ID GASP3_HUMAN Reviewed; 547 AA. AC Q6PI77; Q9C0G2; DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot. DT 05-JUL-2004, sequence version 1. DT 27-MAR-2024, entry version 149. DE RecName: Full=G protein-coupled receptor associated sorting protein 3 {ECO:0000305}; DE AltName: Full=Protein BHLHb9; DE Short=bHLHb9; DE AltName: Full=Transcription regulator of 60 kDa {ECO:0000303|PubMed:15034937}; DE Short=p60TRP {ECO:0000303|PubMed:15034937}; GN Name=GPRASP3 {ECO:0000312|HGNC:HGNC:29353}; Synonyms=BHLHB9, KIAA1701; 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], POSSIBLE FUNCTION, SUBCELLULAR LOCATION, AND RP TISSUE SPECIFICITY. RX PubMed=15034937; DOI=10.1002/jcb.20010; RA Heese K., Yamada T., Akatsu H., Yamamoto T., Kosaka K., Nagai Y., RA Sawada T.; RT "Characterizing the new transcription regulator protein p60TRP."; RL J. Cell. Biochem. 91:1030-1042(2004). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain; RX PubMed=11214970; DOI=10.1093/dnares/7.6.347; RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XIX. The RT complete sequences of 100 new cDNA clones from brain which code for large RT proteins in vitro."; RL DNA Res. 7:347-355(2000). RN [3] 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 [4] 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 [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain; 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 INDUCTION. RX PubMed=18089774; DOI=10.1158/0008-5472.can-07-2687; RA Jacinto F.V., Ballestar E., Ropero S., Esteller M.; RT "Discovery of epigenetically silenced genes by methylated DNA RT immunoprecipitation in colon cancer cells."; RL Cancer Res. 67:11481-11486(2007). CC -!- FUNCTION: Survival and differentiation promoting protein that plays a CC role in the regulation of neurosynaptogenesis. Induces phosphatase PP2A CC activity which results in APP dephosphorylation and inhibits BACE1- CC mediated processing of APP. {ECO:0000250|UniProtKB:Q6PB60}. CC -!- SUBUNIT: Homodimer. {ECO:0000250|UniProtKB:Q6PB60}. CC -!- INTERACTION: CC Q6PI77; X5D778: ANKRD11; NbExp=3; IntAct=EBI-11519926, EBI-17183751; CC Q6PI77; P29972: AQP1; NbExp=3; IntAct=EBI-11519926, EBI-745213; CC Q6PI77; Q7L5A3: ATOSB; NbExp=3; IntAct=EBI-11519926, EBI-745689; CC Q6PI77; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-11519926, EBI-745073; CC Q6PI77; Q53TS8: C2CD6; NbExp=3; IntAct=EBI-11519926, EBI-739879; CC Q6PI77; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-11519926, EBI-744556; CC Q6PI77; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-11519926, EBI-396137; CC Q6PI77; Q16543: CDC37; NbExp=3; IntAct=EBI-11519926, EBI-295634; CC Q6PI77; Q96GN5: CDCA7L; NbExp=3; IntAct=EBI-11519926, EBI-5278764; CC Q6PI77; Q8WUE5: CT55; NbExp=3; IntAct=EBI-11519926, EBI-6873363; CC Q6PI77; P26196: DDX6; NbExp=3; IntAct=EBI-11519926, EBI-351257; CC Q6PI77; Q96JC9: