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Q9UGQ2 (FLOWR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Calcium channel flower homolog
Alternative name(s):
Calcium channel flower domain-containing protein 1
Gene names
Name:CACFD1
Synonyms:C9orf7
ORF Names:PSEC0107, PSEC0248, UNQ3071/PRO9903
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length172 AA.
Sequence statusComplete.
Protein existenceEvidence 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 componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processsynaptic vesicle endocytosis

Inferred from electronic annotation. Source: InterPro

   Cellular_componentintegral component of synaptic vesicle membrane

Inferred from electronic annotation. Source: InterPro

   Molecular_functioncalcium 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 172172Calcium channel flower homolog
PRO_0000089671

Regions

Transmembrane33 – 5321Helical; Potential
Transmembrane58 – 7821Helical; Potential
Transmembrane103 – 12321Helical; Potential

Natural variations

Alternative sequence65 – 10743IMNAF…VFYCG → M in isoform 2 and isoform 3.
VSP_012997
Alternative sequence144 – 17229GDAIS…LEGEL → AQTEAGSFAAQHPREPGPFS EGTRQAFATPAVVSGEIRMP AGAMRSPMPGSSSRGSRRMR RSSRRPWRGSCEGLGAPPSL SPLLALCGSK in isoform 3 and isoform 4.
VSP_042522
Natural variant581I → M. Ref.3
Corresponds to variant rs3124765 [ dbSNP | Ensembl ].
VAR_069103

Experimental info

Sequence conflict1101V → D in BAH12324. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 92085A23BDC48439

FASTA17218,470
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 68319E8774E7DD73
Show »

FASTA13013,630
Isoform 3 [UniParc].

Checksum: 030BDAB629DB6DE7
Show »

FASTA19119,763
Isoform 4 [UniParc].

Checksum: 7B45CDAC57C0EAFC
Show »

FASTA23324,604

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_001129247.1. NM_001135775.2.
NP_001229298.1. NM_001242369.1.
NP_001229299.1. NM_001242370.1.
NP_060056.1. NM_017586.3.
UniGeneHs.62003.

3D structure databases

ProteinModelPortalQ9UGQ2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116275. 1 interaction.
IntActQ9UGQ2. 1 interaction.

Protein family/group databases

TCDB1.A.55.1.1. the synaptic vesicle-associated ca(2+) channel, flower (flower) family.

PTM databases

PhosphoSiteQ9UGQ2.

Polymorphism databases

DMDM61212251.

Proteomic databases

PaxDbQ9UGQ2.
PRIDEQ9UGQ2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000291722; ENSP00000291722; ENSG00000160325. [Q9UGQ2-2]
ENST00000316948; ENSP00000317121; ENSG00000160325. [Q9UGQ2-1]
ENST00000540581; ENSP00000440832; ENSG00000160325. [Q9UGQ2-4]
ENST00000542192; ENSP00000444328; ENSG00000160325. [Q9UGQ2-3]
ENST00000568974; ENSP00000456209; ENSG00000260502. [Q9UGQ2-1]
ENST00000570003; ENSP00000456530; ENSG00000260502. [Q9UGQ2-2]
GeneID11094.
KEGGhsa:11094.
UCSCuc004cec.2. human. [Q9UGQ2-2]
uc011mdg.1. human. [Q9UGQ2-1]
uc011mdi.1. human. [Q9UGQ2-3]

Organism-specific databases

CTD11094.
GeneCardsGC09P136326.
HGNCHGNC:1365. CACFD1.
HPAHPA015280.
MIM613104. gene.
neXtProtNX_Q9UGQ2.
PharmGKBPA25982.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG318304.
HOGENOMHOG000231809.
HOVERGENHBG050956.
InParanoidQ9UGQ2.
OMAGEIRMPA.
PhylomeDBQ9UGQ2.
TreeFamTF105629.

Gene expression databases

ArrayExpressQ9UGQ2.
BgeeQ9UGQ2.
CleanExHS_C9orf7.
GenevestigatorQ9UGQ2.

Family and domain databases

InterProIPR024947. Ca-channel_flower.
IPR019365. TVP18/Ca-channel_flower.
[Graphical view]
PANTHERPTHR13314. PTHR13314. 1 hit.
PfamPF10233. Cg6151-P. 1 hit.
[Graphical view]
SMARTSM01077. Cg6151-P. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi11094.
NextBio42174.
PROQ9UGQ2.
SOURCESearch...

Entry information

Entry nameFLOWR_HUMAN
AccessionPrimary (citable) accession number: Q9UGQ2
Secondary accession number(s): B7Z3T8 expand/collapse secondary AC list , B7Z5E1, F5GXX4, Q5SXD4, Q8NBM6
Entry history
Integrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM