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    KLK1 kallikrein 1 [ Homo sapiens (human) ]

    Gene ID: 3816, updated on 9-Dec-2024

    Summary

    Official Symbol
    KLK1provided by HGNC
    Official Full Name
    kallikrein 1provided by HGNC
    Primary source
    HGNC:HGNC:6357
    See related
    Ensembl:ENSG00000167748 MIM:147910; AllianceGenome:HGNC:6357
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hK1; KLKR; Klk6
    Summary
    Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in salivary gland (RPKM 569.2) and pancreas (RPKM 508.7) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KLK1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50819146..50823787, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53908789..53913431, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51322402..51327043, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene multidrug resistance-related protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51305278-51305778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10979 Neighboring gene small nucleolar RNA, C/D box 88C Neighboring gene transmembrane protein 277, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10980 Neighboring gene uncharacterized LOC105372441 Neighboring gene kallikrein related peptidase 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10982 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:51343676-51343863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51347149-51347671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51347672-51348193 Neighboring gene KLK3 upstream enhancer/promoter region Neighboring gene kallikrein related peptidase 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in regulation of systemic arterial blood pressure IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in zymogen activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    kallikrein-1
    Names
    glandular kallikrein 1
    kallikrein 1, renal/pancreas/salivary
    kallikrein serine protease 1
    kidney/pancreas/salivary gland kallikrein
    tissue kallikrein
    NP_002248.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012094.1 RefSeqGene

      Range
      5001..9642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002257.4NP_002248.1  kallikrein-1 preproprotein

      See identical proteins and their annotated locations for NP_002248.1

      Status: REVIEWED

      Source sequence(s)
      BP323011, CA772631, X13561
      Consensus CDS
      CCDS12804.1
      UniProtKB/Swiss-Prot
      P06870, Q66US9, Q86U61, Q8TCV8, Q9BS53, Q9NQU4, Q9UD19, Q9UMJ1
      UniProtKB/TrEMBL
      A0A1L2BPJ1, A0A1R3UCD2
      Related
      ENSP00000301420.1, ENST00000301420.3
      Conserved Domains (1) summary
      cd00190
      Location:25257
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      50819146..50823787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      53908789..53913431 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)