POPD3_HUMAN
ID POPD3_HUMAN Reviewed; 291 AA.
AC Q9HBV1; B2RA98; Q5T3Y8; Q8TBW6;
DT 31-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2003, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Popeye domain-containing protein 3;
DE Short=Popeye protein 3;
GN Name=POPDC3; Synonyms=POP3;
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, AND TISSUE SPECIFICITY.
RX PubMed=10882522; DOI=10.1006/dbio.2000.9751;
RA Andree B., Hillemann T., Kessler-Icekson G., Schmitt-John T., Jockusch H.,
RA Arnold H.-H., Brand T.;
RT "Isolation and characterization of the novel popeye gene family expressed
RT in skeletal muscle and heart.";
RL Dev. Biol. 223:371-382(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
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=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
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=Skeletal muscle;
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 INVOLVEMENT IN LGMDR26, VARIANTS LGMDR26 HIS-155; PHE-217 AND GLN-261,
RP CHARACTERIZATION OF VARIANTS LGMDR26 HIS-155; PHE-217 AND GLN-261,
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=31610034; DOI=10.1002/ana.25620;
RA Vissing J., Johnson K., Toepf A., Nafissi S., Diaz-Manera J., French V.M.,
RA Schindler R.F., Sarathchandra P., Loekken N., Rinne S., Freund M.,
RA Decher N., Mueller T., Duno M., Krag T., Brand T., Straub V.;
RT "POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular
RT Dystrophy.";
RL Ann. Neurol. 86:832-843(2019).
CC -!- FUNCTION: May play a role in the maintenance of heart function
CC mediated, at least in part, through cAMP-binding. May play a role in
CC the regulation of KCNK2/TREK-1-mediated current amplitude
CC (PubMed:31610034). {ECO:0000250|UniProtKB:Q9ES81,
CC ECO:0000269|PubMed:10882522, ECO:0000269|PubMed:31610034}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed predominantly in skeletal muscle (at
CC protein level) (PubMed:10882522, PubMed:31610034). Also detected in
CC heart (PubMed:10882522). {ECO:0000269|PubMed:10882522,
CC ECO:0000269|PubMed:31610034}.
CC -!- DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 26
CC (LGMDR26) [MIM:618848]: An autosomal recessive muscular disorder
CC characterized by adult onset of weakness and atrophy of proximal limb
CC muscles, elevated serum creatine kinase levels, and dystrophic findings
CC on muscle biopsy. There is no cardiac or respiratory involvement.
CC {ECO:0000269|PubMed:31610034}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the popeye family. {ECO:0000305}.
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DR EMBL; AF204171; AAG23404.1; -; mRNA.
DR EMBL; AK314101; BAG36795.1; -; mRNA.
DR EMBL; AL359709; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356775; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48427.1; -; Genomic_DNA.
DR EMBL; BC022323; AAH22323.1; -; mRNA.
DR CCDS; CCDS5052.1; -.
DR RefSeq; NP_071756.2; NM_022361.4.
DR RefSeq; XP_011534369.1; XM_011536067.2.
DR RefSeq; XP_016866683.1; XM_017011194.1.
DR RefSeq; XP_016866684.1; XM_017011195.1.
DR AlphaFoldDB; Q9HBV1; -.
DR BioGRID; 122102; 8.
DR IntAct; Q9HBV1; 1.
DR STRING; 9606.ENSP00000254765; -.
DR GlyGen; Q9HBV1; 1 site.
DR PhosphoSitePlus; Q9HBV1; -.
DR BioMuta; POPDC3; -.
DR DMDM; 38258245; -.
DR MassIVE; Q9HBV1; -.
DR PaxDb; Q9HBV1; -.
DR PeptideAtlas; Q9HBV1; -.
DR PRIDE; Q9HBV1; -.
DR Antibodypedia; 32110; 135 antibodies from 22 providers.
DR DNASU; 64208; -.
DR Ensembl; ENST00000254765.4; ENSP00000254765.3; ENSG00000132429.10.
DR GeneID; 64208; -.
DR KEGG; hsa:64208; -.
DR MANE-Select; ENST00000254765.4; ENSP00000254765.3; NM_022361.5; NP_071756.2.
DR UCSC; uc003prb.4; human.
DR CTD; 64208; -.
DR DisGeNET; 64208; -.
DR GeneCards; POPDC3; -.
DR HGNC; HGNC:17649; POPDC3.
DR HPA; ENSG00000132429; Tissue enhanced (skeletal muscle, tongue).
DR MalaCards; POPDC3; -.
