CLGN_HUMAN
ID CLGN_HUMAN Reviewed; 610 AA.
AC O14967; B3KS90; B4DXV8; D3DNY8;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 03-AUG-2022, entry version 201.
DE RecName: Full=Calmegin;
DE Flags: Precursor;
GN Name=CLGN;
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] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=9434179; DOI=10.1016/s0378-1119(97)00537-4;
RA Tanaka H., Ikawa M., Tsuchida J., Nozaki M., Suzuki M., Fujiwara T.,
RA Okabe M., Nishimune Y.;
RT "Cloning and characterization of the human Calmegin gene encoding putative
RT testis-specific chaperone.";
RL Gene 204:159-163(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Testis;
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].
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] (ISOFORM 1).
RC TISSUE=Testis;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-560 AND SER-576, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [6]
RP INTERACTION WITH PDILT.
RX PubMed=17507649; DOI=10.1091/mbc.e07-02-0147;
RA van Lith M., Karala A.R., Bown D., Gatehouse J.A., Ruddock L.W.,
RA Saunders P.T.K., Benham A.M.;
RT "A developmentally regulated chaperone complex for the endoplasmic
RT reticulum of male haploid germ cells.";
RL Mol. Biol. Cell 18:2795-2804(2007).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Functions during spermatogenesis as a chaperone for a range
CC of client proteins that are important for sperm adhesion onto the egg
CC zona pellucida and for subsequent penetration of the zona pellucida.
CC Required for normal sperm migration from the uterus into the oviduct.
CC Required for normal male fertility. Binds calcium ions (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with PPIB. Interacts with ADAM2 (By similarity).
CC Interacts with PDILT. {ECO:0000250, ECO:0000269|PubMed:17507649}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type
CC I membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O14967-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O14967-2; Sequence=VSP_055517, VSP_055518;
CC -!- TISSUE SPECIFICITY: Detected in testis (at protein level). Detected in
CC testis. {ECO:0000269|PubMed:9434179}.
CC -!- SIMILARITY: Belongs to the calreticulin family. {ECO:0000305}.
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DR EMBL; D86322; BAA22590.1; -; mRNA.
DR EMBL; AK093096; BAG52652.1; -; mRNA.
DR EMBL; AK302149; BAG63520.1; -; mRNA.
DR EMBL; CH471056; EAX05099.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05100.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05101.1; -; Genomic_DNA.
DR EMBL; BC028357; AAH28357.1; -; mRNA.
DR CCDS; CCDS3751.1; -. [O14967-1]
DR RefSeq; NP_001124147.1; NM_001130675.1. [O14967-1]
DR RefSeq; NP_004353.1; NM_004362.2. [O14967-1]
DR AlphaFoldDB; O14967; -.
DR SMR; O14967; -.
DR BioGRID; 107477; 278.
DR IntAct; O14967; 24.
DR MINT; O14967; -.
DR STRING; 9606.ENSP00000326699; -.
DR ChEMBL; CHEMBL4295653; -.
DR iPTMnet; O14967; -.
DR PhosphoSitePlus; O14967; -.
DR SwissPalm; O14967; -.
DR BioMuta; CLGN; -.
DR EPD; O14967; -.
DR jPOST; O14967; -.
DR MassIVE; O14967; -.
DR MaxQB; O14967; -.
DR PaxDb; O14967; -.
DR PeptideAtlas; O14967; -.
DR PRIDE; O14967; -.
DR ProteomicsDB; 48342; -. [O14967-1]
DR Antibodypedia; 16228; 194 antibodies from 29 providers.
DR DNASU; 1047; -.
DR Ensembl; ENST00000325617.10; ENSP00000326699.5; ENSG00000153132.13. [O14967-1]
DR Ensembl; ENST00000414773.5; ENSP00000392782.1; ENSG00000153132.13. [O14967-1]
DR GeneID; 1047; -.
DR KEGG; hsa:1047; -.
DR MANE-Select; ENST00000325617.10; ENSP00000326699.5; NM_004362.3; NP_004353.1.
DR UCSC; uc003iii.4; human. [O14967-1]
DR CTD; 1047; -.
DR DisGeNET; 1047; -.
DR GeneCards; CLGN; -.
DR HGNC; HGNC:2060; CLGN.
DR HPA; ENSG00000153132; Tissue enhanced (heart muscle, testis).
DR MIM; 601858; gene.
DR neXtProt; NX_O14967; -.
DR OpenTargets; ENSG00000153132; -.
DR PharmGKB; PA26587; -.
DR VEuPathDB; HostDB:ENSG00000153132; -.
DR eggNOG; KOG0675; Eukaryota.
DR GeneTree; ENSGT00950000182915; -.
DR HOGENOM; CLU_018224_2_0_1; -.
DR InParanoid; O14967; -.
DR OMA; RVGCGEW; -.
DR PhylomeDB; O14967; -.
DR TreeFam; TF300618; -.
DR PathwayCommons; O14967; -.
DR SignaLink; O14967; -.
DR BioGRID-ORCS; 1047; 14 hits in 1073 CRISPR screens.
DR ChiTaRS; CLGN; human.
DR GeneWiki; Calmegin; -.
DR GenomeRNAi; 1047; -.
DR Pharos; O14967; Tbio.
