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    TMPRSS6 transmembrane serine protease 6 [ Homo sapiens (human) ]

    Gene ID: 164656, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMPRSS6provided by HGNC
    Official Full Name
    transmembrane serine protease 6provided by HGNC
    Primary source
    HGNC:HGNC:16517
    See related
    Ensembl:ENSG00000187045 MIM:609862; AllianceGenome:HGNC:16517
    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
    MT2; IRIDA
    Summary
    The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Expression
    Biased expression in liver (RPKM 19.4), stomach (RPKM 1.7) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See TMPRSS6 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37065436..37110536, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37525034..37570488, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37461476..37505753, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268295 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37428845-37429362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37429455-37430120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37439765-37440678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37447950-37448667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37448668-37449384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37456737-37457594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37457595-37458452 Neighboring gene RN7SK pseudogene 214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37459305-37460128 Neighboring gene potassium channel tetramerization domain containing 17 Neighboring gene uncharacterized LOC124905113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37473809-37474310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37476421-37477401 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37483940-37485139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37494011-37494516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37503983-37504484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18943 Neighboring gene interleukin 2 receptor subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18944 Neighboring gene IL2RB promoter Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18946 Neighboring gene IL2RB LTR promoter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37575666-37576526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37576527-37577386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37583391-37584026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37584027-37584660 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37584661-37585296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:37585297-37585930 Neighboring gene C1q and TNF related 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37593748-37594318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37594319-37594888

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Does TMPRSS6 RS855791 polymorphism contribute to iron deficiency in treated celiac disease? Elli L, et al. Am J Gastroenterol, 2015 Jan. PMID 25567183
    2. Very high frequency of TMPRSS6 gene variations in iron deficiency anaemia of patients with polyendocrine autoimmune syndromes: more than a casual association? Canavese C, et al. Br J Haematol, 2013 Apr. PMID 23293981
    3. The A736V TMPRSS6 polymorphism influences hepcidin and iron metabolism in chronic hemodialysis patients: TMPRSS6 and hepcidin in hemodialysis. Pelusi S, et al. BMC Nephrol, 2013 Feb 22. PMID 23433094, Free PMC Article
    4. Matriptase-2 gene (TMPRSS6) variants associate with breast cancer survival, and reduced expression is related to triple-negative breast cancer. Tuhkanen H, et al. Int J Cancer, 2013 Nov 15. PMID 23649491
    5. Novel TMPRSS6 variants and their impact on iron-refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study. Sharma A, et al. Br J Haematol, 2024 Aug. PMID 38977031

    See all (133) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel TMPRSS6 variants and their impact on iron-refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study.
      Title: Novel TMPRSS6 variants and their impact on iron-refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study.
    2. Genetic analysis of TMPRSS6 catalytic domain variants in Mexican patients with iron treatment refractoriness.
      Title: Genetic analysis of TMPRSS6 catalytic domain variants in Mexican patients with iron treatment refractoriness.
    3. A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo.
      Title: A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo.
    4. The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review.
      Title: The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review.
    5. The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study).
      Title: The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study).
    6. Possible effect of OAS1 and TMPRSS6 but not DPP4 and ZNF335 polymorphisms on COVID-19 severity in the Czech population.
      Title: Possible effect of OAS1 and TMPRSS6 but not DPP4 and ZNF335 polymorphisms on COVID-19 severity in the Czech population.
    7. Anaemia and iron deficiency associate with polymorphism TMPRSS6 rs855791 in Brazilian children attending day care centres.
      Title: Anaemia and iron deficiency associate with polymorphism TMPRSS6 rs855791 in Brazilian children attending day care centres.
    8. Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.
      Title: Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.
    9. TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia.
      Title: TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia.
    10. Common Single Nucleotide Polymorphism of TMPRSS6, an Iron Regulation Gene, Associated with Variable Red Blood Cell Indices in Deletional alpha-Globin Genotypes.
      Title: Common Single Nucleotide Polymorphism of TMPRSS6, an Iron Regulation Gene, Associated with Variable Red Blood Cell Indices in Deletional α-Globin Genotypes.
    Submit: New GeneRIF Correction See all GeneRIFs (110)

    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

    Associated conditions

    Description Tests
    Iron-refractory iron deficiency anemia
    MedGen: C0085576 OMIM: 206200 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association analysis of serum iron concentrations.
    EBI GWAS Catalog
    A genome-wide association study of red blood cell traits using the electronic medical record.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.
    EBI GWAS Catalog
    Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
    EBI GWAS Catalog
    Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.
    EBI GWAS Catalog
    Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
    EBI GWAS Catalog
    Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    EBI GWAS Catalog
    Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
    EBI GWAS Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    EBI GWAS Catalog
    Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
    EBI GWAS Catalog
    Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
    EBI GWAS Catalog
    Sequence variants in three loci influence monocyte counts and erythrocyte volume.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog
    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in collagen catabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
    		  
    involved_in intracellular iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in membrane protein proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in multicellular organismal-level iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in self proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protease serine 6
    Names
    matriptase-2
    membrane-bound mosaic serine proteinase matriptase-2
    transmembrane protease, serine 6
    type II transmembrane serine protease 6

