GP101_HUMAN
ID GP101_HUMAN Reviewed; 508 AA.
AC Q96P66; Q5JSM8; Q8NG93;
DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Probable G-protein coupled receptor 101;
GN Name=GPR101;
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].
RX PubMed=11574155; DOI=10.1016/s0378-1119(01)00651-5;
RA Lee D.K., Nguyen T., Lynch K.R., Cheng R., Vanti W.B., Arkhitko O.,
RA Lewis T., Evans J.F., George S.R., O'Dowd B.F.;
RT "Discovery and mapping of ten novel G protein-coupled receptor genes.";
RL Gene 275:83-91(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12044878; DOI=10.1016/s0014-5793(02)02775-8;
RA Takeda S., Kadowaki S., Haga T., Takaesu H., Mitaku S.;
RT "Identification of G protein-coupled receptor genes from the human genome
RT sequence.";
RL FEBS Lett. 520:97-101(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Suwa M., Sato T., Okouchi I., Arita M., Futami K., Matsumoto S.,
RA Tsutsumi S., Aburatani H., Asai K., Akiyama Y.;
RT "Genome-wide discovery and analysis of human seven transmembrane helix
RT receptor genes.";
RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [7]
RP INVOLVEMENT IN PITA2, AND VARIANT PITA2 ASP-308.
RX PubMed=25470569; DOI=10.1056/nejmoa1408028;
RA Trivellin G., Daly A.F., Faucz F.R., Yuan B., Rostomyan L., Larco D.O.,
RA Schernthaner-Reiter M.H., Szarek E., Leal L.F., Caberg J.H., Castermans E.,
RA Villa C., Dimopoulos A., Chittiboina P., Xekouki P., Shah N., Metzger D.,
RA Lysy P.A., Ferrante E., Strebkova N., Mazerkina N., Zatelli M.C.,
RA Lodish M., Horvath A., de Alexandre R.B., Manning A.D., Levy I., Keil M.F.,
RA Sierra M.L., Palmeira L., Coppieters W., Georges M., Naves L.A., Jamar M.,
RA Bours V., Wu T.J., Choong C.S., Bertherat J., Chanson P., Kamenicky P.,
RA Farrell W.E., Barlier A., Quezado M., Bjelobaba I., Stojilkovic S.S.,
RA Wess J., Costanzi S., Liu P., Lupski J.R., Beckers A., Stratakis C.A.;
RT "Gigantism and acromegaly due to Xq26 microduplications and GPR101
RT mutation.";
RL N. Engl. J. Med. 371:2363-2374(2014).
CC -!- FUNCTION: Orphan receptor.
CC -!- INTERACTION:
CC Q96P66; Q9NRZ5: AGPAT4; NbExp=3; IntAct=EBI-17935713, EBI-1754287;
CC Q96P66; O14735: CDIPT; NbExp=3; IntAct=EBI-17935713, EBI-358858;
CC Q96P66; Q8NBI2: CYB561A3; NbExp=3; IntAct=EBI-17935713, EBI-10269179;
CC Q96P66; Q96Q80: DERL3; NbExp=3; IntAct=EBI-17935713, EBI-12831318;
CC Q96P66; O43561-2: LAT; NbExp=3; IntAct=EBI-17935713, EBI-8070286;
CC Q96P66; Q6N075: MFSD5; NbExp=3; IntAct=EBI-17935713, EBI-3920969;
CC Q96P66; Q9NX14: NDUFB11; NbExp=3; IntAct=EBI-17935713, EBI-1246182;
CC Q96P66; Q8N138: ORMDL3; NbExp=3; IntAct=EBI-17935713, EBI-721750;
CC Q96P66; Q5QGT7: RTP2; NbExp=3; IntAct=EBI-17935713, EBI-10244780;
CC Q96P66; Q6ICL7: SLC35E4; NbExp=3; IntAct=EBI-17935713, EBI-12867720;
CC Q96P66; Q9NUM3: SLC39A9; NbExp=3; IntAct=EBI-17935713, EBI-2823239;
CC Q96P66; Q8IVJ1: SLC41A1; NbExp=3; IntAct=EBI-17935713, EBI-12266234;
CC Q96P66; C9JKN6: THSD7B; NbExp=3; IntAct=EBI-17935713, EBI-17192156;
