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Q9UPI3

- FLVC2_HUMAN

UniProt

Q9UPI3 - FLVC2_HUMAN

Protein

Feline leukemia virus subgroup C receptor-related protein 2

Gene

FLVCR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism.1 Publication

    GO - Molecular functioni

    1. heme binding Source: UniProtKB
    2. heme transporter activity Source: UniProtKB

    GO - Biological processi

    1. heme transport Source: GOC
    2. transmembrane transport Source: InterPro

    Keywords - Biological processi

    Transport

    Protein family/group databases

    TCDBi2.A.1.28.4. the major facilitator superfamily (mfs).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Feline leukemia virus subgroup C receptor-related protein 2
    Alternative name(s):
    Calcium-chelate transporter
    Short name:
    CCT
    Gene namesi
    Name:FLVCR2
    Synonyms:C14orf58
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20105. FLVCR2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]: A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti84 – 841R → H in PVHH. 1 Publication
    VAR_064410
    Natural varianti110 – 1123NIF → I in PVHH.
    VAR_064411
    Natural varianti280 – 2801P → R in PVHH. 1 Publication
    VAR_064043
    Natural varianti326 – 3261A → V in PVHH. 1 Publication
    VAR_064412
    Natural varianti352 – 3521T → R in PVHH. 1 Publication
    VAR_064413
    Natural varianti398 – 3981L → V in PVHH. 3 Publications
    VAR_064044
    Natural varianti412 – 4121G → R in PVHH. 1 Publication
    VAR_064414
    Natural varianti430 – 4301T → M in PVHH. 1 Publication
    VAR_064415
    Natural varianti430 – 4301T → R in PVHH. 1 Publication
    VAR_064045

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi225790. phenotype.
    Orphaneti221126. Fowler syndrome.
    PharmGKBiPA162388720.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 526526Feline leukemia virus subgroup C receptor-related protein 2PRO_0000084846Add
    BLAST

    Proteomic databases

    MaxQBiQ9UPI3.
    PaxDbiQ9UPI3.
    PRIDEiQ9UPI3.

    PTM databases

    PhosphoSiteiQ9UPI3.

    Expressioni

    Tissue specificityi

    Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung, liver and kidney. Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and bone marrow). Found in acidophil cells of the pituitary that secrete growth hormone and prolactin.

    Gene expression databases

    ArrayExpressiQ9UPI3.
    BgeeiQ9UPI3.
    CleanExiHS_FLVCR2.
    GenevestigatoriQ9UPI3.

    Organism-specific databases

    HPAiHPA037984.

    Interactioni

    Protein-protein interaction databases

    MINTiMINT-4724942.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UPI3.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei103 – 12321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei125 – 14521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei152 – 17221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei176 – 19621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei217 – 23721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei252 – 27221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei310 – 33021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei349 – 36921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei386 – 40621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei407 – 42721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei436 – 45621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei471 – 49121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati25 – 3061
    Repeati31 – 3662
    Repeati37 – 4263
    Repeati43 – 4864
    Repeati49 – 5465
    Repeati55 – 6066; approximate
    Repeati61 – 6667; approximate
    Repeati67 – 7268

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni25 – 72488 X 6 AA tandem repeats of P-S-[VS]-S-[VIAG]-[HNP]Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi507 – 5115Poly-Glu

    Sequence similaritiesi

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG297699.
    HOGENOMiHOG000019717.
    HOVERGENiHBG051631.
    InParanoidiQ9UPI3.
    KOiK08220.
    OMAiQPHLFPV.
    OrthoDBiEOG7KQ21D.
    PhylomeDBiQ9UPI3.
    TreeFamiTF314292.

    Family and domain databases

    InterProiIPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view]
    PfamiPF07690. MFS_1. 1 hit.
    [Graphical view]
    SUPFAMiSSF103473. SSF103473. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UPI3-1) [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