    NCBI Reference Sequences (RefSeq)

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    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_012856.2 RefSeqGene

      Range
      4851..49128
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1128

    mRNA and Protein(s)

    1. NM_001289000.2 → NP_001275929.1  transmembrane protease serine 6 isoform 1

      See identical proteins and their annotated locations for NP_001275929.1

      Status: REVIEWED

      Source sequence(s)
      AL022314, AW295507
      Consensus CDS
      CCDS74857.1
      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      Related
      ENSP00000384964.1, ENST00000406856.7
      Conserved Domains (5) summary
      cd00041
      Location:326 → 440
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:486 → 516
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:568 → 822
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam00057
      Location:520 → 557
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam01390
      Location:77 → 177
      SEA; SEA domain

    2. NM_001289001.2 → NP_001275930.1  transmembrane protease serine 6 isoform 3

      See identical proteins and their annotated locations for NP_001275930.1

      Status: REVIEWED

      Source sequence(s)
      AL022314, AW295507, AY358398
      Consensus CDS
      CCDS74856.1
      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      Related
      ENSP00000385453.1, ENST00000406725.6
      Conserved Domains (5) summary
      cd00041
      Location:326 → 440
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:486 → 516
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:568 → 800
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam00057
      Location:520 → 557
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam01390
      Location:77 → 134
      SEA; SEA domain

    3. NM_001374504.1 → NP_001361433.1  transmembrane protease serine 6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022314
      Consensus CDS
      CCDS74856.1
      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      Related
      ENSP00000501573.1, ENST00000676104.1
      Conserved Domains (5) summary
      cd00041
      Location:326 → 440
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:486 → 516
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:568 → 800
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam00057
      Location:520 → 557
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam01390
      Location:77 → 134
      SEA; SEA domain

    4. NM_153609.4 → NP_705837.2  transmembrane protease serine 6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022314
      Consensus CDS
      CCDS74856.1
      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      Related
      ENSP00000334962.6, ENST00000346753.9
      Conserved Domains (5) summary
      cd00041
      Location:326 → 440
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:486 → 516
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:568 → 800
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam00057
      Location:520 → 557
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam01390
      Location:77 → 134
      SEA; SEA domain

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      37065436..37110536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452167.2 → XP_024307935.1  transmembrane protease serine 6 isoform X1

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      Related
      ENSP00000371211.2, ENST00000381792.6
      Conserved Domains (5) summary
      cd00041
      Location:326 → 440
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:486 → 516
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:568 → 822
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam00057
      Location:520 → 557
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam01390
      Location:77 → 177
      SEA; SEA domain

    2. XM_047441170.1 → XP_047297126.1  transmembrane protease serine 6 isoform X3

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8

    3. XM_011529989.3 → XP_011528291.1  transmembrane protease serine 6 isoform X2

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      Conserved Domains (6) summary
      smart00020
      Location:423 → 675
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:342 → 372
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:424 → 678
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam00057
      Location:376 → 413
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam01390
      Location:77 → 134
      SEA; SEA domain
      cl00049
      Location:182 → 296
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    4. XM_047441171.1 → XP_047297127.1  transmembrane protease serine 6 isoform X3

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8

    5. XM_024452168.2 → XP_024307936.1  transmembrane protease serine 6 isoform X1

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      Conserved Domains (5) summary
      cd00041
      Location:326 → 440
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:486 → 516
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:568 → 822
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam00057
      Location:520 → 557
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam01390
      Location:77 → 177
      SEA; SEA domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37525034..37570488 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325197.1 → XP_054181172.1  transmembrane protease serine 6 isoform X1

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8

    2. XM_054325199.1 → XP_054181174.1  transmembrane protease serine 6 isoform X3

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8

    3. XM_054325198.1 → XP_054181173.1  transmembrane protease serine 6 isoform X2

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8

    4. XM_054325200.1 → XP_054181175.1  transmembrane protease serine 6 isoform X3

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8

    5. XM_054325196.1 → XP_054181171.1  transmembrane protease serine 6 isoform X1

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153019.2: Suppressed sequence

      Description
      NM_153019.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IU80.3 GenPept UniProtKB/Swiss-Prot:Q8IU80

    Gene LinkOut

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