Details for: SPINK5

Gene ID: 11005

Symbol: SPINK5

Ensembl ID: ENSG00000133710

Description: serine peptidase inhibitor Kazal type 5

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 3.28
    Marker Score: 25,640
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.97
    Marker Score: 25,608
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 2.02
    Marker Score: 5,810
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.94
    Marker Score: 1,318
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.75
    Marker Score: 1,988
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 1.74
    Marker Score: 14,701
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.46
    Marker Score: 1,616
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 863
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.32
    Marker Score: 1,707
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.16
    Marker Score: 6,097
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 1.01
    Marker Score: 243
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,803
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,028
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.98
    Marker Score: 2,002
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.98
    Marker Score: 665
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 503
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 457
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,411
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 371
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.92
    Marker Score: 1,479
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5,216
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,736
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,281
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.82
    Marker Score: 549
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.82
    Marker Score: 5,200
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.8
    Marker Score: 609
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.8
    Marker Score: 10,707
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.79
    Marker Score: 784
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.79
    Marker Score: 343
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.78
    Marker Score: 470
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,264
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.78
    Marker Score: 1,072
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.74
    Marker Score: 3,100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.73
    Marker Score: 11,467
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.72
    Marker Score: 660
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.72
    Marker Score: 598
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.71
    Marker Score: 5,295
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.67
    Marker Score: 4,374
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.66
    Marker Score: 698
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.63
    Marker Score: 402
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.59
    Marker Score: 199
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.56
    Marker Score: 371
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.53
    Marker Score: 620
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.5
    Marker Score: 128
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5
    Marker Score: 210
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.5
    Marker Score: 129
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 470
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.48
    Marker Score: 198
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.47
    Marker Score: 234
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.46
    Marker Score: 133
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 275
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.44
    Marker Score: 1,370
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.43
    Marker Score: 244
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.4
    Marker Score: 122
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.4
    Marker Score: 114
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.4
    Marker Score: 649
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.39
    Marker Score: 783
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.39
    Marker Score: 177
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.37
    Marker Score: 194
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 369
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.36
    Marker Score: 173
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.36
    Marker Score: 5,781
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.35
    Marker Score: 564
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.34
    Marker Score: 91
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.34
    Marker Score: 775
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.34
    Marker Score: 324
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.34
    Marker Score: 106
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.32
    Marker Score: 260
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.3
    Marker Score: 270
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.3
    Marker Score: 539
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.29
    Marker Score: 278
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.29
    Marker Score: 83
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.29
    Marker Score: 91
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.28
    Marker Score: 166
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.28
    Marker Score: 206
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.28
    Marker Score: 125
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.28
    Marker Score: 432
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.28
    Marker Score: 78
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.27
    Marker Score: 652
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.27
    Marker Score: 760
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.26
    Marker Score: 239
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.26
    Marker Score: 499
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.26
    Marker Score: 96
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.25
    Marker Score: 372
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.25
    Marker Score: 8,644
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.23
    Marker Score: 73
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.23
    Marker Score: 72
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.23
    Marker Score: 67
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.22
    Marker Score: 91
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.22
    Marker Score: 130
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.22
    Marker Score: 116
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.22
    Marker Score: 126
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.22
    Marker Score: 103

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Serine Protease Inhibitor Function**: SPINK5 is a potent inhibitor of serine-type endopeptidases, which are enzymes involved in proteolysis and cell signaling pathways. 2. **Epithelial Homeostasis**: SPINK5 is highly expressed in stratified epithelial cells, where it plays a crucial role in maintaining tissue integrity and regulating cell differentiation. 3. **Immune Regulation**: SPINK5 negatively regulates immune responses, including the production of antibacterial peptides and the inhibition of T-cell differentiation. 4. **Developmental Biology**: SPINK5 is involved in the development of various tissues, including the central nervous system, and regulates cell adhesion and migration. **Pathways and Functions:** 1. **Endoplasmic Reticulum (ER) and Endoplasmic Reticulum Membrane (ER-M) Pathways**: SPINK5 is localized to the ER and ER-M, where it regulates protein folding, cell signaling, and ER stress responses. 2. **Cell Differentiation and Proliferation**: SPINK5 modulates cell differentiation and proliferation by regulating the activity of serine-type endopeptidases and other signaling pathways. 3. **Angiogenesis and Vascular Development**: SPINK5 negatively regulates angiogenesis and vascular development by inhibiting the activity of serine-type endopeptidases involved in vascular endothelial growth factor (VEGF) signaling. 4. **Proteolysis and Cell Signaling**: SPINK5 regulates proteolysis and cell signaling by inhibiting the activity of serine-type endopeptidases, which are involved in various cellular processes, including cell migration, adhesion, and differentiation. **Clinical Significance:** 1. **Pompe Disease**: Mutations in the SPINK5 gene have been linked to Pompe disease, a rare genetic disorder characterized by glycogen accumulation in muscles and tissue damage. 2. **Epidermolysis Bullosa**: SPINK5 mutations have also been associated with epidermolysis bullosa, a group of genetic disorders characterized by skin blistering and fragility. 3. **Immune Disorders**: Dysregulation of SPINK5 has been implicated in various immune disorders, including autoimmune diseases and allergic reactions. 4. **Cancer**: SPINK5 has been identified as a tumor suppressor gene, and its dysregulation has been linked to cancer development and progression. In conclusion, the serine protease inhibitor Kazal type 5 (SPINK5) is a multifunctional regulator of epithelial homeostasis and immune response. Its dysregulation has been implicated in various diseases, including Pompe disease, epidermolysis bullosa, and immune disorders. Further research is needed to fully elucidate the mechanisms of SPINK5 and its role in maintaining tissue integrity and regulating immune responses.

