CASP14 caspase 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CASP14provided by HGNC
Official Full Name: caspase 14provided by HGNC
Primary source: HGNC:HGNC:1502
See related: Ensembl:ENSG00000105141 MIM:605848; AllianceGenome:HGNC:1502
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: ARCI12; caspase-14
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 at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward skin (RPKM 223.1) See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (15049480..15058293)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (15174417..15183232)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (15160291..15169104)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Caspase-14-From Biomolecular Basics to Clinical Approach. A Review of Available Data.
Title: Caspase-14-From Biomolecular Basics to Clinical Approach. A Review of Available Data.
High CASP14 expression is a marker of breast cancer aggressiveness in association with proliferation, TNBC phenotype, and cancer stemness.
Title: Caspase14 expression is associated with triple negative phenotypes and cancer stem cell marker expression in breast cancer patients.
overexpression of S100A7 in A431 skin squamous carcinoma cells significantly promoted cell proliferation in vitro and tumor growth in vivo, whereas it suppressed the expression of GATA-3 and caspase-14
Title: S100A7 acts as a dual regulator in promoting proliferation and suppressing squamous differentiation through GATA-3/caspase-14 pathway in A431 cells.
caspase-14 contributes to retinal pigment epithelium cell barrier disruption under hyperglycemic conditions.
Title: Caspase-14 expression impairs retinal pigment epithelium barrier function: potential role in diabetic macular edema.
Caspase-14 was decreased in inflammatory lesions compared to non-lesion in atopic dermatitis. The amount of caspase-14 in the lesions correlated with clinical severity as determined by eczema area and severity index score and the skin barrier functions.
Title: Pyrrolidone carboxylic acid levels or caspase-14 expression in the corneocytes of lesional skin correlates with clinical severity, skin barrier function and lesional inflammation in atopic dermatitis.
Mesotrypsin generated saposins A-D from prosaposin, and mature caspase-14 contributed to this process by activating mesotrypsinogen to mesotrypsin. Knockdown of these proteases markedly down-regulated saposin A synthesis in skin equivalent models.
Title: Mesotrypsin and caspase-14 participate in prosaposin processing: potential relevance to epidermal permeability barrier formation.
partial loss of caspase 14 is not associated with dedifferentiation in neoplastic lesions of the oral mucosa
Title: Expression of caspase 14 and filaggrin in oral squamous carcinoma.
genetic polymorphisms in AICDA and CASP14 are associated with risk for brain tumor in Korean children.
Title: Genetic variants of AICDA/CASP14 associated with childhood brain tumor.
Suggest caspase-14 is a marker of human skin differentiation during development.
Title: Expression of caspase-14 and keratin-19 in the human epidermis and appendages during fetal skin development.
Results suggest that caspase-14 may interact with GCM1 to participate in syncytiotrophoblast differentiation during placental development.
Title: Caspase-14 suppresses GCM1 acetylation and inhibits placental cell differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital ichthyosis of skin MedGen: C0020758 GeneReviews: Autosomal Recessive Congenital Ichthyosis	Compare labs
Ichthyosis, congenital, autosomal recessive 12 MedGen: C4310621 OMIM: 617320 GeneReviews: Autosomal Recessive Congenital Ichthyosis	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481629

DXS6776 (e-PCR)
- UniSTS:473293

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cornification	TAS Traceable Author Statement more info	PubMed
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in keratinization	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cornified envelope	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in keratin filament	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: caspase-14

Names: CASP-14; apoptosis-related cysteine protease; caspase 14, apoptosis-related cysteine peptidase; caspase 14, apoptosis-related cysteine protease; mini-ICE

NP_036246.1

EC 3.4.22.-

XP_011526163.1

EC 3.4.22.-

XP_054176391.1

EC 3.4.22.-

NCBI Reference Sequences (RefSeq)

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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)

NM_012114.3 → NP_036246.1 caspase-14 precursor

See identical proteins and their annotated locations for NP_036246.1

Status: REVIEWED

Source sequence(s)

AC004699, AK313992, BM840054

Consensus CDS

CCDS12323.1

UniProtKB/Swiss-Prot

O95823, P31944, Q3SYC9

UniProtKB/TrEMBL

A9UFC0, B2CIS9

Related

ENSP00000393417.2, ENST00000427043.4

Conserved Domains (1) summary

cd00032
Location:18 → 242

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

15049480..15058293

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527861.2 → XP_011526163.1 caspase-14 isoform X1

See identical proteins and their annotated locations for XP_011526163.1

Conserved Domains (1) summary

cl00042
Location:18 → 181

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...