FERMT1

GENERAL INFORMATION

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Gene name

FERMT1

Gene description

Fermitin family member 1

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (rectum)
GTEx:Tissue enhanced (adrenal gland)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues, low or no expression in lymphoid tissues and CNS.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA039778 , HPA041966
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RNA AND PROTEIN EXPRESSION SUMMARY

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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

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (rectum)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (adrenal gland)

Organ

Expression



GENE INFORMATION

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Gene name

FERMT1 (HGNC Symbol)

Synonyms

C20orf42, FLJ20116, KIND1, UNC112A, URP1

Description

Fermitin family member 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]

Chromosome

20

Cytoband

p12.3

Chromosome location (bp)

6074845 - 6123544

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000101311 (version 78.38)

Entrez gene

55612

UniProt

Q9BQL6 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BQL6

Antibodypedia

FERMT1 antibodies


PROTEIN BROWSER

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ENST00000217289
 
ENST00000378844
 
ENST00000536936
 
 
 
 


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)

FERMT1-001 ENSP00000217289
ENST00000217289
Q9BQL6
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Show » Show » 677 77.4 No 0
FERMT1-004 ENSP00000368121
ENST00000378844
Q5JWV4
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Show » 146 17.1 No 0
FERMT1-201 ENSP00000441063
ENST00000536936
G3V1L6
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Show » 420 48.3 No 0