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Protein

Cardiotrophin-like cytokine factor 1

Gene

CLCF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • ciliary neurotrophic factor receptor binding Source: BHF-UCL
  • cytokine activity Source: UniProtKB
  • growth factor activity Source: HGNC
  • protein heterodimerization activity Source: BHF-UCL
  • receptor binding Source: HGNC

GO - Biological processi

Keywordsi

Molecular functionCytokine

Enzyme and pathway databases

ReactomeiR-HSA-6788467 IL-6-type cytokine receptor ligand interactions
SIGNORiQ9UBD9

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000175505.10
HGNCiHGNC:17412 CLCF1
MIMi607672 gene
neXtProtiNX_Q9UBD9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Cold-induced sweating syndrome 2 (CISS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:610313
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028354197R → L in CISS2; heterozygous compound with a nonsense mutation; unable to bind CNTFR alpha. 1 PublicationCorresponds to variant dbSNP:rs104894203Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi23529
GeneReviewsiCLCF1
MalaCardsiCLCF1
MIMi610313 phenotype
OpenTargetsiENSG00000175505
Orphaneti157820 Cold-induced sweating syndrome
1545 Crisponi syndrome
PharmGKBiPA142672106

Polymorphism and mutation databases

BioMutaiCLCF1
DMDMi56404673

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000001561628 – 225Cardiotrophin-like cytokine factor 1Add BLAST198

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi29N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9UBD9
PeptideAtlasiQ9UBD9
PRIDEiQ9UBD9

PTM databases

iPTMnetiQ9UBD9
PhosphoSitePlusiQ9UBD9

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000175505
CleanExiHS_CLC
HS_CLCF1
GenevisibleiQ9UBD9 HS

Organism-specific databases

HPAiHPA042444

Interactioni

GO - Molecular functioni

  • ciliary neurotrophic factor receptor binding Source: BHF-UCL
  • cytokine activity Source: UniProtKB
  • growth factor activity Source: HGNC
  • protein heterodimerization activity Source: BHF-UCL
  • receptor binding Source: HGNC

Protein-protein interaction databases

BioGridi117075, 3 interactors
DIPiDIP-61204N
IntActiQ9UBD9, 2 interactors
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

eggNOGiENOG410IVWG Eukaryota
ENOG4111HCM LUCA
GeneTreeiENSGT00510000048856
HOGENOMiHOG000111785
HOVERGENiHBG050737
InParanoidiQ9UBD9
KOiK05421
OMAiTGDSWGM
OrthoDBiEOG091G0LAL
PhylomeDBiQ9UBD9
TreeFamiTF333266

Family and domain databases

InterProiView protein in InterPro
IPR009079 4_helix_cytokine-like_core
IPR010681 PRF/CT
PANTHERiPTHR21353 PTHR21353, 1 hit
PfamiView protein in Pfam
PF06875 PRF, 1 hit
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti23P → L in AAH66231 (PubMed:15489334).Curated1
Sequence conflicti218L → P in AAH66231 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028354197R → L in CISS2; heterozygous compound with a nonsense mutation; unable to bind CNTFR alpha. 1 PublicationCorresponds to variant dbSNP:rs104894203Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0442691 – 10Missing in isoform 2. 1 Publication10

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.4 human [Q9UBD9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCLCF1_HUMAN
AccessioniPrimary (citable) accession number: Q9UBD9
Secondary accession number(s): B4DNT4, Q6NZA4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: May 1, 2000
Last modified: April 25, 2018
This is version 139 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health