SMCHD1

GENERAL INFORMATION

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Gene name

SMCHD1

Gene description

Structural maintenance of chromosomes flexible hinge domain 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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Nuclear expression in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Uncertain based on 1 antibody.
HPA039441
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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



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

SMCHD1 (HGNC Symbol)

Synonyms

KIAA0650

Description

Structural maintenance of chromosomes flexible hinge domain containing 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]

Chromosome

18

Cytoband

p11.32

Chromosome location (bp)

2655738 - 2805017

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000101596 (version 78.38)

Entrez gene

23347

UniProt

A6NHR9 (UniProt - Evidence at protein level)

neXtProt

NX_A6NHR9

Antibodypedia

SMCHD1 antibodies


PROTEIN BROWSER

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ENST00000320876
 
ENST00000583800
 
 
 
 


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)

SMCHD1-001 ENSP00000326603
ENST00000320876
A6NHR9
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Show » Show » 2005 226.4 No 0
SMCHD1-015 ENSP00000463036
ENST00000583800
Show » 48 5.4 No 0