DR MIM; 605824; gene.
DR MIM; 618848; phenotype.
DR neXtProt; NX_Q9HBV1; -.
DR OpenTargets; ENSG00000132429; -.
DR PharmGKB; PA134935151; -.
DR VEuPathDB; HostDB:ENSG00000132429; -.
DR eggNOG; ENOG502QWBZ; Eukaryota.
DR GeneTree; ENSGT00390000002563; -.
DR HOGENOM; CLU_048494_2_1_1; -.
DR InParanoid; Q9HBV1; -.
DR OMA; QGFRYDI; -.
DR OrthoDB; 1369469at2759; -.
DR PhylomeDB; Q9HBV1; -.
DR TreeFam; TF326644; -.
DR PathwayCommons; Q9HBV1; -.
DR SignaLink; Q9HBV1; -.
DR BioGRID-ORCS; 64208; 10 hits in 1073 CRISPR screens.
DR GeneWiki; POPDC3; -.
DR GenomeRNAi; 64208; -.
DR Pharos; Q9HBV1; Tbio.
DR PRO; PR:Q9HBV1; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9HBV1; protein.
DR Bgee; ENSG00000132429; Expressed in skeletal muscle tissue of rectus abdominis and 148 other tissues.
DR ExpressionAtlas; Q9HBV1; baseline and differential.
DR Genevisible; Q9HBV1; HS.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0042383; C:sarcolemma; IBA:GO_Central.
DR GO; GO:0030552; F:cAMP binding; ISS:UniProtKB.
DR GO; GO:0007507; P:heart development; IBA:GO_Central.
DR GO; GO:0042391; P:regulation of membrane potential; ISS:UniProtKB.
DR GO; GO:0007519; P:skeletal muscle tissue development; IBA:GO_Central.
DR GO; GO:0051146; P:striated muscle cell differentiation; IBA:GO_Central.
DR InterPro; IPR018490; cNMP-bd-like.
DR InterPro; IPR006916; Popeye_prot.
DR PANTHER; PTHR12101; PTHR12101; 1.
DR Pfam; PF04831; Popeye; 1.
DR SUPFAM; SSF51206; SSF51206; 1.
PE 1: Evidence at protein level;
KW cAMP; cAMP-binding; Glycoprotein; Limb-girdle muscular dystrophy; Membrane;
KW Nucleotide-binding; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..291
FT /note="Popeye domain-containing protein 3"
FT /id="PRO_0000046795"
FT TRANSMEM 27..44
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 48..70
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 77..99
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 4
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 106
FT /note="R -> Q (in dbSNP:rs11961225)"
FT /id="VAR_053602"
FT VARIANT 155
FT /note="L -> H (in LGMDR26; causes aberrant modulation of
FT the mechano-gated potassium channel KCNK2, when tested in a
FT heterologous system; dbSNP:rs1311819000)"
FT /evidence="ECO:0000269|PubMed:31610034"
FT /id="VAR_084034"
FT VARIANT 217
FT /note="L -> F (in LGMDR26; causes aberrant modulation of
FT the mechano-gated potassium channel KCNK2, when tested in a
FT heterologous system; dbSNP:rs1054547392)"
FT /evidence="ECO:0000269|PubMed:31610034"
FT /id="VAR_084035"
FT VARIANT 261
FT /note="R -> Q (in LGMDR26; decreased protein expression in
FT muscle; causes a slightly abnormal modulation of the
FT mechano-gated potassium channel KCNK2, when tested in a
FT heterologous system; dbSNP:rs1437210856)"
FT /evidence="ECO:0000269|PubMed:31610034"
FT /id="VAR_084036"
FT CONFLICT 176
FT /note="F -> S (in Ref. 1; AAG23404)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 291 AA; 33870 MW; 49A3EF5216B2DDC2 CRC64;
MERNSSLWKN LIDEHPVCTT WKQEAEGAIY HLASILFVVG FMGGSGFFGL LYVFSLLGLG
FLCSAVWAWV DVCAADIFSW NFVLFVICFM QFVHIAYQVR SITFAREFQV LYSSLFQPLG
ISLPVFRTIA LSSEVVTLEK EHCYAMQGKT SIDKLSLLVS GRIRVTVDGE FLHYIFPLQF
LDSPEWDSLR PTEEGIFQVT LTAETDCRYV SWRRKKLYLL FAQHRYISRL FSVLIGSDIA
DKLYALNDRV YIGKRYHYDI RLPNFYQMST PEIRRSPLTQ HFQNSRRYCD K
