ID GHDC_HUMAN Reviewed; 530 AA.
AC Q8N2G8; B4DQS4; E9PDB5; Q9BXM6;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2004, sequence version 2.
DT 27-MAR-2024, entry version 145.
DE RecName: Full=GH3 domain-containing protein;
DE Flags: Precursor;
GN Name=GHDC; Synonyms=D11LGP1E, LGP1;
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] (ISOFORM 1).
RX PubMed=11161808; DOI=10.1006/geno.2000.6433;
RA Miyoshi K., Cui Y., Riedlinger G., Robinson P., Lehoczky J., Zon L.,
RA Oka T., Dewar K., Hennighausen L.;
RT "Structure of the mouse Stat 3/5 locus: evolution from Drosophila to
RT zebrafish to mouse.";
RL Genomics 71:150-155(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Mammary gland, and Thyroid;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon;
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 [5]
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).
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).
RN [7]
RP METHYLATION AT GLN-489, AND MUTAGENESIS OF GLN-489.
RX PubMed=26797129; DOI=10.1074/jbc.m115.711952;
RA Kusevic D., Kudithipudi S., Jeltsch A.;
RT "Substrate specificity of the HEMK2 protein glutamine methyltransferase and
RT identification of novel substrates.";
RL J. Biol. Chem. 291:6124-6133(2016).
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum
CC {ECO:0000250|UniProtKB:Q99J23}. Nucleus envelope
CC {ECO:0000250|UniProtKB:Q99J23}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N2G8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N2G8-2; Sequence=VSP_010835, VSP_010836;
CC Name=3;
CC IsoId=Q8N2G8-3; Sequence=VSP_044831;
CC -!- PTM: Methylated at Gln-489 by N6AMT1. {ECO:0000269|PubMed:26797129}.
CC -!- SIMILARITY: Belongs to the GH3 family. {ECO:0000305}.
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DR EMBL; AF316997; AAK15472.1; -; mRNA.
DR EMBL; AK074700; BAC11146.1; -; mRNA.
DR EMBL; AK075277; BAC11514.1; -; mRNA.
DR EMBL; AK298933; BAG61036.1; -; mRNA.
DR EMBL; AC099811; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC022784; AAH22784.1; -; mRNA.
DR CCDS; CCDS11422.1; -. [Q8N2G8-1]
DR CCDS; CCDS45682.1; -. [Q8N2G8-2]
DR RefSeq; NP_001136095.1; NM_001142623.1. [Q8N2G8-2]
DR RefSeq; NP_115873.1; NM_032484.4. [Q8N2G8-1]
DR AlphaFoldDB; Q8N2G8; -.
DR SMR; Q8N2G8; -.
DR BioGRID; 124108; 73.
DR IntAct; Q8N2G8; 28.
DR STRING; 9606.ENSP00000301671; -.
DR GlyCosmos; Q8N2G8; 1 site, No reported glycans.
DR GlyGen; Q8N2G8; 2 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N2G8; -.
DR PhosphoSitePlus; Q8N2G8; -.
DR SwissPalm; Q8N2G8; -.
DR BioMuta; GHDC; -.
DR DMDM; 50401069; -.
DR EPD; Q8N2G8; -.
DR jPOST; Q8N2G8; -.
DR MassIVE; Q8N2G8; -.
DR MaxQB; Q8N2G8; -.
DR PaxDb; 9606-ENSP00000301671; -.
DR PeptideAtlas; Q8N2G8; -.
DR ProteomicsDB; 19626; -.
DR ProteomicsDB; 71697; -. [Q8N2G8-1]
DR ProteomicsDB; 71698; -. [Q8N2G8-2]
DR Pumba; Q8N2G8; -.
DR Antibodypedia; 29163; 103 antibodies from 24 providers.
DR DNASU; 84514; -.
DR Ensembl; ENST00000301671.12; ENSP00000301671.7; ENSG00000167925.17. [Q8N2G8-1]
DR Ensembl; ENST00000414034.7; ENSP00000399952.2; ENSG00000167925.17. [Q8N2G8-2]
DR Ensembl; ENST00000587427.6; ENSP00000467585.1; ENSG00000167925.17. [Q8N2G8-1]
DR GeneID; 84514; -.
DR KEGG; hsa:84514; -.
DR MANE-Select; ENST00000587427.6; ENSP00000467585.1; NM_032484.5; NP_115873.1.
DR UCSC; uc002hzd.4; human. [Q8N2G8-1]
DR AGR; HGNC:24438; -.
DR CTD; 84514; -.
DR GeneCards; GHDC; -.
