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    SERPINB6 serpin family B member 6 [ Homo sapiens (human) ]

    Gene ID: 5269, updated on 3-Nov-2024

    Summary

    Official Symbol
    SERPINB6provided by HGNC
    Official Full Name
    serpin family B member 6provided by HGNC
    Primary source
    HGNC:HGNC:8950
    See related
    Ensembl:ENSG00000124570 MIM:173321; AllianceGenome:HGNC:8950
    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
    CAP; PI6; PTI; PI-6; SPI3; DFNB91; MSTP057
    Summary
    The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in small intestine (RPKM 25.4), testis (RPKM 22.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SERPINB6 in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (2948159..2971793, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (2817071..2840707, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (2948393..2972027, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23876 Neighboring gene serpin family B member 9 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23879 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2869952-2870526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2875298-2876239 Neighboring gene SERPINB9 antisense RNA 1 Neighboring gene MPRA-validated peak5624 silencer Neighboring gene serpin family B member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2903007-2903508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16837 Neighboring gene hESC enhancers GRCh37_chr6:2907997-2908830 and GRCh37_chr6:2908831-2909664 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:2916616-2917158 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:2921833-2922334 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:2928364-2929022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2929023-2929682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2960063-2960678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2971582-2972106 Neighboring gene SERPINB6-LINC01011 intergenic CAGE-defined mid-level expression enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2988143-2988952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:2988953-2989762 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2989763-2990572 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2990573-2991380 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:2994147-2994331 Neighboring gene long intergenic non-protein coding RNA 1011 Neighboring gene NQO2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16839 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3014049-3014548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3017263-3017764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3017765-3018264 Neighboring gene N-ribosyldihydronicotinamide:quinone dehydrogenase 2 Neighboring gene HIV-1 Tat specific factor 1 pseudogene 2

    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

    Replication interactions

    Interaction Pubs
    Knockdown of serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC111370, DKFZp686I04222

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    serpin B6
    Names
    cytoplasmic antiproteinase
    protease inhibitor 6 (placental thrombin inhibitor)
    serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6
    serpin peptidase inhibitor, clade B (ovalbumin), member 6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_027692.1 RefSeqGene

      Range
      5599..29007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195291.3NP_001182220.2  serpin B6 isoform b

      See identical proteins and their annotated locations for NP_001182220.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional exon in the 5' region, which includes an upstream in-frame AUG start codon, compared to variant 1. The resulting isoform (b) has a longer N-terminus, compared to isoform a. Variants 2 and 9 both encode the same isoform (b).
      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS75386.1
      UniProtKB/TrEMBL
      A0A024QZX5
      Related
      ENSP00000481398.1, ENST00000616722.4
      Conserved Domains (1) summary
      cd19565
      Location:5380
      serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
    2. NM_001271822.2NP_001258751.1  serpin B6 isoform c

      See identical proteins and their annotated locations for NP_001258751.1

      Status: REVIEWED

      Source sequence(s)
      AL133351, BC001394, CX782163, HY169891
      UniProtKB/Swiss-Prot
      P35237
      Conserved Domains (1) summary
      cd19565
      Location:15390
      serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
    3. NM_001271823.2NP_001258752.1  serpin B6 isoform d

      See identical proteins and their annotated locations for NP_001258752.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' exon, which includes an upstream in-frame AUG start codon, compared to variant 1. The resulting isoform (d) has a longer N-terminus, compared to isoform a.
      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS75387.1
      UniProtKB/TrEMBL
      A0A087X1N8
      Related
      ENSP00000484343.1, ENST00000612421.3
      Conserved Domains (1) summary
      cl00137
      Location:23395
      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_001271824.2NP_001258753.1  serpin B6 isoform a

      See identical proteins and their annotated locations for NP_001258753.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an additional segment in the 5' UTR, compared to variant 1. Variants 1, 5-8, and 10 all encode the same isoform (a).
      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS4479.1
      UniProtKB/Swiss-Prot
      B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
      Related
      ENSP00000369919.3, ENST00000380546.7
      Conserved Domains (1) summary
      cd19565
      Location:1376
      serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
    5. NM_001271825.2NP_001258754.1  serpin B6 isoform a

      See identical proteins and their annotated locations for NP_001258754.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' UTR exon, compared to variant 1. Variants 1, 5-8, and 10 all encode the same isoform (a).
      Source sequence(s)
      BC001394, CX755337, DA847833
      Consensus CDS
      CCDS4479.1
      UniProtKB/Swiss-Prot
      B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
      Related
      ENSP00000369896.1, ENST00000380524.5
      Conserved Domains (1) summary
      cd19565
      Location:1376
      serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
    6. NM_001297699.2NP_001284628.1  serpin B6 isoform a