    MVNEGPNQEE SDDTPVPESA LQADPSVSVH PSVSVHPSVS INPSVSVHPS    50
    SSAHPSALAQ PSGLAHPSSS GPEDLSVIKV SRRRWAVVLV FSCYSMCNSF 100
    QWIQYGSINN IFMHFYGVSA FAIDWLSMCY MLTYIPLLLP VAWLLEKFGL 150
    RTIALTGSAL NCLGAWVKLG SLKPHLFPVT VVGQLICSVA QVFILGMPSR 200
    IASVWFGANE VSTACSVAVF GNQLGIAIGF LVPPVLVPNI EDRDELAYHI 250
    SIMFYIIGGV ATLLLILVII VFKEKPKYPP SRAQSLSYAL TSPDASYLGS 300
    IARLFKNLNF VLLVITYGLN AGAFYALSTL LNRMVIWHYP GEEVNAGRIG 350
    LTIVIAGMLG AVISGIWLDR SKTYKETTLV VYIMTLVGMV VYTFTLNLGH 400
    LWVVFITAGT MGFFMTGYLP LGFEFAVELT YPESEGISSG LLNISAQVFG 450
    IIFTISQGQI IDNYGTKPGN IFLCVFLTLG AALTAFIKAD LRRQKANKET 500
    LENKLQEEEE ESNTSKVPTA VSEDHL 526
    Length:526
    Mass (Da):57,241
    Last modified:May 1, 2000 - v1
    Checksum:iD233C07350B17870
    GO
    Isoform 2 (identifier: Q9UPI3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-18: MVNEGPNQEESDDTPVPE → MSADNSSTICVCRSVRQE
         19-223: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:321
    Mass (Da):35,262
    Checksum:iDC129F2BDAFF1DA3
    GO

    Sequence cautioni

    The sequence BAB55381.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti419 – 4191L → H in BAB55381. (PubMed:14702039)Curated
    Sequence conflicti439 – 4391S → F in BAA91126. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161V → A.1 Publication
    Corresponds to variant rs2287015 [ dbSNP | Ensembl ].
    VAR_018271
    Natural varianti84 – 841R → H in PVHH. 1 Publication
    VAR_064410
    Natural varianti110 – 1123NIF → I in PVHH.
    VAR_064411
    Natural varianti280 – 2801P → R in PVHH. 1 Publication
    VAR_064043
    Natural varianti326 – 3261A → V in PVHH. 1 Publication
    VAR_064412
    Natural varianti352 – 3521T → R in PVHH. 1 Publication
    VAR_064413
    Natural varianti398 – 3981L → V in PVHH. 3 Publications
    VAR_064044
    Natural varianti412 – 4121G → R in PVHH. 1 Publication
    VAR_064414
    Natural varianti430 – 4301T → M in PVHH. 1 Publication
    VAR_064415
    Natural varianti430 – 4301T → R in PVHH. 1 Publication
    VAR_064045
    Natural varianti481 – 4811A → T.
    Corresponds to variant rs35126362 [ dbSNP | Ensembl ].
    VAR_050299

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1818MVNEG…TPVPE → MSADNSSTICVCRSVRQE in isoform 2. 1 PublicationVSP_043048Add
    BLAST
    Alternative sequencei19 – 223205Missing in isoform 2. 1 PublicationVSP_043049Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY260572 mRNA. Translation: AAP86633.1.
    AY260577 mRNA. Translation: AAP86638.1.
    AF456126 mRNA. Translation: AAO15528.1.
    AK000378 mRNA. Translation: BAA91126.1.
    AK027804 mRNA. Translation: BAB55381.1. Different initiation.
    AK297002 mRNA. Translation: BAH12471.1.
    AC007182 Genomic DNA. Translation: AAD51374.1.
    CH471061 Genomic DNA. Translation: EAW81235.1.
    BC019087 mRNA. Translation: AAH19087.1.
    CCDSiCCDS55933.1. [Q9UPI3-2]
    CCDS9844.1. [Q9UPI3-1]
    RefSeqiNP_001182212.1. NM_001195283.1. [Q9UPI3-2]
    NP_060261.2. NM_017791.2. [Q9UPI3-1]
    UniGeneiHs.509966.

    Genome annotation databases

    EnsembliENST00000238667; ENSP00000238667; ENSG00000119686. [Q9UPI3-1]
    ENST00000539311; ENSP00000443439; ENSG00000119686. [Q9UPI3-2]
    GeneIDi55640.
    KEGGihsa:55640.
    UCSCiuc001xrs.2. human. [Q9UPI3-1]
    uc010tvd.1. human. [Q9UPI3-2]

    Polymorphism databases

    DMDMi46396034.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY260572 mRNA. Translation: AAP86633.1 .
    AY260577 mRNA. Translation: AAP86638.1 .
    AF456126 mRNA. Translation: AAO15528.1 .
    AK000378 mRNA. Translation: BAA91126.1 .
    AK027804 mRNA. Translation: BAB55381.1 . Different initiation.
    AK297002 mRNA. Translation: BAH12471.1 .
    AC007182 Genomic DNA. Translation: AAD51374.1 .
    CH471061 Genomic DNA. Translation: EAW81235.1 .
    BC019087 mRNA. Translation: AAH19087.1 .
    CCDSi CCDS55933.1. [Q9UPI3-2 ]
    CCDS9844.1. [Q9UPI3-1 ]
    RefSeqi NP_001182212.1. NM_001195283.1. [Q9UPI3-2 ]
    NP_060261.2. NM_017791.2. [Q9UPI3-1 ]
    UniGenei Hs.509966.

