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    FAM111B FAM111 trypsin like peptidase B [ Homo sapiens (human) ]

    Gene ID: 374393, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM111Bprovided by HGNC
    Official Full Name
    FAM111 trypsin like peptidase Bprovided by HGNC
    Primary source
    HGNC:HGNC:24200
    See related
    Ensembl:ENSG00000189057 MIM:615584; AllianceGenome:HGNC:24200
    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
    CANP; POIKTMP
    Summary
    This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]
    Expression
    Broad expression in lymph node (RPKM 4.9), appendix (RPKM 2.8) and 17 other tissues See more
    Orthologs
    all
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    Genomic context

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    See FAM111B in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (59107237..59127412)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (59056411..59076586)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (58874710..58894885)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glycine-N-acyltransferase like 1B Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:58862519-58863110 Neighboring gene uncharacterized LOC105369315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:58869993-58870493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4745 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 FAM111 trypsin like peptidase A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4748

    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. FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening. Rhoda C, et al. Cancer Treat Res Commun, 2023. PMID 36610347
    2. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Mercier S, et al. Am J Hum Genet, 2013 Dec 5. PMID 24268661, Free PMC Article
    3. Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases. Arowolo A, et al. Exp Dermatol, 2022 May. PMID 35122327, Free PMC Article
    4. FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Seo A, et al. Pancreas, 2016 Jul. PMID 26495788, Free PMC Article
    5. Clinicopathological features, prognostic significance, and associated tumor cell functions of family with sequence similarity 111 member B in pancreatic adenocarcinoma. Gong Q, et al. J Clin Lab Anal, 2022 Dec. PMID 36408702, Free PMC Article

    See all (45) 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. Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance.
      Title: Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance.
    3. Family with sequence similarity 111 member B contributes to tumor growth and metastasis by mediating cell proliferation, invasion, and EMT via transforming acidic coiled-coil protein 3/PI3K/AKT signaling pathway in hepatocellular carcinoma.
      Title: Family with sequence similarity 111 member B contributes to tumor growth and metastasis by mediating cell proliferation, invasion, and EMT via transforming acidic coiled-coil protein 3/PI3K/AKT signaling pathway in hepatocellular carcinoma.
    4. Silencing of FAM111B inhibited proliferation, migration and invasion of hepatoma cells through activating p53 pathway.
      Title: Silencing of FAM111B inhibited proliferation, migration and invasion of hepatoma cells through activating p53 pathway.
    5. Silencing of FAM111B inhibits tumor growth and promotes apoptosis by decreasing AKT activity in ovarian cancer.
      Title: Silencing of FAM111B inhibits tumor growth and promotes apoptosis by decreasing AKT activity in ovarian cancer.
    6. FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening.
      Title: FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening.
    7. Clinicopathological features, prognostic significance, and associated tumor cell functions of family with sequence similarity 111 member B in pancreatic adenocarcinoma.
      Title: Clinicopathological features, prognostic significance, and associated tumor cell functions of family with sequence similarity 111 member B in pancreatic adenocarcinoma.
    8. DNMT3B-mediated FAM111B methylation promotes papillary thyroid tumor glycolysis, growth and metastasis.
      Title: DNMT3B-mediated FAM111B methylation promotes papillary thyroid tumor glycolysis, growth and metastasis.
    9. YY1-Induced Transcriptional Activation of FAM111B Contributes to the Malignancy of Breast Cancer.
      Title: YY1-Induced Transcriptional Activation of FAM111B Contributes to the Malignancy of Breast Cancer.
    10. Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.
      Title: Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    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 
    Process Evidence Code Pubs
    involved_in DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serine protease FAM111B
    Names
    cancer-associated nucleoprotein
    family with sequence similarity 111 member B

    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_034129.1 RefSeqGene

      Range
      5053..25228
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142703.2 → NP_001136175.1  serine protease FAM111B isoform b

      See identical proteins and their annotated locations for NP_001136175.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks the exon containing the translation start codon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform.
      Source sequence(s)
      AY457926, BG613098, BM674379
      Consensus CDS
      CCDS44611.1
      UniProtKB/TrEMBL
      B4E0T6
      Related
      ENSP00000432875.1, ENST00000529618.5
      Conserved Domains (1) summary
      pfam13365
      Location:445 → 634
      Trypsin_2; Trypsin-like peptidase domain

    2. NM_001142704.2 → NP_001136176.1  serine protease FAM111B isoform b

      See identical proteins and their annotated locations for NP_001136176.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate 5' UTR exon and the exon containing the translation start codon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform.
      Source sequence(s)
      AY457926, BM674379, DC353500
      Consensus CDS
      CCDS44611.1
      UniProtKB/TrEMBL
      B4E0T6
      Related
      ENSP00000393855.1, ENST00000411426.1
      Conserved Domains (1) summary
      pfam13365
      Location:445 → 634
      Trypsin_2; Trypsin-like peptidase domain

    3. NM_198947.4 → NP_945185.1  serine protease FAM111B isoform a

      See identical proteins and their annotated locations for NP_945185.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AY457926, BM674379
      Consensus CDS
      CCDS7972.1
      UniProtKB/Swiss-Prot
      B4E2G2, Q6P661, Q6SJ93
      UniProtKB/TrEMBL
      B4E0T6
      Related
      ENSP00000341565.3, ENST00000343597.4
      Conserved Domains (1) summary
      pfam13365
      Location:475 → 664
      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
      59107237..59127412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      59056411..59076586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6SJ93.1 GenPept UniProtKB/Swiss-Prot:Q6SJ93

    Gene LinkOut

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

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