GAL3B_HUMAN
ID GAL3B_HUMAN Reviewed; 268 AA.
AC A0A0B4J2D5; A6NFJ6; A6NJY7; O00650; O00660; O15011; O15012; P30042; P55346;
AC P78474; Q92505; Q92507;
DT 18-JUL-2018, integrated into UniProtKB/Swiss-Prot.
DT 04-MAR-2015, sequence version 1.
DT 03-AUG-2022, entry version 50.
DE RecName: Full=Putative glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial {ECO:0000305};
DE AltName: Full=Keio novel protein-I {ECO:0000303|PubMed:8753807};
DE Short=KNP-I {ECO:0000303|PubMed:8753807};
DE AltName: Full=Protein GT335 {ECO:0000303|PubMed:8975701};
DE AltName: Full=Protein HES1 {ECO:0000303|PubMed:9150728};
DE Flags: Precursor;
GN Name=GATD3B {ECO:0000305};
GN Synonyms=HES1 {ECO:0000303|PubMed:9150728},
GN KNPI {ECO:0000303|PubMed:8753807};
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 [MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
RX PubMed=8753807; DOI=10.1006/bbrc.1996.1218;
RA Nagamine K., Kudoh J., Minoshima S., Kawasaki K., Asakawa S., Ito F.,
RA Shimizu N.;
RT "Isolation of cDNA for a novel human protein KNP-I that is homologous to
RT the E. coli SCRP-27A protein from the autoimmune polyglandular disease type
RT I (APECED) region of chromosome 21q22.3.";
RL Biochem. Biophys. Res. Commun. 225:608-616(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
RX PubMed=8975701; DOI=10.1006/geno.1996.0627;
RA Lafreniere R.G., Rochefort D.L., Kibar Z., Fon E.A., Han F.-Y., Cochius J.,
RA Kang X., Baird S., Korneluk R.G., Andermann E., Rommens J.M., Rouleau G.A.;
RT "Isolation and characterization of GT335, a novel human gene conserved in
RT Escherichia coli and mapping to 21q22.3.";
RL Genomics 38:264-272(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=9150728; DOI=10.1007/s004390050416;
RA Scott H.S., Chen H., Rossier C., Lalioti M.D., Antonarakis S.E.;
RT "Isolation of a human gene (HES1) with homology to an Escherichia coli and
RT a zebrafish protein that maps to chromosome 21q22.3.";
RL Hum. Genet. 99:616-623(1997).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
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 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 [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 144-174.
RA Shimizu N.;
RL Submitted (JUN-1996) to the EMBL/GenBank/DDBJ databases.
RN [8]
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 [9]
RP CLEAVAGE OF TRANSIT PEPTIDE [LARGE SCALE ANALYSIS] AFTER PRO-41, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- INTERACTION:
CC A0A0B4J2D5; Q96EL3: MRPL53; NbExp=3; IntAct=EBI-23705910, EBI-2513715;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=KNP-IA, long;
CC IsoId=A0A0B4J2D5-1, P30042-1;
CC Sequence=Displayed;
CC Name=2; Synonyms=KNP-IB, short;
CC IsoId=A0A0B4J2D5-2, P30042-2;
CC Sequence=VSP_059660;
CC -!- SIMILARITY: Belongs to the GATD3 family. {ECO:0000305}.
CC -!- CAUTION: Product of a dubious gene prediction. The corresponding gene
CC is on a region of chromosome 21 that is known to be an artifactual
CC duplication of another chromosome 21 region in the GRCh38 assembly.
CC This entry may represent an artifactual copy of AC P0DPI2.
CC {ECO:0000305}.
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DR EMBL; D86061; BAA12984.1; -; mRNA.
DR EMBL; D86062; BAA12985.1; -; mRNA.
DR EMBL; U53003; AAC50937.1; -; mRNA.
DR EMBL; U53007; AAC50938.1; -; Genomic_DNA.
DR EMBL; U53004; AAC50938.1; JOINED; Genomic_DNA.
DR EMBL; U53005; AAC50938.1; JOINED; Genomic_DNA.
DR EMBL; U53006; AAC50938.1; JOINED; Genomic_DNA.
DR EMBL; Y07572; CAA68857.1; -; mRNA.
DR EMBL; FP565260; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC002370; AAH02370.1; -; mRNA.
DR EMBL; BC003587; AAH03587.1; -; mRNA.
DR EMBL; D86060; BAA20888.1; -; Genomic_DNA.
DR CCDS; CCDS86975.1; -. [A0A0B4J2D5-2]
DR CCDS; CCDS86976.1; -.
DR PIR; JC4913; JC4913.
DR RefSeq; NP_004640.4; NM_004649.7.
DR RefSeq; NP_937798.4; NM_198155.4.
DR RefSeq; XP_006723964.1; XM_006723901.3.
DR RefSeq; XP_006723966.1; XM_006723903.3.
DR RefSeq; XP_011507206.1; XM_011508904.2.
DR RefSeq; XP_011507208.1; XM_011508906.2.
DR AlphaFoldDB; A0A0B4J2D5; -.
DR SMR; A0A0B4J2D5; -.
DR IntAct; A0A0B4J2D5; 1.
DR STRING; 9606.ENSP00000480313; -.
DR GlyGen; A0A0B4J2D5; 1 site, 1 O-linked glycan (1 site).
DR jPOST; A0A0B4J2D5; -.
DR MassIVE; A0A0B4J2D5; -.
DR PeptideAtlas; A0A0B4J2D5; -.
DR Antibodypedia; 82505; 1 antibodies from 1 providers.
DR DNASU; 8209; -.
DR GeneID; 8209; -.
DR KEGG; hsa:8209; -.
DR CTD; 8209; -.
DR DisGeNET; 8209; -.
DR GeneCards; GATD3B; -.
DR HPA; ENSG00000280071; Low tissue specificity.
DR neXtProt; NX_A0A0B4J2D5; -.
DR OpenTargets; ENSG00000280071; -.
DR VEuPathDB; HostDB:ENSG00000280071; -.
DR eggNOG; ENOG502QQFM; Eukaryota.
DR GeneTree; ENSGT00390000003706; -.
DR OMA; NRMAVFR; -.
DR OrthoDB; 1204104at2759; -.
DR PathwayCommons; A0A0B4J2D5; -.
DR SignaLink; A0A0B4J2D5; -.
DR BioGRID-ORCS; 102724023; 0 hits in 4 CRISPR screens.
DR ChiTaRS; GATD3B; human.
DR Pharos; A0A0B4J2D5; Tdark.
DR PRO; PR:A0A0B4J2D5; -.
DR Proteomes; UP000005640; Chromosome 21.
DR Bgee; ENSG00000280071; Expressed in apex of heart and 95 other tissues.
DR ExpressionAtlas; A0A0B4J2D5; 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 5: Uncertain;
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="Putative glutamine amidotransferase-like class 1
FT domain-containing protein 3B, mitochondrial"
FT /id="PRO_5002107040"
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 /id="VSP_059660"
FT CONFLICT 213
FT /note="I -> M (in Ref. 3; CAA68857)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 268 AA; 28142 MW; 8BDE027113173497 CRC64;
MAAVRALVAS 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
