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SERPINA12 serpin family A member 12 [ Homo sapiens (human) ]

Gene ID: 145264, updated on 7-Aug-2022

Summary

Official Symbol
SERPINA12provided by HGNC
Official Full Name
serpin family A member 12provided by HGNC
Primary source
HGNC:HGNC:18359
See related
Ensembl:ENSG00000165953 MIM:617471; AllianceGenome:HGNC:18359
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
OL-64
Summary
Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to act upstream of or within negative regulation of gluconeogenesis; positive regulation of signal transduction; and regulation of lipid metabolic process. Predicted to be located in plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward skin (RPKM 63.5) See more
Orthologs
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Genomic context

See SERPINA12 in Genome Data Viewer
Location:
14q32.13
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94487279..94517844, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88716770..88747326, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94953616..94984181, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene serpin family A member 9 Neighboring gene Sharpr-MPRA regulatory region 8049 Neighboring gene uncharacterized LOC124903410 Neighboring gene serpin family A member 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular function inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
serpin A12
Names
serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
vaspin
visceral adipose tissue-derived serine protease inhibitor
visceral adipose-specific SERPIN

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)

  1. NM_001304461.2NP_001291390.1  serpin A12 precursor

    See identical proteins and their annotated locations for NP_001291390.1

    Status: VALIDATED

    Source sequence(s)
    AL132708, AY326420
    Consensus CDS
    CCDS9926.1
    UniProtKB/Swiss-Prot
    Q8IW75
    Related
    ENSP00000451738.1, ENST00000556881.5
    Conserved Domains (1) summary
    cd19558
    Location:40411
    serpinA12_vaspin; serpin family A member 12, visceral adipose tissue-derived serpin
  2. NM_001382267.1NP_001369196.1  serpin A12 precursor

    Status: VALIDATED

    Source sequence(s)
    AL132708
    UniProtKB/Swiss-Prot
    Q8IW75
    Related
    ENSP00000503935.1, ENST00000677451.1
    Conserved Domains (1) summary
    cd19558
    Location:40411
    serpinA12_vaspin; serpin family A member 12, visceral adipose tissue-derived serpin
  3. NM_173850.4NP_776249.1  serpin A12 precursor

    See identical proteins and their annotated locations for NP_776249.1

    Status: VALIDATED

    Source sequence(s)
    AL132708, AL132990, BC040857
    Consensus CDS
    CCDS9926.1
    UniProtKB/Swiss-Prot
    Q8IW75
    Related
    ENSP00000342109.2, ENST00000341228.2
    Conserved Domains (1) summary
    cd19558
    Location:40411
    serpinA12_vaspin; serpin family A member 12, visceral adipose tissue-derived serpin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    94487279..94517844 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    88716770..88747326 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)