CAHD1_HUMAN
ID CAHD1_HUMAN Reviewed; 1274 AA.
AC Q5VU97; Q49AE9; Q658T4; Q7Z3P2; Q9H7W4; Q9H9W3; Q9HCJ9;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-SEP-2007, sequence version 2.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=VWFA and cache domain-containing protein 1;
DE Short=Cache domain-containing protein 1;
DE Flags: Precursor;
GN Name=CACHD1; Synonyms=KIAA1573, VWCD1;
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), AND VARIANT THR-414.
RC TISSUE=Fetal kidney, and 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT THR-414.
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 90-1274 (ISOFORM 1), AND VARIANT
RP THR-414.
RC TISSUE=Brain;
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 542-1274.
RC TISSUE=Teratocarcinoma;
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).
CC -!- FUNCTION: May regulate voltage-dependent calcium channels.
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5VU97-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VU97-2; Sequence=VSP_028072;
CC -!- SIMILARITY: Belongs to the calcium channel subunit alpha-2/delta
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB14105.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB14860.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL833000; CAH56312.1; -; mRNA.
DR EMBL; BX537603; CAD97793.1; -; mRNA.
DR EMBL; AC099678; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL355515; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL590405; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC039301; AAH39301.1; -; mRNA.
DR EMBL; AB046793; BAB13399.1; -; mRNA.
DR EMBL; AK022571; BAB14105.1; ALT_INIT; mRNA.
DR EMBL; AK024256; BAB14860.1; ALT_INIT; mRNA.
DR CCDS; CCDS628.2; -. [Q5VU97-1]
DR RefSeq; NP_001280203.1; NM_001293274.1. [Q5VU97-2]
DR RefSeq; NP_065976.2; NM_020925.2. [Q5VU97-1]
DR AlphaFoldDB; Q5VU97; -.
DR SMR; Q5VU97; -.
DR BioGRID; 121712; 56.
DR IntAct; Q5VU97; 18.
DR MINT; Q5VU97; -.
DR STRING; 9606.ENSP00000290039; -.
DR TCDB; 8.A.18.2.2; the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family.
DR GlyConnect; 1901; 2 N-Linked glycans (1 site).
DR GlyGen; Q5VU97; 3 sites, 2 N-linked glycans (1 site).
DR iPTMnet; Q5VU97; -.
DR PhosphoSitePlus; Q5VU97; -.
DR BioMuta; CACHD1; -.
DR DMDM; 158563905; -.
DR EPD; Q5VU97; -.
DR jPOST; Q5VU97; -.
DR MassIVE; Q5VU97; -.
DR MaxQB; Q5VU97; -.
DR PaxDb; Q5VU97; -.
DR PeptideAtlas; Q5VU97; -.
DR PRIDE; Q5VU97; -.
DR ProteomicsDB; 65401; -. [Q5VU97-1]
DR ProteomicsDB; 65402; -. [Q5VU97-2]
DR Antibodypedia; 2535; 37 antibodies from 14 providers.
DR DNASU; 57685; -.
DR Ensembl; ENST00000651257.2; ENSP00000498498.1; ENSG00000158966.16. [Q5VU97-1]
DR GeneID; 57685; -.
DR KEGG; hsa:57685; -.
DR MANE-Select; ENST00000651257.2; ENSP00000498498.1; NM_020925.4; NP_065976.3.
DR CTD; 57685; -.
DR DisGeNET; 57685; -.
DR GeneCards; CACHD1; -.
DR HGNC; HGNC:29314; CACHD1.
DR HPA; ENSG00000158966; Low tissue specificity.
DR neXtProt; NX_Q5VU97; -.
DR OpenTargets; ENSG00000158966; -.
DR PharmGKB; PA142672211; -.
DR VEuPathDB; HostDB:ENSG00000158966; -.
DR eggNOG; KOG2353; Eukaryota.
DR GeneTree; ENSGT00940000157568; -.
DR InParanoid; Q5VU97; -.
DR OMA; KSFVHEM; -.
DR OrthoDB; 260352at2759; -.
DR PhylomeDB; Q5VU97; -.
DR TreeFam; TF315824; -.
DR PathwayCommons; Q5VU97; -.
DR SignaLink; Q5VU97; -.
DR BioGRID-ORCS; 57685; 8 hits in 1071 CRISPR screens.
DR ChiTaRS; CACHD1; human.
DR GenomeRNAi; 57685; -.
DR Pharos; Q5VU97; Tdark.
DR PRO; PR:Q5VU97; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5VU97; protein.
DR Bgee; ENSG00000158966; Expressed in oviduct epithelium and 178 other tissues.
DR ExpressionAtlas; Q5VU97; baseline and differential.