DR HGNC; HGNC:24438; GHDC.
DR HPA; ENSG00000167925; Low tissue specificity.
DR MIM; 608587; gene.
DR neXtProt; NX_Q8N2G8; -.
DR OpenTargets; ENSG00000167925; -.
DR PharmGKB; PA147358034; -.
DR VEuPathDB; HostDB:ENSG00000167925; -.
DR eggNOG; ENOG502QPMW; Eukaryota.
DR GeneTree; ENSGT00390000016401; -.
DR HOGENOM; CLU_038581_1_0_1; -.
DR InParanoid; Q8N2G8; -.
DR OMA; TSPWPHP; -.
DR OrthoDB; 5402445at2759; -.
DR PhylomeDB; Q8N2G8; -.
DR TreeFam; TF333007; -.
DR PathwayCommons; Q8N2G8; -.
DR Reactome; R-HSA-6798695; Neutrophil degranulation.
DR SignaLink; Q8N2G8; -.
DR BioGRID-ORCS; 84514; 20 hits in 1158 CRISPR screens.
DR GenomeRNAi; 84514; -.
DR Pharos; Q8N2G8; Tbio.
DR PRO; PR:Q8N2G8; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8N2G8; Protein.
DR Bgee; ENSG00000167925; Expressed in right adrenal gland cortex and 140 other cell types or tissues.
DR ExpressionAtlas; Q8N2G8; baseline and differential.
DR Genevisible; Q8N2G8; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0005635; C:nuclear envelope; IEA:UniProtKB-SubCell.
DR GO; GO:0034774; C:secretory granule lumen; TAS:Reactome.
DR GO; GO:0035580; C:specific granule lumen; TAS:Reactome.
DR GO; GO:0016881; F:acid-amino acid ligase activity; IBA:GO_Central.
DR InterPro; IPR004993; GH3.
DR PANTHER; PTHR31901; GH3 DOMAIN-CONTAINING PROTEIN; 1.
DR PANTHER; PTHR31901:SF9; GH3 DOMAIN-CONTAINING PROTEIN; 1.
DR Pfam; PF03321; GH3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Endoplasmic reticulum; Glycoprotein; Methylation;
KW Nucleus; Reference proteome; Signal.
FT SIGNAL 1..17
FT /evidence="ECO:0000255"
FT CHAIN 18..530
FT /note="GH3 domain-containing protein"
FT /id="PRO_0000021593"
FT REGION 99..122
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 489
FT /note="N5-methylglutamine"
FT /evidence="ECO:0000269|PubMed:26797129"
FT CARBOHYD 450
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 101..139
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044831"
FT VAR_SEQ 430..474
FT /note="DSSAGSAPHYEVFVALRGLRNLSEENRDKLDHCLQEASPRYKSLR -> EWG
FT RTDRAEDTRLGSCPFTGSMCAHGVYSQIPLRALLPTTRCLWR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_010835"
FT VAR_SEQ 475..530
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_010836"
FT MUTAGEN 489
FT /note="Q->R: Abolishes methylation by N6AMT1."
FT /evidence="ECO:0000269|PubMed:26797129"
FT CONFLICT 420
FT /note="D -> G (in Ref. 2; BAC11514)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 530 AA; 57523 MW; BC0D92AC78889C16 CRC64;
MLLWPLLLLL LLLPTLALLR QQRSQDARLS WLAGLQHRVA WGALVWAATW QRRRLEQSTL
HVHQSQQQAL RWCLQGAQRP HCSLRRSTDI STFRNHLPLT KASQTQQEDS GEQPLPPTSN
QDLGEASLQA TLLGLAALNK AYPEVLAQGR TARVTLTSPW PRPLPWPGNT LGQVGTPGTK
DPRALLLDAL RSPGLRALEA GTAVELLDVF LGLETDGEEL AGAIAAGNPG APLRERAAEL
REALEQGPRG LALRLWPKLQ VVVTLDAGGQ AEAVAALGAL WCQGLAFFSP AYAASGGVLG
LNLQPEQPHG LYLLPPGAPF IELLPVKEGT QEEAASTLLL AEAQQGKEYE LVLTDRASLT
RCRLGDVVRV VGAYNQCPVV RFICRLDQTL SVRGEDIGED LFSEALGRAV GQWAGAKLLD
HGCVESSILD SSAGSAPHYE VFVALRGLRN LSEENRDKLD HCLQEASPRY KSLRFWGSVG
PARVHLVGQG AFRALRAALA ACPSSPFPPA MPRVLRHRHL AQCLQERVVS
//