DR PRO; PR:O14967; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; O14967; protein.
DR Bgee; ENSG00000153132; Expressed in heart right ventricle and 136 other tissues.
DR ExpressionAtlas; O14967; baseline and differential.
DR Genevisible; O14967; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:HPA.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005509; F:calcium ion binding; IBA:GO_Central.
DR GO; GO:0044183; F:protein folding chaperone; IEA:Ensembl.
DR GO; GO:0051082; F:unfolded protein binding; TAS:ProtInc.
DR GO; GO:0007339; P:binding of sperm to zona pellucida; IEA:Ensembl.
DR GO; GO:0006457; P:protein folding; IBA:GO_Central.
DR GO; GO:0065003; P:protein-containing complex assembly; IEA:Ensembl.
DR GO; GO:0007338; P:single fertilization; TAS:ProtInc.
DR GO; GO:0030433; P:ubiquitin-dependent ERAD pathway; IBA:GO_Central.
DR Gene3D; 2.10.250.10; -; 1.
DR InterPro; IPR001580; Calret/calnex.
DR InterPro; IPR018124; Calret/calnex_CS.
DR InterPro; IPR009033; Calreticulin/calnexin_P_dom_sf.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR PANTHER; PTHR11073; PTHR11073; 1.
DR Pfam; PF00262; Calreticulin; 1.
DR PRINTS; PR00626; CALRETICULIN.
DR SUPFAM; SSF49899; SSF49899; 1.
DR SUPFAM; SSF63887; SSF63887; 1.
DR PROSITE; PS00803; CALRETICULIN_1; 1.
DR PROSITE; PS00804; CALRETICULIN_2; 1.
DR PROSITE; PS00805; CALRETICULIN_REPEAT; 2.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Calcium; Chaperone; Disulfide bond;
KW Endoplasmic reticulum; Membrane; Phosphoprotein; Reference proteome;
KW Repeat; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..610
FT /note="Calmegin"
FT /id="PRO_0000004210"
FT TOPO_DOM 20..471
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 472..492
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 493..610
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REPEAT 267..280
FT /note="1-1"
FT REPEAT 284..297
FT /note="1-2"
FT REPEAT 303..316
FT /note="1-3"
FT REPEAT 322..335
FT /note="1-4"
FT REPEAT 339..352
FT /note="2-1"
FT REPEAT 356..369
FT /note="2-2"
FT REPEAT 370..383
FT /note="2-3"
FT REPEAT 384..397
FT /note="2-4"
FT REGION 258..338
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 317..350
FT /note="Interaction with PPIB"
FT /evidence="ECO:0000250"
FT REGION 521..610
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 261..297
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 521..548
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 549..569
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 577..603
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 128
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:P27824"
FT MOD_RES 560
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983"
FT MOD_RES 576
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983"
FT MOD_RES 579
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P52194"
FT MOD_RES 581
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P52194"
FT MOD_RES 591
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P52194"
FT MOD_RES 594
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P52194"
FT MOD_RES 601
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P27824"
FT DISULFID 151..185
FT /evidence="ECO:0000250"
FT DISULFID 351..355
FT /evidence="ECO:0000250"
FT VAR_SEQ 54..211
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055517"
FT VAR_SEQ 378..424
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055518"
FT VARIANT 160
FT /note="A -> S (in dbSNP:rs2567241)"
FT /id="VAR_024400"
FT VARIANT 290
FT /note="V -> I (in dbSNP:rs2175563)"
FT /id="VAR_033776"
FT VARIANT 352
FT /note="R -> W (in dbSNP:rs12513290)"
FT /id="VAR_048590"
FT CONFLICT 232
FT /note="V -> A (in Ref. 2; BAG63520)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 610 AA; 70039 MW; F024FC4010D42D7E CRC64;
MHFQAFWLCL GLLFISINAE FMDDDVETED FEENSEEIDV NESELSSEIK YKTPQPIGEV
YFAETFDSGR LAGWVLSKAK KDDMDEEISI YDGRWEIEEL KENQVPGDRG LVLKSRAKHH
AISAVLAKPF IFADKPLIVQ YEVNFQDGID CGGAYIKLLA DTDDLILENF YDKTSYIIMF
GPDKCGEDYK LHFIFRHKHP KTGVFEEKHA KPPDVDLKKF FTDRKTHLYT LVMNPDDTFE
VLVDQTVVNK GSLLEDVVPP IKPPKEIEDP NDKKPEEWDE RAKIPDPSAV KPEDWDESEP
AQIEDSSVVK PAGWLDDEPK FIPDPNAEKP DDWNEDTDGE WEAPQILNPA CRIGCGEWKP
PMIDNPKYKG VWRPPLVDNP NYQGIWSPRK IPNPDYFEDD HPFLLTSFSA LGLELWSMTS
DIYFDNFIIC SEKEVADHWA ADGWRWKIMI ANANKPGVLK QLMAAAEGHP WLWLIYLVTA
GVPIALITSF CWPRKVKKKH KDTEYKKTDI CIPQTKGVLE QEEKEEKAAL EKPMDLEEEK
KQNDGEMLEK EEESEPEEKS EEEIEIIEGQ EESNQSNKSG SEDEMKEADE STGSGDGPIK
SVRKRRVRKD
