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    FAM111A FAM111 trypsin like peptidase A [ Homo sapiens (human) ]

    Gene ID: 63901, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM111Aprovided by HGNC
    Official Full Name
    FAM111 trypsin like peptidase Aprovided by HGNC
    Primary source
    HGNC:HGNC:24725
    See related
    Ensembl:ENSG00000166801 MIM:615292; AllianceGenome:HGNC:24725
    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
    KCS2; GCLEB
    Summary
    The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
    Expression
    Ubiquitous expression in spleen (RPKM 18.4), lymph node (RPKM 18.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM111A in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (59142856..59155039)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (59092030..59104213)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (58910329..58922512)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4745 Neighboring gene FAM111 trypsin like peptidase B Neighboring gene FAM111A divergent transcript Neighboring gene protein kinase cAMP-dependent type II regulatory subunit beta pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4749 Neighboring gene basic proline-rich protein-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:58938742-58939282 Neighboring gene Sharpr-MPRA regulatory region 11967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:58940291-58941119 Neighboring gene uncharacterized LOC124902675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3362 Neighboring gene deltex E3 ubiquitin ligase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3363

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes. Palani S, et al. Nat Commun, 2024 Mar 7. PMID 38453899, Free PMC Article
    2. [Usefulness of the rheocardiogram for determination of left ventricular contraction periods in patients with chronic circulatory failure]. Mazur-Stazka E. Wiad Lek, 1990 Mar 1-15. PMID 2368401
    3. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Unger S, et al. Am J Hum Genet, 2013 Jun 6. PMID 23684011, Free PMC Article
    4. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. Isojima T, et al. J Bone Miner Res, 2014 Apr. PMID 23996431
    5. Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. Nikkel SM, et al. Clin Genet, 2014 Oct. PMID 24635597

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.
      Title: Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.
    2. FAM111A regulates replication origin activation and cell fitness.
      Title: FAM111A regulates replication origin activation and cell fitness.
    3. N[6] -methyladenosine-modified FAM111A-DT promotes hepatocellular carcinoma growth via epigenetically activating FAM111A.
      Title: N(6) -methyladenosine-modified FAM111A-DT promotes hepatocellular carcinoma growth via epigenetically activating FAM111A.
    4. Human FAM111A inhibits vaccinia virus replication by degrading viral protein I3 and is antagonized by poxvirus host range factor SPI-1.
      Title: Human FAM111A inhibits vaccinia virus replication by degrading viral protein I3 and is antagonized by poxvirus host range factor SPI-1.
    5. IRF2 inhibits ZIKV replication by promoting FAM111A expression to enhance the host restriction effect of RFC3.
      Title: IRF2 inhibits ZIKV replication by promoting FAM111A expression to enhance the host restriction effect of RFC3.
    6. Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
      Title: Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
    7. Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.
      Title: Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.
    8. FAM111A induces nuclear dysfunction in disease and viral restriction.
      Title: FAM111A induces nuclear dysfunction in disease and viral restriction.
    9. FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.
      Title: FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.
    10. These findings reveal a role of FAM111A in overcoming protein obstacles to replication forks.
      Title: FAM111A protects replication forks from protein obstacles via its trypsin-like domain.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22794, KIAA1895, DKFZp686A06175

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of viral genome replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein autoprocessing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein-DNA covalent cross-linking repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in replication fork processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine protease FAM111A
    Names
    family with sequence similarity 111 member A
    protein FAM111A

    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.

