ID   GAL3B_HUMAN             Reviewed;         268 AA.
AC   A0A0B4J2D5; A6NFJ6; A6NJY7; O00650; O00660; O15011; O15012; P30042;
AC   P55346; P78474; Q92505; Q92507;
DT   18-JUL-2018, integrated into UniProtKB/Swiss-Prot.
DT   04-MAR-2015, sequence version 1.
DT   18-JUL-2018, entry version 27.
DE   RecName: Full=Glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial;
DE   AltName: Full=ES1 protein homolog, 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:0000312|HGNC:HGNC:53816};
GN   Synonyms=HES1 {ECO:0000303|PubMed:9150728},
GN   KNPI {ECO:0000303|PubMed:8753807};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; 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
RT   to the E. coli SCRP-27A protein from the autoimmune polyglandular
RT   disease type 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.,
RA   Cochius J., Kang X., Baird S., Korneluk R.G., Andermann E.,
RA   Rommens J.M., Rouleau G.A.;
RT   "Isolation and characterization of GT335, a novel human gene conserved
RT   in 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
RT   and 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.,
RA   Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y.,
RA   Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K.,
RA   Polley A., Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D.,
RA   Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W.,
RA   Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S.,
RA   Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E.,
RA   Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P.,
RA   Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H.,
RA   Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E.,
RA   Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F.,
RA   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
RT   project: 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.,
RA   Ayoub D., 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   -!- FUNCTION: May play a role in promoting mitochondrial enlargement
CC       in cone photoreceptor cells. {ECO:0000250|UniProtKB:Q90257}.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion
CC       {ECO:0000250|UniProtKB:Q90257}.
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}.
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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   PIR; JC4913; JC4913.
DR   RefSeq; XP_006723964.1; XM_006723901.3.
DR   RefSeq; XP_011507206.1; XM_011508904.2.
DR   UniGene; Hs.413482; -.
DR   ProteinModelPortal; A0A0B4J2D5; -.
DR   EPD; A0A0B4J2D5; -.
DR   PRIDE; A0A0B4J2D5; -.
DR   Ensembl; ENST00000620528; ENSP00000480313; ENSG00000280071.
DR   GeneID; 102724023; -.
DR   KEGG; hsa:102724023; -.
DR   CTD; 102724023; -.
DR   EuPathDB; HostDB:ENSG00000280071.3; -.
DR   GeneCards; LOC102724023; -.
DR   HGNC; HGNC:53816; GATD3B.
DR   OpenTargets; ENSG00000280071; -.
DR   eggNOG; ENOG410IH62; Eukaryota.
DR   eggNOG; COG3155; LUCA.
DR   GeneTree; ENSGT00390000003706; -.
DR   OMA; HINREIN; -.
DR   OrthoDB; EOG091G0KUH; -.
DR   Proteomes; UP000005640; Chromosome 21.
DR   Bgee; ENSG00000280071; -.
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   1: Evidence at protein level;
KW   Acetylation; Alternative splicing; Complete proteome;
KW   Direct protein sequencing; Mitochondrion; Reference proteome;
KW   Transit peptide.
FT   TRANSIT       1     41       Mitochondrion.
FT                                {ECO:0000269|PubMed:1286669}.
FT   CHAIN        42    268       Glutamine amidotransferase-like class 1
FT                                domain-containing protein 3B,
FT                                mitochondrial.
FT                                /FTId=PRO_5002107040.
FT   MOD_RES     151    151       N6-acetyllysine.
FT                                {ECO:0000250|UniProtKB:Q9D172}.
FT   MOD_RES     157    157       N6-acetyllysine.
FT                                {ECO:0000250|UniProtKB:Q9D172}.
FT   MOD_RES     164    164       N6-acetyllysine.
FT                                {ECO:0000250|UniProtKB:Q9D172}.
FT   MOD_RES     203    203       N6-acetyllysine; alternate.
FT                                {ECO:0000250|UniProtKB:Q9D172}.
FT   MOD_RES     203    203       N6-succinyllysine; alternate.
FT                                {ECO:0000250|UniProtKB:Q9D172}.
FT   MOD_RES     219    219       N6-acetyllysine.
FT                                {ECO:0000250|UniProtKB:Q9D172}.
FT   MOD_RES     223    223       N6-acetyllysine; alternate.
FT                                {ECO:0000250|UniProtKB:Q9D172}.
FT   MOD_RES     223    223       N6-succinyllysine; alternate.
FT                                {ECO:0000250|UniProtKB:Q9D172}.
FT   MOD_RES     233    233       N6-acetyllysine; alternate.
FT                                {ECO:0000250|UniProtKB:Q9D172}.
FT   MOD_RES     233    233       N6-succinyllysine; alternate.
FT                                {ECO:0000250|UniProtKB:Q9D172}.
FT   VAR_SEQ     144    174       Missing (in isoform 2).
FT                                /FTId=VSP_059660.
FT   CONFLICT    213    213       I -> M (in Ref. 3; CAA68857).
FT                                {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
//