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C1QL4 Gene

protein-coding   GIFtS: 39
GCID: GC12M049726

Complement Component 1, Q Subcomponent-Like 4

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Complement Component 1, Q Subcomponent-Like 41 2
CTRP112 3 5
C1q And Tumor Necrosis Factor-Related Protein 112 3
C1q/TNF-Related Protein 112 3
C1QTNF112
Complement C1q-Like Protein 42

External Ids:    HGNC: 314161   Entrez Gene: 3387612   Ensembl: ENSG000001868977   OMIM: 6152295   UniProtKB: Q86Z233   

Export aliases for C1QL4 gene to outside databases

Previous GC identifers: GC12M048013 GC12M046756


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C1QL4 Gene:
C1QL4 (complement component 1, q subcomponent-like 4) is a protein-coding gene. Diseases associated with C1QL4 include neuronitis. An important paralog of this gene is CBLN2.

UniProtKB/Swiss-Prot: C1QL4_HUMAN, Q86Z23
Function: May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on
inhibitory synapses (By similarity). May inhibit adipocyte differentiation at an early stage of the process (By
similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1QL4 gene promoter:
         GR   STAT1   GR-beta   STAT1beta   STAT1alpha   S8   STAT2   STAT3   PPAR-gamma2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC1QL4 promoter sequence
   Search Chromatin IP Primers for C1QL4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1QL4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.12   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13.12

C1QL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1QL4 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M049726:  view genomic region     (about GC identifiers)

Start:
49,726,200 bp from pter      End:
49,730,971 bp from pter
Size:
4,772 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: C1QL4_HUMAN, Q86Z23 (See protein sequence)
Recommended Name: Complement C1q-like protein 4 precursor  
Size: 238 amino acids; 24909 Da
Subunit: Forms homooligomers, predominantly dimers or trimers (By similarity). Forms heterooligomers with C1QL1,
C1QL2 and C1QL3, when proteins are coexpressed; this interaction does not occur after secretion (By similarity).
Interacts with BAI3 (By similarity)

Explore the universe of human proteins at neXtProt for C1QL4: NX_Q86Z23

Explore proteomics data for C1QL4 at MOPED


See C1QL4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001008224.1  
ENSEMBL proteins: 
 ENSP00000335285  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR008983 Tumour_necrosis_fac-like_dom
 IPR001073 C1q

Graphical View of Domain Structure for InterPro Entry Q86Z23

ProtoNet protein and cluster: Q86Z23

2 Blocks protein domains:
IPB001073 Complement C1q protein
IPB008160 Collagen triple helix repeat


UniProtKB/Swiss-Prot: C1QL4_HUMAN, Q86Z23
Similarity: Contains 1 C1q domain
Similarity: Contains 1 collagen-like domain


C1QL4 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: C1QL4_HUMAN, Q86Z23
Function: May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on
inhibitory synapses (By similarity). May inhibit adipocyte differentiation at an early stage of the process (By
similarity)

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
C1QL4 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for C1QL4:
 Actin fiber cells 

Animal Models:
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SwitchGear 3'UTR luciferase reporter plasmidC1QL4 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
C1QL4_HUMAN, Q86Z23: Secreted (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005581collagen IEA--

C1QL4 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C1QL4
Interactions:

    Search GeneGlobe Interaction Network for C1QL4

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C1QL4



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for C1QL4 gene: 
NM_001008223.1  

Unigene Cluster for C1QL4:

Complement component 1, q subcomponent-like 4
Hs.380386  [show with all ESTs]
Unigene Representative Sequence: BC110812
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000334221(uc001rtz.1)
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat C1QL4

Additional mRNA sequence: 

AF466366.1 BC110812.1 

1 DOTS entry:

DT.101977763 

12 AceView cDNA sequences:

CR600274 AF466366 AL518440 BE888168 BM847021 AL561826 BM762336 AL529898 
AL518439 BM844470 AL529897 AL519829 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C1QL4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAGAACGGAC
C1QL4 Expression
About this image

C1QL4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C1QL4 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.380386