EAF1; NbExp=3; IntAct=EBI-11519926, EBI-769261; CC Q6PI77; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-11519926, EBI-744099; CC Q6PI77; Q9H5Z6-2: FAM124B; NbExp=3; IntAct=EBI-11519926, EBI-11986315; CC Q6PI77; Q3B820: FAM161A; NbExp=3; IntAct=EBI-11519926, EBI-719941; CC Q6PI77; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-11519926, EBI-6658203; CC Q6PI77; O95995: GAS8; NbExp=3; IntAct=EBI-11519926, EBI-1052570; CC Q6PI77; P55040: GEM; NbExp=3; IntAct=EBI-11519926, EBI-744104; CC Q6PI77; O95872: GPANK1; NbExp=3; IntAct=EBI-11519926, EBI-751540; CC Q6PI77; A0A024R8L2: hCG_1987119; NbExp=3; IntAct=EBI-11519926, EBI-14103818; CC Q6PI77; P49639: HOXA1; NbExp=3; IntAct=EBI-11519926, EBI-740785; CC Q6PI77; Q9C086: INO80B; NbExp=3; IntAct=EBI-11519926, EBI-715611; CC Q6PI77; Q8NA54: IQUB; NbExp=3; IntAct=EBI-11519926, EBI-10220600; CC Q6PI77; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-11519926, EBI-6426443; CC Q6PI77; Q969R5: L3MBTL2; NbExp=3; IntAct=EBI-11519926, EBI-739909; CC Q6PI77; Q8WVC0: LEO1; NbExp=3; IntAct=EBI-11519926, EBI-932432; CC Q6PI77; P25800: LMO1; NbExp=3; IntAct=EBI-11519926, EBI-8639312; CC Q6PI77; Q17RB8: LONRF1; NbExp=3; IntAct=EBI-11519926, EBI-2341787; CC Q6PI77; P55081: MFAP1; NbExp=3; IntAct=EBI-11519926, EBI-1048159; CC Q6PI77; Q8IVT2: MISP; NbExp=3; IntAct=EBI-11519926, EBI-2555085; CC Q6PI77; Q00013: MPP1; NbExp=3; IntAct=EBI-11519926, EBI-711788; CC Q6PI77; P48552: NRIP1; NbExp=3; IntAct=EBI-11519926, EBI-746484; CC Q6PI77; P32242: OTX1; NbExp=3; IntAct=EBI-11519926, EBI-740446; CC Q6PI77; Q8N3R9: PALS1; NbExp=3; IntAct=EBI-11519926, EBI-2513978; CC Q6PI77; O43189: PHF1; NbExp=5; IntAct=EBI-11519926, EBI-530034; CC Q6PI77; Q96PV4: PNMA5; NbExp=3; IntAct=EBI-11519926, EBI-10171633; CC Q6PI77; O15160: POLR1C; NbExp=3; IntAct=EBI-11519926, EBI-1055079; CC Q6PI77; O43741: PRKAB2; NbExp=3; IntAct=EBI-11519926, EBI-1053424; CC Q6PI77; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-11519926, EBI-1567797; CC Q6PI77; Q9P2K3-2: RCOR3; NbExp=3; IntAct=EBI-11519926, EBI-1504830; CC Q6PI77; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-11519926, EBI-748391; CC Q6PI77; Q96B97: SH3KBP1; NbExp=5; IntAct=EBI-11519926, EBI-346595; CC Q6PI77; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-11519926, EBI-358489; CC Q6PI77; Q5MJ10: SPANXN2; NbExp=3; IntAct=EBI-11519926, EBI-12023934; CC Q6PI77; Q6ZRS2-3: SRCAP; NbExp=3; IntAct=EBI-11519926, EBI-12029182; CC Q6PI77; Q5VWN6: TASOR2; NbExp=3; IntAct=EBI-11519926, EBI-745958; CC Q6PI77; Q15560: TCEA2; NbExp=3; IntAct=EBI-11519926, EBI-710310; CC Q6PI77; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-11519926, EBI-11139477; CC Q6PI77; Q96FV9: THOC1; NbExp=3; IntAct=EBI-11519926, EBI-1765605; CC Q6PI77; Q9UKI8: TLK1; NbExp=3; IntAct=EBI-11519926, EBI-740492; CC Q6PI77; O95985: TOP3B; NbExp=3; IntAct=EBI-11519926, EBI-373403; CC