FLOWR_HUMAN
ID FLOWR_HUMAN Reviewed; 172 AA.
AC Q9UGQ2; B7Z3T8; B7Z5E1; F5GXX4; Q5SXD4; Q8NBM6;
DT 15-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Calcium channel flower homolog;
DE AltName: Full=Calcium channel flower domain-containing protein 1;
GN Name=CACFD1; Synonyms=C9orf7; ORFNames=PSEC0107, PSEC0248, UNQ3071/PRO9903;
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).
RC TISSUE=Lymphoid tissue;
RA Young J.M., Woodward K.J., Aziz S., Burley M., Kwiatkowski D.J., Povey S.;
RT "Cloning of a sugar transporter gene, a G-beta subunit like gene and three
RT novel genes in human chromosome 9q34.";
RL Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 4), AND
RP VARIANT MET-58.
RC TISSUE=Teratocarcinoma, and Thalamus;
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 [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Teratocarcinoma;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pancreas;
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 -!- INTERACTION:
CC Q9UGQ2; Q9UBD0: HSFX2; NbExp=3; IntAct=EBI-8652492, EBI-947253;
CC Q9UGQ2; Q96B96: LDAF1; NbExp=4; IntAct=EBI-8652492, EBI-7055862;
CC Q9UGQ2; Q96E29: MTERF3; NbExp=3; IntAct=EBI-8652492, EBI-7825321;
CC Q9UGQ2; Q9ULP0-2: NDRG4; NbExp=3; IntAct=EBI-8652492, EBI-11978907;
CC Q9UGQ2; Q9UKF7-2: PITPNC1; NbExp=3; IntAct=EBI-8652492, EBI-14223623;
CC Q9UGQ2; Q96T60: PNKP; NbExp=3; IntAct=EBI-8652492, EBI-1045072;
CC Q9UGQ2; Q8N0V3: RBFA; NbExp=3; IntAct=EBI-8652492, EBI-3232108;
CC Q9UGQ2; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-8652492, EBI-2623095;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9UGQ2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UGQ2-2; Sequence=VSP_012997;
CC Name=3;
CC IsoId=Q9UGQ2-3; Sequence=VSP_012997, VSP_042522;
CC Name=4;
CC IsoId=Q9UGQ2-4; Sequence=VSP_042522;
CC -!- SIMILARITY: Belongs to the calcium channel flower family.
CC {ECO:0000305}.
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DR EMBL; AJ011373; CAB66156.1; -; mRNA.
DR EMBL; AK075548; BAC11691.1; -; mRNA.
DR EMBL; AY358452; AAQ88817.1; -; mRNA.
DR EMBL; AK074852; BAC11245.1; -; mRNA.
DR EMBL; AK075416; BAC11606.1; -; mRNA.
DR EMBL; AK296343; BAH12324.1; -; mRNA.
DR EMBL; AK298820; BAH12877.1; -; mRNA.
DR EMBL; AL593848; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC030558; AAH30558.1; -; mRNA.
DR CCDS; CCDS48051.1; -. [Q9UGQ2-2]
DR CCDS; CCDS56591.1; -. [Q9UGQ2-4]
DR CCDS; CCDS56592.1; -. [Q9UGQ2-3]
DR CCDS; CCDS6974.1; -. [Q9UGQ2-1]
DR RefSeq; NP_001129247.1; NM_001135775.2. [Q9UGQ2-2]
DR RefSeq; NP_001229298.1; NM_001242369.1. [Q9UGQ2-4]
DR RefSeq; NP_001229299.1; NM_001242370.1. [Q9UGQ2-3]
DR RefSeq; NP_060056.1; NM_017586.3. [Q9UGQ2-1]
DR AlphaFoldDB; Q9UGQ2; -.
DR BioGRID; 116275; 19.
DR IntAct; Q9UGQ2; 9.
DR MINT; Q9UGQ2; -.
DR STRING; 9606.ENSP00000440832; -.
DR TCDB; 1.A.55.1.1; the synaptic vesicle-associated ca(2+) channel, flower (flower) family.
DR iPTMnet; Q9UGQ2; -.
DR PhosphoSitePlus; Q9UGQ2; -.
DR BioMuta; CACFD1; -.
DR DMDM; 61212251; -.
DR jPOST; Q9UGQ2; -.
DR MassIVE; Q9UGQ2; -.
DR MaxQB; Q9UGQ2; -.
DR PeptideAtlas; Q9UGQ2; -.
DR PRIDE; Q9UGQ2; -.
DR ProteomicsDB; 84256; -. [Q9UGQ2-1]
DR ProteomicsDB; 84257; -. [Q9UGQ2-2]
DR Antibodypedia; 3031; 93 antibodies from 17 providers.
