SERPINB12 serpin family B member 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPINB12provided by HGNC
Official Full Name: serpin family B member 12provided by HGNC
Primary source: HGNC:HGNC:14220
See related: Ensembl:ENSG00000166634 MIM:615662; AllianceGenome:HGNC:14220
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: YUKOPIN
Summary: Enables serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward skin (RPKM 27.9) See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (63519110..63569329)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (63724229..63774441)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (61209602..61236562)

Chromosome 18 - NC_000018.10 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?

Smoking behavior associated upregulation of SERPINB12 promotes proliferation and metastasis via activating WNT signaling in NSCLC.
Title: Smoking behavior associated upregulation of SERPINB12 promotes proliferation and metastasis via activating WNT signaling in NSCLC.
SERPINB12 as a possible marker of steroid dependency in children with eosinophilic esophagitis: A pilot study.
Title: SERPINB12 as a possible marker of steroid dependency in children with eosinophilic esophagitis: A pilot study.
HSLFN12's partner hSerpinB12 may contribute to heterochromatin formation.
Title: Deciphering the three-domain architecture in schlafens and the structures and roles of human schlafen12 and serpinB12 in transcriptional regulation.
SLFN12 regulates human enterocytic differentiation by a pathway involving SERPB12, the deubiquitylases, and Cdx2.
Title: Schlafen 12 Interaction with SerpinB12 and Deubiquitylases Drives Human Enterocyte Differentiation.
SERPINB12 formed a covalent complex with GZMA and inhibited the enzyme with typical serpin slow-binding kinetics. SERPINB12 also inhibited Hepsin. SERPINB12 may function as an endogenous inhibitor of these peptidases.
Title: SERPINB12 Is a Slow-Binding Inhibitor of Granzyme A and Hepsin.
data suggest that SERPINB12, like some other intracellular serpins, may play a vital role in barrier function by providing protection of epithelial cells.
Title: Human SERPINB12 Is an Abundant Intracellular Serpin Expressed in Most Surface and Glandular Epithelia.

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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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Markers

NoName (e-PCR)
- UniSTS:480644

SERPINB12__5385 (e-PCR)
- UniSTS:464539

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	NAS Non-traceable Author Statement more info	PubMed
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
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
involved_in negative regulation of protein catabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cornified envelope	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: serpin B12

Names: serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12; serpin peptidase inhibitor, clade B (ovalbumin), member 12

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_001307928.2 → NP_001294857.1 serpin B12 isoform 1

See identical proteins and their annotated locations for NP_001294857.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC090307

Consensus CDS

CCDS77194.1

UniProtKB/Swiss-Prot

Q96P63

Related

ENSP00000372218.1, ENST00000382768.2

Conserved Domains (1) summary

cd02059
Location:4 → 425

ovalbumin_like; The ovalbumin_like group of serpins contains ovalbumin, the squamous cell carcinoma antigen 1 (SCCA1) and other closely related serpins of clade B of the serpin superfamily. Ovalbumin, the major protein component of avian egg white, is a non-inhibitory ...
NM_080474.2 → NP_536722.1 serpin B12 isoform 2

See identical proteins and their annotated locations for NP_536722.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region compared to variant 1. The encoded idoform (2) is shorter than isoform 1.

Source sequence(s)

AC090307, AF411191

Consensus CDS

CCDS11984.1

UniProtKB/Swiss-Prot

Q3SYB4, Q96P63

Related

ENSP00000269491.1, ENST00000269491.6

Conserved Domains (1) summary

cd02059
Location:4 → 405

ovalbumin_like; The ovalbumin_like group of serpins contains ovalbumin, the squamous cell carcinoma antigen 1 (SCCA1) and other closely related serpins of clade B of the serpin superfamily. Ovalbumin, the major protein component of avian egg white, is a non-inhibitory ...

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_000018.10 Reference GRCh38.p14 Primary Assembly

Range

63519110..63569329

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005266778.4 → XP_005266835.2 serpin B12 isoform X1

Conserved Domains (1) summary

cd02059
Location:16 → 437

ovalbumin_like; The ovalbumin_like group of serpins contains ovalbumin, the squamous cell carcinoma antigen 1 (SCCA1) and other closely related serpins of clade B of the serpin superfamily. Ovalbumin, the major protein component of avian egg white, is a non-inhibitory ...
XM_011526246.2 → XP_011524548.1 serpin B12 isoform X2

Conserved Domains (1) summary

cd02059
Location:11 → 432

ovalbumin_like; The ovalbumin_like group of serpins contains ovalbumin, the squamous cell carcinoma antigen 1 (SCCA1) and other closely related serpins of clade B of the serpin superfamily. Ovalbumin, the major protein component of avian egg white, is a non-inhibitory ...
XM_011526248.2 → XP_011524550.1 serpin B12 isoform X3

See identical proteins and their annotated locations for XP_011524550.1

UniProtKB/Swiss-Prot

Q96P63

Conserved Domains (1) summary

cd02059
Location:4 → 425

ovalbumin_like; The ovalbumin_like group of serpins contains ovalbumin, the squamous cell carcinoma antigen 1 (SCCA1) and other closely related serpins of clade B of the serpin superfamily. Ovalbumin, the major protein component of avian egg white, is a non-inhibitory ...
XM_011526249.1 → XP_011524551.1 serpin B12 isoform X3

See identical proteins and their annotated locations for XP_011524551.1

UniProtKB/Swiss-Prot

Q96P63

Conserved Domains (1) summary

cd02059
Location:4 → 425

ovalbumin_like; The ovalbumin_like group of serpins contains ovalbumin, the squamous cell carcinoma antigen 1 (SCCA1) and other closely related serpins of clade B of the serpin superfamily. Ovalbumin, the major protein component of avian egg white, is a non-inhibitory ...