CAYP1_HUMAN
ID CAYP1_HUMAN Reviewed; 275 AA.
AC Q13938; A0A0X1KG78; K7EL21; Q3MJA7; Q8NF12; Q8WUZ3;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 12-SEP-2018, sequence version 2.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Calcyphosin;
DE AltName: Full=Calcyphosine;
GN Name=CAPS {ECO:0000303|PubMed:28397838, ECO:0000312|HGNC:HGNC:1487};
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 1).
RC TISSUE=Spleen;
RA Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.;
RT "The nucleotide sequence of a long cDNA clone isolated from human spleen.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(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 3), [LARGE SCALE MRNA] OF
RP 55-275 (ISOFORM 1), AND NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 57-275
RP (ISOFORM 2).
RC TISSUE=Brain, and Skin;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 87-275 (ISOFORM 1).
RC TISSUE=Thyroid;
RX PubMed=9224948; DOI=10.1016/s0167-4781(97)00073-0;
RA el Housni H., Radulescu A., Lecocq R., Dumont J.E., Christophe D.;
RT "Cloning and sequence analysis of human calcyphosine complementary DNA.";
RL Biochim. Biophys. Acta 1352:249-252(1997).
RN [6]
RP X-RAY CRYSTALLOGRAPHY (2.65 ANGSTROMS) IN COMPLEX WITH CALCIUM,
RP CALCIUM-BINDING, AND SUBUNIT.
RX PubMed=18775726; DOI=10.1016/j.jmb.2008.08.048;
RA Dong H., Li X., Lou Z., Xu X., Su D., Zhou X., Zhou W., Bartlam M., Rao Z.;
RT "Crystal-structure and biochemical characterization of recombinant human
RT calcyphosine delineates a novel EF-hand-containing protein family.";
RL J. Mol. Biol. 383:455-464(2008).
RN [7]
RP VARIANT GLN-180.
RX PubMed=28397838; DOI=10.1038/mp.2017.60;
RA Harripaul R., Vasli N., Mikhailov A., Rafiq M.A., Mittal K.,
RA Windpassinger C., Sheikh T.I., Noor A., Mahmood H., Downey S., Johnson M.,
RA Vleuten K., Bell L., Ilyas M., Khan F.S., Khan V., Moradi M., Ayaz M.,
RA Naeem F., Heidari A., Ahmed I., Ghadami S., Agha Z., Zeinali S., Qamar R.,
RA Mozhdehipanah H., John P., Mir A., Ansar M., French L., Ayub M.,
RA Vincent J.B.;
RT "Mapping autosomal recessive intellectual disability: combined microarray
RT and exome sequencing identifies 26 novel candidate genes in 192
RT consanguineous families.";
RL Mol. Psychiatry 23:973-984(2018).
CC -!- FUNCTION: Calcium-binding protein. May play a role in cellular
CC signaling events (Potential). {ECO:0000305}.
CC -!- SUBUNIT: Monomer. Does not form oligomers in the presence of calcium.
CC {ECO:0000269|PubMed:18775726}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q13938-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q13938-3; Sequence=VSP_055154;
CC Name=3;
CC IsoId=Q13938-4; Sequence=VSP_059695;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC14484.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH80599.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC03450.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK090469; BAC03450.1; ALT_INIT; mRNA.
DR EMBL; AC004602; AAC14484.1; ALT_INIT; Genomic_DNA.
DR EMBL; AC104532; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471139; EAW69126.1; -; Genomic_DNA.
DR EMBL; CH471139; EAW69128.1; -; Genomic_DNA.
DR EMBL; BC019065; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC080599; AAH80599.1; ALT_INIT; mRNA.
DR EMBL; BC101513; AAI01514.1; -; mRNA.
DR EMBL; BC104766; AAI04767.1; -; mRNA.
DR EMBL; X97966; CAA66609.1; -; mRNA.
DR CCDS; CCDS12156.2; -. [Q13938-4]
DR RefSeq; NP_004049.2; NM_004058.4. [Q13938-4]
DR RefSeq; NP_542157.2; NM_080590.3.
DR PDB; 3E3R; X-ray; 2.65 A; A/B=87-275.
DR PDBsum; 3E3R; -.
DR AlphaFoldDB; Q13938; -.
DR SMR; Q13938; -.
DR BioGRID; 107278; 49.
DR IntAct; Q13938; 3.
DR MINT; Q13938; -.
DR STRING; 9606.ENSP00000484912; -.
DR DrugBank; DB11093; Calcium citrate.
DR DrugBank; DB11348; Calcium Phosphate.
DR DrugBank; DB14481; Calcium phosphate dihydrate.
DR GlyGen; Q13938; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q13938; -.
DR PhosphoSitePlus; Q13938; -.
DR BioMuta; CAPS; -.
DR DMDM; 2493439; -.
DR CPTAC; CPTAC-179; -.
DR CPTAC; CPTAC-180; -.
DR jPOST; Q13938; -.
DR MassIVE; Q13938; -.
DR MaxQB; Q13938; -.
DR PaxDb; Q13938; -.
DR PeptideAtlas; Q13938; -.
DR PRIDE; Q13938; -.
DR ProteomicsDB; 59760; -. [Q13938-1]
DR Antibodypedia; 24025; 139 antibodies from 23 providers.
DR DNASU; 828; -.
DR Ensembl; ENST00000588776.8; ENSP00000465883.2; ENSG00000105519.18. [Q13938-4]
DR GeneID; 828; -.
DR KEGG; hsa:828; -.
