SPINT4 serine peptidase inhibitor, Kunitz type 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPINT4provided by HGNC
Official Full Name: serine peptidase inhibitor, Kunitz type 4provided by HGNC
Primary source: HGNC:HGNC:16130
See related: Ensembl:ENSG00000149651 MIM:619430; AllianceGenome:HGNC:16130
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: SPINT3; C20orf137; dJ601O1.1
Summary: Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 20q13.12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45722347..45725830)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47458621..47462103)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44350986..44354469)

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

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?

We propose that the evolution of WFDC8 and SPINT4 has been shaped by complex selective scenarios due to the interdependence of variant fitness and ecological variables.
Title: Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 4

Names: epididymis secretory sperm binding protein; serine protease inhibitor, Kunitz type 1; serine protease inhibitor, Kunitz type 4

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_178455.3 → NP_848550.1 kunitz-type protease inhibitor 4 precursor

See identical proteins and their annotated locations for NP_848550.1

Status: VALIDATED

Source sequence(s)

AL109656, AW303354, AY372173, CO408459

Consensus CDS

CCDS33477.1

UniProtKB/Swiss-Prot

Q6UDR6, Q9BQN3

UniProtKB/TrEMBL

A0A384P5R1

Related

ENSP00000279058.3, ENST00000279058.4

Conserved Domains (1) summary

cd00109
Location:39 → 92

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.