DR DNASU; 11094; -.
DR Ensembl; ENST00000291722.11; ENSP00000291722.7; ENSG00000160325.15. [Q9UGQ2-2]
DR Ensembl; ENST00000316948.9; ENSP00000317121.4; ENSG00000160325.15. [Q9UGQ2-1]
DR Ensembl; ENST00000540581.5; ENSP00000440832.1; ENSG00000160325.15. [Q9UGQ2-4]
DR Ensembl; ENST00000542192.5; ENSP00000444328.1; ENSG00000160325.15. [Q9UGQ2-3]
DR Ensembl; ENST00000625979.2; ENSP00000486098.1; ENSG00000280479.2. [Q9UGQ2-2]
DR Ensembl; ENST00000627083.2; ENSP00000486812.1; ENSG00000280479.2. [Q9UGQ2-3]
DR Ensembl; ENST00000629431.2; ENSP00000486696.1; ENSG00000280479.2. [Q9UGQ2-1]
DR Ensembl; ENST00000630997.2; ENSP00000485922.1; ENSG00000280479.2. [Q9UGQ2-4]
DR GeneID; 11094; -.
DR KEGG; hsa:11094; -.
DR MANE-Select; ENST00000316948.9; ENSP00000317121.4; NM_017586.5; NP_060056.1.
DR UCSC; uc004cec.3; human. [Q9UGQ2-1]
DR CTD; 11094; -.
DR DisGeNET; 11094; -.
DR GeneCards; CACFD1; -.
DR HGNC; HGNC:1365; CACFD1.
DR HPA; ENSG00000160325; Tissue enhanced (liver).
DR MIM; 613104; gene.
DR neXtProt; NX_Q9UGQ2; -.
DR OpenTargets; ENSG00000160325; -.
DR PharmGKB; PA25982; -.
DR VEuPathDB; HostDB:ENSG00000160325; -.
DR eggNOG; KOG4085; Eukaryota.
DR GeneTree; ENSGT00390000000529; -.
DR HOGENOM; CLU_1197263_0_0_1; -.
DR InParanoid; Q9UGQ2; -.
DR OMA; MIMNAFV; -.
DR OrthoDB; 1295049at2759; -.
DR PhylomeDB; Q9UGQ2; -.
DR TreeFam; TF105629; -.
DR PathwayCommons; Q9UGQ2; -.
DR SignaLink; Q9UGQ2; -.
DR BioGRID-ORCS; 11094; 8 hits in 1066 CRISPR screens.
DR ChiTaRS; CACFD1; human.
DR GenomeRNAi; 11094; -.
DR Pharos; Q9UGQ2; Tdark.
DR PRO; PR:Q9UGQ2; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9UGQ2; protein.
DR Bgee; ENSG00000160325; Expressed in mucosa of transverse colon and 95 other tissues.
DR ExpressionAtlas; Q9UGQ2; baseline and differential.
DR Genevisible; Q9UGQ2; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016192; P:vesicle-mediated transport; IBA:GO_Central.
DR InterPro; IPR019365; TVP18/Ca-channel_flower.
DR PANTHER; PTHR13314; PTHR13314; 1.
DR Pfam; PF10233; Cg6151-P; 1.
DR SMART; SM01077; Cg6151-P; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..172
FT /note="Calcium channel flower homolog"
FT /id="PRO_0000089671"
FT TRANSMEM 33..53
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 58..78
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 103..123
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 65..107
FT /note="IMNAFILLLCEAPFCCQFIEFANTVAEKVDRLRSWQKAVFYCG -> M (in
FT isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:16303743"
FT /id="VSP_012997"
FT VAR_SEQ 144..172
FT /note="GDAISYARIQQQRQQADEEKLAETLEGEL -> AQTEAGSFAAQHPREPGPF
FT SEGTRQAFATPAVVSGEIRMPAGAMRSPMPGSSSRGSRRMRRSSRRPWRGSCEGLGAPP
FT SLSPLLALCGSK (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042522"
FT VARIANT 58
FT /note="I -> M (in dbSNP:rs3124765)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_069103"
FT CONFLICT 110
FT /note="V -> D (in Ref. 3; BAH12324)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 172 AA; 18470 MW; 92085A23BDC48439 CRC64;
MSSSGGAPGA SASSAPPAQE EGMTWWYRWL CRLSGVLGAV SCAISGLFNC ITIHPLNIAA
GVWMIMNAFI LLLCEAPFCC QFIEFANTVA EKVDRLRSWQ KAVFYCGMAV VPIVISLTLT
TLLGNAIAFA TGVLYGLSAL GKKGDAISYA RIQQQRQQAD EEKLAETLEG EL
