CASP14 (caspase 14)

Gene

• Entrez ID: 23581
• Gene name: Caspase 14
• Gene symbol: CASP14
• Synonyms (NCBI Gene): ARCI12, caspase-14
• Disease Acronyms (UniProt): ARCI12
• Chromosome: 19
• Chromosome location: 19p13.12
• Summary: This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs769277893	CA>-	Pathogenic, likely-benign	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016842	hsa-miR-335-5p	Microarray	18185580
MIRT438335	hsa-miR-185-5p	Luciferase reporter assay, Western blot	24070899
MIRT438335	hsa-miR-185-5p	Luciferase reporter assay, Western blot	24070899
MIRT863749	hsa-let-7a	CLIP-seq
MIRT863750	hsa-let-7b	CLIP-seq
MIRT863751	hsa-let-7c	CLIP-seq
MIRT863752	hsa-let-7d	CLIP-seq
MIRT863753	hsa-let-7e	CLIP-seq
MIRT863754	hsa-let-7f	CLIP-seq
MIRT863755	hsa-let-7g	CLIP-seq
MIRT863756	hsa-let-7i	CLIP-seq
MIRT863757	hsa-miR-1182	CLIP-seq
MIRT863758	hsa-miR-1224-3p	CLIP-seq
MIRT863759	hsa-miR-1252	CLIP-seq
MIRT863760	hsa-miR-1260	CLIP-seq
MIRT863761	hsa-miR-1260b	CLIP-seq
MIRT863762	hsa-miR-1270	CLIP-seq
MIRT863763	hsa-miR-1273f	CLIP-seq
MIRT863764	hsa-miR-1275	CLIP-seq
MIRT863765	hsa-miR-1280	CLIP-seq
MIRT863766	hsa-miR-1343	CLIP-seq
MIRT863767	hsa-miR-138	CLIP-seq
MIRT863768	hsa-miR-143	CLIP-seq
MIRT863769	hsa-miR-192	CLIP-seq
MIRT863770	hsa-miR-193a-5p	CLIP-seq
MIRT863771	hsa-miR-196a	CLIP-seq
MIRT863772	hsa-miR-196b	CLIP-seq
MIRT863773	hsa-miR-198	CLIP-seq
MIRT863774	hsa-miR-215	CLIP-seq
MIRT863775	hsa-miR-302a	CLIP-seq
MIRT863776	hsa-miR-302b	CLIP-seq
MIRT863777	hsa-miR-302c	CLIP-seq
MIRT863778	hsa-miR-302d	CLIP-seq
MIRT863779	hsa-miR-302e	CLIP-seq
MIRT863780	hsa-miR-3180-5p	CLIP-seq
MIRT863781	hsa-miR-3190	CLIP-seq
MIRT863782	hsa-miR-3200-3p	CLIP-seq
MIRT863783	hsa-miR-3529	CLIP-seq
MIRT863784	hsa-miR-3606	CLIP-seq
MIRT863785	hsa-miR-3647-3p	CLIP-seq
MIRT863786	hsa-miR-3663-5p	CLIP-seq
MIRT863787	hsa-miR-3681	CLIP-seq
MIRT863788	hsa-miR-3689a-3p	CLIP-seq
MIRT863789	hsa-miR-3689c	CLIP-seq
MIRT863790	hsa-miR-3691-3p	CLIP-seq
MIRT863791	hsa-miR-372	CLIP-seq
MIRT863792	hsa-miR-373	CLIP-seq
MIRT863793	hsa-miR-378g	CLIP-seq
MIRT863794	hsa-miR-379	CLIP-seq
MIRT863795	hsa-miR-3934	CLIP-seq
MIRT863796	hsa-miR-412	CLIP-seq
MIRT863797	hsa-miR-4252	CLIP-seq
MIRT863798	hsa-miR-4267	CLIP-seq
MIRT863799	hsa-miR-4282	CLIP-seq
MIRT863800	hsa-miR-4290	CLIP-seq
MIRT863801	hsa-miR-431	CLIP-seq
MIRT863802	hsa-miR-4423-5p	CLIP-seq
MIRT863803	hsa-miR-4437	CLIP-seq
MIRT863804	hsa-miR-4451	CLIP-seq
MIRT863805	hsa-miR-4453	CLIP-seq
MIRT863806	hsa-miR-4458	CLIP-seq
MIRT863807	hsa-miR-4464	CLIP-seq
MIRT863808	hsa-miR-4470	CLIP-seq
MIRT863809	hsa-miR-4500	CLIP-seq
MIRT863810	hsa-miR-4504	CLIP-seq
MIRT863811	hsa-miR-451b	CLIP-seq
MIRT863812	hsa-miR-4525	CLIP-seq
MIRT863813	hsa-miR-4531	CLIP-seq
MIRT863814	hsa-miR-4538	CLIP-seq
MIRT863815	hsa-miR-4650-3p	CLIP-seq
MIRT863816	hsa-miR-4662a-3p	CLIP-seq
MIRT863817	hsa-miR-4665-5p	CLIP-seq
MIRT863818	hsa-miR-4674	CLIP-seq
MIRT863819	hsa-miR-4696	CLIP-seq
MIRT863820	hsa-miR-4708-5p	CLIP-seq
MIRT863821	hsa-miR-4712-5p	CLIP-seq
MIRT863822	hsa-miR-4723-5p	CLIP-seq
MIRT863823	hsa-miR-4728-5p	CLIP-seq
MIRT863824	hsa-miR-4748	CLIP-seq
MIRT863825	hsa-miR-4761-5p	CLIP-seq
MIRT863826	hsa-miR-4770	CLIP-seq
MIRT863827	hsa-miR-4786-3p	CLIP-seq
MIRT863828	hsa-miR-4793-5p	CLIP-seq
MIRT863829	hsa-miR-512-3p	CLIP-seq
MIRT863830	hsa-miR-519a	CLIP-seq
MIRT863831	hsa-miR-519b-3p	CLIP-seq
MIRT863832	hsa-miR-519c-3p	CLIP-seq
MIRT863833	hsa-miR-520a-3p	CLIP-seq
MIRT863834	hsa-miR-520a-5p	CLIP-seq
MIRT863835	hsa-miR-520b	CLIP-seq
MIRT863836	hsa-miR-520c-3p	CLIP-seq
MIRT863837	hsa-miR-520d-3p	CLIP-seq
MIRT863838	hsa-miR-520e	CLIP-seq
MIRT863839	hsa-miR-522	CLIP-seq
MIRT863840	hsa-miR-525-5p	CLIP-seq
MIRT863841	hsa-miR-532-3p	CLIP-seq
MIRT863842	hsa-miR-548p	CLIP-seq
MIRT863843	hsa-miR-549	CLIP-seq
MIRT863844	hsa-miR-552	CLIP-seq
MIRT863845	hsa-miR-571	CLIP-seq
MIRT863846	hsa-miR-620	CLIP-seq
MIRT863847	hsa-miR-625	CLIP-seq
MIRT863848	hsa-miR-7	CLIP-seq
MIRT863849	hsa-miR-766	CLIP-seq
MIRT863850	hsa-miR-770-5p	CLIP-seq
MIRT863851	hsa-miR-98	CLIP-seq
MIRT1546168	hsa-miR-1200	CLIP-seq
MIRT863758	hsa-miR-1224-3p	CLIP-seq
MIRT863760	hsa-miR-1260	CLIP-seq
MIRT863761	hsa-miR-1260b	CLIP-seq
MIRT863765	hsa-miR-1280	CLIP-seq
MIRT1546169	hsa-miR-3199	CLIP-seq
MIRT1546170	hsa-miR-4324	CLIP-seq
MIRT1546171	hsa-miR-4438	CLIP-seq
MIRT1546172	hsa-miR-5095	CLIP-seq
MIRT863841	hsa-miR-532-3p	CLIP-seq
MIRT1546173	hsa-miR-544b	CLIP-seq
MIRT1956062	hsa-miR-10a	CLIP-seq
MIRT1956063	hsa-miR-10b	CLIP-seq
MIRT1546168	hsa-miR-1200	CLIP-seq
MIRT863758	hsa-miR-1224-3p	CLIP-seq
MIRT863760	hsa-miR-1260	CLIP-seq
MIRT863761	hsa-miR-1260b	CLIP-seq
MIRT863765	hsa-miR-1280	CLIP-seq
MIRT1546169	hsa-miR-3199	CLIP-seq
MIRT863786	hsa-miR-3663-5p	CLIP-seq
MIRT1546170	hsa-miR-4324	CLIP-seq
MIRT1546171	hsa-miR-4438	CLIP-seq
MIRT863821	hsa-miR-4712-5p	CLIP-seq
MIRT863828	hsa-miR-4793-5p	CLIP-seq
MIRT1546172	hsa-miR-5095	CLIP-seq
MIRT863841	hsa-miR-532-3p	CLIP-seq
MIRT1546173	hsa-miR-544b	CLIP-seq
MIRT863850	hsa-miR-770-5p	CLIP-seq
MIRT1546168	hsa-miR-1200	CLIP-seq
MIRT863758	hsa-miR-1224-3p	CLIP-seq
MIRT2193722	hsa-miR-1227	CLIP-seq
MIRT863760	hsa-miR-1260	CLIP-seq
MIRT863761	hsa-miR-1260b	CLIP-seq
MIRT863765	hsa-miR-1280	CLIP-seq
MIRT2193723	hsa-miR-1301	CLIP-seq
MIRT863766	hsa-miR-1343	CLIP-seq
MIRT1546169	hsa-miR-3199	CLIP-seq
MIRT2193724	hsa-miR-371-5p	CLIP-seq
MIRT863793	hsa-miR-378g	CLIP-seq
MIRT1546170	hsa-miR-4324	CLIP-seq
MIRT863803	hsa-miR-4437	CLIP-seq
MIRT1546171	hsa-miR-4438	CLIP-seq
MIRT2193725	hsa-miR-4448	CLIP-seq
MIRT863810	hsa-miR-4504	CLIP-seq
MIRT863811	hsa-miR-451b	CLIP-seq
MIRT2193726	hsa-miR-455-5p	CLIP-seq
MIRT863818	hsa-miR-4674	CLIP-seq
MIRT2193727	hsa-miR-4685-5p	CLIP-seq
MIRT2193728	hsa-miR-4715-3p	CLIP-seq
MIRT863825	hsa-miR-4761-5p	CLIP-seq
MIRT863828	hsa-miR-4793-5p	CLIP-seq
MIRT2193729	hsa-miR-502-5p	CLIP-seq
MIRT2193730	hsa-miR-5047	CLIP-seq
MIRT1546172	hsa-miR-5095	CLIP-seq
MIRT2193731	hsa-miR-526b	CLIP-seq
MIRT863841	hsa-miR-532-3p	CLIP-seq
MIRT1546173	hsa-miR-544b	CLIP-seq
MIRT863843	hsa-miR-549	CLIP-seq
MIRT863757	hsa-miR-1182	CLIP-seq
MIRT863770	hsa-miR-193a-5p	CLIP-seq
MIRT863801	hsa-miR-431	CLIP-seq
MIRT863802	hsa-miR-4423-5p	CLIP-seq
MIRT2193722	hsa-miR-1227	CLIP-seq
MIRT1546169	hsa-miR-3199	CLIP-seq
MIRT1546171	hsa-miR-4438	CLIP-seq
MIRT2193726	hsa-miR-455-5p	CLIP-seq
MIRT2193728	hsa-miR-4715-3p	CLIP-seq
MIRT1546172	hsa-miR-5095	CLIP-seq
MIRT863757	hsa-miR-1182	CLIP-seq
MIRT863770	hsa-miR-193a-5p	CLIP-seq
MIRT863801	hsa-miR-431	CLIP-seq
MIRT863802	hsa-miR-4423-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	10203698
GO:0005515	Function	Protein binding	IPI	24872419, 25416956
GO:0005634	Component	Nucleus	IDA	23377137
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	23377137
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0008544	Process	Epidermis development	TAS	10203698
GO:0031424	Process	Keratinization	TAS	18309324
GO:0045095	Component	Keratin filament	IEA
GO:0070268	Process	Cornification	TAS	18309324
GO:0097194	Process	Execution phase of apoptosis	IEA
GO:0097200	Function	Cysteine-type endopeptidase activity involved in execution phase of apoptosis	IBA	21873635

Other IDs

• MIM: 605848
• HGNC: 1502
• e!Ensembl: ENSG00000105141

Protein

• UniProt ID: P31944
• Protein name: Caspase-14 (CASP-14) (EC 3.4.22.-) [Cleaved into: Caspase-14 subunit p17, mature form; Caspase-14 subunit p10, mature form; Caspase-14 subunit p20, intermediate form; Caspase-14 subunit p8, intermediate form]
• Protein function: Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum (PubMed:15556625). Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00656	Peptidase_C14	18 → 241		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in keratinocytes of adult skin suprabasal layers (from spinous layers to the stratum granulosum and stratum corneum) (at protein level). Expressed in keratinocytes of hair shaft and sebaceous glands (at protein level). In pso
• Sequence:

  MSNPRSLEEEKYDMSGARLALILCVTKAREGSEEDLDALEHMFRQLRFESTMKRDPTAEQ
  FQEELEKFQQAIDSREDPVSCAFVVLMAHGREGFLKGEDGEMVKLENLFEALNNKNCQAL
  RAKPKVYIIQACRGEQRDPGETVGGDEIVMVIKDSPQTIPTYTDALHVYSTVEGYIAYRH
  DQKGSCFIQTLVDVFTKRKGHILELLTEVTRRMAEAELVQEGKARKTNPEIQSTLRKRLY
  LQ

