FAM111B

GENE INFORMATION

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Gene name

FAM111B (HGNC Symbol)

Synonyms

CANP

Description

Family with sequence similarity 111, member B (HGNC Symbol)

Entrez gene 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]

Chromosome

11

Cytoband

q12.1

Chromosome location (bp)

59107185 - 59127410

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000189057 (version 78.38)

Entrez gene

374393

UniProt

Q6SJ93 (UniProt - Evidence at protein level)

neXtProt

NX_Q6SJ93

Antibodypedia

FAM111B antibodies
 

PROTEIN VIEW

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FAM111B-001
 
FAM111B-002
 
FAM111B-004
 
FAM111B-201
 
FAM111B-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FAM111B-001 ENSP00000341565
ENST00000343597
Q6SJ93
Show all »
Show » Show » 734 84.7 No 0
FAM111B-002 ENSP00000432875
ENST00000529618
Q6SJ93
Show all »
Show » Show » 704 81.2 No 0
FAM111B-004 ENSP00000432143
ENST00000534403
E9PS27
Show all »
Show » 162 18.4 No 0
FAM111B-201 ENSP00000393855
ENST00000411426
Q6SJ93
Show all »
Show » Show » 704 81.2 No 0
FAM111B-202 ENSP00000483456
ENST00000620384
Q6SJ93
Show all »
Show » Show » 734 84.7 No 0