Q6PI77; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-11519926, EBI-10241197; CC Q6PI77; Q99757: TXN2; NbExp=3; IntAct=EBI-11519926, EBI-2932492; CC Q6PI77; O75604: USP2; NbExp=3; IntAct=EBI-11519926, EBI-743272; CC Q6PI77; A0A024R8A9: USP20; NbExp=3; IntAct=EBI-11519926, EBI-14096082; CC Q6PI77; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-11519926, EBI-740727; CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15034937}. Nucleus CC {ECO:0000269|PubMed:15034937}. Note=Mainly cytoplasmic, and nuclear at CC lower level. CC -!- TISSUE SPECIFICITY: Highly expressed in brain. Not expressed in lung or CC liver. Down-regulated in brain from patients suffering from Alzheimer CC disease. {ECO:0000269|PubMed:15034937}. CC -!- INDUCTION: Down-regulated in colon cancer cells, due to CpG CC hypermethylation of its promoter. {ECO:0000269|PubMed:18089774}. CC -!- SIMILARITY: Belongs to the GPRASP family. {ECO:0000305}. CC -!- CAUTION: Despite its name, no basic helix-loop-helix (bHLH) domain is CC detected by any prediction tool. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAB21792.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF547055; AAQ12077.1; -; mRNA. DR EMBL; AB051488; BAB21792.1; ALT_INIT; mRNA. DR EMBL; AL035427; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471190; EAW54726.1; -; Genomic_DNA. DR EMBL; BC041409; AAH41409.1; -; mRNA. DR RefSeq; NP_001135996.1; NM_001142524.1. DR RefSeq; NP_001135997.1; NM_001142525.1. DR RefSeq; NP_001135998.1; NM_001142526.1. DR RefSeq; NP_001135999.1; NM_001142527.1. DR RefSeq; NP_001136000.1; NM_001142528.1. DR RefSeq; NP_001136001.1; NM_001142529.1. DR RefSeq; NP_001136002.1; NM_001142530.1. DR RefSeq; NP_085142.1; NM_030639.2. DR AlphaFoldDB; Q6PI77; -. DR SMR; Q6PI77; -. DR BioGRID; 123320; 60. DR IntAct; Q6PI77; 65. DR MINT; Q6PI77; -. DR STRING; 9606.ENSP00000403226; -. DR GlyGen; Q6PI77; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; Q6PI77; -. DR PhosphoSitePlus; Q6PI77; -. DR BioMuta; BHLHB9; -. DR DMDM; 74749201; -. DR EPD; Q6PI77; -. DR MassIVE; Q6PI77; -. DR PaxDb; 9606-ENSP00000361820; -. DR PeptideAtlas; Q6PI77; -. DR ProteomicsDB; 67143; -. DR Pumba; Q6PI77; -. DR Antibodypedia; 28945; 50 antibodies from 13 providers. DR DNASU; 80823; -. DR Ensembl; ENST00000361229.8; ENSP00000354675.4; ENSG00000198908.12. DR Ensembl; ENST00000372735.1; ENSP00000361820.1; ENSG00000198908.12. DR Ensembl; ENST00000447531.5; ENSP00000405893.1; ENSG00000198908.12. DR Ensembl; ENST00000448867.1; ENSP00000391722.1; ENSG00000198908.12. DR Ensembl; ENST00000457056.6; ENSP00000403226.1; ENSG00000198908.12. DR GeneID; 80823; -. DR KEGG; hsa:80823; -. DR MANE-Select; ENST00000457056.6; ENSP00000403226.1; NM_001142524.2; NP_001135996.1. DR UCSC; uc004ejo.4; human. DR AGR; HGNC:29353; -. DR CTD; 80823; -. DR DisGeNET; 80823; -. DR GeneCards; GPRASP3; -. DR HGNC; HGNC:29353; GPRASP3. DR HPA; ENSG00000198908; Low