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SERPINB7 serpin family B member 7 [ Homo sapiens (human) ]

Gene ID: 8710, updated on 1-Jun-2020

Summary

Official Symbol
SERPINB7provided by HGNC
Official Full Name
serpin family B member 7provided by HGNC
Primary source
HGNC:HGNC:13902
See related
Ensembl:ENSG00000166396 MIM:603357
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PPKN; TP55; MEGSIN
Summary
This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Expression
Restricted expression toward skin (RPKM 40.5) See more
Orthologs

Genomic context

See SERPINB7 in Genome Data Viewer
Location:
18q21.33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (63753047..63805376)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61420281..61472610)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene serpin family B member 3 Neighboring gene serpin family B member 11 Neighboring gene serpin family B member 2 Neighboring gene serpin family B member 10

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of serpin peptidase inhibitor, clade B, member 7 (SERPINB7) in peptide-treated PBMCs PubMed
capsid gag Exposure of dendritic cells to HIV-1 CA significantly decreases the presentation of ovalbumin to a SIINFEKL-specific CD8(+) T-cell hybridoma, and that decrease could be overcome by pretreating the cells with INF-gamma PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC120014, MGC120015, DKFZp686D06190

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
serpin B7
Names
mesangium predominant gene, megsin
serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7
serpin peptidase inhibitor, clade B (ovalbumin), member 7

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_034150.1 RefSeqGene

    Range
    5001..57330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040147.2NP_001035237.1  serpin B7 isoform 1

    See identical proteins and their annotated locations for NP_001035237.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AF027866, CD702645, D88575
    Consensus CDS
    CCDS11988.1
    UniProtKB/Swiss-Prot
    O75635
    Related
    ENSP00000337212.2, ENST00000336429.6
    Conserved Domains (1) summary
    cd02059
    Location:4380
    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 ...
  2. NM_001261830.1NP_001248759.1  serpin B7 isoform 1

    See identical proteins and their annotated locations for NP_001248759.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AF027866, AK290673, D88575, DA577978
    Consensus CDS
    CCDS11988.1
    UniProtKB/Swiss-Prot
    O75635
    UniProtKB/TrEMBL
    A8K3Q8
    Related
    ENSP00000444861.1, ENST00000546027.5
    Conserved Domains (1) summary
    cd02059
    Location:4380
    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 ...
  3. NM_001261831.1NP_001248760.1  serpin B7 isoform 2

    See identical proteins and their annotated locations for NP_001248760.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AF027866, AK300828, BP332064, D88575
    Consensus CDS
    CCDS58633.1
    UniProtKB/Swiss-Prot
    O75635
    Related
    ENSP00000444572.1, ENST00000540675.5
    Conserved Domains (1) summary
    cl00137
    Location:4363
    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 ...
  4. NM_003784.4NP_003775.1  serpin B7 isoform 1

    See identical proteins and their annotated locations for NP_003775.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform.
    Source sequence(s)
    AF027866, BC069417, BP332064, D88575
    Consensus CDS
    CCDS11988.1
    UniProtKB/Swiss-Prot
    O75635
    Related
    ENSP00000381101.2, ENST00000398019.7
    Conserved Domains (1) summary
    cd02059
    Location:4380
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    63753047..63805376
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451278.1XP_024307046.1  serpin B7 isoform X1

    Conserved Domains (1) summary
    cd02059
    Location:4380
    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 ...
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