FAM111B

GENERAL INFORMATION

? »

Gene name

FAM111B

Gene description

Family with sequence similarity 111, member B

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

5
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enhanced (lymph node, tonsil)
GTEx:Tissue enhanced (esophagus)

Protein evidence

Evidence at protein level

Protein localization

Renal tubules and prostate displayed strong granular cytoplasmic positivity. Gastrointestinal glands, epididymis, squamous epithelia and breast showed moderate nuclear and/or cytoplasmic staining. Other normal tissues were weakly stained or negative.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA038637
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enhanced (lymph node, tonsil)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (esophagus)

Organ

Expression



GENE INFORMATION

? »

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 BROWSER

? »
 
 
 
ENST00000343597
 
ENST00000411426
 
ENST00000529618
 
ENST00000534403
 
ENST00000620384
 
 
 
 


PROTEIN INFORMATION

? »

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