Q9UGQ2 (FLOWR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Calcium channel flower homolog

Alternative name(s):
Calcium channel flower domain-containing protein 1

Gene names

Name:	CACFD1
ORF Names:	C9orf7, PSEC0107, PSEC0248, UNQ3071/PRO9903

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	172 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the calcium channel flower family.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	calcium ion transmembrane transport Inferred from electronic annotation. Source: GOC synaptic vesicle endocytosis Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to synaptic vesicle membrane Inferred from electronic annotation. Source: InterPro
Molecular_function	calcium channel activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UGQ2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9UGQ2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     65-107: IMNAFILLLCEAPFCCQFIEFANTVAEKVDRLRSWQKAVFYCG → M

Isoform 3 (identifier: Q9UGQ2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     65-107: IMNAFILLLCEAPFCCQFIEFANTVAEKVDRLRSWQKAVFYCG → M
     144-172: GDAISYARIQQQRQQADEEKLAETLEGEL → AQTEAGSFAA...SPLLALCGSK

Note: No experimental confirmation available.

Isoform 4 (identifier: Q9UGQ2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     144-172: GDAISYARIQQQRQQADEEKLAETLEGEL → AQTEAGSFAA...SPLLALCGSK

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 172	172	Calcium channel flower homolog		PRO_0000089671
Regions
	Transmembrane	33 – 53	21	Helical; Potential
	Transmembrane	58 – 78	21	Helical; Potential
	Transmembrane	103 – 123	21	Helical; Potential
Natural variations
	Alternative sequence	65 – 107	43	IMNAF…VFYCG → M in isoform 2 and isoform 3.		VSP_012997
	Alternative sequence	144 – 172	29	GDAIS…LEGEL → AQTEAGSFAAQHPREPGPFS EGTRQAFATPAVVSGEIRMP AGAMRSPMPGSSSRGSRRMR RSSRRPWRGSCEGLGAPPSL SPLLALCGSK in isoform 3 and isoform 4.		VSP_042522
	Natural variant	58	1	I → M. Ref.3 Corresponds to variant rs3124765 [ dbSNP | Ensembl ].		VAR_069103
Experimental info
	Sequence conflict	110	1	V → D in BAH12324. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 92085A23BDC48439	FASTA	172	18,470
	10 20 30 40 50 60 MSSSGGAPGA SASSAPPAQE EGMTWWYRWL CRLSGVLGAV SCAISGLFNC ITIHPLNIAA 70 80 90 100 110 120 GVWMIMNAFI LLLCEAPFCC QFIEFANTVA EKVDRLRSWQ KAVFYCGMAV VPIVISLTLT 130 140 150 160 170 TLLGNAIAFA TGVLYGLSAL GKKGDAISYA RIQQQRQQAD EEKLAETLEG EL
	Isoform 2 [UniParc]. Checksum: 68319E8774E7DD73	FASTA	130	13,630
	10 20 30 40 50 60 MSSSGGAPGA SASSAPPAQE EGMTWWYRWL CRLSGVLGAV SCAISGLFNC ITIHPLNIAA 70 80 90 100 110 120 GVWMMMAVVP IVISLTLTTL LGNAIAFATG VLYGLSALGK KGDAISYARI QQQRQQADEE 130 KLAETLEGEL
	Isoform 3 [UniParc]. Checksum: 030BDAB629DB6DE7	FASTA	191	19,763
	10 20 30 40 50 60 MSSSGGAPGA SASSAPPAQE EGMTWWYRWL CRLSGVLGAV SCAISGLFNC ITIHPLNIAA 70 80 90 100 110 120 GVWMMMAVVP IVISLTLTTL LGNAIAFATG VLYGLSALGK KAQTEAGSFA AQHPREPGPF 130 140 150 160 170 180 SEGTRQAFAT PAVVSGEIRM PAGAMRSPMP GSSSRGSRRM RRSSRRPWRG SCEGLGAPPS 190 LSPLLALCGS K
	Isoform 4 [UniParc]. Checksum: 7B45CDAC57C0EAFC	FASTA	233	24,604
