Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions N.A.
Localizations Stress granucle
BulkPerturb-seq

Description

Ensembl ID ENSG00000189057 Gene ID 374393 Accession 24200
Symbol FAM111B Alias CANP;POIKTMP Full Name FAM111 trypsin like peptidase B
Status Confidence Length 20228 bases Strand Plus strand
Position 11 : 59107185 - 59127412 RNA binding domain N.A.
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
FAM111B-202 ENST00000411426 3344 704aa ENSP00000393855
FAM111B-203 ENST00000528234 574 No protein -
FAM111B-204 ENST00000529618 2364 704aa ENSP00000432875
FAM111B-205 ENST00000534403 557 162aa ENSP00000432143
FAM111B-201 ENST00000343597 3506 734aa ENSP00000341565
FAM111B-206 ENST00000620384 3405 734aa ENSP00000483456

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000785part_of chromatin1IBAHomo_sapiens(9606)Component
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634is_active_in nucleus1IBAHomo_sapiens(9606)Component
GO:0006260involved_in DNA replication1IBAHomo_sapiens(9606)Process
GO:0006508involved_in proteolysis1IEAHomo_sapiens(9606)Process
GO:0008233enables peptidase activity1IEAHomo_sapiens(9606)Function

Expression