    Genomic

    1. NG_042835.1 RefSeqGene

      Range
      5111..17294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142519.3 → NP_001135991.1  serine protease FAM111A

      See identical proteins and their annotated locations for NP_001135991.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
      Source sequence(s)
      AK025319, AK291453, DA502464, DB218857
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000501786.1, ENST00000674617.1
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    2. NM_001142520.3 → NP_001135992.1  serine protease FAM111A

      See identical proteins and their annotated locations for NP_001135992.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    3. NM_001142521.3 → NP_001135993.1  serine protease FAM111A

      See identical proteins and their annotated locations for NP_001135993.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
      Source sequence(s)
      AK025319, AK291453, CR747277, DA502464, DB218857
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    4. NM_001312909.2 → NP_001299838.1  serine protease FAM111A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents the longest transcript. All variants (1-8) encode the same protein.
      Source sequence(s)
      AK025319, AK291453, DA326596, DA502464, DB218857, DB234701
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000501952.1, ENST00000675163.1
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    5. NM_001312910.2 → NP_001299839.1  serine protease FAM111A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
      Source sequence(s)
      AK025319, AK291453, BQ948815, DA326596
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    6. NM_001312911.2 → NP_001299840.1  serine protease FAM111A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
      Source sequence(s)
      AK025319, AK291453, BQ420366
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000436128.2, ENST00000527629.6
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    7. NM_001369457.1 → NP_001356386.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    8. NM_001374804.1 → NP_001361733.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AK092237, AK092953, BC013137, CN288982, CR749358, DA386492
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000434435.1, ENST00000528737.5
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    9. NM_001374848.1 → NP_001361777.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    10. NM_001374849.1 → NP_001361778.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    11. NM_001374850.1 → NP_001361779.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    12. NM_001374851.1 → NP_001361780.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    13. NM_001374852.1 → NP_001361781.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    14. NM_001374853.1 → NP_001361782.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    15. NM_001374854.1 → NP_001361783.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000501771.1, ENST00000676459.1
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    16. NM_001374855.1 → NP_001361784.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000502754.2, ENST00000529985.3
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    17. NM_001374856.1 → NP_001361785.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000507215.1, ENST00000682018.1
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    18. NM_001374857.1 → NP_001361786.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000501617.2, ENST00000675806.2
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    19. NM_001374858.1 → NP_001361787.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    20. NM_001374859.1 → NP_001361788.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    21. NM_001374860.1 → NP_001361789.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    22. NM_001374861.1 → NP_001361790.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    23. NM_001374862.1 → NP_001361791.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    24. NM_001374863.1 → NP_001361792.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    25. NM_001374864.1 → NP_001361793.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    26. NM_001374865.1 → NP_001361794.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    27. NM_001374866.1 → NP_001361795.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    28. NM_001374867.1 → NP_001361796.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000406683.1, ENST00000420244.6
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    29. NM_001374868.1 → NP_001361797.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000432821.2, ENST00000531408.6
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    30. NM_001374869.1 → NP_001361798.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    31. NM_001374870.1 → NP_001361799.1  serine protease FAM111A

      Status: REVIEWED

      Source sequence(s)
      AP001258
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    32. NM_022074.4 → NP_071357.2  serine protease FAM111A

      See identical proteins and their annotated locations for NP_071357.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
      Source sequence(s)
      AK025319, AK291453, DA502464
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000355264.3, ENST00000361723.7
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase domain

    33. NM_198847.3 → NP_942144.1  serine protease FAM111A

      See identical proteins and their annotated locations for NP_942144.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
      Source sequence(s)
      AK025319, AK291453, DA502464, DB218857
      Consensus CDS
      CCDS7973.1
      UniProtKB/Swiss-Prot
      A8K5Y8, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q96PZ2, Q9H5Y1
      UniProtKB/TrEMBL
      A0A804HLI8
      Related
      ENSP00000433154.1, ENST00000533703.1
      Conserved Domains (1) summary
      pfam13365
      Location:370 → 555
      Trypsin_2; Trypsin-like peptidase 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      59142856..59155039
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      59092030..59104213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001369455.1: Suppressed sequence

      Description
      NM_001369455.1: This RefSeq was removed because it appears to be partial at the 5'' end.

    2. NM_001369456.1: Suppressed sequence

      Description
      NM_001369456.1: This RefSeq was removed because it appears to be partial at the 5'' end.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PZ2.2 GenPept UniProtKB/Swiss-Prot:Q96PZ2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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