HTN1 (histatin 1)

Gene

• Entrez ID: 3346
• Gene name: Histatin 1
• Gene symbol: HTN1
• Synonyms (NCBI Gene): HIS1, Hst1
• Chromosome: 4
• Chromosome location: 4q13.3
• Summary: This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antif

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2245352	hsa-miR-3613-3p	CLIP-seq
MIRT2245353	hsa-miR-4519	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16203048, 34233061
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	3286634, 8336540
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	3286634, 12711380
GO:0005739	Component	Mitochondrion	IDA	35970844
GO:0005739	Component	Mitochondrion	IDA	32225006
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	32225006
GO:0005783	Component	Endoplasmic reticulum	IDA	34233061
GO:0005783	Component	Endoplasmic reticulum	IDA	32225006
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IMP	32225006
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0009893	Process	Positive regulation of metabolic process	IDA	28542418, 32225006, 35970844
GO:0009893	Process	Positive regulation of metabolic process	IMP	32225006
GO:0016020	Component	Membrane	IEA
GO:0022409	Process	Positive regulation of cell-cell adhesion	IDA	25903106, 28751526
GO:0031214	Process	Biomineral tissue development	IEA
GO:0031640	Process	Killing of cells of another organism	IDA	3286634
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0035470	Process	Positive regulation of vascular wound healing	IDA	28751526
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042742	Process	Defense response to bacterium	NAS	3286634, 8336540
GO:0050832	Process	Defense response to fungus	IEA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	3286634
GO:0090303	Process	Positive regulation of wound healing	IDA	18650243, 28542418, 34233061
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IDA	25903106
GO:1903691	Process	Positive regulation of wound healing, spreading of epidermal cells	IDA	28751526

Other IDs

• MIM: 142701
• HGNC: 5283
• e!Ensembl: ENSG00000126550

Protein

• UniProt ID: P15515
• Protein name: Histatin-1 (Hst1) (Histidine-rich protein 1) (Post-PB protein) (PPB) [Cleaved into: His1-(31-57)-peptide (His1 31/57) (His1-(12-38)-peptide) (His1 12/38) (Histatin 2) (Hst2) (Histatin-2)]
• Protein function: Histatins (Hsts) are cationic and histidine-rich secreted peptides mainly synthesized by saliva glands of humans and higher primates (PubMed:3286634, PubMed:3944083). Hsts are considered to be major precursors of the protective proteinaceous str
• Tissue specificity: TISSUE SPECIFICITY: [Histatin-1]: Submandibular and parotid glands. {ECO:0000269|PubMed:17503797}.
• Sequence:

  MKFFVFALVLALMISMISADSHEKRHHGYRRKFHEKHHSHREFPFYGDYGSNYLYDN

• Sequence length: 57

Pathways

KEGG:

Salivary secretion

Reactome:

Antimicrobial peptides

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	11037750		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	19367726		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	17511879	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	BEFREE	27612554		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28112066, 31490104		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	27612554	Inhibit	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	31311993		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	31311993	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	16396677		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28077386		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9094986		★☆☆☆☆ Found in Text Mining only
Lichen planus follicularis	Lichen planopilaris	BEFREE	19932600		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	1682866		★☆☆☆☆ Found in Text Mining only
Pleuropulmonary blastoma	Pleuropulmonary blastoma	BEFREE	19932600		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29890979		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23598299	Inhibit	★☆☆☆☆ Found in Text Mining only