      See identical proteins and their annotated locations for NP_001284628.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an additional segment in the 5' UTR, compared to variant 1. Variants 1, 5-8, and 10 all encode the same isoform (a).
      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS4479.1
      UniProtKB/Swiss-Prot
      B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
      Related
      ENSP00000493936.1, ENST00000643098.1
      Conserved Domains (1) summary
      cd19565
      Location:1376
      serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
    7. NM_001297700.2NP_001284629.1  serpin B6 isoform a

      See identical proteins and their annotated locations for NP_001284629.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains an alternate 5' UTR exon, compared to variant 1. Variants 1, 5-8, and 10 all encode the same isoform (a).
      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS4479.1
      UniProtKB/Swiss-Prot
      B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
      Related
      ENSP00000369891.1, ENST00000380520.6
      Conserved Domains (1) summary
      cd19565
      Location:1376
      serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
    8. NM_001374515.1NP_001361444.1  serpin B6 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variant 2, encodes isoform b.
      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS75386.1
      UniProtKB/TrEMBL
      A0A024QZX5
      Conserved Domains (1) summary
      cd19565
      Location:5380
      serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
    9. NM_001374516.1NP_001361445.1  serpin B6 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 1 and 5-8, encodes isoform a.
      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS4479.1
      UniProtKB/Swiss-Prot
      B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
      Related
      ENSP00000369901.1, ENST00000380529.5
      Conserved Domains (1) summary
      cd19565
      Location:1376
      serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
    10. NM_001374517.1NP_001361446.1  serpin B6 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS93850.1
      UniProtKB/TrEMBL
      A0A2R8YD12
      Related
      ENSP00000494161.1, ENST00000642543.1
      Conserved Domains (1) summary
      cl38926
      Location:11332
      serpin; SERine Proteinase INhibitors (serpin) family
    11. NM_004568.6NP_004559.4  serpin B6 isoform a

      See identical proteins and their annotated locations for NP_004559.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 5-8, and 10 all encode the same isoform (a).
      Source sequence(s)
      AL133351
      Consensus CDS
      CCDS4479.1
      UniProtKB/Swiss-Prot
      B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
      Related
      ENSP00000369912.2, ENST00000380539.7
      Conserved Domains (1) summary
      cd19565
      Location:1376
      serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

    RNA

    1. NR_164657.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133351

    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

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      2948159..2971793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418893.1XP_047274849.1  serpin B6 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YD12
    2. XM_011514672.2XP_011512974.1  serpin B6 isoform X1

      Conserved Domains (1) summary
      cd02058
      Location:82454
      PAI-2; Plasminogen Activator Inhibitor-2 (PAI-2). PAI-2 is a serine protease inhibitor that belongs to the ov-serpin branch of the serpin superfamily. It is is an effective inhibitor of urinary plasminogen activator (urokinase or uPA) and is involved in cell ...
    3. XM_047418885.1XP_047274841.1  serpin B6 isoform X1

    4. XM_047418887.1XP_047274843.1  serpin B6 isoform X1

    5. XM_047418884.1XP_047274840.1  serpin B6 isoform X1

    6. XM_024446465.2XP_024302233.1  serpin B6 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YD12
      Conserved Domains (1) summary
      cl38926
      Location:11332
      serpin; SERine Proteinase INhibitors (serpin) family
    7. XM_047418888.1XP_047274844.1  serpin B6 isoform X1

    8. XM_047418890.1XP_047274846.1  serpin B6 isoform X5

      UniProtKB/TrEMBL
      A0A024QZX5
    9. XM_017010941.2XP_016866430.1  serpin B6 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YD12
      Conserved Domains (1) summary
      cl38926
      Location:11332
      serpin; SERine Proteinase INhibitors (serpin) family
    10. XM_047418889.1XP_047274845.1  serpin B6 isoform X2

      UniProtKB/TrEMBL
      A0A024QZX5
    11. XM_047418883.1XP_047274839.1  serpin B6 isoform X1

    12. XM_047418892.1XP_047274848.1  serpin B6 isoform X3

      UniProtKB/Swiss-Prot
      B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
    13. XM_047418891.1XP_047274847.1  serpin B6 isoform X3

      UniProtKB/Swiss-Prot
      B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      2817071..2840707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355638.1XP_054211613.1  serpin B6 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YD12
    2. XM_054355631.1XP_054211606.1  serpin B6 isoform X1

    3. XM_054355633.1XP_054211608.1  serpin B6 isoform X1

    4. XM_054355634.1XP_054211609.1  serpin B6 isoform X1

    5. XM_054355632.1XP_054211607.1  serpin B6 isoform X1

    6. XM_054355635.1XP_054211610.1  serpin B6 isoform X1

    7. XM_054355639.1XP_054211614.1  serpin B6 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YD12
    8. XM_054355630.1XP_054211605.1  serpin B6 isoform X1

    9. XM_054355636.1XP_054211611.1  serpin B6 isoform X2

      UniProtKB/TrEMBL
      A0A024QZX5
    10. XM_054355637.1XP_054211612.1  serpin B6 isoform X3

      UniProtKB/Swiss-Prot
      B2RBA8, P35237, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7