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FERMT1

GENERAL INFORMATION

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

RNA tissue category
HPA:Mixed
GTEx:Tissue enhanced (adrenal gland)
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA039778 , HPA041966
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (adrenal gland)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

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 83.38)

Entrez gene

 55612

UniProt

 Q9BQL6 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9BQL6

Antibodypedia

 FERMT1 antibodies

PROTEIN BROWSER
FERMT1-001
FERMT1-004
FERMT1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
FERMT1-001
ENSP00000217289
ENST00000217289
Q9BQL6 [Direct mapping]
Fermitin family homolog 1
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005829 [cytosol]
GO:0005925 [focal adhesion]
GO:0007155 [cell adhesion]
GO:0030054 [cell junction]
GO:0031941 [filamentous actin]
GO:0032587 [ruffle membrane]
GO:0043616 [keratinocyte proliferation]
GO:0051546 [keratinocyte migration]
GO:0090162 [establishment of epithelial cell polarity]
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 677 aa
77.4 kDa 		No 0
FERMT1-004
ENSP00000368121
ENST00000378844
Q5JWV4 [Direct mapping]
Fermitin family homolog 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 146 aa
17.1 kDa 		No 0
FERMT1-201
ENSP00000441063
ENST00000536936
G3V1L6 [Direct mapping]
Chromosome 20 open reading frame 42, isoform CRA_c; Fermitin family homolog 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 420 aa
48.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.