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

    Gene ID: 374393, updated on 23-Mar-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See FAM111B in Genome Data Viewer
    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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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_034129.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001142703.2NP_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:445634
      Trypsin_2; Trypsin-like peptidase domain
    2. NM_001142704.2NP_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:445634
      Trypsin_2; Trypsin-like peptidase domain
    3. NM_198947.4NP_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:475664
      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)