PLD3A_HUMAN
ID PLD3A_HUMAN Reviewed; 172 AA.
AC Q96N28; B0YJ10; B4E0C9; D3DUJ1; Q6AHX2;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=PRELI domain containing protein 3A;
DE AltName: Full=Protein slowmo homolog 1;
GN Name=PRELID3A; Synonyms=C18orf43, SLMO1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Thymus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RG NHLBI resequencing and genotyping service (RS&G);
RL Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 68-172 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP X-RAY CRYSTALLOGRAPHY (3.58 ANGSTROMS) IN COMPLEX WITH TRIAP1, FUNCTION,
RP INTERACTION WITH TRIAP1, AND MUTAGENESIS OF VAL-36.
RX PubMed=26071602; DOI=10.15252/embr.201540229;
RA Miliara X., Garnett J.A., Tatsuta T., Abid Ali F., Baldie H.,
RA Perez-Dorado I., Simpson P., Yague E., Langer T., Matthews S.;
RT "Structural insight into the TRIAP1/PRELI-like domain family of
RT mitochondrial phospholipid transfer complexes.";
RL EMBO Rep. 16:824-835(2015).
CC -!- FUNCTION: In vitro, the TRIAP1:PRELID3A complex mediates the transfer
CC of phosphatidic acid (PA) between liposomes and probably functions as a
CC PA transporter across the mitochondrion intermembrane space.
CC Phosphatidic acid import is required for cardiolipin (CL) synthesis in
CC the mitochondrial inner membrane. {ECO:0000305|PubMed:26071602}.
CC -!- SUBUNIT: Interacts with TRIAP1. {ECO:0000269|PubMed:26071602}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96N28-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96N28-2; Sequence=VSP_056666;
CC -!- SIMILARITY: Belongs to the slowmo family. {ECO:0000305}.
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DR EMBL; AK056046; BAB71083.1; -; mRNA.
DR EMBL; AK303325; BAG64391.1; -; mRNA.
DR EMBL; EF444975; ACA05988.1; -; Genomic_DNA.
DR EMBL; AP001029; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471113; EAX01547.1; -; Genomic_DNA.
DR EMBL; CH471113; EAX01548.1; -; Genomic_DNA.
DR EMBL; CH471113; EAX01549.1; -; Genomic_DNA.
DR EMBL; BC106750; AAI06751.1; -; mRNA.
DR EMBL; CR627465; CAH10669.1; -; mRNA.
DR CCDS; CCDS11860.1; -. [Q96N28-1]
DR CCDS; CCDS77154.1; -. [Q96N28-2]
DR RefSeq; NP_001135877.1; NM_001142405.1. [Q96N28-1]
DR RefSeq; NP_001135878.1; NM_001142406.1. [Q96N28-2]
DR RefSeq; NP_006544.2; NM_006553.3. [Q96N28-1]
DR PDB; 4XZV; X-ray; 3.58 A; B/D/F/H=1-172.
DR PDBsum; 4XZV; -.
DR AlphaFoldDB; Q96N28; -.
DR SMR; Q96N28; -.
DR BioGRID; 115893; 9.
DR IntAct; Q96N28; 1.
DR STRING; 9606.ENSP00000404700; -.
DR BioMuta; PRELID3A; -.
DR DMDM; 74732484; -.
DR jPOST; Q96N28; -.
DR MassIVE; Q96N28; -.
DR MaxQB; Q96N28; -.
DR PaxDb; Q96N28; -.
DR PeptideAtlas; Q96N28; -.
DR PRIDE; Q96N28; -.
DR ProteomicsDB; 77459; -. [Q96N28-1]
DR Antibodypedia; 54064; 26 antibodies from 7 providers.
DR DNASU; 10650; -.
DR Ensembl; ENST00000336990.8; ENSP00000338988.3; ENSG00000141391.14. [Q96N28-1]
DR Ensembl; ENST00000440960.6; ENSP00000404700.1; ENSG00000141391.14. [Q96N28-1]
DR Ensembl; ENST00000592149.5; ENSP00000466737.1; ENSG00000141391.14. [Q96N28-2]
DR GeneID; 10650; -.
DR KEGG; hsa:10650; -.
DR MANE-Select; ENST00000440960.6; ENSP00000404700.1; NM_001142405.2; NP_001135877.1.
DR UCSC; uc002kra.4; human. [Q96N28-1]
DR CTD; 10650; -.
DR GeneCards; PRELID3A; -.
DR HGNC; HGNC:24639; PRELID3A.
DR HPA; ENSG00000141391; Tissue enhanced (brain).
DR MIM; 616545; gene.
DR neXtProt; NX_Q96N28; -.
DR OpenTargets; ENSG00000141391; -.
DR PharmGKB; PA162403903; -.
DR VEuPathDB; HostDB:ENSG00000141391; -.
DR eggNOG; KOG3336; Eukaryota.
DR GeneTree; ENSGT00950000182810; -.
DR InParanoid; Q96N28; -.
DR OMA; DPAEKKM; -.
DR OrthoDB; 1449441at2759; -.
DR PhylomeDB; Q96N28; -.
DR TreeFam; TF312873; -.
DR PathwayCommons; Q96N28; -.
DR Reactome; R-HSA-6803204; TP53 Regulates Transcription of Genes Involved in Cytochrome C Release.
DR SignaLink; Q96N28; -.
DR BioGRID-ORCS; 10650; 16 hits in 1072 CRISPR screens.
DR ChiTaRS; PRELID3A; human.
DR GenomeRNAi; 10650; -.
DR Pharos; Q96N28; Tbio.
DR PRO; PR:Q96N28; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q96N28; protein.
DR Bgee; ENSG00000141391; Expressed in sural nerve and 97 other tissues.
DR ExpressionAtlas; Q96N28; baseline and differential.
DR Genevisible; Q96N28; HS.
DR GO; GO:0005758; C:mitochondrial intermembrane space; IBA:GO_Central.
DR GO; GO:1990050; F:phosphatidic acid transfer activity; IDA:HGNC.
DR GO; GO:0015914; P:phospholipid transport; IDA:HGNC.
DR InterPro; IPR006797; PRELI/MSF1_dom.
DR InterPro; IPR037365; Slowmo/Ups.
DR PANTHER; PTHR11158; PTHR11158; 1.
DR Pfam; PF04707; PRELI; 1.
DR PROSITE; PS50904; PRELI_MSF1; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Lipid transport; Mitochondrion;
KW Reference proteome; Transport.
FT CHAIN 1..172
FT /note="PRELI domain containing protein 3A"
FT /id="PRO_0000295215"
FT DOMAIN 1..172
FT /note="PRELI/MSF1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00158"
FT SITE 36
FT /note="Important for interaction with TRIAP1"
FT /evidence="ECO:0000269|PubMed:26071602"
FT SITE 49
FT /note="Important for interaction with TRIAP1"
FT /evidence="ECO:0000269|PubMed:26071602"
FT VAR_SEQ 1..21
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056666"
FT MUTAGEN 36
FT /note="V->A: Impairs interaction with TRIAP1."
FT /evidence="ECO:0000269|PubMed:26071602"
SQ SEQUENCE 172 AA; 19247 MW; 111C67F7E43805CD CRC64;
MKIWSSEHVF GHPWDTVIQA AMRKYPNPMN PSVLGVDVLQ RRVDGRGRLH SLRLLSTEWG
LPSLVRAILG TSRTLTYIRE HSVVDPVEKK MELCSTNITL TNLVSVNERL VYTPHPENPE
MTVLTQEAII TVKGISLGSY LESLMANTIS SNAKKGWAAI EWIIEHSESA VS