	10 20 30 40 50 60 MSSSGGAPGA SASSAPPAQE EGMTWWYRWL CRLSGVLGAV SCAISGLFNC ITIHPLNIAA 70 80 90 100 110 120 GVWMIMNAFI LLLCEAPFCC QFIEFANTVA EKVDRLRSWQ KAVFYCGMAV VPIVISLTLT 130 140 150 160 170 180 TLLGNAIAFA TGVLYGLSAL GKKAQTEAGS FAAQHPREPG PFSEGTRQAF ATPAVVSGEI 190 200 210 220 230 RMPAGAMRSP MPGSSSRGSR RMRRSSRRPW RGSCEGLGAP PSLSPLLALC GSK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of a sugar transporter gene, a G-beta subunit like gene and three novel genes in human chromosome 9q34." Young J.M., Woodward K.J., Aziz S., Burley M., Kwiatkowski D.J., Povey S. Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Lymphoid tissue.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 4), VARIANT MET-58. Tissue: Teratocarcinoma and Thalamus.
[4]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Teratocarcinoma.
[5]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Pancreas.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ011373 mRNA. Translation: CAB66156.1. AK075548 mRNA. Translation: BAC11691.1. AY358452 mRNA. Translation: AAQ88817.1. AK074852 mRNA. Translation: BAC11245.1. AK075416 mRNA. Translation: BAC11606.1. AK296343 mRNA. Translation: BAH12324.1. AK298820 mRNA. Translation: BAH12877.1. AL593848 Genomic DNA. No translation available. BC030558 mRNA. Translation: AAH30558.1.
IPI	IPI00014279. IPI00168285. IPI00922209. IPI00922836.
RefSeq	NP_001129247.1. NM_001135775.2. NP_001229298.1. NM_001242369.1. NP_001229299.1. NM_001242370.1. NP_060056.1. NM_017586.3.
UniGene	Hs.62003.
3D structure databases
ProteinModelPortal	Q9UGQ2.
ModBase	Search...
Protein family/group databases
TCDB	1.A.55.1.1. synaptic vesicle-associated Ca2+ channel, flower (Flower or Cg6151-p) family.
PTM databases
PhosphoSite	Q9UGQ2.
Polymorphism databases
DMDM	61212251.
Proteomic databases
PaxDb	Q9UGQ2.
PRIDE	Q9UGQ2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000291722; ENSP00000291722; ENSG00000160325. ENST00000316948; ENSP00000317121; ENSG00000160325. ENST00000540581; ENSP00000440832; ENSG00000160325. ENST00000542192; ENSP00000444328; ENSG00000160325. ENST00000568974; ENSP00000456209; ENSG00000260502. ENST00000570003; ENSP00000456530; ENSG00000260502.
GeneID	11094.
KEGG	hsa:11094.
UCSC	uc004cec.2. human. uc011mdg.1. human.
Organism-specific databases
CTD	11094.
GeneCards	GC09P136326.
HGNC	HGNC:1365. CACFD1.
HPA	HPA015280.
MIM	613104. gene.
neXtProt	NX_Q9UGQ2.
PharmGKB	PA25982.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG318304.
HOGENOM	HOG000231809.
HOVERGEN	HBG050956.
InParanoid	Q9UGQ2.
OrthoDB	EOG4255V0.
PhylomeDB	Q9UGQ2.
Gene expression databases
ArrayExpress	Q9UGQ2.
Bgee	Q9UGQ2.
CleanEx	HS_C9orf7.
Genevestigator	Q9UGQ2.
GermOnline	ENSG00000160325. Homo sapiens.
Family and domain databases
InterPro	IPR024947. Ca-channel_flower. IPR019365. TVP18/Ca-channel_flower. [Graphical view]
PANTHER	PTHR13314. PTHR13314. 1 hit.
Pfam	PF10233. Cg6151-P. 1 hit. [Graphical view]
SMART	SM01077. Cg6151-P. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	11094.
NextBio	42174.
SOURCE	Search...

Entry information

Entry name

FLOWR_HUMAN

Accession

Primary (citable) accession number: Q9UGQ2
Secondary accession number(s): B7Z3T8 , B7Z5E1, F5GXX4, Q5SXD4, Q8NBM6

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 15, 2005
Last sequence update:	May 1, 2000
Last modified:	April 3, 2013
This is version 92 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.