RES18_HUMAN
ID RES18_HUMAN Reviewed; 228 AA.
AC Q5W5W9; A8MQ49; Q38I23; Q5W5X0;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 25-APR-2018, sequence version 2.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Regulated endocrine-specific protein 18;
GN Name=RESP18;
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; 2 AND 3), AND TISSUE SPECIFICITY.
RC TISSUE=Pancreas;
RX PubMed=17951542; DOI=10.1677/joe-07-0252;
RA Zhang G., Hirai H., Cai T., Miura J., Yu P., Huang H., Schiller M.R.,
RA Swaim W.D., Leapman R.D., Notkins A.L.;
RT "RESP18, a homolog of the luminal domain IA-2, is found in dense core
RT vesicles in pancreatic islet cells and is induced by high glucose.";
RL J. Endocrinol. 195:313-321(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
CC -!- FUNCTION: May play an important regulatory role in corticotrophs.
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum
CC {ECO:0000250|UniProtKB:P47940}. Golgi apparatus
CC {ECO:0000250|UniProtKB:P47940}. Cytoplasmic vesicle, secretory vesicle
CC lumen {ECO:0000250|UniProtKB:P47940}. Note=Found in the lumen of
CC secretory vesicles (dense core vesicles, DCV). However, seems to be
CC retained intracellularly and not secreted.
CC {ECO:0000250|UniProtKB:P47939, ECO:0000250|UniProtKB:P47940}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=2; Synonyms=B;
CC IsoId=Q5W5W9-2; Sequence=Displayed;
CC Name=1; Synonyms=A;
CC IsoId=Q5W5W9-1; Sequence=VSP_059544, VSP_059547, VSP_059548,
CC VSP_059549;
CC Name=3; Synonyms=C;
CC IsoId=Q5W5W9-3; Sequence=VSP_059545, VSP_059546;
CC -!- TISSUE SPECIFICITY: Pancreas. Found in alpha, beta and delta cells in
CC the pancreatic islets. {ECO:0000269|PubMed:17951542}.
CC -!- MISCELLANEOUS: [Isoform 3]: May be due to intron retention.
CC {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the RESP18 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ04549.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF437883; AAQ04480.3; -; mRNA.
DR EMBL; AF439399; AAQ04549.1; ALT_INIT; mRNA.
DR EMBL; DQ227570; ABB13523.1; -; mRNA.
DR EMBL; AC114803; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS33382.2; -. [Q5W5W9-2]
DR RefSeq; NP_001007090.3; NM_001007089.3. [Q5W5W9-2]
DR RefSeq; XP_011509467.1; XM_011511165.2.
DR AlphaFoldDB; Q5W5W9; -.
DR STRING; 9606.ENSP00000330269; -.
DR iPTMnet; Q5W5W9; -.
DR PhosphoSitePlus; Q5W5W9; -.
DR BioMuta; RESP18; -.
DR PRIDE; Q5W5W9; -.
DR ProteomicsDB; 65807; -. [Q5W5W9-1]
DR ProteomicsDB; 65808; -. [Q5W5W9-2]
DR ProteomicsDB; 65809; -. [Q5W5W9-3]
DR Antibodypedia; 52248; 7 antibodies from 6 providers.
DR DNASU; 389075; -.
DR Ensembl; ENST00000333527.6; ENSP00000330269.5; ENSG00000182698.12. [Q5W5W9-2]
DR Ensembl; ENST00000392083.5; ENSP00000375933.1; ENSG00000182698.12. [Q5W5W9-1]
DR GeneID; 389075; -.
DR KEGG; hsa:389075; -.
DR MANE-Select; ENST00000333527.6; ENSP00000330269.5; NM_001007089.4; NP_001007090.3.
DR UCSC; uc002vlc.4; human. [Q5W5W9-2]
DR CTD; 389075; -.
DR DisGeNET; 389075; -.
DR GeneCards; RESP18; -.
DR HGNC; HGNC:33762; RESP18.
DR HPA; ENSG00000182698; Tissue enriched (brain).
DR MIM; 612721; gene.
DR neXtProt; NX_Q5W5W9; -.
DR OpenTargets; ENSG00000182698; -.
DR VEuPathDB; HostDB:ENSG00000182698; -.
DR eggNOG; KOG0793; Eukaryota.
DR GeneTree; ENSGT00390000008124; -.
DR HOGENOM; CLU_106769_0_0_1; -.
DR InParanoid; Q5W5W9; -.
DR OMA; KIMRLLW; -.
DR OrthoDB; 1329808at2759; -.
DR PhylomeDB; Q5W5W9; -.
DR TreeFam; TF338242; -.
DR BioGRID-ORCS; 389075; 11 hits in 1066 CRISPR screens.
DR GenomeRNAi; 389075; -.
DR Pharos; Q5W5W9; Tdark.
DR PRO; PR:Q5W5W9; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q5W5W9; protein.
DR Bgee; ENSG00000182698; Expressed in nucleus accumbens and 34 other tissues.
DR GO; GO:0031410; C:cytoplasmic vesicle; IEA:UniProtKB-KW.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR InterPro; IPR024833; RESP18.
DR InterPro; IPR029403; RESP18_dom.
DR PANTHER; PTHR17314; PTHR17314; 1.
DR Pfam; PF14948; RESP18; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasmic vesicle; Endoplasmic reticulum;
KW Golgi apparatus; Reference proteome.
FT CHAIN 1..228
FT /note="Regulated endocrine-specific protein 18"
FT /id="PRO_0000336992"
FT VAR_SEQ 1..124
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000305"
FT /id="VSP_059544"
FT VAR_SEQ 1..60
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_059545"
FT VAR_SEQ 61..77
FT /note="FLLLNSCPGGCSDTSAH -> MWKALARFLADTTILPL (in isoform
FT 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_059546"
FT VAR_SEQ 155
FT /note="E -> EQEEKLQLLFPSETH (in isoform 1)"
FT /evidence="ECO:0000305"
FT /id="VSP_059547"
FT VAR_SEQ 186..201
FT /note="ITYRCSYGGLDMMQAP -> GFSGPLPTVGRNPVAD (in isoform 1)"
FT /evidence="ECO:0000305"
FT /id="VSP_059548"
FT VAR_SEQ 202..228
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000305"
FT /id="VSP_059549"
SQ SEQUENCE 228 AA; 24956 MW; DB2551B37CAE809C CRC64;
MAVDVEFGVA GWWEAAAPLS PSAVAATFTE TWPGSERAEP GRIQHPLWPG SSEGLQLLVC
FLLLNSCPGG CSDTSAHDGQ DQVGVGQLWP LQGFATPVFQ HLQVVLQQII PQGLFWKDDI
TQDAMIQKME HASRLHPQEP CLKDGKALFP TKTTESPLAK VNRDQCFTSE VVSKALKQEV
ANPVKITYRC SYGGLDMMQA PGPSKEEIIY KIMRLLWATS YCGPQPCG
