160        170        180 
QQPPLVPTNS GGGGATGGSP GERKRTRLGG PAARHRYEVV TELGPEEVRW FYKEDKKTWK 

       190        200        210        220        230        240 
PFIGYDSLRI ELAFRTLLQT TGARPQGGDR DGDHVCSPTG PASSSGEDDD EDRACGFCQS 

       250        260        270        280        290        300 
TTGHEPEMVE LVNIEPVCVR GGLYEVDVTQ GECYPVYWNQ ADKIPVMRGQ WFIDGTWQPL 

       310        320        330        340        350        360 
EEEESNLIEQ EHLNCFRGQQ MQENFDIEVS KSIDGKDAVH SFKLSRNHVD WHSVDEVYLY 

       370        380        390        400        410        420 
SDATTSKIAR TVTQKLGFSK ASSSGTRLHR GYVEEATLED KPSQTTHIVF VVHGIGQKMD 

       430        440        450        460        470        480 
QGRIIKNTAM MREAARKIEE RHFSNHATHV EFLPVEWRSK LTLDGDTVDS ITPDKVRGLR 

       490        500        510        520        530        540 
DMLNSSAMDI MYYTSPLYRD ELVKGLQQEL NRLYSLFCSR NPDFEEKGGK VSIVSHSLGC 

       550        560        570        580        590        600 
VITYDIMTGW NPVRLYEQLL QKEEELPDER WMSYEERHLL DELYITKRRL KEIEERLHGL 

       610        620        630        640        650        660 
KASSMTQTPA LKFKVENFFC MGSPLAVFLA LRGIRPGNTG SQDHILPREI CNRLLNIFHP 

       670        680        690        700        710        720 
TDPVAYRLEP LILKHYSNIS PVQIHWYNTS NPLPYEHMKP SFLNPAKEPT SVSENEGIST 

       730        740        750        760        770        780 
IPSPVTSPVL SRRHYGESIT NIGKASILGA ASIGKGLGGM LFSRFGRSST TQSSETSKDS 

       790        800        810        820        830        840 
MEDEKKPVAS PSATTVGTQT LPHSSSGFLD SAYFRLQESF FNLPQLLFPE NVMQNKDNAL 

       850        860        870        880        890        900 
VELDHRIDFE LREGLVESRY WSAVTSHTAY WSSLDVALFL LTFMYKHEHD DDAKPNLDPI 

« Hide

Isoform 2 [UniParc].

Checksum: D58636E03DB8BF78
Show »

FASTA87297,050
Isoform 3 [UniParc].

Checksum: 06138258AEADA349
Show »

FASTA45451,554
Isoform 4 [UniParc].

Checksum: 80B36E3D1CAE627F
Show »

FASTA87997,729

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 357-900 (ISOFORMS 2/4).
Tissue: Fetal brain and Testis.
[3]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain and Testis.
[6]"Cloning of a phosphatidic acid-preferring phospholipase A1 from bovine testis."
Higgs H.N., Han M.H., Johnson G.E., Glomset J.A.
J. Biol. Chem. 273:5468-5477(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[7]"p125 is localized in endoplasmic reticulum exit sites and involved in their organization."
Shimoi W., Ezawa I., Nakamoto K., Uesaki S., Gabreski G., Aridor M., Yamamoto A., Nagahama M., Tagaya M., Tani K.
J. Biol. Chem. 280:10141-10148(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia."
Tesson C., Nawara M., Salih M.A., Rossignol R., Zaki M.S., Al Balwi M., Schule R., Mignot C., Obre E., Bouhouche A., Santorelli F.M., Durand C.M., Oteyza A.C., El-Hachimi K.H., Al Drees A., Bouslam N., Lamari F., Elmalik S.A. expand/collapse author list , Kabiraj M.M., Seidahmed M.Z., Esteves T., Gaussen M., Monin M.L., Gyapay G., Lechner D., Gonzalez M., Depienne C., Mochel F., Lavie J., Schols L., Lacombe D., Yahyaoui M., Al Abdulkareem I., Zuchner S., Yamashita A., Benomar A., Goizet C., Durr A., Gleeson J.G., Darios F., Brice A., Stevanin G.
Am. J. Hum. Genet. 91:1051-1064(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SPG28.
[10]"Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p."
Inoue H., Baba T., Sato S., Ohtsuki R., Takemori A., Watanabe T., Tagaya M., Tani K.
Biochim. Biophys. Acta 1823:930-939(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBUNIT, HOMOOLIGOMER FORMATION, INTERACTION WITH DDHD2, MUTAGENESIS OF LEU-590; ILE-593; ASP-662; ASP-848; HIS-867 AND ASP-875.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001153619.1. NM_001160147.1.
NP_001153620.1. NM_001160148.1.
NP_085140.2. NM_030637.2.
UniGeneHs.125525.

3D structure databases

ProteinModelPortalQ8NEL9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123318. 1 interaction.
STRING9606.ENSP00000350401.

PTM databases

PhosphoSiteQ8NEL9.

Polymorphism databases

DMDM37999716.

Proteomic databases

PaxDbQ8NEL9.
PRIDEQ8NEL9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000323669; ENSP00000327104; ENSG00000100523. [Q8NEL9-1]
ENST00000357758; ENSP00000350401; ENSG00000100523. [Q8NEL9-2]
ENST00000395606; ENSP00000378970; ENSG00000100523. [Q8NEL9-4]
GeneID80821.
KEGGhsa:80821.
UCSCuc001xag.3. human. [Q8NEL9-3]
uc001xah.3. human. [Q8NEL9-2]
uc001xai.3. human. [Q8NEL9-1]
uc001xaj.3. human.

Organism-specific databases

CTD80821.
GeneCardsGC14M053510.
HGNCHGNC:19714. DDHD1.
HPAHPA049870.
MIM609340. phenotype.
614603. gene.
neXtProtNX_Q8NEL9.
Orphanet101008. Autosomal recessive spastic paraplegia type 28.
PharmGKBPA134861440.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG285690.
HOGENOMHOG000007412.
HOVERGENHBG059037.
InParanoidQ8NEL9.
KOK13619.
OMAHLALDPC.
OrthoDBEOG790G09.
PhylomeDBQ8NEL9.
TreeFamTF314133.

Gene expression databases

ArrayExpressQ8NEL9.
BgeeQ8NEL9.
CleanExHS_DDHD1.
GenevestigatorQ8NEL9.

Family and domain databases

InterProIPR004177. DDHD.
[Graphical view]
PfamPF02862. DDHD. 1 hit.
[Graphical view]
PROSITEPS51043. DDHD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi80821.
NextBio71223.
PROQ8NEL9.
SOURCESearch...

Entry information

Entry nameDDHD1_HUMAN
AccessionPrimary (citable) accession number: Q8NEL9
Secondary accession number(s): G5E9D1 expand/collapse secondary AC list , Q8WVH3, Q96LL2, Q9C0F8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: October 24, 2003
Last modified: March 19, 2014
This is version 92 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM