GAL3A_HUMAN
ID GAL3A_HUMAN Reviewed; 268 AA.
AC P0DPI2; A6NFJ6; A6NJY7; O00650; O00660; O15011; O15012; P30042; P55346;
AC P78474; Q92505; Q92507;
DT 18-JUL-2018, integrated into UniProtKB/Swiss-Prot.
DT 18-JUL-2018, sequence version 1.
DT 03-AUG-2022, entry version 23.
DE RecName: Full=Glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial {ECO:0000305};
DE Flags: Precursor;
GN Name=GATD3 {ECO:0000312|HGNC:HGNC:1273};
GN Synonyms=C21orf33 {ECO:0000312|HGNC:HGNC:1273}, GATD3A;
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 [GENOMIC DNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [GENOMIC DNA] OF 1-226 (ISOFORM 2).
RX PubMed=9205129; DOI=10.1006/geno.1997.4761;
RA Nagamine K., Kudoh J., Minoshima S., Kawasaki K., Asakawa S., Ito F.,
RA Shimizu N.;
RT "Genomic organization and complete nucleotide sequence of the human PWP2
RT gene on chromosome 21.";
RL Genomics 42:528-531(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [3]
RP PROTEIN SEQUENCE OF 117-141, AND IDENTIFICATION BY MASS SPECTROMETRY.
RC TISSUE=Brain, and Cajal-Retzius cell;
RA Lubec G., Vishwanath V.;
RL Submitted (MAR-2007) to UniProtKB.
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 144-174.
RA Shimizu N.;
RL Submitted (JUN-1996) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP PROTEIN SEQUENCE OF 42-54.
RC TISSUE=Liver;
RX PubMed=1286669; DOI=10.1002/elps.11501301201;
RA Hochstrasser D.F., Frutiger S., Paquet N., Bairoch A., Ravier F.,
RA Pasquali C., Sanchez J.-C., Tissot J.-D., Bjellqvist B., Vargas R.,
RA Appel R.D., Hughes G.J.;
RT "Human liver protein map: a reference database established by
RT microsequencing and gel comparison.";
RL Electrophoresis 13:992-1001(1992).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=Long;
CC IsoId=P0DPI2-1, P30042-1;
CC Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=P0DPI2-2, P30042-2;
CC Sequence=VSP_001454;
CC -!- SIMILARITY: Belongs to the GATD3 family. {ECO:0000305}.
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DR EMBL; AP001753; BAA95554.1; -; Genomic_DNA.
DR EMBL; AB001517; BAA21138.1; -; Genomic_DNA.
DR EMBL; AB001517; BAA21139.1; -; Genomic_DNA.
DR EMBL; AP001055; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; D86060; BAA20888.1; -; Genomic_DNA.
DR CCDS; CCDS33580.1; -.
DR CCDS; CCDS33581.1; -. [P0DPI2-2]
DR PIR; JC4914; JC4914.
DR RefSeq; NP_004640.4; NM_004649.7. [P0DPI2-1]
DR AlphaFoldDB; P0DPI2; -.
DR SMR; P0DPI2; -.
DR STRING; 9606.ENSP00000291577; -.
DR iPTMnet; P0DPI2; -.
DR PhosphoSitePlus; P0DPI2; -.
DR jPOST; P0DPI2; -.
DR MassIVE; P0DPI2; -.
DR PeptideAtlas; P0DPI2; -.
DR Antibodypedia; 10117; 177 antibodies from 23 providers.
DR DNASU; 8209; -.
DR Ensembl; ENST00000291577.11; ENSP00000291577.6; ENSG00000160221.18. [P0DPI2-1]
DR Ensembl; ENST00000348499.9; ENSP00000344901.5; ENSG00000160221.18. [P0DPI2-2]
DR GeneID; 8209; -.
DR KEGG; hsa:8209; -.
DR MANE-Select; ENST00000291577.11; ENSP00000291577.6; NM_004649.8; NP_004640.4.
DR CTD; 8209; -.
DR DisGeNET; 8209; -.
DR GeneCards; GATD3A; -.
DR HGNC; HGNC:1273; GATD3.
DR HPA; ENSG00000160221; Tissue enhanced (tongue).
DR MalaCards; GATD3A; -.
DR MIM; 601659; gene.
DR neXtProt; NX_P0DPI2; -.
DR OpenTargets; ENSG00000160221; -.
DR VEuPathDB; HostDB:ENSG00000160221; -.
DR GeneTree; ENSGT00390000003706; -.
DR OMA; LXLCCIA; -.
DR PathwayCommons; P0DPI2; -.
DR ChiTaRS; C21orf33; human.
DR Pharos; P0DPI2; Tdark.
DR PRO; PR:P0DPI2; -.
DR Proteomes; UP000005640; Chromosome 21.
DR Bgee; ENSG00000160221; Expressed in mucosa of transverse colon and 98 other tissues.
DR ExpressionAtlas; P0DPI2; baseline and differential.
DR GO; GO:0005739; C:mitochondrion; 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 Acetylation; Alternative splicing; Direct protein sequencing;
KW Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..41
FT /note="Mitochondrion"
FT /evidence="ECO:0000269|PubMed:1286669"
FT CHAIN 42..268
FT /note="Glutamine amidotransferase-like class 1 domain-
FT containing protein 3, mitochondrial"
FT /id="PRO_0000008544"
FT MOD_RES 151
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9D172"
FT MOD_RES 157
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9D172"
FT MOD_RES 164
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9D172"
FT MOD_RES 203
FT /note="N6-acetyllysine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q9D172"
FT MOD_RES 203
FT /note="N6-succinyllysine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q9D172"
FT MOD_RES 219
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9D172"
FT MOD_RES 223
FT /note="N6-acetyllysine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q9D172"
FT MOD_RES 223
FT /note="N6-succinyllysine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q9D172"
FT MOD_RES 233
FT /note="N6-acetyllysine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q9D172"
FT MOD_RES 233
FT /note="N6-succinyllysine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q9D172"
FT VAR_SEQ 144..174
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9205129"
FT /id="VSP_001454"
FT VARIANT 148
FT /note="V -> M (in dbSNP:rs17264865)"
FT /id="VAR_027921"
FT VARIANT 248
FT /note="L -> V (in dbSNP:rs2838497)"
FT /id="VAR_020441"
SQ SEQUENCE 268 AA; 28170 MW; FCDE084D43173330 CRC64;
MAAVRVLVAS RLAAASAFTS LSPGGRTPSQ RAALHLSVPR PAARVALVLS GCGVYDGTEI
HEASAILVHL SRGGAEVQIF APDVPQMHVI DHTKGQPSEG ESRNVLTESA RIARGKITDL
ANLSAANHDA AIFPGGFGAA KNLSTFAVDG KDCKVNKEVE RVLKEFHQAG KPIGLCCIAP
VLAAKVLRGV EVTVGHEQEE GGKWPYAGTA EAIKALGAKH CVKEVVEAHV DQKNKVVTTP
AFMCETALHY IHDGIGAMVR KVLELTGK
