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Q9UBD9

- CLCF1_HUMAN

UniProt

Q9UBD9 - CLCF1_HUMAN

Protein

Cardiotrophin-like cytokine factor 1

Gene

CLCF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Cytokine with B-cell stimulating capability. Binds to and activates the ILST/gp130 receptor.2 Publications

    GO - Molecular functioni

    1. ciliary neurotrophic factor receptor binding Source: BHF-UCL
    2. cytokine activity Source: UniProtKB
    3. growth factor activity Source: HGNC
    4. protein binding Source: BHF-UCL
    5. protein heterodimerization activity Source: BHF-UCL
    6. receptor binding Source: HGNC

    GO - Biological processi

    1. B cell differentiation Source: BHF-UCL
    2. cell surface receptor signaling pathway Source: BHF-UCL
    3. cytokine-mediated signaling pathway Source: UniProtKB
    4. JAK-STAT cascade Source: BHF-UCL
    5. negative regulation of neuron apoptotic process Source: BHF-UCL
    6. positive regulation of astrocyte differentiation Source: BHF-UCL
    7. positive regulation of B cell proliferation Source: BHF-UCL
    8. positive regulation of cell proliferation Source: BHF-UCL
    9. positive regulation of immunoglobulin production Source: BHF-UCL
    10. positive regulation of isotype switching to IgE isotypes Source: BHF-UCL
    11. positive regulation of tyrosine phosphorylation of Stat3 protein Source: BHF-UCL

    Keywords - Molecular functioni

    Cytokine

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cardiotrophin-like cytokine factor 1
    Alternative name(s):
    B-cell-stimulating factor 3
    Short name:
    BSF-3
    Novel neurotrophin-1
    Short name:
    NNT-1
    Gene namesi
    Name:CLCF1
    Synonyms:BSF3, CLC, NNT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:17412. CLCF1.

    Subcellular locationi

    Secreted By similarity

    GO - Cellular componenti

    1. CNTFR-CLCF1 complex Source: BHF-UCL
    2. CRLF-CLCF1 complex Source: BHF-UCL
    3. extracellular region Source: UniProtKB
    4. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Cold-induced sweating syndrome 2 (CISS2) [MIM:610313]: An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti197 – 1971R → L in CISS2; incapacity to bind CNTFR alpha; heterozygous compound with a nonsense mutation. 1 Publication
    VAR_028354

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi610313. phenotype.
    Orphaneti157820. Cold-induced sweating syndrome.
    PharmGKBiPA142672106.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2727Sequence AnalysisAdd
    BLAST
    Chaini28 – 225198Cardiotrophin-like cytokine factor 1PRO_0000015616Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi29 – 291N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9UBD9.
    PeptideAtlasiQ9UBD9.
    PRIDEiQ9UBD9.

    Expressioni

    Tissue specificityi

    Expressed predominantly in lymph nodes, spleen, peripheral blood lymphocytes, bone marrow, and fetal liver.2 Publications

    Gene expression databases

    BgeeiQ9UBD9.
    CleanExiHS_CLC.
    HS_CLCF1.
    GenevestigatoriQ9UBD9.

    Organism-specific databases

    HPAiHPA042444.

    Interactioni

    Protein-protein interaction databases

    BioGridi117075. 3 interactions.
    IntActiQ9UBD9. 1 interaction.
    STRINGi9606.ENSP00000309338.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBD9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the IL-6 superfamily.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG43976.
    HOGENOMiHOG000111785.
    HOVERGENiHBG050737.
    InParanoidiQ9UBD9.
    KOiK05421.
    OMAiAGDSWGM.
    OrthoDBiEOG7B05DT.
    PhylomeDBiQ9UBD9.
    TreeFamiTF333266.

    Family and domain databases

    Gene3Di1.20.1250.10. 1 hit.
    InterProiIPR009079. 4_helix_cytokine-like_core.
    IPR012351. 4_helix_cytokine_core.
    IPR010681. PRF.
    [Graphical view]
    PANTHERiPTHR21353. PTHR21353. 1 hit.
    PfamiPF06875. PRF. 1 hit.
    [Graphical view]
    SUPFAMiSSF47266. SSF47266. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UBD9-1) [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

    MDLRAGDSWG MLACLCTVLW HLPAVPALNR TGDPGPGPSI QKTYDLTRYL    50
    EHQLRSLAGT YLNYLGPPFN EPDFNPPRLG AETLPRATVD LEVWRSLNDK 100
    LRLTQNYEAY SHLLCYLRGL NRQAATAELR RSLAHFCTSL QGLLGSIAGV 150
    MAALGYPLPQ PLPGTEPTWT PGPAHSDFLQ KMDDFWLLKE LQTWLWRSAK 200
    DFNRLKKKMQ PPAAAVTLHL GAHGF 225
    Length:225
    Mass (Da):25,176
    Last modified:May 1, 2000 - v1
    Checksum:iE2DD4B6280833B55
    GO
    Isoform 2 (identifier: Q9UBD9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-10: Missing.

