SPINT3 serine peptidase inhibitor, Kunitz type 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPINT3provided by HGNC
Official Full Name: serine peptidase inhibitor, Kunitz type 3provided by HGNC
Primary source: HGNC:HGNC:11248
See related: Ensembl:ENSG00000101446 MIM:613941; AllianceGenome:HGNC:11248
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HKIB9
Summary: Predicted to enable receptor antagonist activity and transforming growth factor beta binding activity. Predicted to be involved in negative regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45512461..45515622, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47248342..47251497, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44141101..44144262, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identifies genes on chromosome 20q12-13.1, including the gene encoding this kunitz domain-containing serine protease inhibitor.
Title: A locus on chromosome 20 encompassing genes that are highly expressed in the epididymis.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Voxelwise genome-wide association study (vGWAS). EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: kunitz-type protease inhibitor 3

Names: serine protease inhibitor, Kunitz type, 3

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_006652.2 → NP_006643.1 kunitz-type protease inhibitor 3 precursor

See identical proteins and their annotated locations for NP_006643.1

Status: VALIDATED

Source sequence(s)

AL031663, AY372172, BX088813

Consensus CDS

CCDS46608.1

UniProtKB/Swiss-Prot

A6NCQ6, P49223, Q6UDR8, Q96KK2

Related

ENSP00000217428.6, ENST00000217428.7

Conserved Domains (1) summary

cd00109
Location:34 → 87

KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.