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KLK7 kallikrein related peptidase 7 [ Homo sapiens (human) ]

Gene ID: 5650, updated on 26-May-2016
Official Symbol
KLK7provided by HGNC
Official Full Name
kallikrein related peptidase 7provided by HGNC
Primary source
HGNC:HGNC:6368
See related
Ensembl:ENSG00000169035 HPRD:05115; MIM:604438; Vega:OTTHUMG00000182917
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
hK7; SCCE; PRSS6
Summary
This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 2011]
Orthologs
Location:
19q13.41
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (50976479..50984064, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51479735..51487320, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene kallikrein related peptidase 5 Neighboring gene uncharacterized LOC105372442 Neighboring gene kallikrein related peptidase 6 Neighboring gene kallikrein related peptidase 8 Neighboring gene kallikrein related peptidase 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metalloendopeptidase activity TAS
Traceable Author Statement
more info
 
peptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
epidermis development TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
positive regulation of antibacterial peptide production IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
epidermal lamellar body IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IMP
Inferred from Mutant Phenotype
more info
PubMed 
Preferred Names
kallikrein-7
Names
kallikrein 7 (chymotryptic, stratum corneum)
kallikrein-related peptidase 7
serine protease 6
signal protein
stratum corneum chymotryptic enzyme
NP_001193982.1
NP_001230055.1
NP_005037.1
NP_644806.1

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.

mRNA and Protein(s)

  1. NM_001207053.1NP_001193982.1  kallikrein-7 isoform 2

    See identical proteins and their annotated locations for NP_001193982.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start site, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF411214, AF411215, AI049783, DA243628, DA307925
    Consensus CDS
    CCDS59414.1
    UniProtKB/Swiss-Prot
    P49862
    Related
    ENSP00000469950, OTTHUMP00000270517, ENST00000597707, OTTHUMT00000464346
    Conserved Domains (2) summary
    smart00020
    Location:2173
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:4176
    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 ...
  2. NM_001243126.1NP_001230055.1  kallikrein-7 isoform 3

    Status: INFERRED

    Description
    Transcript Variant: This variant (4) uses an alternate upstream start codon compared to variant 1. The 5' CDS is in a different reading frame, but this variant lacks an exon in the coding region which results in a frameshift and in-frame 3' CDS, compared to variant 1. The encoded isoform (3) has a unique N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC011483, AF411214, AI049783, AK295313
    UniProtKB/Swiss-Prot
    P49862
    UniProtKB/TrEMBL
    B4DHX9
    Conserved Domains (2) summary
    smart00020
    Location:64238
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:64241
    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 ...
  3. NM_005046.3NP_005037.1  kallikrein-7 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_005037.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AF411214, AI049783, AK295313, DA243628
    Consensus CDS
    CCDS12812.1
    UniProtKB/Swiss-Prot
    P49862
    UniProtKB/TrEMBL
    A0A024R4H6, B4DHX9
    Related
    ENSP00000470538, OTTHUMP00000270515, ENST00000595820, OTTHUMT00000464344
    Conserved Domains (2) summary
    smart00020
    Location:29245
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:30248
    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 ...
  4. NM_139277.2NP_644806.1  kallikrein-7 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_644806.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AA101043, AC011483, AF411214, AI049783, AY601109
    Consensus CDS
    CCDS12812.1
    UniProtKB/Swiss-Prot
    P49862
    UniProtKB/TrEMBL
    A0A024R4H6
    Related
    ENSP00000375683, ENST00000391807
    Conserved Domains (2) summary
    smart00020
    Location:29245
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:30248
    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: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    50976479..50984064 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    51481810..51489320 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)