SERPINA9 serpin family A member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPINA9provided by HGNC
Official Full Name: serpin family A member 9provided by HGNC
Primary source: HGNC:HGNC:15995
See related: Ensembl:ENSG00000170054 MIM:615677; AllianceGenome:HGNC:15995
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: GCET1; SERPINA11; SERPINA11b
Summary: Enables serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Predicted to be located in cytoplasm; extracellular region; and membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in lymph node (RPKM 11.5) and appendix (RPKM 4.1) See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (94462721..94476197, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (88692234..88705726, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (94929058..94942534, complement)

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 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?

Value of GCET1, HGAL (GCET2), and LMO2 in the Determination of Germinal Center Phenotype in Diffuse Large B-cell Lymphoma.
Title: Value of GCET1, HGAL (GCET2), and LMO2 in the Determination of Germinal Center Phenotype in Diffuse Large B-cell Lymphoma.
Diagnostic Utility of the Germinal Center-associated Markers GCET1, HGAL, and LMO2 in Hematolymphoid Neoplasms.
Title: Diagnostic Utility of the Germinal Center-associated Markers GCET1, HGAL, and LMO2 in Hematolymphoid Neoplasms.
serpinA9 was associated with stroke in both whites and blacks
Title: Single nucleotide polymorphisms associated with coronary heart disease predict incident ischemic stroke in the atherosclerosis risk in communities study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene variants associated with ischemic stroke: the cardiovascular health study.
Immunohistochemical expression of centerin further defines the germinal center cell origin of a subgroup of lymphomas.
Title: Expression of the serpin centerin defines a germinal center phenotype in B-cell lymphomas.
Gcet-1 protein expression is restricted to a subset of germinal center B cells, establishing the existence of a distinct heterogeneity among normal and neoplastic germinal center B cells
Title: Gcet1 (centerin), a highly restricted marker for a subset of germinal center-derived lymphomas.
The cloning, expression and molecular characterization of recombinant serpina9 (centerin) are reported.
Title: Molecular characterization of centerin, a germinal centre cell serpin.
Results report the cloning of germinal center B-cell expressed transcripts 1 and 2 (GCET1 and 2), and show that both are expressed in follicular lymphoma and diffuse large B-cell lymphoma with germinal center B-cell differentiation.
Title: Two newly characterized germinal center B-cell-associated genes, GCET1 and GCET2, have differential expression in normal and neoplastic B 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)

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	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of peptidase activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: serpin A9

Names: centerin; germinal center B-cell-expressed transcript 1 protein; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9; serine proteinase inhibitor A11; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9

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_001042518.2 → NP_001035983.2 serpin A9 isoform B precursor

Status: VALIDATED

Source sequence(s)

AL132708

Consensus CDS

CCDS41983.2

UniProtKB/TrEMBL

A0A6Q8JH89

Related

ENSP00000298845.8, ENST00000298845.12
NM_001284275.2 → NP_001271204.2 serpin A9 isoform C

Status: VALIDATED

Source sequence(s)

AL132708

Consensus CDS

CCDS91925.1

UniProtKB/TrEMBL

A0A6Q8LYX2

Related

ENSP00000414092.2, ENST00000448305.6
NM_001284276.2 → NP_001271205.1 serpin A9 isoform D

Status: VALIDATED

Source sequence(s)

AL132708

Consensus CDS

CCDS61542.1

UniProtKB/Swiss-Prot

Q86WD7

Related

ENSP00000409012.2, ENST00000424550.6

Conserved Domains (1) summary

cl00137
Location:1 → 280

SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...
NM_175739.4 → NP_783866.3 serpin A9 isoform A precursor

Status: VALIDATED

Source sequence(s)

AL132708

Consensus CDS

CCDS41982.2

UniProtKB/Swiss-Prot

B4DVH4, B9ZVX3, Q2T9J2, Q6UWP9, Q86WD4, Q86WD5, Q86WD6, Q86WD7, Q86YP6, Q86YP7

Related

ENSP00000501517.1, ENST00000674397.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

94462721..94476197 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011536715.3 → XP_011535017.1 serpin A9 isoform X1

See identical proteins and their annotated locations for XP_011535017.1

UniProtKB/Swiss-Prot

B4DVH4, B9ZVX3, Q2T9J2, Q6UWP9, Q86WD4, Q86WD5, Q86WD6, Q86WD7, Q86YP6, Q86YP7

Conserved Domains (1) summary

cd02056
Location:48 → 411

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, ...
XM_047431341.1 → XP_047287297.1 serpin A9 isoform X2
XM_047431339.1 → XP_047287295.1 serpin A9 isoform X1

UniProtKB/Swiss-Prot

B4DVH4, B9ZVX3, Q2T9J2, Q6UWP9, Q86WD4, Q86WD5, Q86WD6, Q86WD7, Q86YP6, Q86YP7
XM_011536716.3 → XP_011535018.1 serpin A9 isoform X2

See identical proteins and their annotated locations for XP_011535018.1

UniProtKB/TrEMBL

A0A6Q8LYX2

Conserved Domains (1) summary

cl00137
Location:1 → 331

SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...
XM_011536714.3 → XP_011535016.1 serpin A9 isoform X1

See identical proteins and their annotated locations for XP_011535016.1

UniProtKB/Swiss-Prot

B4DVH4, B9ZVX3, Q2T9J2, Q6UWP9, Q86WD4, Q86WD5, Q86WD6, Q86WD7, Q86YP6, Q86YP7

Related

ENSP00000369723.3, ENST00000380365.7

Conserved Domains (1) summary

cd02056
Location:48 → 411

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, ...