    3D structure databases

    ProteinModelPortali Q9UPI3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    MINTi MINT-4724942.

    Protein family/group databases

    TCDBi 2.A.1.28.4. the major facilitator superfamily (mfs).

    PTM databases

    PhosphoSitei Q9UPI3.

    Polymorphism databases

    DMDMi 46396034.

    Proteomic databases

    MaxQBi Q9UPI3.
    PaxDbi Q9UPI3.
    PRIDEi Q9UPI3.

    Protocols and materials databases

    DNASUi 55640.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000238667 ; ENSP00000238667 ; ENSG00000119686 . [Q9UPI3-1 ]
    ENST00000539311 ; ENSP00000443439 ; ENSG00000119686 . [Q9UPI3-2 ]
    GeneIDi 55640.
    KEGGi hsa:55640.
    UCSCi uc001xrs.2. human. [Q9UPI3-1 ]
    uc010tvd.1. human. [Q9UPI3-2 ]

    Organism-specific databases

    CTDi 55640.
    GeneCardsi GC14P076045.
    H-InvDB HIX0037867.
    HGNCi HGNC:20105. FLVCR2.
    HPAi HPA037984.
    MIMi 225790. phenotype.
    610865. gene.
    neXtProti NX_Q9UPI3.
    Orphaneti 221126. Fowler syndrome.
    PharmGKBi PA162388720.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG297699.
    HOGENOMi HOG000019717.
    HOVERGENi HBG051631.
    InParanoidi Q9UPI3.
    KOi K08220.
    OMAi QPHLFPV.
    OrthoDBi EOG7KQ21D.
    PhylomeDBi Q9UPI3.
    TreeFami TF314292.

    Miscellaneous databases

    GenomeRNAii 55640.
    NextBioi 60326.
    PROi Q9UPI3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UPI3.
    Bgeei Q9UPI3.
    CleanExi HS_FLVCR2.
    Genevestigatori Q9UPI3.

    Family and domain databases

    InterProi IPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view ]
    Pfami PF07690. MFS_1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Novel hexad repeats conserved in a putative transporter with restricted expression in cell types associated with growth, calcium exchange and homeostasis."
      Brasier G., Tikellis C., Xuereb L., Craigie J., Casley D., Kovacs C.S., Fudge N.J., Kalnins R., Cooper M.E., Wookey P.J.
      Exp. Cell Res. 293:31-42(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHARACTERIZATION.
      Tissue: Pituitary.
    2. "An aspartic acid in the presumptive extracellular loop six of subgroup C feline leukemia virus receptor FLVCR1 is involved in virus infection."
      Brown J., Pirani H., Tailor C.S.
      Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [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 AND 2), VARIANT ALA-16.
      Tissue: Placenta and Umbilical cord blood.
    4. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. 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: Colon.
    7. "The Fowler syndrome-associated protein FLVCR2 is an importer of heme."
      Duffy S.P., Shing J., Saraon P., Berger L.C., Eiden M.V., Wilde A., Tailor C.S.
      Mol. Cell. Biol. 30:5318-5324(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    8. "Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)."
      Meyer E., Ricketts C., Morgan N.V., Morris M.R., Pasha S., Tee L.J., Rahman F., Bazin A., Bessieres B., Dechelotte P., Yacoubi M.T., Al-Adnani M., Marton T., Tannahill D., Trembath R.C., Fallet-Bianco C., Cox P., Williams D., Maher E.R.
      Am. J. Hum. Genet. 86:471-478(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PVHH ARG-280; VAL-398 AND ARG-430.
    9. "Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing."
      Lalonde E., Albrecht S., Ha K.C., Jacob K., Bolduc N., Polychronakos C., Dechelotte P., Majewski J., Jabado N.
      Hum. Mutat. 31:918-923(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PVHH 110-ASN--PHE-112 DELINS ILE; VAL-326 AND VAL-398.
    10. Cited for: VARIANTS PVHH HIS-84; ARG-352; VAL-398; ARG-412 AND MET-430.

    Entry informationi

    Entry nameiFLVC2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UPI3
    Secondary accession number(s): B7Z485
    , Q53ZT9, Q96JY3, Q9NX90
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 114 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 14
      Human chromosome 14: 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