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CELA1 chymotrypsin like elastase family member 1 [ Homo sapiens (human) ]

Gene ID: 1990, updated on 7-May-2016
Official Symbol
CELA1provided by HGNC
Official Full Name
chymotrypsin like elastase family member 1provided by HGNC
Primary source
HGNC:HGNC:3308
See related
Ensembl:ENSG00000139610 HPRD:00553; MIM:130120; Vega:OTTHUMG00000167523
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
ELA1
Summary
Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]
Orthologs
Location:
12q13
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (51328443..51346679, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51722227..51740463, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723983 Neighboring gene small cell adhesion glycoprotein Neighboring gene bridging integrator 2 Neighboring gene uncharacterized LOC105369767 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 6 Neighboring gene solute carrier family 4 member 8 Neighboring gene uncharacterized LOC105369768

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Screening in Jurkat T-cells with a short-hairpin-RNA (shRNA) library identifies elastase-1 (CELA1; serine protease) is important for HIV-1 replication PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
elastin catabolic process IEA
Inferred from Electronic Annotation
more info
 
exocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
pancreas morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
tissue remodeling IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
chymotrypsin-like elastase family member 1
Names
chymotrypsin-like elastase family, member 1
elastase 1, pancreatic
elastase-1
pancreatic elastase 1
NP_001962.3

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_001971.5NP_001962.3  chymotrypsin-like elastase family member 1

    See identical proteins and their annotated locations for NP_001962.3

    Status: REVIEWED

    Source sequence(s)
    AC046135, AF120493, BC069454
    Consensus CDS
    CCDS8812.1
    UniProtKB/Swiss-Prot
    Q9UNI1
    Related
    ENSP00000293636, OTTHUMP00000236087, ENST00000293636, OTTHUMT00000394901
    Conserved Domains (2) summary
    smart00020
    Location:18251
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:19254
    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_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    51328443..51346679 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    51688462..51705900 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)