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Q9UBD9

- CLCF1_HUMAN

UniProt

Q9UBD9 - CLCF1_HUMAN

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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

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 heterodimerization activity Source: BHF-UCL
  5. 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
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00510000048856.
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

        10         20         30         40         50
MDLRAGDSWG MLACLCTVLW HLPAVPALNR TGDPGPGPSI QKTYDLTRYL
60 70 80 90 100
EHQLRSLAGT YLNYLGPPFN EPDFNPPRLG AETLPRATVD LEVWRSLNDK
110 120 130 140 150
LRLTQNYEAY SHLLCYLRGL NRQAATAELR RSLAHFCTSL QGLLGSIAGV
160 170 180 190 200
MAALGYPLPQ PLPGTEPTWT PGPAHSDFLQ KMDDFWLLKE LQTWLWRSAK
210 220
DFNRLKKKMQ PPAAAVTLHL GAHGF
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00510000048856.
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

« Hide 'large scale' publications
  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 29, 2014
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 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