DR GO; GO:0005891; C:voltage-gated calcium channel complex; IBA:GO_Central.
DR GO; GO:0005245; F:voltage-gated calcium channel activity; IBA:GO_Central.
DR Gene3D; 3.40.50.410; -; 1.
DR InterPro; IPR029151; Sensor-like_sf.
DR InterPro; IPR013608; VWA_N.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR Pfam; PF00092; VWA; 1.
DR Pfam; PF08399; VWA_N; 1.
DR SUPFAM; SSF103190; SSF103190; 1.
DR SUPFAM; SSF53300; SSF53300; 1.
DR PROSITE; PS50234; VWFA; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Calcium transport; Glycoprotein;
KW Ion transport; Membrane; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix; Transport.
FT SIGNAL 1..35
FT /evidence="ECO:0000255"
FT CHAIN 36..1274
FT /note="VWFA and cache domain-containing protein 1"
FT /id="PRO_0000304661"
FT TOPO_DOM 36..1095
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1096..1116
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1117..1274
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 228..443
FT /note="VWFA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT DOMAIN 453..532
FT /note="Cache 1"
FT DOMAIN 772..853
FT /note="Cache 2"
FT REGION 1179..1227
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1192..1213
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 145
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..296
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_028072"
FT VARIANT 414
FT /note="M -> T (in dbSNP:rs6588100)"
FT /evidence="ECO:0000269|PubMed:10997877,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_035052"
FT CONFLICT 1000
FT /note="Q -> L (in Ref. 1; CAD97793)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1274 AA; 142290 MW; C20F8657C456A755 CRC64;
MARQPEEEET AVARARRPPL WLLCLVACWL LGAGAEADFS ILDEAQVLAS QMRRLAAEEL
GVVTMQRIFN SFVYTEKISN GESEVQQLAK KIREKFNRYL DVVNRNKQVV EASYTAHLTS
PLTAIQDCCT IPPSMMEFDG NFNTNVSRTI SCDRLSTTVN SRAFNPGRDL NSVLADNLKS
NPGIKWQYFS SEEGIFTVFP AHKFRCKGSY EHRSRPIYVS TVRPQSKHIV VILDHGASVT
DTQLQIAKDA AQVILSAIDE HDKISVLTVA DTVRTCSLDQ CYKTFLSPAT SETKRKMSTF
VSSVKSSDSP TQHAVGFQKA FQLIRSTNNN TKFQANTDMV IIYLSAGITS KDSSEEDKKA
TLQVINEENS FLNNSVMILT YALMNDGVTG LKELAFLRDL AEQNSGKYGV PDRMALPVIK
GSMMVLNQLS NLETTVGRFY TNLPNRMIDE AVFSLPFSDE MGDGLIMTVS KPCYFGNLLL
GIVGVDVNLA YILEDVTYYQ DSLASYTFLI DDKGYTLMHP SLTRPYLLSE PPLHTDIIHY
ENIPKFELVR QNILSLPLGS QIIAVPVNSS LSWHINKLRE TGKEAYNVSY AWKMVQDTSF
ILCIVVIQPE IPVKQLKNLN TVPSSKLLYH RLDLLGQPSA CLHFKQLATL ESPTIMLSAG
SFSSPYEHLS QPETKRMVEH YTAYLSDNTR LIANPGLKFS VRNEVMATSH VTDEWMTQME
MSSLNTYIVR RYIATPNGVL RIYPGSLMDK AFDPTRRQWY LHAVANPGLI SLTGPYLDVG
GAGYVVTISH TIHSSSTQLS SGHTVAVMGI DFTLRYFYKV LMDLLPVCNQ DGGNKIRCFI
MEDRGYLVAH PTLIDPKGHA PVEQQHITHK EPLVANDILN HPNFVKKNLC NSFSDRTVQR
FYKFNTSLAG DLTNLVHGSH CSKYRLARIP GTNAFVGIVN ETCDSLAFCA CSMVDRLCLN
CHRMEQNECE CPCECPLEVN ECTGNLTNAE NRNPSCEVHQ EPVTYTAIDP GLQDALHQCV
NSRCSQRLES GDCFGVLDCE WCMVDSDGKT HLDKPYCAPQ KECFGGIVGA KSPYVDDMGA
IGDEVITLNM IKSAPVGPVA GGIMGCIMVL VLAVYAYRHQ IHRRSHQHMS PLAAQEMSVR
MSNLENDRDE RDDDSHEDRG IISNTRFIAA VIERHAHSPE RRRRYWGRSG TESDHGYSTM
SPQEDSENPP CNNDPLSAGV DVGNHDEDLD LDTPPQTAAL LSHKFHHYRS HHPTLHHSHH
LQAAVTVHTV DAEC