tissue specificity. DR MIM; 300921; gene. DR neXtProt; NX_Q6PI77; -. DR OpenTargets; ENSG00000198908; -. DR PharmGKB; PA134895992; -. DR VEuPathDB; HostDB:ENSG00000198908; -. DR eggNOG; ENOG502RU0K; Eukaryota. DR GeneTree; ENSGT00940000161990; -. DR HOGENOM; CLU_036908_0_0_1; -. DR InParanoid; Q6PI77; -. DR OMA; TWFWAGE; -. DR OrthoDB; 5200088at2759; -. DR PhylomeDB; Q6PI77; -. DR TreeFam; TF335652; -. DR PathwayCommons; Q6PI77; -. DR SignaLink; Q6PI77; -. DR BioGRID-ORCS; 80823; 18 hits in 781 CRISPR screens. DR GenomeRNAi; 80823; -. DR Pharos; Q6PI77; Tdark. DR PRO; PR:Q6PI77; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; Q6PI77; Protein. DR Bgee; ENSG00000198908; Expressed in cortical plate and 110 other cell types or tissues. DR GO; GO:0005829; C:cytosol; IBA:GO_Central. DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB. DR GO; GO:0005634; C:nucleus; IBA:GO_Central. DR GO; GO:0042803; F:protein homodimerization activity; ISS:CAFA. DR GO; GO:0007611; P:learning or memory; ISS:CAFA. DR GO; GO:0043524; P:negative regulation of neuron apoptotic process; ISS:CAFA. DR GO; GO:0061003; P:positive regulation of dendritic spine morphogenesis; ISS:CAFA. DR GO; GO:0050769; P:positive regulation of neurogenesis; ISS:CAFA. DR GO; GO:0051965; P:positive regulation of synapse assembly; ISS:CAFA. DR Gene3D; 1.25.10.10; Leucine-rich Repeat Variant; 1. DR InterPro; IPR011989; ARM-like. DR InterPro; IPR006911; ARM-rpt_dom. DR InterPro; IPR016024; ARM-type_fold. DR InterPro; IPR043374; GASP1-3. DR PANTHER; PTHR46414:SF2; PROTEIN BHLHB9; 1. DR PANTHER; PTHR46414; PROTEIN BHLHB9-RELATED; 1. DR Pfam; PF04826; Arm_2; 1. DR SUPFAM; SSF48371; ARM repeat; 1. DR Genevisible; Q6PI77; HS. PE 1: Evidence at protein level; KW Cytoplasm; Nucleus; Reference proteome. FT CHAIN 1..547 FT /note="G protein-coupled receptor associated sorting FT protein 3" FT /id="PRO_0000334662" FT REGION 1..32 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 80..102 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 9..23 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VARIANT 132 FT /note="S -> G (in dbSNP:rs2179675)" FT /id="VAR_049266" FT VARIANT 318 FT /note="C -> R (in dbSNP:rs4514179)" FT /id="VAR_049267" SQ SEQUENCE 547 AA; 60291 MW; EC0E8D95CC7CE09D CRC64; MAGTKNKTRA QAKTEKKAAI QAKAGAEREA TGVVRPVAKT RAKAKAKTGS KTDAVAEMKA VSKNKVVAET KEGALSEPKT LGKAMGDFTP KAGNESTSST CKNEAGTDAW FWAGEEATIN SWFWNGEEAG NSFSTKNDKP EIGAQVCAEE LEPAAGADCK PRSGAEEEEE ENVIGNWFWE GDDTSFDPNP KPVSRIVKPQ PVYEINEKNR PKDWSEVTIW PNAPAVTPAV LGFRSQAPSE ASPPSYIVLA SAEENACSLP VATACRPSRN TRSCSQPIPE CRFDSDPCIQ TIDEIRRQIR IREVNGIKPF ACPCKMECYM DSEEFEKLVS LLKSTTDPLI HKIARIAMGV HNVHPFAQEF INEVGVVTLI ESLLSFPSPE MRKKTVITLN PPSGDERQRK IELHVKHMCK ETMSFPLNSP GQQSGLKILG QLTTDFVHHY IVANYFSELF HLLSSGNCKT RNLVLKLLLN MSENPTAARD MINMKALAAL KLIFNQKEAK ANLVSGVAIF INIKEHIRKG SIVVVDHLSY NTLMAIFREV KEIIETM //