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Q9UGQ2

- FLOWR_HUMAN

UniProt

Q9UGQ2 - FLOWR_HUMAN

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Protein
Calcium channel flower homolog
Gene
CACFD1, C9orf7, PSEC0107, PSEC0248, UNQ3071/PRO9903
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. calcium channel activity Source: InterPro

GO - Biological processi

  1. synaptic vesicle endocytosis Source: InterPro
Complete GO annotation...

Protein family/group databases

TCDBi1.A.55.1.1. the synaptic vesicle-associated ca(2+) channel, flower (flower) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Calcium channel flower homolog
Alternative name(s):
Calcium channel flower domain-containing protein 1
Gene namesi
Name:CACFD1
Synonyms:C9orf7
ORF Names:PSEC0107, PSEC0248, UNQ3071/PRO9903
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:1365. CACFD1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei33 – 5321Helical; Reviewed prediction
Add
BLAST
Transmembranei58 – 7821Helical; Reviewed prediction
Add
BLAST
Transmembranei103 – 12321Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of synaptic vesicle membrane Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25982.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 172172Calcium channel flower homolog
PRO_0000089671Add
BLAST

Proteomic databases

PaxDbiQ9UGQ2.
PRIDEiQ9UGQ2.

PTM databases

PhosphoSiteiQ9UGQ2.

Expressioni

Gene expression databases

ArrayExpressiQ9UGQ2.
BgeeiQ9UGQ2.
CleanExiHS_C9orf7.
GenevestigatoriQ9UGQ2.

Organism-specific databases

HPAiHPA015280.

Interactioni

Protein-protein interaction databases

BioGridi116275. 1 interaction.
IntActiQ9UGQ2. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9UGQ2.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG318304.
HOGENOMiHOG000231809.
HOVERGENiHBG050956.
InParanoidiQ9UGQ2.
OMAiGEIRMPA.
PhylomeDBiQ9UGQ2.
TreeFamiTF105629.

Family and domain databases

InterProiIPR024947. Ca-channel_flower.
IPR019365. TVP18/Ca-channel_flower.
[Graphical view]
PANTHERiPTHR13314. PTHR13314. 1 hit.
PfamiPF10233. Cg6151-P. 1 hit.
[Graphical view]
SMARTiSM01077. Cg6151-P. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UGQ2-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MSSSGGAPGA SASSAPPAQE EGMTWWYRWL CRLSGVLGAV SCAISGLFNC    50
ITIHPLNIAA GVWMIMNAFI LLLCEAPFCC QFIEFANTVA EKVDRLRSWQ 100
KAVFYCGMAV VPIVISLTLT TLLGNAIAFA TGVLYGLSAL GKKGDAISYA 150
RIQQQRQQAD EEKLAETLEG EL 172
Length:172
Mass (Da):18,470
Last modified:May 1, 2000 - v1
Checksum:i92085A23BDC48439
GO
Isoform 2 (identifier: Q9UGQ2-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:130
Mass (Da):13,630
Checksum:i68319E8774E7DD73
GO
Isoform 3 (identifier: Q9UGQ2-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:191
Mass (Da):19,763
Checksum:i030BDAB629DB6DE7
GO
Isoform 4 (identifier: Q9UGQ2-4) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:233
Mass (Da):24,604
Checksum:i7B45CDAC57C0EAFC
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti58 – 581I → M.1 Publication
Corresponds to variant rs3124765 [ dbSNP | Ensembl ].
VAR_069103

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei65 – 10743IMNAF…VFYCG → M in isoform 2 and isoform 3.
VSP_012997Add
BLAST
Alternative sequencei144 – 17229GDAIS…LEGEL → AQTEAGSFAAQHPREPGPFS EGTRQAFATPAVVSGEIRMP AGAMRSPMPGSSSRGSRRMR RSSRRPWRGSCEGLGAPPSL SPLLALCGSK in isoform 3 and isoform 4.
VSP_042522Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti110 – 1101V → D in BAH12324. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS48051.1. [Q9UGQ2-2]
CCDS56591.1. [Q9UGQ2-4]
CCDS56592.1. [Q9UGQ2-3]
CCDS6974.1. [Q9UGQ2-1]
RefSeqiNP_001129247.1. NM_001135775.2. [Q9UGQ2-2]
NP_001229298.1. NM_001242369.1. [Q9UGQ2-4]
NP_001229299.1. NM_001242370.1. [Q9UGQ2-3]
NP_060056.1. NM_017586.3. [Q9UGQ2-1]
UniGeneiHs.62003.

Genome annotation databases

EnsembliENST00000291722; 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]
GeneIDi11094.
KEGGihsa:11094.
UCSCiuc004cec.2. human. [Q9UGQ2-2]
uc011mdg.1. human. [Q9UGQ2-1]
uc011mdi.1. human. [Q9UGQ2-3]

Polymorphism databases

DMDMi61212251.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS48051.1. [Q9UGQ2-2 ]
CCDS56591.1. [Q9UGQ2-4 ]
CCDS56592.1. [Q9UGQ2-3 ]
CCDS6974.1. [Q9UGQ2-1 ]
RefSeqi NP_001129247.1. NM_001135775.2. [Q9UGQ2-2 ]
NP_001229298.1. NM_001242369.1. [Q9UGQ2-4 ]
NP_001229299.1. NM_001242370.1. [Q9UGQ2-3 ]
NP_060056.1. NM_017586.3. [Q9UGQ2-1 ]
UniGenei Hs.62003.

3D structure databases

ProteinModelPortali Q9UGQ2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116275. 1 interaction.
IntActi Q9UGQ2. 1 interaction.

Protein family/group databases

TCDBi 1.A.55.1.1. the synaptic vesicle-associated ca(2+) channel, flower (flower) family.

PTM databases

PhosphoSitei Q9UGQ2.

Polymorphism databases

DMDMi 61212251.

Proteomic databases

PaxDbi Q9UGQ2.
PRIDEi Q9UGQ2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000291722 ; 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 ]
GeneIDi 11094.
KEGGi hsa:11094.
UCSCi uc004cec.2. human. [Q9UGQ2-2 ]
uc011mdg.1. human. [Q9UGQ2-1 ]
uc011mdi.1. human. [Q9UGQ2-3 ]

Organism-specific databases

CTDi 11094.
GeneCardsi GC09P136326.
HGNCi HGNC:1365. CACFD1.
HPAi HPA015280.
MIMi 613104. gene.
neXtProti NX_Q9UGQ2.
PharmGKBi PA25982.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG318304.
HOGENOMi HOG000231809.
HOVERGENi HBG050956.
InParanoidi Q9UGQ2.
OMAi GEIRMPA.
PhylomeDBi Q9UGQ2.
TreeFami TF105629.

Miscellaneous databases

GenomeRNAii 11094.
NextBioi 42174.
PROi Q9UGQ2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UGQ2.
Bgeei Q9UGQ2.
CleanExi HS_C9orf7.
Genevestigatori Q9UGQ2.

Family and domain databases

InterProi IPR024947. Ca-channel_flower.
IPR019365. TVP18/Ca-channel_flower.
[Graphical view ]
PANTHERi PTHR13314. PTHR13314. 1 hit.
Pfami PF10233. Cg6151-P. 1 hit.
[Graphical view ]
SMARTi SM01077. Cg6151-P. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiFLOWR_HUMAN
AccessioniPrimary (citable) accession number: Q9UGQ2
Secondary accession number(s): B7Z3T8
, B7Z5E1, F5GXX4, Q5SXD4, Q8NBM6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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