Genular Protein ID: 776900364

Symbol: ISK5_HUMAN

Name: Serine protease inhibitor Kazal-type 5

UniProtKB Accession Codes:

Q9NQ38 A8MYE8 B7WPB7 D6REN5 O75770 Q3LX95 Q3LX96 Q3LX97 Q96PP2 Q96PP3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 38 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 23 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MEROPS 15 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 1 PDB 11 PDBsum 6 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 SABIO-RK 1 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10419450

Title: LEKTI, a novel 15-domain type of human serine proteinase inhibitor.

PubMed ID: 10419450

DOI: 10.1074/jbc.274.31.21499

PubMed ID: 10835624

Title: Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

PubMed ID: 10835624

DOI: 10.1038/75977

PubMed ID: 16374478

Title: SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing.

PubMed ID: 16374478

DOI: 10.1038/sj.jid.5700015

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 11511292

Title: The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

PubMed ID: 11511292

DOI: 10.1046/j.1523-1747.2001.01389.x

PubMed ID: 11594460

Title: Purification and partial amino acid sequence of proteins from human epidermal keratinocyte conditioned medium.

PubMed ID: 11594460

DOI: 10.1023/a:1010902815953

PubMed ID: 17596512

Title: LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction.

PubMed ID: 17596512

DOI: 10.1091/mbc.e07-02-0124

PubMed ID: 20533828

Title: New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI.

PubMed ID: 20533828

DOI: 10.1021/pr1003467

PubMed ID: 12684009

Title: Homologous proteins with different folds: the three-dimensional structures of domains 1 and 6 of the multiple Kazal-type inhibitor LEKTI.

PubMed ID: 12684009

DOI: 10.1016/s0022-2836(03)00245-6

PubMed ID: 15366933

Title: The solution structure of a chimeric LEKTI domain reveals a chameleon sequence.

PubMed ID: 15366933

DOI: 10.1021/bi0492399

PubMed ID: 11544479

Title: Gene polymorphism in Netherton and common atopic disease.

PubMed ID: 11544479

DOI: 10.1038/ng728

Sequence Information:

  • Length: 1064
  • Mass: 120714
  • Checksum: 6CBEF39BB9E6D75D
  • Sequence:
    • MKIATVSVLL PLALCLIQDA ASKNEDQEMC HEFQAFMKNG KLFCPQDKKF FQSLDGIMFI 
NKCATCKMIL EKEAKSQKRA RHLARAPKAT APTELNCDDF KKGERDGDFI CPDYYEAVCG 
TDGKTYDNRC ALCAENAKTG SQIGVKSEGE CKSSNPEQDV CSAFRPFVRD GRLGCTREND 
PVLGPDGKTH GNKCAMCAEL FLKEAENAKR EGETRIRRNA EKDFCKEYEK QVRNGRLFCT 
RESDPVRGPD GRMHGNKCAL CAEIFKQRFS EENSKTDQNL GKAEEKTKVK REIVKLCSQY 
QNQAKNGILF CTRENDPIRG PDGKMHGNLC SMCQAYFQAE NEEKKKAEAR ARNKRESGKA 
TSYAELCSEY RKLVRNGKLA CTRENDPIQG PDGKVHGNTC SMCEVFFQAE EEEKKKKEGK 
SRNKRQSKST ASFEELCSEY RKSRKNGRLF CTRENDPIQG PDGKMHGNTC SMCEAFFQQE 
ERARAKAKRE AAKEICSEFR DQVRNGTLIC TREHNPVRGP DGKMHGNKCA MCASVFKLEE 
EEKKNDKEEK GKVEAEKVKR EAVQELCSEY RHYVRNGRLP CTRENDPIEG LDGKIHGNTC 
SMCEAFFQQE AKEKERAEPR AKVKREAEKE TCDEFRRLLQ NGKLFCTREN DPVRGPDGKT 
HGNKCAMCKA VFQKENEERK RKEEEDQRNA AGHGSSGGGG GNTQDECAEY REQMKNGRLS 
CTRESDPVRD ADGKSYNNQC TMCKAKLERE AERKNEYSRS RSNGTGSESG KDTCDEFRSQ 
MKNGKLICTR ESDPVRGPDG KTHGNKCTMC KEKLEREAAE KKKKEDEDRS NTGERSNTGE 
RSNDKEDLCR EFRSMQRNGK LICTRENNPV RGPYGKMHIN KCAMCQSIFD REANERKKKD 
EEKSSSKPSN NAKDECSEFR NYIRNNELIC PRENDPVHGA DGKFYTNKCY MCRAVFLTEA 
LERAKLQEKP SHVRASQEED SPDSFSSLDS EMCKDYRVLP RIGYLCPKDL KPVCGDDGQT 
YNNPCMLCHE NLIRQTNTHI RSTGKCEESS TPGTTAASMP PSDE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.