CC Q96P66; P48230: TM4SF4; NbExp=3; IntAct=EBI-17935713, EBI-8650934;
CC Q96P66; Q9BVK8: TMEM147; NbExp=3; IntAct=EBI-17935713, EBI-348587;
CC Q96P66; Q8WW34-2: TMEM239; NbExp=3; IntAct=EBI-17935713, EBI-11528917;
CC Q96P66; Q86WB7-2: UNC93A; NbExp=3; IntAct=EBI-17935713, EBI-13356252;
CC Q96P66; Q9H1C4: UNC93B1; NbExp=3; IntAct=EBI-17935713, EBI-4401271;
CC Q96P66; Q96EC8: YIPF6; NbExp=3; IntAct=EBI-17935713, EBI-751210;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC -!- DISEASE: Pituitary adenoma 2, growth hormone-secreting (PITA2)
CC [MIM:300943]: A form of pituitary adenoma, a neoplasm of the pituitary
CC gland and one of the most common neuroendocrine tumors. Pituitary
CC adenomas are clinically classified as functional and non-functional
CC tumors, and manifest with a variety of features, including local
CC invasion of surrounding structures and excessive hormone secretion.
CC Functional pituitary adenomas are further classified by the type of
CC hormone they secrete. PITA2 is a growth hormone-secreting benign
CC neoplasm, also known as somatotropinoma. It clinically results in
CC acromegaly, a condition characterized by coarse facial features,
CC protruding jaw, and enlarged extremities. Excessive production of
CC growth hormone in children or adolescents before the closure of
CC epiphyses causes gigantism, a condition characterized by abnormally
CC tall stature. {ECO:0000269|PubMed:25470569}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
CC {ECO:0000255|PROSITE-ProRule:PRU00521}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC06152.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF411115; AAL26486.1; -; Genomic_DNA.
DR EMBL; AB083588; BAB89301.1; -; Genomic_DNA.
DR EMBL; AB065937; BAC06152.1; ALT_INIT; Genomic_DNA.
DR EMBL; AL390879; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471150; EAW88450.1; -; Genomic_DNA.
DR EMBL; BC069439; AAH69439.1; -; mRNA.
DR CCDS; CCDS14662.1; -.
DR RefSeq; NP_473362.1; NM_054021.1.
DR AlphaFoldDB; Q96P66; -.
DR BioGRID; 123682; 25.
DR IntAct; Q96P66; 21.
DR STRING; 9606.ENSP00000298110; -.
DR ChEMBL; CHEMBL4523906; -.
DR GlyGen; Q96P66; 2 sites.
DR iPTMnet; Q96P66; -.
DR PhosphoSitePlus; Q96P66; -.
DR BioMuta; GPR101; -.
DR DMDM; 48474929; -.
DR MassIVE; Q96P66; -.
DR PaxDb; Q96P66; -.
DR PeptideAtlas; Q96P66; -.
DR PRIDE; Q96P66; -.
DR Antibodypedia; 392; 251 antibodies from 31 providers.
DR DNASU; 83550; -.
DR Ensembl; ENST00000651716.2; ENSP00000498972.1; ENSG00000165370.3.
DR GeneID; 83550; -.
DR KEGG; hsa:83550; -.
DR MANE-Select; ENST00000651716.2; ENSP00000498972.1; NM_054021.2; NP_473362.1.
DR UCSC; uc011mwh.2; human.
DR CTD; 83550; -.
DR DisGeNET; 83550; -.
DR GeneCards; GPR101; -.
DR GeneReviews; GPR101; -.
DR HGNC; HGNC:14963; GPR101.
DR HPA; ENSG00000165370; Tissue enriched (brain).
DR MalaCards; GPR101; -.
DR MIM; 300393; gene.
DR MIM; 300943; phenotype.
DR neXtProt; NX_Q96P66; -.
DR OpenTargets; ENSG00000165370; -.
DR Orphanet; 963; Acromegaly.
