TMC1

GENERAL INFORMATION

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Gene name

TMC1

Gene description

Transmembrane channel-like 1

Protein class

Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (kidney, placenta)
GTEx:Tissue enhanced (esophagus, testis)

Protein evidence

Evidence at protein level

Protein localization

RNA data suggests low expression in placenta and kidney. RNA-based expert annotation gave inconclusive results.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded. Pending external verification.

Data reliability

Uncertain based on 2 antibodies.
HPA044166 , HPA046773
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (kidney, placenta)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (esophagus, testis)

Organ

Expression



GENE INFORMATION

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Gene name

TMC1 (HGNC Symbol)

Synonyms

DFNA36, DFNB11, DFNB7

Description

Transmembrane channel-like 1 (HGNC Symbol)

Entrez gene summary

This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]

Chromosome

9

Cytoband

q21.13

Chromosome location (bp)

72521801 - 72836351

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000165091 (version 78.38)

Entrez gene

117531

UniProt

Q8TDI8 (UniProt - Evidence at protein level)

neXtProt

NX_Q8TDI8

Antibodypedia

TMC1 antibodies


PROTEIN BROWSER

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ENST00000297784
 
ENST00000340019
 
 
 
 


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)

TMC1-001 ENSP00000297784
ENST00000297784
Q8TDI8
Show all »
Show » Show » 760 87.8 No 9
TMC1-201 ENSP00000341433
ENST00000340019
Q8TDI8
Show all »
Show » Show » 760 87.8 No 9