SMAKA_HUMAN
ID SMAKA_HUMAN Reviewed; 95 AA.
AC Q9BSF0; D3DPI3; P0C876; Q53TC7;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Small membrane A-kinase anchor protein;
DE Short=Small membrane AKAP;
DE Short=smAKAP;
GN Name=C2orf88;
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=Trachea;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [3]
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).
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], AND VARIANT ILE-56.
RC TISSUE=Uterus;
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 PROTEIN SEQUENCE OF 6-33 AND 38-95, FUNCTION, INTERACTION WITH PRKAR1A AND
RP PRKAR1B, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MYRISTOYLATION AT GLY-2,
RP PALMITOYLATION AT CYS-3, AND MUTAGENESIS OF GLY-2 AND CYS-3.
RX PubMed=23115245; DOI=10.1074/jbc.m112.395970;
RA Burgers P.P., Ma Y., Margarucci L., Mackey M., van der Heyden M.A.,
RA Ellisman M., Scholten A., Taylor S.S., Heck A.J.;
RT "A small novel A-kinase anchoring protein (AKAP) that localizes
RT specifically protein kinase A-regulatory subunit I (PKA-RI) to the plasma
RT membrane.";
RL J. Biol. Chem. 287:43789-43797(2012).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-92, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Binds to type I regulatory subunits of protein kinase A (PKA-
CC RI) and may anchor/target them to the plasma membrane.
CC {ECO:0000269|PubMed:23115245}.
CC -!- SUBUNIT: Interacts with PRKAR1A and PRKAR1B.
CC {ECO:0000269|PubMed:23115245}.
CC -!- INTERACTION:
CC Q9BSF0; Q6IPU0: CENPP; NbExp=3; IntAct=EBI-744298, EBI-10250303;
CC Q9BSF0; P10644: PRKAR1A; NbExp=9; IntAct=EBI-744298, EBI-476431;
CC Q9BSF0; P31323: PRKAR2B; NbExp=3; IntAct=EBI-744298, EBI-2930670;
CC Q9BSF0; Q8NF64-2: ZMIZ2; NbExp=3; IntAct=EBI-744298, EBI-10182121;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23115245}.
CC Note=The GFP-tagged protein has been detected at the plasma membrane,
CC enriched in filopodia and cell-cell junctions.
CC {ECO:0000269|PubMed:23115245}.
CC -!- TISSUE SPECIFICITY: Expressed in heart (at protein level).
CC {ECO:0000269|PubMed:23115245}.
CC -!- PTM: May be palmitoylated at Cys-3. {ECO:0000269|PubMed:23115245}.
CC -!- SIMILARITY: Belongs to the small membrane AKAP family. {ECO:0000305}.
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DR EMBL; AK313395; BAG36193.1; -; mRNA.
DR EMBL; AK075168; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC010679; AAX93233.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10878.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10879.1; -; Genomic_DNA.
DR EMBL; BC005083; AAH05083.1; -; mRNA.
DR CCDS; CCDS42792.1; -.
DR RefSeq; NP_001035984.1; NM_001042519.1.
DR RefSeq; NP_001035985.1; NM_001042520.1.
DR RefSeq; NP_001035986.1; NM_001042521.1.
DR RefSeq; NP_115697.2; NM_032321.2.
DR RefSeq; XP_005246962.1; XM_005246905.1.
DR RefSeq; XP_006712858.1; XM_006712795.2.
DR RefSeq; XP_011510284.1; XM_011511982.1.
DR RefSeq; XP_011510285.1; XM_011511983.1.
DR RefSeq; XP_011510286.1; XM_011511984.2.
DR RefSeq; XP_011510287.1; XM_011511985.2.
DR RefSeq; XP_011510288.1; XM_011511986.2.
DR RefSeq; XP_016860585.1; XM_017005096.1.
DR PDB; 5HVZ; X-ray; 2.00 A; C=56-79.
DR PDBsum; 5HVZ; -.
DR AlphaFoldDB; Q9BSF0; -.
DR SMR; Q9BSF0; -.
DR BioGRID; 124008; 15.
DR IntAct; Q9BSF0; 12.
DR STRING; 9606.ENSP00000345107; -.
DR iPTMnet; Q9BSF0; -.
DR PhosphoSitePlus; Q9BSF0; -.
DR SwissPalm; Q9BSF0; -.
DR BioMuta; C2orf88; -.