DR PharmGKB; PA28849; -.
DR VEuPathDB; HostDB:ENSG00000165370; -.
DR eggNOG; KOG3656; Eukaryota.
DR GeneTree; ENSGT00940000162539; -.
DR HOGENOM; CLU_009579_3_13_1; -.
DR InParanoid; Q96P66; -.
DR OMA; KVPQWVI; -.
DR OrthoDB; 1099940at2759; -.
DR PhylomeDB; Q96P66; -.
DR TreeFam; TF331895; -.
DR PathwayCommons; Q96P66; -.
DR SignaLink; Q96P66; -.
DR BioGRID-ORCS; 83550; 8 hits in 689 CRISPR screens.
DR GeneWiki; GPR101; -.
DR GenomeRNAi; 83550; -.
DR Pharos; Q96P66; Tbio.
DR PRO; PR:Q96P66; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q96P66; protein.
DR Bgee; ENSG00000165370; Expressed in nucleus accumbens and 16 other tissues.
DR Genevisible; Q96P66; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0043235; C:receptor complex; IDA:MGI.
DR GO; GO:0004930; F:G protein-coupled receptor activity; IBA:GO_Central.
DR GO; GO:0071880; P:adenylate cyclase-activating adrenergic receptor signaling pathway; IBA:GO_Central.
DR InterPro; IPR000276; GPCR_Rhodpsn.
DR InterPro; IPR017452; GPCR_Rhodpsn_7TM.
DR Pfam; PF00001; 7tm_1; 1.
DR PRINTS; PR00237; GPCRRHODOPSN.
DR PROSITE; PS00237; G_PROTEIN_RECEP_F1_1; 1.
DR PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Disease variant; Disulfide bond; G-protein coupled receptor;
KW Glycoprotein; Membrane; Receptor; Reference proteome; Transducer;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..508
FT /note="Probable G-protein coupled receptor 101"
FT /id="PRO_0000069601"
FT TOPO_DOM 1..35
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 36..56
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 57..68
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 69..89
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 90..106
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 107..127
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 128..149
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 150..170
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 171..196
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 197..217
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 218..399
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 400..420
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 421..433
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 434..454
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 455..508
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 244..338
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 476..508
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 255..285
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 321..336
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 7
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 13
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 104..182
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00521"
FT VARIANT 124
FT /note="V -> L (in dbSNP:rs1190736)"
FT /id="VAR_049398"
FT VARIANT 308
FT /note="E -> D (in PITA2; dbSNP:rs73637412)"
FT /evidence="ECO:0000269|PubMed:25470569"
FT /id="VAR_072691"
FT VARIANT 376
FT /note="L -> P (in dbSNP:rs5931046)"
FT /id="VAR_049399"
SQ SEQUENCE 508 AA; 56716 MW; E20A409F65C95BB5 CRC64;
MTSTCTNSTR ESNSSHTCMP LSKMPISLAH GIIRSTVLVI FLAASFVGNI VLALVLQRKP
QLLQVTNRFI FNLLVTDLLQ ISLVAPWVVA TSVPLFWPLN SHFCTALVSL THLFAFASVN
TIVVVSVDRY LSIIHPLSYP SKMTQRRGYL LLYGTWIVAI LQSTPPLYGW GQAAFDERNA
LCSMIWGASP SYTILSVVSF IVIPLIVMIA CYSVVFCAAR RQHALLYNVK RHSLEVRVKD
CVENEDEEGA EKKEEFQDES EFRRQHEGEV KAKEGRMEAK DGSLKAKEGS TGTSESSVEA
RGSEEVRESS TVASDGSMEG KEGSTKVEEN SMKADKGRTE VNQCSIDLGE DDMEFGEDDI
NFSEDDVEAV NIPESLPPSR RNSNSNPPLP RCYQCKAAKV IFIIIFSYVL SLGPYCFLAV
LAVWVDVETQ VPQWVITIII WLFFLQCCIH PYVYGYMHKT IKKEIQDMLK KFFCKEKPPK
EDSHPDLPGT EGGTEGKIVP SYDSATFP
