SPINK13 serine peptidase inhibitor Kazal type 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPINK13provided by HGNC
Official Full Name: serine peptidase inhibitor Kazal type 13provided by HGNC
Primary source: HGNC:HGNC:27200
See related: Ensembl:ENSG00000214510 MIM:615205; AllianceGenome:HGNC:27200
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: LiESP6; SPINK5L3; HESPINTOR; HBVDNAPTP1
Summary: Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of acrosome reaction. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 5q32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (148268794..148286255)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (148803308..148820769)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (147648357..147665818)

Chromosome 5 - NC_000005.10 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 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?

Gene set enrichment analysis (GSEA) showed that SPINK13 expression was involved in complement, apical junction, epithelial-mesenchymal transition (EMT), glycolysis, hypoxia, and inflammation signaling pathways.
Title: The Role of Serine Peptidase Inhibitor Kazal Type 13 (SPINK13) as a Clinicopathological and Prognostic Biomarker in Patients with Clear Cell Renal Cell Carcinoma.
The results of the study indicated that SPINK13 could function as a promising therapeutic approach for patients with advanced hepatocellular carcinoma.
Title: Novel urokinase-plasminogen activator inhibitor SPINK13 inhibits growth and metastasis of hepatocellular carcinoma in vivo.
SPINK13 inhibited cell migration and epithelial to mesenchymal transition (EMT). SPINK13 was found to inhibit the expression of urokinase-type plasminogen activator (uPA), while recombinant uPA protein could reverse the inhibitory effect of SPINK13 on OC metastasis.
Title: Downregulation of SPINK13 Promotes Metastasis by Regulating uPA in Ovarian Cancer Cells.

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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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Markers

RH92492 (e-PCR)
- UniSTS:91930

NoName (e-PCR)
- UniSTS:485706

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in negative regulation of acrosome reaction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of peptidase 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: serine protease inhibitor Kazal-type 13

Names: Hepatitis B Virus (HBV) DNA polymerase transactivated protein 1; hepatitis B virus DNA polymerase transactivated human serine protease inhibitor; hepatitis B virus DNA polymerase transactivated serine protease inhibitor; serine peptidase inhibitor, Kazal type 13 (putative); serine protease inhibitor Kazal-type 5-like 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_001040129.3 → NP_001035218.1 serine protease inhibitor Kazal-type 13 precursor

See identical proteins and their annotated locations for NP_001035218.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript.

Source sequence(s)

AC011346, BC128164

Consensus CDS

CCDS43383.1

UniProtKB/Swiss-Prot

A1A4Y2, Q1W4C9

UniProtKB/TrEMBL

A0A9E8LN18, B5KFZ4

Related

ENSP00000381468.4, ENST00000398450.5

Conserved Domains (1) summary

cd00104
Location:53 → 93

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

RNA

NR_138538.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC011346, BC128163

Related

ENST00000511106.5