SAXO2_HUMAN
ID SAXO2_HUMAN Reviewed; 398 AA.
AC Q658L1; B4E2M2;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 25-OCT-2004, sequence version 1.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Stabilizer of axonemal microtubules 2;
GN Name=SAXO2; Synonyms=FAM154B;
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] (ISOFORM 2).
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] (ISOFORM 1).
RC TISSUE=Stomach;
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).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
CC -!- INTERACTION:
CC Q658L1; Q96EF6: FBXO17; NbExp=3; IntAct=EBI-18394432, EBI-2510157;
CC Q658L1; Q14192: FHL2; NbExp=3; IntAct=EBI-18394432, EBI-701903;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q658L1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q658L1-2; Sequence=VSP_055086;
CC -!- SIMILARITY: Belongs to the FAM154 family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-6 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AK304339; BAG65184.1; -; mRNA.
DR EMBL; AL833762; CAH56241.1; -; mRNA.
DR EMBL; AC026624; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS32310.1; -. [Q658L1-1]
DR RefSeq; NP_001008227.1; NM_001008226.1. [Q658L1-1]
DR RefSeq; NP_001335631.1; NM_001348702.1. [Q658L1-2]
DR RefSeq; NP_001335632.1; NM_001348703.1. [Q658L1-2]
DR AlphaFoldDB; Q658L1; -.
DR BioGRID; 129656; 2.
DR IntAct; Q658L1; 2.
DR STRING; 9606.ENSP00000340445; -.
DR iPTMnet; Q658L1; -.
DR PhosphoSitePlus; Q658L1; -.
DR BioMuta; SAXO2; -.
DR DMDM; 74708419; -.
DR MassIVE; Q658L1; -.
DR PaxDb; Q658L1; -.
DR PeptideAtlas; Q658L1; -.
DR PRIDE; Q658L1; -.
DR ProteomicsDB; 5831; -.
DR ProteomicsDB; 65922; -. [Q658L1-1]
DR Antibodypedia; 52475; 31 antibodies from 12 providers.
DR DNASU; 283726; -.
DR Ensembl; ENST00000339465.5; ENSP00000340445.5; ENSG00000188659.10. [Q658L1-1]
DR GeneID; 283726; -.
DR KEGG; hsa:283726; -.
DR UCSC; uc002bgv.4; human. [Q658L1-1]
DR CTD; 283726; -.
DR DisGeNET; 283726; -.
DR GeneCards; SAXO2; -.
DR HGNC; HGNC:33727; SAXO2.
DR HPA; ENSG00000188659; Group enriched (epididymis, fallopian tube, testis).
DR neXtProt; NX_Q658L1; -.
DR OpenTargets; ENSG00000188659; -.
DR PharmGKB; PA162386665; -.
DR VEuPathDB; HostDB:ENSG00000188659; -.
DR eggNOG; ENOG502QWHB; Eukaryota.
DR GeneTree; ENSGT00390000007252; -.
DR HOGENOM; CLU_047658_0_0_1; -.
DR InParanoid; Q658L1; -.
DR OMA; ERCTVQK; -.
DR OrthoDB; 732196at2759; -.
DR PhylomeDB; Q658L1; -.
DR TreeFam; TF319394; -.
DR PathwayCommons; Q658L1; -.
DR SignaLink; Q658L1; -.
DR BioGRID-ORCS; 283726; 10 hits in 1047 CRISPR screens.
DR GenomeRNAi; 283726; -.
DR Pharos; Q658L1; Tdark.
DR PRO; PR:Q658L1; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q658L1; protein.
DR Bgee; ENSG00000188659; Expressed in right uterine tube and 106 other tissues.
DR ExpressionAtlas; Q658L1; baseline and differential.
DR Genevisible; Q658L1; HS.
DR GO; GO:0005879; C:axonemal microtubule; IBA:GO_Central.
DR GO; GO:0005814; C:centriole; IBA:GO_Central.
DR GO; GO:0036064; C:ciliary basal body; IBA:GO_Central.
DR GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
DR GO; GO:0036126; C:sperm flagellum; IBA:GO_Central.
DR GO; GO:0008017; F:microtubule binding; IBA:GO_Central.
DR InterPro; IPR033336; SAXO1/2.
DR PANTHER; PTHR31516; PTHR31516; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..398
FT /note="Stabilizer of axonemal microtubules 2"
FT /id="PRO_0000321839"
FT VAR_SEQ 1..18
FT /note="MGAKSMRSWCLCQICSCG -> MPW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055086"
FT VARIANT 8
FT /note="S -> G (in dbSNP:rs11631813)"
FT /id="VAR_039359"
FT VARIANT 34
FT /note="P -> L (in dbSNP:rs16973457)"
FT /id="VAR_039360"
FT VARIANT 225
FT /note="W -> R (in dbSNP:rs11630197)"
FT /id="VAR_039361"
SQ SEQUENCE 398 AA; 45933 MW; 3A140F0C31B065C8 CRC64;
MGAKSMRSWC LCQICSCGSD YCPYEIVKQP RHVPEEYKPK QGKIDLGTTY KRDLNSYKVQ
PVAIVRPLER QVKKGKLDTV PTYKDDYRAW DLHKSELYKP EQTYHPPTVK FGNSTTFQDD
FVPQEIKPRQ SFKPSSVVKR STAPFNGITS HRLDYIPHQL ELKFERPKEV YKPTDQRFED
LTTHRCDFQG LIGETAKLCR PVHTRVTQNA LFEGSTEFRE SFQPWEIPPP EVKKVPEYVP
PTGSMLLNST SHLDYVPYQA NHVVPIRPVS QKRSNNFPFQ GKSIMKEDFP AWESCRQGLI
KKQQQIPNPS GKFDGLSTFR SHYVPHELIP TESCKPLNIA FKSSVPFDDV TMYSVEYTPK
RQEICPASYP SPPGYIFDNT NSQGHKFFRK IIPAVKAF