    Show »
    Length:215
    Mass (Da):24,087
    Checksum:i88FC4F7B4A454C1F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti23 – 231P → L in AAH66231. (PubMed:15489334)Curated
    Sequence conflicti218 – 2181L → P in AAH66231. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti197 – 1971R → L in CISS2; incapacity to bind CNTFR alpha; heterozygous compound with a nonsense mutation. 1 Publication
    VAR_028354

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1010Missing in isoform 2. 1 PublicationVSP_044269

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF176911 mRNA. Translation: AAF00991.1.
    AF176912 Genomic DNA. Translation: AAF00992.1.
    AF172854 mRNA. Translation: AAD54284.1.
    AY049779 mRNA. Translation: AAL15436.1.
    AK298052 mRNA. Translation: BAG60346.1.
    AP003419 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW74601.1.
    BC012939 mRNA. Translation: AAH12939.1.
    BC066229 mRNA. Translation: AAH66229.1.
    BC066230 mRNA. Translation: AAH66230.1.
    BC066231 mRNA. Translation: AAH66231.1.
    CCDSiCCDS31617.1. [Q9UBD9-1]
    CCDS53666.1. [Q9UBD9-2]
    RefSeqiNP_001159684.1. NM_001166212.1. [Q9UBD9-2]
    NP_037378.1. NM_013246.2. [Q9UBD9-1]
    UniGeneiHs.502977.

    Genome annotation databases

    EnsembliENST00000312438; ENSP00000309338; ENSG00000175505. [Q9UBD9-1]
    ENST00000533438; ENSP00000434122; ENSG00000175505. [Q9UBD9-2]
    GeneIDi23529.
    KEGGihsa:23529.
    UCSCiuc001okq.3. human. [Q9UBD9-1]

    Polymorphism databases

    DMDMi56404673.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF176911 mRNA. Translation: AAF00991.1 .
    AF176912 Genomic DNA. Translation: AAF00992.1 .
    AF172854 mRNA. Translation: AAD54284.1 .
    AY049779 mRNA. Translation: AAL15436.1 .
    AK298052 mRNA. Translation: BAG60346.1 .
    AP003419 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW74601.1 .
    BC012939 mRNA. Translation: AAH12939.1 .
    BC066229 mRNA. Translation: AAH66229.1 .
    BC066230 mRNA. Translation: AAH66230.1 .
    BC066231 mRNA. Translation: AAH66231.1 .
    CCDSi CCDS31617.1. [Q9UBD9-1 ]
    CCDS53666.1. [Q9UBD9-2 ]
    RefSeqi NP_001159684.1. NM_001166212.1. [Q9UBD9-2 ]
    NP_037378.1. NM_013246.2. [Q9UBD9-1 ]
    UniGenei Hs.502977.

    3D structure databases

    ProteinModelPortali Q9UBD9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117075. 3 interactions.
    IntActi Q9UBD9. 1 interaction.
    STRINGi 9606.ENSP00000309338.

    Polymorphism databases

    DMDMi 56404673.

    Proteomic databases

    PaxDbi Q9UBD9.
    PeptideAtlasi Q9UBD9.
    PRIDEi Q9UBD9.

    Protocols and materials databases

    DNASUi 23529.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312438 ; ENSP00000309338 ; ENSG00000175505 . [Q9UBD9-1 ]
    ENST00000533438 ; ENSP00000434122 ; ENSG00000175505 . [Q9UBD9-2 ]
    GeneIDi 23529.
    KEGGi hsa:23529.
    UCSCi uc001okq.3. human. [Q9UBD9-1 ]

    Organism-specific databases

    CTDi 23529.
    GeneCardsi GC11M067131.
    GeneReviewsi CLCF1.
    HGNCi HGNC:17412. CLCF1.
    HPAi HPA042444.
    MIMi 607672. gene.
    610313. phenotype.
    neXtProti NX_Q9UBD9.
    Orphaneti 157820. Cold-induced sweating syndrome.
    PharmGKBi PA142672106.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG43976.
    HOGENOMi HOG000111785.
    HOVERGENi HBG050737.
    InParanoidi Q9UBD9.
    KOi K05421.
    OMAi AGDSWGM.
    OrthoDBi EOG7B05DT.
    PhylomeDBi Q9UBD9.
    TreeFami TF333266.

    Miscellaneous databases

    GeneWikii CLCF1.
    GenomeRNAii 23529.
    NextBioi 46000.
    PROi Q9UBD9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UBD9.
    CleanExi HS_CLC.
    HS_CLCF1.
    Genevestigatori Q9UBD9.

    Family and domain databases

    Gene3Di 1.20.1250.10. 1 hit.
    InterProi IPR009079. 4_helix_cytokine-like_core.
    IPR012351. 4_helix_cytokine_core.
    IPR010681. PRF.
    [Graphical view ]
    PANTHERi PTHR21353. PTHR21353. 1 hit.
    Pfami PF06875. PRF. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47266. SSF47266. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
    2. "Computational EST database analysis identifies a novel member of the neuropoietic cytokine family."
      Shi Y., Wang W., Yourey P.A., Gohari S., Zukauskas D., Zhang J., Ruben S., Alderson R.F.
      Biochem. Biophys. Res. Commun. 262:132-138(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
    3. Hu X., Xu Y., Zhang B., Peng X., Yuan J., Qiang B.
      Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. "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] (ISOFORM 2).
      Tissue: Lung.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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: Kidney.
    8. "Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient."
      Rousseau F., Gauchat J.-F., McLeod J.G., Chevalier S., Guillet C., Guilhot F., Cognet I., Froger J., Hahn A.F., Knappskog P.M., Gascan H., Boman H.
      Proc. Natl. Acad. Sci. U.S.A. 103:10068-10073(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CISS2 LEU-197, CHARACTERIZATION OF VARIANT CISS2 LEU-197.

    Entry informationi

    Entry nameiCLCF1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBD9
    Secondary accession number(s): B4DNT4, Q6NZA4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 7, 2004
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 112 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 11
      Human chromosome 11: 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