PSD2_HUMAN
ID PSD2_HUMAN Reviewed; 771 AA.
AC Q9BQI7; D3DQD3; Q8N3J8;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=PH and SEC7 domain-containing protein 2;
DE AltName: Full=Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 C;
DE Short=Exchange factor for ARF6 C;
DE AltName: Full=Pleckstrin homology and SEC7 domain-containing protein 2;
GN Name=PSD2; Synonyms=EFA6C;
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 [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
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 [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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 339-771, AND VARIANT ARG-363.
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q6P1I6};
CC Single-pass membrane protein {ECO:0000305}. Cell projection, ruffle
CC membrane {ECO:0000250|UniProtKB:Q6P1I6}. Cleavage furrow
CC {ECO:0000250|UniProtKB:Q6P1I6}. Note=In interphase associated with the
CC plasma membrane, in particular with membrane ruffling regions. In cells
CC undergoing cytokinesis, transiently found around the ingressing
CC cleavage furrow. Not detected at the midbody ring/Flemming body.
CC {ECO:0000250|UniProtKB:Q6P1I6}.
CC -!- SIMILARITY: Belongs to the PSD family. {ECO:0000305}.
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DR EMBL; AL136559; CAB66494.1; -; mRNA.
DR EMBL; AC008667; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471062; EAW62088.1; -; Genomic_DNA.
DR EMBL; CH471062; EAW62089.1; -; Genomic_DNA.
DR EMBL; BC038233; AAH38233.1; -; mRNA.
DR EMBL; AL834268; CAD38943.1; -; mRNA.
DR CCDS; CCDS4216.1; -.
DR RefSeq; NP_115665.1; NM_032289.3.
DR RefSeq; XP_016865465.1; XM_017009976.1.
DR RefSeq; XP_016865466.1; XM_017009977.1.
DR AlphaFoldDB; Q9BQI7; -.
DR SMR; Q9BQI7; -.
DR BioGRID; 123977; 13.
DR IntAct; Q9BQI7; 1.
DR STRING; 9606.ENSP00000274710; -.
DR iPTMnet; Q9BQI7; -.
DR PhosphoSitePlus; Q9BQI7; -.
DR BioMuta; PSD2; -.
DR DMDM; 313104198; -.
DR jPOST; Q9BQI7; -.
DR MassIVE; Q9BQI7; -.
DR PaxDb; Q9BQI7; -.
DR PeptideAtlas; Q9BQI7; -.
DR PRIDE; Q9BQI7; -.
DR ProteomicsDB; 78691; -.
DR Antibodypedia; 45396; 28 antibodies from 16 providers.
DR DNASU; 84249; -.
DR Ensembl; ENST00000274710.4; ENSP00000274710.3; ENSG00000146005.4.
DR GeneID; 84249; -.
DR KEGG; hsa:84249; -.
DR MANE-Select; ENST00000274710.4; ENSP00000274710.3; NM_032289.4; NP_115665.1.
DR UCSC; uc003leu.2; human.
DR CTD; 84249; -.
DR DisGeNET; 84249; -.
DR GeneCards; PSD2; -.
DR HGNC; HGNC:19092; PSD2.
DR HPA; ENSG00000146005; Tissue enriched (brain).
DR neXtProt; NX_Q9BQI7; -.
DR OpenTargets; ENSG00000146005; -.
DR PharmGKB; PA134885177; -.
DR VEuPathDB; HostDB:ENSG00000146005; -.
DR eggNOG; KOG0932; Eukaryota.
DR GeneTree; ENSGT00940000159674; -.
DR HOGENOM; CLU_011021_4_0_1; -.
DR InParanoid; Q9BQI7; -.
DR OMA; PKETHDK; -.
DR OrthoDB; 301851at2759; -.
DR PhylomeDB; Q9BQI7; -.
DR TreeFam; TF319755; -.
DR PathwayCommons; Q9BQI7; -.
DR SignaLink; Q9BQI7; -.
DR BioGRID-ORCS; 84249; 9 hits in 1065 CRISPR screens.
DR ChiTaRS; PSD2; human.
DR GenomeRNAi; 84249; -.
DR Pharos; Q9BQI7; Tdark.
DR PRO; PR:Q9BQI7; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9BQI7; protein.