DR MANE-Select; ENST00000588776.8; ENSP00000465883.2; NM_004058.5; NP_004049.3. [Q13938-4]
DR UCSC; uc002mdt.4; human. [Q13938-1]
DR UCSC; uc060seu.1; human.
DR CTD; 828; -.
DR DisGeNET; 828; -.
DR GeneCards; CAPS; -.
DR HGNC; HGNC:1487; CAPS.
DR HPA; ENSG00000105519; Group enriched (brain, fallopian tube).
DR MIM; 114212; gene.
DR neXtProt; NX_Q13938; -.
DR OpenTargets; ENSG00000105519; -.
DR PharmGKB; PA26068; -.
DR VEuPathDB; HostDB:ENSG00000105519; -.
DR eggNOG; KOG0032; Eukaryota.
DR GeneTree; ENSGT00940000162442; -.
DR HOGENOM; CLU_036726_1_0_1; -.
DR InParanoid; Q13938; -.
DR OMA; DAHDKDG; -.
DR OrthoDB; 1377102at2759; -.
DR PhylomeDB; Q13938; -.
DR TreeFam; TF318191; -.
DR PathwayCommons; Q13938; -.
DR SignaLink; Q13938; -.
DR BioGRID-ORCS; 828; 33 hits in 1077 CRISPR screens.
DR ChiTaRS; CAPS; human.
DR EvolutionaryTrace; Q13938; -.
DR GeneWiki; CAPS_(gene); -.
DR GenomeRNAi; 828; -.
DR Pharos; Q13938; Tbio.
DR PRO; PR:Q13938; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q13938; protein.
DR Bgee; ENSG00000105519; Expressed in bronchial epithelial cell and 175 other tissues.
DR ExpressionAtlas; Q13938; baseline and differential.
DR Genevisible; Q13938; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0031982; C:vesicle; HDA:UniProtKB.
DR GO; GO:0005509; F:calcium ion binding; TAS:ProtInc.
DR GO; GO:0035556; P:intracellular signal transduction; TAS:ProtInc.
DR CDD; cd00051; EFh; 1.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR Pfam; PF13499; EF-hand_7; 2.
DR SMART; SM00054; EFh; 4.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS00018; EF_HAND_1; 3.
DR PROSITE; PS50222; EF_HAND_2; 4.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Calcium; Cytoplasm; Metal-binding;
KW Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..275
FT /note="Calcyphosin"
FT /id="PRO_0000073538"
FT DOMAIN 107..142
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 143..178
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 179..214
FT /note="EF-hand 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 222..258
FT /note="EF-hand 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 59..87
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 59..82
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 120
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 122
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 124
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 126
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 131
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 156
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="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 160
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 162
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 167
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 192
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 194
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 196
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 203
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT MOD_RES 126
FT /note="Phosphoserine; by PKA"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..86
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_059695"
FT VAR_SEQ 217..243
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055154"
FT VARIANT 125
FT /note="R -> G (in dbSNP:rs7249419)"
FT /id="VAR_048638"
FT VARIANT 180
FT /note="R -> Q (found in a consanguineous family with
FT intellectual disability; unknown pathological significance;
FT dbSNP:rs375700493)"
FT /evidence="ECO:0000269|PubMed:28397838"
FT /id="VAR_080772"
FT HELIX 88..98
FT /evidence="ECO:0007829|PDB:3E3R"
FT TURN 102..104
FT /evidence="ECO:0007829|PDB:3E3R"
FT HELIX 114..119
FT /evidence="ECO:0007829|PDB:3E3R"
FT STRAND 125..127
FT /evidence="ECO:0007829|PDB:3E3R"
FT HELIX 129..137
FT /evidence="ECO:0007829|PDB:3E3R"
FT TURN 138..140
FT /evidence="ECO:0007829|PDB:3E3R"
FT HELIX 145..155
FT /evidence="ECO:0007829|PDB:3E3R"
FT STRAND 160..163
FT /evidence="ECO:0007829|PDB:3E3R"
FT HELIX 165..171
FT /evidence="ECO:0007829|PDB:3E3R"
FT HELIX 178..191
FT /evidence="ECO:0007829|PDB:3E3R"
FT STRAND 196..199
FT /evidence="ECO:0007829|PDB:3E3R"
FT HELIX 201..207
FT /evidence="ECO:0007829|PDB:3E3R"
FT HELIX 214..217
FT /evidence="ECO:0007829|PDB:3E3R"
FT HELIX 223..234
FT /evidence="ECO:0007829|PDB:3E3R"
FT HELIX 245..258
FT /evidence="ECO:0007829|PDB:3E3R"
FT HELIX 262..273
FT /evidence="ECO:0007829|PDB:3E3R"
SQ SEQUENCE 275 AA; 30240 MW; EF8DF483ED4F7FD9 CRC64;
MQCHRDLALS QALWGWQLSK QSGWAHPSLP HSPLPSTVHS CSWAPPHLQR HLPLATVSPG
TTQLTQGPAG RTLGQTQASC PEPRPSMDAV DATMEKLRAQ CLSRGASGIQ GLARFFRQLD
RDGSRSLDAD EFRQGLAKLG LVLDQAEAEG VCRKWDRNGS GTLDLEEFLR ALRPPMSQAR
EAVIAAAFAK LDRSGDGVVT VDDLRGVYSG RAHPKVRSGE WTEDEVLRRF LDNFDSSEKD
GQVTLAEFQD YYSGVSASMN TDEEFVAMMT SAWQL
