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Protein

Calcium channel flower homolog

Gene

CACFD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.

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 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:1365. CACFD1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei33 – 5321HelicalSequence AnalysisAdd
BLAST
Transmembranei58 – 7821HelicalSequence AnalysisAdd
BLAST
Transmembranei103 – 12321HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25982.

Polymorphism and mutation databases

BioMutaiCACFD1.
DMDMi61212251.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 172172Calcium channel flower homologPRO_0000089671Add
BLAST

Proteomic databases

MaxQBiQ9UGQ2.
PaxDbiQ9UGQ2.
PRIDEiQ9UGQ2.

PTM databases

PhosphoSiteiQ9UGQ2.

Expressioni

Gene expression databases

BgeeiQ9UGQ2.
CleanExiHS_C9orf7.
ExpressionAtlasiQ9UGQ2. baseline and differential.
GenevisibleiQ9UGQ2. HS.

Organism-specific databases

HPAiHPA015280.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TMEM159Q96B964EBI-8652492,EBI-7055862

Protein-protein interaction databases

BioGridi116275. 1 interaction.
IntActiQ9UGQ2. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9UGQ2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the calcium channel flower family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG318304.
GeneTreeiENSGT00390000000529.
HOGENOMiHOG000231809.
HOVERGENiHBG050956.
InParanoidiQ9UGQ2.
OMAiCGMAVIP.
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. AlignAdd to basket

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

        10         20         30         40         50
MSSSGGAPGA SASSAPPAQE EGMTWWYRWL CRLSGVLGAV SCAISGLFNC
60 70 80 90 100
ITIHPLNIAA GVWMIMNAFI LLLCEAPFCC QFIEFANTVA EKVDRLRSWQ
110 120 130 140 150
KAVFYCGMAV VPIVISLTLT TLLGNAIAFA TGVLYGLSAL GKKGDAISYA
160 170
RIQQQRQQAD EEKLAETLEG EL
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti110 – 1101V → D in BAH12324 (PubMed:14702039).Curated

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. 2 PublicationsVSP_012997Add
BLAST
Alternative sequencei144 – 17229GDAIS…LEGEL → AQTEAGSFAAQHPREPGPFS EGTRQAFATPAVVSGEIRMP AGAMRSPMPGSSSRGSRRMR RSSRRPWRGSCEGLGAPPSL SPLLALCGSK in isoform 3 and isoform 4. 1 PublicationVSP_042522Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
ENST00000540581; ENSP00000440832; ENSG00000160325. [Q9UGQ2-4]
ENST00000542192; ENSP00000444328; ENSG00000160325. [Q9UGQ2-3]
ENST00000625979; ENSP00000486098; ENSG00000280479. [Q9UGQ2-2]
ENST00000627083; ENSP00000486812; ENSG00000280479. [Q9UGQ2-3]
ENST00000629431; ENSP00000486696; ENSG00000280479.
ENST00000630997; ENSP00000485922; ENSG00000280479. [Q9UGQ2-4]
GeneIDi11094.
KEGGihsa:11094.
UCSCiuc004cec.2. human. [Q9UGQ2-2]
uc011mdg.1. human. [Q9UGQ2-1]
uc011mdi.1. human. [Q9UGQ2-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9UGQ2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116275. 1 interaction.
IntActiQ9UGQ2. 1 interaction.

Protein family/group databases

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

PTM databases

PhosphoSiteiQ9UGQ2.

Polymorphism and mutation databases

BioMutaiCACFD1.
DMDMi61212251.

Proteomic databases

MaxQBiQ9UGQ2.
PaxDbiQ9UGQ2.
PRIDEiQ9UGQ2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000291722; ENSP00000291722; ENSG00000160325. [Q9UGQ2-2]
ENST00000316948; ENSP00000317121; ENSG00000160325.
ENST00000540581; ENSP00000440832; ENSG00000160325. [Q9UGQ2-4]
ENST00000542192; ENSP00000444328; ENSG00000160325. [Q9UGQ2-3]
ENST00000625979; ENSP00000486098; ENSG00000280479. [Q9UGQ2-2]
ENST00000627083; ENSP00000486812; ENSG00000280479. [Q9UGQ2-3]
ENST00000629431; ENSP00000486696; ENSG00000280479.
ENST00000630997; ENSP00000485922; ENSG00000280479. [Q9UGQ2-4]
GeneIDi11094.
KEGGihsa:11094.
UCSCiuc004cec.2. human. [Q9UGQ2-2]
uc011mdg.1. human. [Q9UGQ2-1]
uc011mdi.1. human. [Q9UGQ2-3]

Organism-specific databases

CTDi11094.
GeneCardsiGC09P136326.
HGNCiHGNC:1365. CACFD1.
HPAiHPA015280.
MIMi613104. gene.
neXtProtiNX_Q9UGQ2.
PharmGKBiPA25982.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG318304.
GeneTreeiENSGT00390000000529.
HOGENOMiHOG000231809.
HOVERGENiHBG050956.
InParanoidiQ9UGQ2.
OMAiCGMAVIP.
PhylomeDBiQ9UGQ2.
TreeFamiTF105629.

Enzyme and pathway databases

ReactomeiREACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.

Miscellaneous databases

GenomeRNAii11094.
NextBioi42174.
PROiQ9UGQ2.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UGQ2.
CleanExiHS_C9orf7.
ExpressionAtlasiQ9UGQ2. baseline and differential.
GenevisibleiQ9UGQ2. HS.

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]
ProtoNetiSearch...

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 22, 2015
This is version 113 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.