Aliases for IGKV4-1 Gene

Aliases for IGKV4-1 Gene

  • Immunoglobulin Kappa Variable 4-1 2 3 4 5
  • IGKV41 2 3
  • B3 2 3
  • Ig Kappa Chain V-IV Region B17 4
  • Ig Kappa Chain V-IV Region Len 4
  • Ig Kappa Chain V-IV Region STH 4
  • Ig Kappa Chain V-IV Region JI 4
  • IGKV4-1 5

External Ids for IGKV4-1 Gene

Previous GeneCards Identifiers for IGKV4-1 Gene

  • GC02P088739
  • GC02M089478
  • GC02P089070
  • GC02P089087
  • GC02P089024
  • GC02P089184

Summaries for IGKV4-1 Gene

GeneCards Summary for IGKV4-1 Gene

IGKV4-1 (Immunoglobulin Kappa Variable 4-1) is a Protein Coding gene. Among its related pathways are Cell surface interactions at the vascular wall and RET signaling. Gene Ontology (GO) annotations related to this gene include antigen binding. An important paralog of this gene is IGKV1-39.

UniProtKB/Swiss-Prot Summary for IGKV4-1 Gene

  • V segment of the variable domain of immunoglobulins light chain that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).

Additional gene information for IGKV4-1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGKV4-1 Gene

Genomics for IGKV4-1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IGKV4-1 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
GH02J088886 Enhancer 0.6 Ensembl dbSUPER 600.7 +1.4 1357 2.9 POLR2A RUNX3 TAF1 SPI1 IGKV4-1 lnc-RPIA-4 RPIA IGKV1-17 lnc-EIF2AK3-9 IGKV5-2 IGK ENSG00000240040 lnc-EIF2AK3-26
GH02J088883 Enhancer 0.3 Ensembl dbSUPER 600.7 -1.7 -1696 0.6 IGKV4-1 IGKJ1 IGK ENSG00000240040 lnc-EIF2AK3-26
GH02J088884 Enhancer 0.3 Ensembl dbSUPER 600.7 -0.7 -696 0.2 IGKV4-1 lnc-RPIA-4 IGKJ1 IGK ENSG00000240040 lnc-EIF2AK3-26
GH02J088853 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.9 -27.6 -27587 10.4 POLR2A RELA YY1 NR2C2 GABPA TFDP1 NFIC NR2F2 NR2F1 SPI1 IGK IGKC IGKV1-13 THNSL2 RPIA IGKV4-1 ANKRD36BP2 EIF2AK3 IGKJ1 IGKJ2
GH02J088879 Enhancer 0.8 ENCODE dbSUPER 0.7 -4.9 -4937 1 CTCF RELA ZNF24 RAD21 POLR2A RUNX3 SMC3 ZBTB17 ZNF654 TRIM28 RPIA IGKV4-1 IGKJ1 IGK ENSG00000240040 lnc-EIF2AK3-26
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGKV4-1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for IGKV4-1 Gene

Genomic Locations for IGKV4-1 Gene
chr2:88,885,397-88,886,153
(GRCh38/hg38)
Size:
757 bases
Orientation:
Plus strand
chr2:89,184,913-89,185,669
(GRCh37/hg19)
Size:
757 bases
Orientation:
Plus strand

Genomic View for IGKV4-1 Gene

Genes around IGKV4-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGKV4-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGKV4-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGKV4-1 Gene

Proteins for IGKV4-1 Gene

  • Protein details for IGKV4-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06312-KV401_HUMAN
    Recommended name:
    Immunoglobulin kappa variable 4-1
    Protein Accession:
    P06312
    Secondary Accessions:
    • P01625
    • P06313
    • P06314
    • P83593

    Protein attributes for IGKV4-1 Gene

    Size:
    121 amino acids
    Molecular mass:
    13380 Da
    Quaternary structure:
    • Immunoglobulins are composed of two identical heavy chains and two identical light chains; disulfide-linked.
    SequenceCaution:
    • Sequence=CAA26733.1; Type=Miscellaneous discrepancy; Note=Chimeric DNA corresponding to regions V and J of immunoglobulin kappa light chain.; Evidence={ECO:0000305}; Sequence=CAA77317.1; Type=Miscellaneous discrepancy; Note=Chimeric DNA corresponding to regions V and J of immunoglobulin kappa light chain.; Evidence={ECO:0000305}; Sequence=CAA77318.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IGKV4-1 Gene

neXtProt entry for IGKV4-1 Gene

Post-translational modifications for IGKV4-1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IGKV4-1 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for IGKV4-1 Gene

Domains & Families for IGKV4-1 Gene

Gene Families for IGKV4-1 Gene

Protein Domains for IGKV4-1 Gene

InterPro:
Blocks:
  • Immunoglobulin V-set
  • Immunoglobulin V-type
ProtoNet:

Suggested Antigen Peptide Sequences for IGKV4-1 Gene

GenScript: Design optimal peptide antigens:
  • Ig kappa chain V-IV region (KV401_HUMAN)
genes like me logo Genes that share domains with IGKV4-1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGKV4-1 Gene

Function for IGKV4-1 Gene

Molecular function for IGKV4-1 Gene

UniProtKB/Swiss-Prot Function:
V segment of the variable domain of immunoglobulins light chain that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).