DR jPOST; Q9BSF0; -.
DR MassIVE; Q9BSF0; -.
DR MaxQB; Q9BSF0; -.
DR PaxDb; Q9BSF0; -.
DR PeptideAtlas; Q9BSF0; -.
DR PRIDE; Q9BSF0; -.
DR ProteomicsDB; 78883; -.
DR Antibodypedia; 62058; 44 antibodies from 11 providers.
DR DNASU; 84281; -.
DR Ensembl; ENST00000340623.4; ENSP00000345107.4; ENSG00000187699.10.
DR Ensembl; ENST00000396974.2; ENSP00000380172.2; ENSG00000187699.10.
DR Ensembl; ENST00000409870.1; ENSP00000386649.1; ENSG00000187699.10.
DR Ensembl; ENST00000443551.2; ENSP00000405225.2; ENSG00000187699.10.
DR GeneID; 84281; -.
DR KEGG; hsa:84281; -.
DR MANE-Select; ENST00000340623.4; ENSP00000345107.4; NM_001042519.2; NP_001035984.1.
DR UCSC; uc002urq.4; human.
DR CTD; 84281; -.
DR DisGeNET; 84281; -.
DR GeneCards; C2orf88; -.
DR HGNC; HGNC:28191; C2orf88.
DR HPA; ENSG00000187699; Tissue enhanced (testis).
DR MalaCards; C2orf88; -.
DR MIM; 615117; gene.
DR neXtProt; NX_Q9BSF0; -.
DR OpenTargets; ENSG00000187699; -.
DR PharmGKB; PA164717227; -.
DR VEuPathDB; HostDB:ENSG00000187699; -.
DR eggNOG; ENOG502S8S1; Eukaryota.
DR GeneTree; ENSGT00390000011537; -.
DR HOGENOM; CLU_187810_0_0_1; -.
DR InParanoid; Q9BSF0; -.
DR OMA; CIKSKDA; -.
DR OrthoDB; 1536209at2759; -.
DR PhylomeDB; Q9BSF0; -.
DR TreeFam; TF338355; -.
DR PathwayCommons; Q9BSF0; -.
DR SignaLink; Q9BSF0; -.
DR BioGRID-ORCS; 84281; 19 hits in 1052 CRISPR screens.
DR ChiTaRS; C2orf88; human.
DR GenomeRNAi; 84281; -.
DR Pharos; Q9BSF0; Tdark.
DR PRO; PR:Q9BSF0; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9BSF0; protein.
DR Bgee; ENSG00000187699; Expressed in ileal mucosa and 156 other tissues.
DR ExpressionAtlas; Q9BSF0; baseline and differential.
DR Genevisible; Q9BSF0; HS.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0034237; F:protein kinase A regulatory subunit binding; IEA:InterPro.
DR InterPro; IPR027969; Small_membr_AKAP.
DR PANTHER; PTHR36471; PTHR36471; 1.
DR Pfam; PF15127; SmAKAP; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Cell membrane; Direct protein sequencing; Lipoprotein;
KW Membrane; Myristate; Palmitate; Phosphoprotein; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000305"
FT CHAIN 2..95
FT /note="Small membrane A-kinase anchor protein"
FT /id="PRO_0000348430"
FT REGION 56..74
FT /note="PKA-RI-binding"
FT MOD_RES 40
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9CPS8"
FT MOD_RES 92
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000305|PubMed:23115245"
FT LIPID 3
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000305|PubMed:23115245"
FT VARIANT 56
FT /note="T -> I (in dbSNP:rs6753459)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_046151"
FT MUTAGEN 2
FT /note="G->A: Loss of plasma membrane localization."
FT /evidence="ECO:0000269|PubMed:23115245"
FT MUTAGEN 3
FT /note="C->A: Loss of plasma membrane localization."
FT /evidence="ECO:0000269|PubMed:23115245"
FT CONFLICT 26
FT /note="E -> Q (in Ref. 2; AK075168)"
FT /evidence="ECO:0000305"
FT HELIX 57..74
FT /evidence="ECO:0007829|PDB:5HVZ"
SQ SEQUENCE 95 AA; 10970 MW; 9E6DDFAF29F29551 CRC64;
MGCMKSKQTF PFPTIYEGEK QHESEEPFMP EERCLPRMAS PVNVKEEVKE PPGTNTVILE
YAHRLSQDIL CDALQQWACN NIKYHDIPYI ESEGP
