SERPINA4 serpin family A member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPINA4provided by HGNC
Official Full Name: serpin family A member 4provided by HGNC
Primary source: HGNC:HGNC:8948
See related: Ensembl:ENSG00000100665 MIM:147935; AllianceGenome:HGNC:8948
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: KAL; KST; PI4; KLST; PI-4; kallistatin
Summary: Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Located in extracellular exosome. Biomarker of diabetic retinopathy. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver (RPKM 98.1), gall bladder (RPKM 28.7) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 14q32.13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (94561442..94569906)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (88791396..88799857)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (95027779..95036243)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Kallistatin deficiency exacerbates neuronal damage after cardiac arrest.
Title: Kallistatin deficiency exacerbates neuronal damage after cardiac arrest.
[Relationship of the kallistatin gene expression with male spermatogenic dysfunction and its possible mechanism].
Title: [Relationship of the kallistatin gene expression with male spermatogenic dysfunction and its possible mechanism].
Plasma E-selectin and kallistatin as predictive markers of histologic chorioamnionitis in women with preterm premature rupture of membranes.
Title: Plasma E-selectin and kallistatin as predictive markers of histologic chorioamnionitis in women with preterm premature rupture of membranes.
Clinical Significance of Serum Kallistatin and ENOX1 Levels in Patients with Coronary Heart Disease.
Title: Clinical Significance of Serum Kallistatin and ENOX1 Levels in Patients with Coronary Heart Disease.
Kallistatin in follicular fluid of women with endometriosis and its correlation with IVF outcome.
Title: Kallistatin in follicular fluid of women with endometriosis and its correlation with IVF outcome.
Kallistatin limits abdominal aortic aneurysm by attenuating generation of reactive oxygen species and apoptosis.
Title: Kallistatin limits abdominal aortic aneurysm by attenuating generation of reactive oxygen species and apoptosis.
Serum kallistatin level is decreased in women with preeclampsia.
Title: Serum kallistatin level is decreased in women with preeclampsia.
Role of kallistatin in pediatric patients with pulmonary arterial hypertension.
Title: Role of kallistatin in pediatric patients with pulmonary arterial hypertension.
Low expression of kallistatin was associated with unfavourable prognosis and platinum resistance in high-grade serous (HGSOC). Overexpression of kallistatin significantly inhibited proliferation and metastasis, and enhanced platinum sensitivity and apoptosis in ovarian cancer cells. These findings demonstrate that kallistatin serves as a prognostic predictor and provide a potential therapeutic target for HGSOC
Title: Kallistatin inhibits tumour progression and platinum resistance in high-grade serous ovarian cancer.
patients with less severe excretory pancreatic insufficiency and lipid profile disorders had higher kallistatin level than the control group
Title: Kallistatin level in patients with combination of chronic pancreatitis and aterosclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (41)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1311 (e-PCR)
- UniSTS:59443

RH103828 (e-PCR)
- UniSTS:98153

RH65904 (e-PCR)
- UniSTS:26734

RH68729 (e-PCR)
- UniSTS:23014

SHGC-81713 (e-PCR)
- UniSTS:170237

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in platelet dense granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: kallistatin

Names: kallikrein inhibitor; peptidase inhibitor 4; protease inhibitor 4 (kallistatin); serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4; serpin A4; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4; sserpin family A member 4; testicular secretory protein Li 22

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_001289032.2 → NP_001275961.1 kallistatin isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK309586, BC014992

UniProtKB/TrEMBL

B2R815

Conserved Domains (1) summary

cd02056
Location:91 → 458

alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
NM_001289033.2 → NP_001275962.1 kallistatin isoform 2 precursor

See identical proteins and their annotated locations for NP_001275962.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform 2.

Source sequence(s)

BC014992, BX248009, DA036536, DA637776

Consensus CDS

CCDS9927.1

UniProtKB/Swiss-Prot

P29622, Q53XB5, Q86TR9, Q96BZ5

UniProtKB/TrEMBL

A0A024R6I9, B2R815

Related

ENSP00000298841.5, ENST00000298841.5

Conserved Domains (1) summary

cd02056
Location:54 → 421

alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
NM_006215.4 → NP_006206.2 kallistatin isoform 2 precursor

See identical proteins and their annotated locations for NP_006206.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform 2.

Source sequence(s)

BC014992, BX248760, DA036536

Consensus CDS

CCDS9927.1

UniProtKB/Swiss-Prot

P29622, Q53XB5, Q86TR9, Q96BZ5

UniProtKB/TrEMBL

A0A024R6I9, B2R815

Related

ENSP00000450838.1, ENST00000557004.6

Conserved Domains (1) summary

cd02056
Location:54 → 421

alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...