Gene Ontology (GO) - Molecular Function for IGKV4-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding NAS 50995
genes like me logo Genes that share ontologies with IGKV4-1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGKV4-1 Gene

Localization for IGKV4-1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGKV4-1 Gene

Secreted. Cell membrane.

Gene Ontology (GO) - Cellular Components for IGKV4-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0019814 immunoglobulin complex IEA --
genes like me logo Genes that share ontologies with IGKV4-1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for IGKV4-1 Gene

Pathways & Interactions for IGKV4-1 Gene

genes like me logo Genes that share pathways with IGKV4-1: view

Interacting Proteins for IGKV4-1 Gene

Gene Ontology (GO) - Biological Process for IGKV4-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0002377 immunoglobulin production IBA 21873635
GO:0006898 receptor-mediated endocytosis TAS --
GO:0006955 immune response IBA,NAS 50995
genes like me logo Genes that share ontologies with IGKV4-1: view

No data available for SIGNOR curated interactions for IGKV4-1 Gene

Drugs & Compounds for IGKV4-1 Gene

No Compound Related Data Available

Transcripts for IGKV4-1 Gene

mRNA/cDNA for IGKV4-1 Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for IGKV4-1 Gene

No ASD Table

Relevant External Links for IGKV4-1 Gene

GeneLoc Exon Structure for
IGKV4-1

Expression for IGKV4-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IGKV4-1 Gene

mRNA differential expression in normal tissues according to GTEx for IGKV4-1 Gene

This gene is overexpressed in Spleen (x14.6), Colon - Transverse (x7.4), Minor Salivary Gland (x4.8), and Small Intestine - Terminal Ileum (x4.7).

Protein differential expression in normal tissues from HIPED for IGKV4-1 Gene

This gene is overexpressed in Urine (27.4), Pancreatic juice (16.4), Serum (6.7), and Skin (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IGKV4-1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IGKV4-1

genes like me logo Genes that share expression patterns with IGKV4-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGKV4-1 Gene

Orthologs for IGKV4-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for IGKV4-1 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia IGKV4-1 31
  • 65 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 63 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
-- 31
  • 59 (a)
OneToMany
-- 31
  • 59 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
-- 31
  • 48 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
-- 31
  • 28 (a)
OneToMany
Species where no ortholog for IGKV4-1 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)
  • Chimpanzee (Pan troglodytes)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for IGKV4-1 Gene

ENSEMBL:
Gene Tree for IGKV4-1 (if available)
TreeFam:
Gene Tree for IGKV4-1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IGKV4-1: view image

Paralogs for IGKV4-1 Gene

genes like me logo Genes that share paralogs with IGKV4-1: view

Variants for IGKV4-1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IGKV4-1 Gene

KV401_HUMAN-P06312
There are several alleles. The sequence shown is that of IMGT allele IGKV4-1*01.

Additional Variant Information for IGKV4-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGKV4-1

No data available for Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGKV4-1 Gene

Disorders for IGKV4-1 Gene

Additional Disease Information for IGKV4-1

No disorders were found for IGKV4-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for IGKV4-1 Gene

Publications for IGKV4-1 Gene

  1. Detection of a unique human V kappa IV germline gene by a cloned cDNA probe. (PMID: 2997713) Marsh P … Gould H (Nucleic acids research 1985) 3 4
  2. Subgroup IV of human immunoglobulin K light chains is encoded by a single germline gene. (PMID: 2997712) Klobeck HG … Zachau HG (Nucleic acids research 1985) 3 4
  3. [The primary structure of a monoclonic immunoglobulin-L-chain of subgroup IV of the kappa type (Bence-Jones protein Len.)]. (PMID: 50995) Schneider M … Hilschmann N (Hoppe-Seyler's Zeitschrift fur physiologische Chemie 1975) 3 4
  4. RNA-binding proteins with basic-acidic dipeptide (BAD) domains self-assemble and aggregate in Alzheimer's disease. (PMID: 29802200) Bishof I … Seyfried NT (The Journal of biological chemistry 2018) 3
  5. Interactomic analysis of REST/NRSF and implications of its functional links with the transcription suppressor TRIM28 during neuronal differentiation. (PMID: 27976729) Lee N … Choi KY (Scientific reports 2016) 3

Products for IGKV4-1 Gene

Sources for IGKV4-1 Gene