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

    Gene ID: 1990, updated on 9-Dec-2024

    Summary

    Official Symbol
    CELA1provided by HGNC
    Official Full Name
    chymotrypsin like elastase 1provided by HGNC
    Primary source
    HGNC:HGNC:3308
    See related
    Ensembl:ENSG00000139610 MIM:130120; AllianceGenome:HGNC:3308
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See CELA1 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51328442..51346679, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51291249..51309485, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51722226..51740463, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51641233-51641734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51641735-51642234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51642235-51642736 Neighboring gene DAZ associated protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51663873-51664373 Neighboring gene small cell adhesion glycoprotein Neighboring gene bridging integrator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6376 Neighboring gene Sharpr-MPRA regulatory region 8177 Neighboring gene uncharacterized LOC105369767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4466 Neighboring gene Sharpr-MPRA regulatory region 12465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6379 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:51765098-51765664 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51773037-51773538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51773539-51774038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51781791-51782290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51784367-51784952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51784953-51785537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6381 Neighboring gene solute carrier family 4 member 8 Neighboring gene NANOG hESC enhancer GRCh37_chr12:51813535-51814036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4469 Neighboring gene SLC4A8 antisense RNA 1

    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?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in elastin catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in exocrine pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pancreas morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tissue remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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

    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.

    mRNA and Protein(s)

    1. NM_001971.6NP_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
      Q5MLF0, Q6DJT0, Q6ISM6, Q9UNI1
      Related
      ENSP00000293636.1, ENST00000293636.2
      Conserved Domains (1) summary
      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: 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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      51328442..51346679 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      51291249..51309485 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)