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

Gene ID: 374393, updated on 23-Mar-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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Location:
11q12.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (59107237..59127412)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (59056411..59076586)
105.20220307 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
  • 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. 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
  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. Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation. Zhang Z, et al. J Dermatol, 2019 Nov. PMID 31392773
  5. Mutations of FAM111B gene are not associated with Systemic Sclerosis. Gcelu A, et al. Sci Rep, 2018 Oct 30. PMID 30375432, Free PMC Article

See all (35) 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
part_of 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_2023_10

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

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