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EFHC1

GENERAL INFORMATION

Gene name

 EFHC1

Gene description

 EF-hand domain (C-terminal) containing 1

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (fallopian tube)
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression, most abundant in fallopian tube.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA035307
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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

Fallopian tube

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (fallopian tube)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 EFHC1 (HGNC Symbol)

Synonyms

 EJM, EJM1, FLJ10466

Description

 EF-hand domain (C-terminal) containing 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

Chromosome

 6

Cytoband

 p12.2

Chromosome location (bp)

 52420308 - 52495785

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000096093 (version 83.38)

Entrez gene

 114327

UniProt

 Q5JVL4 (UniProt - Evidence at protein level)

neXtProt

 NX_Q5JVL4

Antibodypedia

 EFHC1 antibodies

PROTEIN BROWSER
EFHC1-001
EFHC1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
EFHC1-001
ENSP00000360107
ENST00000371068
Q5JVL4 [Direct mapping]
EF-hand domain-containing protein 1
B2CKC5 [Target identity:100%; Query identity:100%]
EF-hand domain (C-terminal) containing 1, isoform CRA_a; EF-hand domain containing 1
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0008022 [protein C-terminus binding]
GO:0021795 [cerebral cortex cell migration]
GO:0043025 [neuronal cell body]
GO:0072686 [mitotic spindle]
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 640 aa
74 kDa 		No 0
EFHC1-201
ENSP00000444521
ENST00000538167
Q5JVL4 [Direct mapping]
EF-hand domain-containing protein 1
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005930 [axoneme]
GO:0008022 [protein C-terminus binding]
GO:0021795 [cerebral cortex cell migration]
GO:0043025 [neuronal cell body]
GO:0072686 [mitotic spindle]
Show all
 621 aa
72 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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