CELA1 (chymotrypsin like elastase 1)

Gene

• Entrez ID: 1990
• Gene name: Chymotrypsin like elastase 1
• Gene symbol: CELA1
• Synonyms (NCBI Gene): ELA1
• Chromosome: 12
• Chromosome location: 12q13.13
• 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 elastas

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT883619	hsa-miR-1269	CLIP-seq
MIRT883620	hsa-miR-1269b	CLIP-seq
MIRT883621	hsa-miR-1306	CLIP-seq
MIRT883622	hsa-miR-3664-3p	CLIP-seq
MIRT883623	hsa-miR-4529-3p	CLIP-seq
MIRT883624	hsa-miR-510	CLIP-seq
MIRT883625	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA	21873635
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0006508	Process	Proteolysis	IBA	21873635
GO:0006954	Process	Inflammatory response	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0031017	Process	Exocrine pancreas development	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048771	Process	Tissue remodeling	IEA
GO:0060309	Process	Elastin catabolic process	IEA
GO:0061113	Process	Pancreas morphogenesis	IEA

Other IDs

• MIM: 130120
• HGNC: 3308
• e!Ensembl: ENSG00000139610

Protein

• UniProt ID: Q9UNI1
• Protein name: Chymotrypsin-like elastase family member 1 (EC 3.4.21.36) (Elastase-1) (Pancreatic elastase 1)
• Protein function: Serine proteases that hydrolyze many proteins in addition to elastin.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	19 → 251	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Basal layers of epidermis (at protein level). Not expressed in the pancreas. {ECO:0000269|PubMed:10620133}.
• Sequence:

  MLVLYGHSTQDLPETNARVVGGTEAGRNSWPSQISLQYRSGGSRYHTCGGTLIRQNWVMT
  AAHCVDYQKTFRVVAGDHNLSQNDGTEQYVSVQKIVVHPYWNSDNVAAGYDIALLRLAQS
  VTLNSYVQLGVLPQEGAILANNSPCYITGWGKTKTNGQLAQTLQQAYLPSVDYAICSSSS
  YWGSTVKNTMVCAGGDGVRSGCQGDSGGPLHCLVNGKYSVHGVTSFVSSRGCNVSRKPTV
  FTQVSAYISWINNVIASN

• Sequence length: 258

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243

Associations from Text Mining
Disease Name	Relationship Type	References
Balkan Nephropathy	Associate	24949484
Constipation	Associate	29886024
Cough	Associate	29886024
COVID 19	Associate	39218301
Cystic Fibrosis	Associate	28286044, 29886024, 36280527
Infections	Associate	29886024
Inflammation	Associate	35771568
Intestinal Obstruction	Associate	29886024
Kaposi Varicelliform Eruption	Associate	29886024
Maturity Onset Diabetes of the Young Type 8 with Exocrine Dysfunction	Associate	28286044
Pancreatic Neoplasms	Associate	28286044
Skin Diseases Genetic	Associate	10620133