LOCUS       NP_056029                711 aa            linear   PRI 27-APR-2025
DEFINITION  triacylglycerol hydrolase DDHD2 isoform 1 [Homo sapiens].
ACCESSION   NP_056029 XP_291291
VERSION     NP_056029.2
DBSOURCE    REFSEQ: accession NM_015214.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 711)
  AUTHORS   Su,X., Liang,F., Zeng,Y., Yang,Z.R., Deng,Y.Z., Xu,Y.H. and
            Cai,X.W.
  TITLE     Radiation-Induced Endothelial Ferroptosis Accelerates
            Atherosclerosis via the DDHD2-Mediated Nrf2/GPX4 Pathway
  JOURNAL   Biomolecules 14 (7), 879 (2024)
   PUBMED   39062593
  REMARK    GeneRIF: Radiation-Induced Endothelial Ferroptosis Accelerates
            Atherosclerosis via the DDHD2-Mediated Nrf2/GPX4 Pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 711)
  AUTHORS   Jia,F., Wang,X., Fu,Y., Zhao,S.M., Lu,B. and Wang,C.
  TITLE     DDHD2, whose mutations cause spastic paraplegia type 54, enhances
            lipophagy via engaging ATG8 family proteins
  JOURNAL   Cell Death Differ 31 (3), 348-359 (2024)
   PUBMED   38332048
  REMARK    GeneRIF: DDHD2, whose mutations cause spastic paraplegia type 54,
            enhances lipophagy via engaging ATG8 family proteins.
REFERENCE   3  (residues 1 to 711)
  AUTHORS   Sun,L., Yang,X., Khan,A., Yu,X., Zhang,H., Han,S., Habulieti,X.,
            Sun,Y., Wang,R. and Zhang,X.
  TITLE     Panoramic variation analysis of a family with neurodevelopmental
            disorders caused by biallelic loss-of-function variants in TMEM141,
            DDHD2, and LHFPL5
  JOURNAL   Front Med 18 (1), 81-97 (2024)
   PUBMED   37837560
  REMARK    GeneRIF: Panoramic variation analysis of a family with
            neurodevelopmental disorders caused by biallelic loss-of-function
            variants in TMEM141, DDHD2, and LHFPL5.
REFERENCE   4  (residues 1 to 711)
  AUTHORS   Chou,Y.T., Hsu,S.L., Tsai,Y.S., Lu,Y.J., Yu,K.W., Wu,H.M.,
            Liao,Y.C. and Lee,Y.C.
  TITLE     Biallelic DDHD2 mutations in patients with adult-onset complex
            hereditary spastic paraplegia
  JOURNAL   Ann Clin Transl Neurol 10 (9), 1603-1612 (2023)
   PUBMED   37420318
  REMARK    GeneRIF: Biallelic DDHD2 mutations in patients with adult-onset
            complex hereditary spastic paraplegia.
REFERENCE   5  (residues 1 to 711)
  AUTHORS   Morikawa,R.K., Aoki,J., Kano,F., Murata,M., Yamamoto,A.,
            Tsujimoto,M. and Arai,H.
  TITLE     Intracellular phospholipase A1gamma (iPLA1gamma) is a novel factor
            involved in coat protein complex I- and Rab6-independent retrograde
            transport between the endoplasmic reticulum and the Golgi complex
  JOURNAL   J Biol Chem 284 (39), 26620-26630 (2009)
   PUBMED   19632984
REFERENCE   6  (residues 1 to 711)
  AUTHORS   Kwek,S.S., Roy,R., Zhou,H., Climent,J., Martinez-Climent,J.A.,
            Fridlyand,J. and Albertson,D.G.
  TITLE     Co-amplified genes at 8p12 and 11q13 in breast tumors cooperate
            with two major pathways in oncogenesis
  JOURNAL   Oncogene 28 (17), 1892-1903 (2009)
   PUBMED   19330026
  REMARK    GeneRIF: Data show that FGFR1 and DDHD2 at 8p12 cooperated
            functionally with MYC, whereas CCND1 and ZNF703 cooperated with a
            dominant negative form of TP53.
REFERENCE   7  (residues 1 to 711)
  AUTHORS   Bernard-Pierrot,I., Gruel,N., Stransky,N., Vincent-Salomon,A.,
            Reyal,F., Raynal,V., Vallot,C., Pierron,G., Radvanyi,F. and
            Delattre,O.
  TITLE     Characterization of the recurrent 8p11-12 amplicon identifies
            PPAPDC1B, a phosphatase protein, as a new therapeutic target in
            breast cancer
  JOURNAL   Cancer Res 68 (17), 7165-7175 (2008)
   PUBMED   18757432
REFERENCE   8  (residues 1 to 711)
  AUTHORS   Shimoi,W., Ezawa,I., Nakamoto,K., Uesaki,S., Gabreski,G.,
            Aridor,M., Yamamoto,A., Nagahama,M., Tagaya,M. and Tani,K.
