CR1L Gene (Protein Coding)

Complement C3b/C4b Receptor 1 Like

GC01P207646
GIFtS:
34
See more...

Aliases for CR1L Gene

Aliases for CR1L Gene

  • Complement C3b/C4b Receptor 1 Like 2 3 5
  • Complement C4b-Binding Protein CR-1-Like Protein 3 4
  • Complement Component (3b/4b) Receptor 1-Like 2 3
  • Complement Component Receptor 1-Like Protein 3 4
  • CR1L 5

External Ids for CR1L Gene

Previous GeneCards Identifiers for CR1L Gene

  • GC01P206492
  • GC01P203528
  • GC01P204461
  • GC01P204579
  • GC01P204581
  • GC01P204206
  • GC01P205885
  • GC01P207820
  • GC01P178493
  • GC01P207826

Summaries for CR1L Gene

GeneCards Summary for CR1L Gene

CR1L (Complement C3b/C4b Receptor 1 Like) is a Protein Coding gene. Diseases associated with CR1L include Complement Component Receptor 1 and Cortisone Reductase Deficiency. Among its related pathways are Complement and coagulation cascades and Legionellosis. An important paralog of this gene is CR1.

Additional gene information for CR1L Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CR1L Gene

Genomics for CR1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CR1L Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J207644 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.6 641 2.7 SP1 ZNF207 MYC IKZF1 ZNF600 ZNF592 ZIC2 NFIC SMAD5 SIN3A CD46P1 CR1L C4BPA MIR29B2CHG CD46 CDCA4P3
GH01J207649 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 23 +4.8 4835 1.8 IKZF1 NCOR1 ZNF580 ZNF592 NFIC ZIC2 SMAD5 BHLHE40 FEZF1 MBD2 CR1L C4BPA MIR29B2CHG CR2 CD46P1 CDCA4P3 CD46
GH01J207747 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.3 +106.7 106653 8.1 SP1 IKZF1 ZNF600 ZNF592 KLF9 POLR2A ZNF10 JUND NFIC ZIC2 CD46 lnc-CD34-7 CDCA4P4 MIR29B2CHG CR1L lnc-CD34-5
GH01J207816 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 +177.8 177798 12.5 BCLAF1 SP1 ZNF207 MYC ZNF654 NCOR1 ZNF600 IKZF1 ZNF580 ZNF592 MIR29B2CHG lnc-CD46-6 CD46 CDCA4P4 CD34 CR1 PLXNA2 CR1L LOC148696 piR-40549
GH01J207648 Enhancer 0.7 FANTOM5 dbSUPER 13.2 +3.4 3418 0.2 IKZF1 ARNT PRDM10 FOXK2 ZNF24 MNT CBFA2T3 CR1L C4BPA MIR29B2CHG CD46P1 CDCA4P3 CD46
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CR1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CR1L

Top Transcription factor binding sites by QIAGEN in the CR1L gene promoter:
  • aMEF-2
  • FOXO1
  • FOXO1a
  • HNF-3beta
  • MEF-2
  • MEF-2A
  • Sox5
  • Spz1

Genomic Locations for CR1L Gene

Latest Assembly
chr1:207,645,113-207,738,416
(GRCh38/hg38)
Size:
93,304 bases
Orientation:
Plus strand

Previous Assembly
chr1:207,818,478-207,897,048
(GRCh37/hg19 by Entrez Gene)
Size:
78,571 bases
Orientation:
Plus strand

chr1:207,818,458-207,911,761
(GRCh37/hg19 by Ensembl)
Size:
93,304 bases
Orientation:
Plus strand

Genomic View for CR1L Gene

Genes around CR1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CR1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CR1L Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CR1L Gene

Proteins for CR1L Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for CR1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2VPA4-CR1L_HUMAN
    Recommended name:
    Complement component receptor 1-like protein
    Protein Accession:
    Q2VPA4
    Secondary Accessions:
    • Q32MC9
    • Q8NEU7

    Protein attributes for CR1L Gene

    Size:
    569 amino acids
    Molecular mass:
    62714 Da
    Quaternary structure:
    • Interacts with iC4 (methylamine-treated C4) but not for iC3 (methylamine-treated C3).

    Alternative splice isoforms for CR1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CR1L Gene

Protein Expression for CR1L Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CR1L Gene

  • Glycosylation at Asn48
  • Modification sites at PhosphoSitePlus

Other Protein References for CR1L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CR1L Gene

Domains & Families for CR1L Gene

Gene Families for CR1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CR1L Gene

InterPro:

Suggested Antigen Peptide Sequences for CR1L Gene

GenScript: Design optimal peptide antigens:
  • Complement C4b-binding protein CR-1-like protein (CR1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2VPA4

UniProtKB/Swiss-Prot:

CR1L_HUMAN :
  • Belongs to the receptors of complement activation (RCA) family.
Family:
  • Belongs to the receptors of complement activation (RCA) family.
genes like me logo Genes that share domains with CR1L: view

Function for CR1L Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for CR1L Gene

GENATLAS Biochemistry:
complement component (3b/4b) receptor 1-like (see RCA@)

Phenotypes From GWAS Catalog for CR1L Gene

Gene Ontology (GO) - Molecular Function for CR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with CR1L: view
genes like me logo Genes that share phenotypes with CR1L: view

