CLXN_HUMAN
ID CLXN_HUMAN Reviewed; 211 AA.
AC Q9HAE3; B4DSB4; E7EVN7;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Calaxin {ECO:0000250|UniProtKB:Q9D3N2};
DE AltName: Full=EF-hand calcium-binding domain-containing protein 1;
GN Name=CLXN {ECO:0000312|HGNC:HGNC:25678}; Synonyms=EFCAB1;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Embryo;
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 GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
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).
CC -!- FUNCTION: Component of the outer dynein arm-docking complex (ODA-DC)
CC that mediates outer dynein arms (ODA) binding onto the doublet
CC microtubule. Seems to regulate the assembly of both ODAs and their
CC axonemal docking complex onto ciliary microtubules (By similarity).
CC Regulates ciliary and flagellar motility and is required for cilia-
CC driven determination of body laterality (By similarity).
CC {ECO:0000250|UniProtKB:Q32L26, ECO:0000250|UniProtKB:Q9D3N2}.
CC -!- SUBUNIT: Component of the outer dynein arm-docking complex along with
CC ODAD1, ODAD2, ODAD3 and ODAD4. {ECO:0000250|UniProtKB:Q32L26}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q96M63}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9HAE3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9HAE3-2; Sequence=VSP_041330, VSP_041331;
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DR EMBL; AK021829; BAB13906.1; -; mRNA.
DR EMBL; AK299659; BAG61576.1; -; mRNA.
DR EMBL; AC022915; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC025676; AAH25676.1; -; mRNA.
DR CCDS; CCDS47853.1; -. [Q9HAE3-2]
DR CCDS; CCDS6145.1; -. [Q9HAE3-1]
DR RefSeq; NP_001136329.1; NM_001142857.1. [Q9HAE3-2]
DR RefSeq; NP_078869.1; NM_024593.3. [Q9HAE3-1]
DR RefSeq; XP_005251360.1; XM_005251303.1. [Q9HAE3-1]
DR RefSeq; XP_011515891.1; XM_011517589.1. [Q9HAE3-1]
DR AlphaFoldDB; Q9HAE3; -.
DR SMR; Q9HAE3; -.
DR BioGRID; 122773; 8.
DR STRING; 9606.ENSP00000262103; -.
DR iPTMnet; Q9HAE3; -.
DR PhosphoSitePlus; Q9HAE3; -.
DR BioMuta; EFCAB1; -.
DR DMDM; 74761592; -.
DR MassIVE; Q9HAE3; -.
DR PaxDb; Q9HAE3; -.
DR PeptideAtlas; Q9HAE3; -.
DR PRIDE; Q9HAE3; -.
DR ProteomicsDB; 81398; -. [Q9HAE3-1]
DR ProteomicsDB; 81399; -. [Q9HAE3-2]
DR Antibodypedia; 11583; 71 antibodies from 18 providers.
DR DNASU; 79645; -.
DR Ensembl; ENST00000262103.8; ENSP00000262103.3; ENSG00000034239.11. [Q9HAE3-1]
DR Ensembl; ENST00000433756.1; ENSP00000400873.1; ENSG00000034239.11. [Q9HAE3-2]
DR Ensembl; ENST00000523092.5; ENSP00000430765.1; ENSG00000034239.11. [Q9HAE3-2]
DR GeneID; 79645; -.
DR KEGG; hsa:79645; -.
DR MANE-Select; ENST00000262103.8; ENSP00000262103.3; NM_024593.4; NP_078869.1.
DR UCSC; uc003xqo.3; human. [Q9HAE3-1]
DR CTD; 79645; -.
DR GeneCards; EFCAB1; -.
DR HGNC; HGNC:25678; CLXN.
DR HPA; ENSG00000034239; Tissue enhanced (fallopian tube, testis).
DR MIM; 619564; gene.
DR neXtProt; NX_Q9HAE3; -.
DR OpenTargets; ENSG00000034239; -.
DR VEuPathDB; HostDB:ENSG00000034239; -.
DR eggNOG; KOG0044; Eukaryota.
DR GeneTree; ENSGT00940000159968; -.
DR InParanoid; Q9HAE3; -.
DR OMA; FTENIRH; -.
DR PhylomeDB; Q9HAE3; -.
DR TreeFam; TF323358; -.
DR PathwayCommons; Q9HAE3; -.
DR BioGRID-ORCS; 79645; 16 hits in 1055 CRISPR screens.
DR GenomeRNAi; 79645; -.
DR Pharos; Q9HAE3; Tdark.
DR PRO; PR:Q9HAE3; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9HAE3; protein.
DR Bgee; ENSG00000034239; Expressed in right uterine tube and 108 other tissues.
DR ExpressionAtlas; Q9HAE3; baseline and differential.
DR Genevisible; Q9HAE3; HS.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR GO; GO:0036158; P:outer dynein arm assembly; ISS:UniProtKB.
DR GO; GO:0003352; P:regulation of cilium movement; ISS:UniProtKB.
DR GO; GO:1901317; P:regulation of flagellated sperm motility; ISS:UniProtKB.
DR CDD; cd00051; EFh; 2.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR028846; Recoverin.
DR PANTHER; PTHR23055; PTHR23055; 1.
DR Pfam; PF13499; EF-hand_7; 1.
DR SMART; SM00054; EFh; 3.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS00018; EF_HAND_1; 3.
DR PROSITE; PS50222; EF_HAND_2; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Cell projection; Cytoplasm; Cytoskeleton;
KW Metal-binding; Reference proteome; Repeat.
FT CHAIN 1..211
FT /note="Calaxin"
FT /id="PRO_0000251969"
FT DOMAIN 64..99
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 100..135
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 145..180
FT /note="EF-hand 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 77
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 79
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 81
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 83
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 88
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 113
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 115
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 117
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 124
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 158
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 160
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 162
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 164
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 169
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT VAR_SEQ 20
FT /note="F -> L (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041330"
FT VAR_SEQ 21..72
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041331"
FT CONFLICT 13
FT /note="L -> S (in Ref. 2; BAG61576)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 211 AA; 24488 MW; F162ABB162A97479 CRC64;
MNRKKLQKLT DTLTKNCKHF NKFEVNCLIK LFYDLVGGVE RQGLVVGLDR NAFRNILHVT
FGMTDDMIMD RVFRGFDKDN DGCVNVLEWI HGLSLFLRGS LEEKMKYCFE VFDLNGDGFI
SKEEMFHMLK NSLLKQPSEE DPDEGIKDLV EITLKKMDHD HDGKLSFADY ELAVREETLL
LEAFGPCLPD PKSQMEFEAQ VFKDPNEFND M