  TITLE     p125 is localized in endoplasmic reticulum exit sites and involved
            in their organization
  JOURNAL   J Biol Chem 280 (11), 10141-10148 (2005)
   PUBMED   15623529
REFERENCE   9  (residues 1 to 711)
  AUTHORS   Nakajima,K., Sonoda,H., Mizoguchi,T., Aoki,J., Arai,H.,
            Nagahama,M., Tagaya,M. and Tani,K.
  TITLE     A novel phospholipase A1 with sequence homology to a mammalian
            Sec23p-interacting protein, p125
  JOURNAL   J Biol Chem 277 (13), 11329-11335 (2002)
   PUBMED   11788596
REFERENCE   10 (residues 1 to 711)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA412370.1, AK056525.1,
            AK125904.1, AB018268.1, BM510691.1 and AC087362.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 19, 2009 this sequence version replaced NP_056029.1.
            
            Summary: This gene encodes a phospholipase enzyme containing
            sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein
            participates in membrane trafficking between the endoplastic
            reticulum and the Golgi body. Mutations in this gene can cause
            autosomal recessive spastic paraplegia 54. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Dec
            2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Both variants 1 and
            2 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.67252.1,
                                           SRR1803614.83561.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397166.7/ ENSP00000380352.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..711
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     Protein         1..711
                     /product="triacylglycerol hydrolase DDHD2 isoform 1"
                     /EC_number="3.1.1.3"
                     /note="sec23p-interacting protein p125-like phosphatidic
                     acid-preferring phospholipase A1; PA-PLA1 like;
                     phospholipase DDHD2; SAM, WWE and DDHD domain-containing
                     protein 1; intracellular phospholipase A1gamma; TAG
                     hydrolase; triglyceride lipase; triglyceride hydrolase
                     DDHD2; triacylglycerol hydrolase DDHD2"
                     /calculated_mol_wt=80901
     Region          1..24
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94830.2)"
     Region          43..112
                     /region_name="WWE"
                     /note="WWE domain; pfam02825"
                     /db_xref="CDD:460715"
     Region          379..447
                     /region_name="SAM_DDHD2"
                     /note="SAM domain of DDHD2; cd09585"
                     /db_xref="CDD:188984"
     Site            447
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80Y98; propagated from
                     UniProtKB/Swiss-Prot (O94830.2)"
     Region          449..470
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94830.2)"
     Region          495..699
                     /region_name="DDHD"
                     /note="DDHD domain; pfam02862"
                     /db_xref="CDD:460725"
     Region          609..638
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94830.2)"
     CDS             1..711
                     /gene="DDHD2"
                     /gene_synonym="iPLA(1)gamma; iPLA1A; iPLA1gamma; p125B;
                     SAMWD1; SPG54"
                     /coded_by="NM_015214.3:284..2419"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS34883.1"
                     /db_xref="GeneID:23259"
                     /db_xref="HGNC:HGNC:29106"
                     /db_xref="MIM:615003"
ORIGIN      
        1 mssvqsqqeq lsqsdpspsp nscssfelid mdagslyepv sphwfyckii dsketwipfn
       61 sedsqqleea yssgkgcngr vvptdggryd vhlgermrya vywdelasev rrctwfykgd
      121 kdnkyvpyse sfsqvleety mlavtldewk kklespnrei iilhnpklmv hyqpvagsdd
      181 wgstpteqgr prtvkrgven isvdihcgep lqidhlvfvv hgigpacdlr frsivqcvnd
      241 frsvslnllq thfkkaqenq qigrveflpv nwhsplhstg vdvdlqritl psinrlrhft
      301 ndtildvffy nsptycqtiv dtvasemnri ytlflqrnpd fkggvsiagh slgslilfdi
      361 ltnqkdslgd idsekdslni vmdqgdtptl eedlkklqls effdifekek vdkealalct
      421 drdlqeigip lgprkkilny fstrknsmgi krpapqpasg anipkesefc sssntrngdy
      481 ldvgigqvsv kyprliykpe iffafgspig mfltvrglkr idpnyrfptc kgffniyhpf
      541 dpvayriepm vvpgvefepm liphhkgrkr mhlelreglt rmsmdlknnl lgslrmawks
      601 ftrapypalq asetpeetea epestsekps dvnteetsva vkeevlpinv gmlnggqrid
      661 yvlqekpies fneylfalqs hlcywesedt vllvlkeiyq tqgifldqpl q
//
