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Q9UGQ2

- FLOWR_HUMAN

UniProt

Q9UGQ2 - FLOWR_HUMAN

Protein

Calcium channel flower homolog

Gene

CACFD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. calcium channel activity Source: InterPro

    GO - Biological processi

    1. synaptic vesicle endocytosis Source: InterPro

    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

    GO - Cellular componenti

    1. integral component of synaptic vesicle membrane Source: InterPro

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25982.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 172172Calcium channel flower homologPRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

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

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the calcium channel flower family.Curated

    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

    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:
    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]
    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 ]
    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

    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: October 1, 2014
    This is version 106 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