Animal Models for CR1L Gene

MGI Knock Outs for CR1L:
  • Cr1l Cr1l<tm1b(KOMP)Wtsi>
  • Cr1l Cr1l<tm1Hmo>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CR1L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CR1L Gene

Localization for CR1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for CR1L Gene

Cytoplasm. Membrane. Secreted. Note=Predominantly found in association with the membrane fraction, but also located in the cytoplasm and in the supernatant.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CR1L gene
Compartment Confidence
extracellular 4
plasma membrane 2
nucleus 1
endoplasmic reticulum 1
lysosome 0

Gene Ontology (GO) - Cellular Components for CR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with CR1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CR1L Gene

Pathways & Interactions for CR1L Gene

genes like me logo Genes that share pathways with CR1L: view

Pathways by source for CR1L Gene

Gene Ontology (GO) - Biological Process for CR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030449 regulation of complement activation IDA 25284781
GO:1903659 regulation of complement-dependent cytotoxicity IDA 25284781
genes like me logo Genes that share ontologies with CR1L: view

No data available for SIGNOR curated interactions for CR1L Gene

Drugs & Compounds for CR1L Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for CR1L Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for CR1L Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CR1L

Alternative Splicing Database (ASD) splice patterns (SP) for CR1L Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: -

Relevant External Links for CR1L Gene

GeneLoc Exon Structure for
CR1L

Expression for CR1L Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CR1L Gene

mRNA expression in normal human tissues for CR1L Gene
mRNA expression by GTEx for CR1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CR1L Gene

This gene is overexpressed in Whole Blood (x22.6).

Protein differential expression in normal tissues from HIPED for CR1L Gene

This gene is overexpressed in Serum (50.9) and Peripheral blood mononuclear cells (18.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CR1L Gene



Protein tissue co-expression partners for CR1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CR1L

SOURCE GeneReport for Unigene cluster for CR1L Gene:

Hs.655194

mRNA Expression by UniProt/SwissProt for CR1L Gene:

Q2VPA4-CR1L_HUMAN
Tissue specificity: Expressed in fetal liver and to a lesser extent in fetal spleen and thymus. Expression appears to be limited to hematopoietic and fetal lymphoid tissue.

Evidence on tissue expression from TISSUES for CR1L Gene

  • Bone marrow(4.3)
genes like me logo Genes that share expression patterns with CR1L: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CR1L Gene

Orthologs for CR1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for CR1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CR1L 29 30
  • 94.2 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cr1l 29 16 30
  • 66.37 (n)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Cr1l 29
  • 58.4 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 33 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 32 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia -- 30
  • 16 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 24 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii sele 30
  • 12 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 4 (a)
 OneToMany
Species where no ortholog for CR1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CR1L Gene

ENSEMBL:
Gene Tree for CR1L (if available)
TreeFam:
Gene Tree for CR1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CR1L: view image
Alliance of Genome Resources:
Additional Orthologs for CR1L

Paralogs for CR1L Gene

Paralogs for CR1L Gene

(4) SIMAP similar genes for CR1L Gene using alignment to 1 proteins:

  • CR1L_HUMAN
genes like me logo Genes that share paralogs with CR1L: view

Variants for CR1L Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CR1L Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12729569 -- p.Asn402Asp
rs2296158 -- p.Arg116Gly
rs2796257 -- p.Leu491Pro
rs3085 -- p.Ile139Val
rs6683902 -- p.Ile455Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CR1L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CR1L Gene

Variant ID Type Subtype PubMed ID
esv25546 CNV loss 19812545
esv2675458 CNV deletion 23128226
esv2676306 CNV deletion 23128226
esv2722106 CNV deletion 23290073
esv2722117 CNV deletion 23290073
esv27524 CNV loss 19812545
esv2758993 CNV gain+loss 17122850
esv3545666 CNV deletion 23714750
esv3578397 CNV loss 25503493
esv3588674 CNV gain 21293372
esv3588675 CNV loss 21293372
esv3891082 CNV loss 25118596
nsv8735 CNV gain 18304495
nsv8746 CNV loss 18304495
nsv8757 CNV gain 18304495
nsv945269 CNV duplication 23825009

Variation tolerance for CR1L Gene

Residual Variation Intolerance Score: 98.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.60; 86.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CR1L Gene

Human Gene Mutation Database (HGMD)
CR1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CR1L
Leiden Open Variation Database (LOVD)
CR1L

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CR1L Gene

Disorders for CR1L Gene

MalaCards: The human disease database

(2) MalaCards diseases for CR1L Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CR1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CR1L

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CR1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CR1L Gene

Publications for CR1L Gene

  1. Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. (PMID: 21700265) Kullo IJ … Chute CG (American journal of human genetics 2011) 3 40
  2. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. (PMID: 19060910) Sabatti C … Peltonen L (Nature genetics 2009) 3 40
  3. A human CR1-like transcript containing sequence for a binding protein for iC4 is expressed in hematopoietic and fetal lymphoid tissue. (PMID: 14687939) Logar CM … Birmingham DJ (Molecular immunology 2004) 3 4
  4. Duplication and divergence of the amino-terminal coding region of the complement receptor 1 (CR1) gene. An example of concerted (horizontal) evolution within a gene. (PMID: 2295627) Hourcade D … Atkinson JP (The Journal of biological chemistry 1990) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for CR1L gene in Mastermind

Products for CR1L Gene

Sources for CR1L Gene