• Sequence length: 242

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Congenital ichthyosis	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12	rs118203935, rs118203936, rs118203937, rs199422216, rs199422217, rs1561831582, rs28940268, rs28940269, rs28940568, rs28940270, rs387906284, rs387906285, rs137853289, rs267606622, rs121434232, rs121434233, rs121434234, rs137852931, rs137852932, rs137853131, rs387906349, rs137853023, rs137853024, rs2139023508, rs121918719, rs121918728, rs121918716, rs121918717, rs121918718, rs121918720, rs121918721, rs121918722, rs121918723, rs2139018490, rs121918725, rs121918726, rs121918727, rs121918730, rs121918731, rs121918732, rs398122900, rs397514522, rs398122901, rs878853259, rs397514523, rs397514524, rs397514525, rs143473912, rs398122902, rs398122903, rs398122904, rs398122905, rs397514526, rs397514527, rs397514528, rs397514529, rs1598181810, rs397514532, rs199766569, rs397514533, rs786205120, rs745480657, rs1355284797, rs1561864453, rs1561853847, rs587776996, rs762679102, rs141340759, rs587777262, rs587777263, rs199545653, rs863223405, rs370031870, rs864321707, rs753798494, rs114863111, rs11891778, rs780990272, rs886039654, rs752509098, rs750066836, rs142634031, rs886041250, rs886041950, rs200491579, rs147149459, rs531800013, rs781006633, rs370356566, rs201868387, rs1057517836, rs904122716, rs151054393, rs531650682, rs139208806, rs959284348, rs1170446813, rs781053760, rs369445146, rs922934422, rs202128350, rs745368359, rs139375856, rs199503269, rs1064794422, rs367699137, rs762667660, rs1114167426, rs1114167425, rs1114167424, rs762765702, rs1131692156, rs1555643304, rs775524204, rs1554138062, rs771820315, rs1555306238, rs760429286, rs1553520468, rs774363396, rs1555305836, rs1220151696, rs1555306172, rs140000324, rs752349623, rs1555305725, rs1555305783, rs1555306113, rs779287673, rs1437822062, rs776068111, rs1555306117, rs1322979131, rs199678720, rs1211601030, rs147916609, rs1156392436, rs773303931, rs1044429462, rs1555306089, rs1555306102, rs1296165092, rs1199770893, rs972054392, rs201432046, rs758568142, rs118091316, rs369811073, rs1568357749, rs773886415, rs1382435790, rs770500550, rs776275777, rs1568360348, rs1568360387, rs1568360475, rs1568360526, rs1568360554, rs1568361250, rs751937099, rs768098854, rs767352854, rs755885838, rs370734976, rs1568362605, rs1568362644, rs769229606, rs201129618, rs1568364101, rs1568364107, rs1568364117, rs200581968, rs144961059, rs1568365205, rs1167473603, rs1360295659, rs1187032187, rs1559120651, rs200806519, rs1566380103, rs1182312612, rs761068277, rs764355087, rs1559134341, rs1561831443, rs373501601, rs1373230987, rs533584507, rs1582086407, rs746575171, rs538068583, rs1566377068, rs1202280089, rs1381998109, rs543521135, rs1247223599, rs773777400, rs1230140208, rs1566381457, rs1567644030, rs1567980596, rs746723399, rs1028050037, rs1567985231, rs1567985261, rs1311967606, rs1296095311, rs765682032, rs1568005543, rs1449980834, rs745942843, rs112419023, rs1566378425, rs1581262988, rs1581265561, rs775903553, rs900769357, rs371608909, rs777992589, rs1581271869, rs1581272003, rs1212378071, rs1027052344, rs375688767, rs1581272834, rs886060339, rs1581273254, rs1452328130, rs1581269752, rs1581271844, rs1207879599, rs1582078740, rs766188849, rs753687060, rs1594571148, rs1598181642, rs1574984736, rs1596772428, rs867950920, rs1594568541, rs760428119

Unknown
Disease term	Disease name	Evidence	References	Source
Bronchitis	Bronchitis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Neoplasms	Associate	23408445, 29287594
Breast Neoplasms	Associate	29287594
Carcinoma Squamous Cell	Associate	24070899, 36456645
Cystic Fibrosis	Stimulate	32927759
Dermatitis Atopic	Inhibit	21211653, 24743736
Diabetic Retinopathy	Associate	25121097
Glaucoma Open Angle	Associate	21203405
Glioblastoma	Associate	35538663
Glucose Intolerance	Associate	25121097
Head and Neck Neoplasms	Stimulate	35409074
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	25121097
Kaposi Varicelliform Eruption	Associate	21211653
Macular dystrophy retinal 1 North Carolina type	Associate	25121097
Macular Edema	Associate	25121097
Melanoma Cutaneous Malignant	Associate	19626699
Neoplasm Invasiveness	Inhibit	23645350
Neoplasm Metastasis	Associate	36375658
Neoplasms	Inhibit	23645350, 35538663
Psoriasis	Inhibit	24743736
Scleritis	Associate	36930145
Squamous Cell Carcinoma of Head and Neck	Associate	38420803
Uterine Cervical Dysplasia	Inhibit	23645350
Uterine Cervical Neoplasms	Inhibit	23645350