UniProtKB/Swiss-Prot: C1QL4_HUMAN, Q86Z23
Tissue specificity: Highest expression levels in testis and adipose tissue, lower levels in skeletal muscle and
kidney

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for C1QL4 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia C1ql41 , 5 complement component 1, q subcomponent-like 41, 5 87.85(n)1
96.44(a)1
  15 (55.84 cM)5
2396591  NM_001024702.11  NP_001019873.11 
 990847545 
lizard
(Anolis carolinensis)
Reptilia C1QL46
complement component 1, q subcomponent-like 4
79(a)
1 ↔ 1
GL343198.1(2342813-2389198)
African clawed frog
(Xenopus laevis)
Amphibia Xl.129052 Xenopus laevis transcribed sequence with moderate similarity more 78.54(n)    BJ092454.1 
zebrafish
(Danio rerio)
Actinopterygii LOC5675401 complement C1q-like protein 4-like 67.3(n)
75.83(a)
  567540  XM_690836.5  XP_695928.4 
fruit fly
(Drosophila melanogaster)
Insecta Capr6
Caprin
4(a)
1 → many
3L(18661253-18666260)


ENSEMBL Gene Tree for C1QL4 (if available)
TreeFam Gene Tree for C1QL4 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C1QL4 gene
CBLN22  C1QL32  CBLN12  C1QTNF32  CAPRIN12  ENSG000002732942  C1QL22  CBLN32  
CAPRIN22  C1QL12  CBLN42  
7 SIMAP similar genes for C1QL4 using alignment to 1 protein entry:     C1QL4_HUMAN:
C1QL3    C1QL1    C1QL2    OTOL1    C1QC    COL8A2
C1QTNF3

C1QL4 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C1QL4 (see all 146)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1497713331,2
C--49726027(+) AGAAG-/CACACAC 1 -- ds50010--------
rs1827025291,2
--49726053(+) CCAGAA/GGCAGG 1 -- ds50010--------
rs1159226251,2
C,F--49726108(+) CAGCAC/AGGTAG 1 -- ds50011Minor allele frequency- A:0.03WA 118
rs104004351,2
C,F,A,H--49726118(+) GGAGCT/CCTTTA 1 -- ds500124Minor allele frequency- C:0.22NS EA NA WA CSA 2556
rs775560081,2
C,F--49726158(+) CCCCCC/TAGTCT 1 -- ds50012Minor allele frequency- T:0.07CSA WA 120
rs1123418331,2
C--49726255(+) GGATAG/-AGGGG 1 -- ut311Minor allele frequency- -:0.50CSA 2
rs599905551,2
C--49726326(+) TTCACA/GGGAAG 1 -- ut313Minor allele frequency- G:0.08WA NA 240
rs1132634641,2
C,F--49726438(+) CTTCTG/CTTGCC 1 -- ut311Minor allele frequency- C:0.50NA 2
rs1858642111,2
--49726523(+) AGTCCC/TGCTAT 1 -- ut310--------
rs1513155401,2
C--49726649(+) GGTCT-/CCTC  
        
CCTCC
1 -- ut310--------

HapMap Linkage Disequilibrium report for C1QL4 (49726200 - 49730971 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for C1QL4:    About this table    
Variant IDTypeSubtypePubMed ID
dgv1423n71CNV Loss21882294
nsv826368CNV Gain20364138
nsv832405CNV Gain17160897

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 615229    OMIM disorders: --

1 disease for C1QL4:    
About MalaCards
neuronitis


C1QL4 for disorders           About GeneDecksing


Export disorders for C1QL4 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for C1QL4 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C1QL4)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  2. C1q/tumor necrosis factor-related protein 11 (CTRP11), a novel adipose stroma-derived regulator of adipogenesis. (PubMed id 23449976)2 Wei Z....Wong G.W. (J. Biol. Chem. 2013)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. (PubMed id )2 

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 338761 HGNC: 31416 AceView: LOC338761 Ensembl:ENSG00000186897 euGenes: HUgn338761
ECgene: C1QL4 H-InvDB: C1QL4

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for C1QL4 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for C1QL4 gene:
Search GeneIP for patents involving C1QL4

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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