GALD1_HUMAN
ID GALD1_HUMAN Reviewed; 220 AA.
AC Q8NB37; B7ZKW5; Q2NL76; Q6ZQY0; Q8NAE0;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Glutamine amidotransferase-like class 1 domain-containing protein 1 {ECO:0000312|HGNC:HGNC:26616};
DE AltName: Full=Parkinson disease 7 domain-containing protein 1 {ECO:0000312|HGNC:HGNC:26616};
DE Flags: Precursor;
GN Name=GATD1 {ECO:0000312|HGNC:HGNC:26616};
GN Synonyms=PDDC1 {ECO:0000312|HGNC:HGNC:26616};
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; 3 AND 4).
RC TISSUE=Brain, Small intestine, and Trachea;
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 [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Brain;
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 [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8NB37-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NB37-2; Sequence=VSP_028233;
CC Name=3;
CC IsoId=Q8NB37-3; Sequence=VSP_028231;
CC Name=4;
CC IsoId=Q8NB37-4; Sequence=VSP_028231, VSP_028232;
CC -!- SIMILARITY: Belongs to the peptidase C56 family. {ECO:0000305}.
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DR EMBL; AK091602; BAC03706.1; -; mRNA.
DR EMBL; AK092816; BAC03983.1; -; mRNA.
DR EMBL; AK128653; BAC87551.1; -; mRNA.
DR EMBL; BC110868; AAI10869.1; -; mRNA.
DR EMBL; BC112145; AAI12146.1; -; mRNA.
DR EMBL; BC143420; AAI43421.1; -; mRNA.
DR CCDS; CCDS7713.1; -. [Q8NB37-1]
DR CCDS; CCDS81530.1; -. [Q8NB37-3]
DR RefSeq; NP_001305753.1; NM_001318824.1. [Q8NB37-3]
DR RefSeq; NP_872418.1; NM_182612.3. [Q8NB37-1]
DR RefSeq; XP_016873156.1; XM_017017667.1. [Q8NB37-4]
DR PDB; 7ND2; EM; 4.00 A; E/F/G/H=2-220.
DR PDBsum; 7ND2; -.
DR AlphaFoldDB; Q8NB37; -.
DR SMR; Q8NB37; -.
DR BioGRID; 131495; 77.
DR IntAct; Q8NB37; 46.
DR MINT; Q8NB37; -.
DR STRING; 9606.ENSP00000321691; -.
DR MEROPS; C56.974; -.
DR GlyGen; Q8NB37; 1 site.
DR iPTMnet; Q8NB37; -.
DR MetOSite; Q8NB37; -.
DR PhosphoSitePlus; Q8NB37; -.
DR BioMuta; GATD1; -.
DR DMDM; 74730065; -.
DR EPD; Q8NB37; -.
DR jPOST; Q8NB37; -.
DR MassIVE; Q8NB37; -.
DR MaxQB; Q8NB37; -.
DR PaxDb; Q8NB37; -.
DR PeptideAtlas; Q8NB37; -.
DR PRIDE; Q8NB37; -.
DR ProteomicsDB; 72724; -. [Q8NB37-1]
DR ProteomicsDB; 72725; -. [Q8NB37-2]
DR ProteomicsDB; 72726; -. [Q8NB37-3]
DR ProteomicsDB; 72727; -. [Q8NB37-4]
DR Antibodypedia; 50448; 19 antibodies from 9 providers.
DR DNASU; 347862; -.
DR Ensembl; ENST00000319863.13; ENSP00000321691.8; ENSG00000177225.17. [Q8NB37-1]
DR Ensembl; ENST00000354286.8; ENSP00000346239.4; ENSG00000177225.17. [Q8NB37-3]
DR Ensembl; ENST00000397472.6; ENSP00000380612.2; ENSG00000177225.17. [Q8NB37-2]
DR Ensembl; ENST00000524550.5; ENSP00000431183.1; ENSG00000177225.17. [Q8NB37-3]
DR GeneID; 347862; -.
DR KEGG; hsa:347862; -.
DR MANE-Select; ENST00000319863.13; ENSP00000321691.8; NM_182612.4; NP_872418.1.
DR UCSC; uc001lrc.4; human. [Q8NB37-1]
DR CTD; 347862; -.
DR DisGeNET; 347862; -.
DR GeneCards; GATD1; -.
DR HGNC; HGNC:26616; GATD1.
DR HPA; ENSG00000177225; Low tissue specificity.
DR neXtProt; NX_Q8NB37; -.
DR OpenTargets; ENSG00000177225; -.
DR PharmGKB; PA142671193; -.
DR VEuPathDB; HostDB:ENSG00000177225; -.
DR eggNOG; ENOG502QS6W; Eukaryota.
DR GeneTree; ENSGT00390000010778; -.
DR HOGENOM; CLU_098485_0_0_1; -.
DR InParanoid; Q8NB37; -.
DR OMA; DCPGAPN; -.
DR OrthoDB; 1305649at2759; -.
DR PhylomeDB; Q8NB37; -.
DR TreeFam; TF328533; -.
DR PathwayCommons; Q8NB37; -.
DR SignaLink; Q8NB37; -.
DR BioGRID-ORCS; 347862; 14 hits in 1073 CRISPR screens.
DR ChiTaRS; PDDC1; human.
DR GenomeRNAi; 347862; -.
DR Pharos; Q8NB37; Tdark.
DR PRO; PR:Q8NB37; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8NB37; protein.
DR Bgee; ENSG00000177225; Expressed in cerebellar vermis and 179 other tissues.
DR ExpressionAtlas; Q8NB37; baseline and differential.
DR Genevisible; Q8NB37; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0019172; F:glyoxalase III activity; IBA:GO_Central.
DR GO; GO:0019243; P:methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione; IBA:GO_Central.
DR Gene3D; 3.40.50.880; -; 1.
DR InterPro; IPR029062; Class_I_gatase-like.
DR SUPFAM; SSF52317; SSF52317; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Glycoprotein; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..38
FT /evidence="ECO:0000255"
FT CHAIN 39..220
FT /note="Glutamine amidotransferase-like class 1 domain-
FT containing protein 1"
FT /id="PRO_0000305094"
FT CARBOHYD 201
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 83..119
FT /note="GARYHALLIPSCPGALTDLASSGSLARILQHFHSESK -> E (in
FT isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_028231"
FT VAR_SEQ 151..220
FT /note="PSVCELVRAPGFARLPLVVEDFVKDSGACFSASEPDAVHVVLDRHLVTGQNA
FT SSTVPAVQNLLFLCGSRK -> GLGLSQEPPPRSRSPLCVSSSGPPASPACRSWWRTS
FT (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028232"
FT VAR_SEQ 182..220
FT /note="ASEPDAVHVVLDRHLVTGQNASSTVPAVQNLLFLCGSRK -> GAAASCPKA
FT DRHWQHFPVEEIFLACGFKVAGLGAAPGWGRGGKQEDRPPEEQRRAGEDFPIYQCVFIY
FT P (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028233"
SQ SEQUENCE 220 AA; 23298 MW; 73A49DD9C551D6BD CRC64;
MASERLPNRP ACLLVASGAA EGVSAQSFLH CFTMASTAFN LQVATPGGKA MEFVDVTESN
ARWVQDFRLK AYASPAKLES IDGARYHALL IPSCPGALTD LASSGSLARI LQHFHSESKP
ICAVGHGVAA LCCATNEDRS WVFDSYSLTG PSVCELVRAP GFARLPLVVE DFVKDSGACF
SASEPDAVHV VLDRHLVTGQ NASSTVPAVQ NLLFLCGSRK