DR Bgee; ENSG00000146005; Expressed in lateral globus pallidus and 133 other tissues.
DR ExpressionAtlas; Q9BQI7; baseline and differential.
DR Genevisible; Q9BQI7; HS.
DR GO; GO:0032154; C:cleavage furrow; ISS:UniProtKB.
DR GO; GO:0030425; C:dendrite; IEA:Ensembl.
DR GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR GO; GO:0098794; C:postsynapse; IEA:Ensembl.
DR GO; GO:0032587; C:ruffle membrane; ISS:UniProtKB.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:InterPro.
DR GO; GO:0005543; F:phospholipid binding; IEA:InterPro.
DR GO; GO:0032012; P:regulation of ARF protein signal transduction; IEA:InterPro.
DR CDD; cd00171; Sec7; 1.
DR Gene3D; 1.10.1000.11; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR041681; PH_9.
DR InterPro; IPR001605; PH_dom-spectrin-type.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR023394; Sec7_C_sf.
DR InterPro; IPR000904; Sec7_dom.
DR InterPro; IPR035999; Sec7_dom_sf.
DR Pfam; PF15410; PH_9; 1.
DR Pfam; PF01369; Sec7; 1.
DR PRINTS; PR00683; SPECTRINPH.
DR SMART; SM00233; PH; 1.
DR SMART; SM00222; Sec7; 1.
DR SUPFAM; SSF48425; SSF48425; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
DR PROSITE; PS50190; SEC7; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Cell projection; Coiled coil; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..771
FT /note="PH and SEC7 domain-containing protein 2"
FT /id="PRO_0000334162"
FT TRANSMEM 622..639
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 260..462
FT /note="SEC7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00189"
FT DOMAIN 512..625
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 1..67
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 107..136
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 207..230
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 244..307
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 739..771
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 651..680
FT /evidence="ECO:0000255"
FT COMPBIAS 1..26
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 51..65
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 271..294
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 746..771
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 191
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6P1I6"
FT VARIANT 31
FT /note="R -> Q (in dbSNP:rs34880693)"
FT /id="VAR_043346"
FT VARIANT 51
FT /note="R -> M (in dbSNP:rs3797902)"
FT /id="VAR_043347"
FT VARIANT 363
FT /note="G -> R (in dbSNP:rs35714177)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_043348"
SQ SEQUENCE 771 AA; 84660 MW; 3D7E08229429ED78 CRC64;
MEEDKLLSAV PEEGDATRDP GPEPEEEPGV RNGMASEGLN SSLCSPGHER RGTPADTEEP
TKDPDVAFHG LSLGLSLTNG LALGPDLNIL EDSAESRPWR AGVLAEGDNA SRSLYPDAED
PQLGLDGPGE PDVRDGFSAT FEKILESELL RGTQYSSLDS LDGLSLTDES DSCVSFEAPL
TPLIQQRARD SPEPGAGLGI GDMAFEGDMG AAGGDGELGS PLRRSISSSR SENVLSRLSL
MAMPNGFHED GPQGPGGDED DDEEDTDKLL NSASDPSLKD GLSDSDSELS SSEGLEPGSA
DPLANGCQGV SEAAHRLARR LYHLEGFQRC DVARQLGKNN EFSRLVAGEY LSFFDFSGLT
LDGALRTFLK AFPLMGETQE RERVLTHFSR RYCQCNPDDS TSEDGIHTLT CALMLLNTDL
HGHNIGKKMS CQQFIANLDQ LNDGQDFAKD LLKTLYNSIK NEKLEWAIDE DELRKSLSEL
VDDKFGTGTK KVTRILDGGN PFLDVPQALS ATTYKHGVLT RKTHADMDGK RTPRGRRGWK
KFYAVLKGTI LYLQKDEYRP DKALSEGDLK NAIRVHHALA TRASDYSKKS NVLKLKTADW
RVFLFQAPSK EEMLSWILRI NLVAAIFSAP AFPAAVSSMK KFCRPLLPSC TTRLCQEEQL
RSHENKLRQL TAELAEHRCH PVERGIKSKE AEEYRLKEHY LTFEKSRYET YIHLLAMKIK
VGSDDLERIE ARLATLEGDD PSLRKTHSSP ALSQGHVTGS KTTKDATGPD T
