Cell atlas - SMCHD1 - The Human Protein Atlas

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SMCHD1

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Nuclear bodies
	Nucleoplasm

Human cell
	Nucleoplasm

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GENERAL INFORMATION
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
Summary	Mainly localized to the nucleoplasm. In addition localized to the nuclear bodies.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoplasm (approved)
Additional location	In addition localized to the Nuclear bodies (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA039441
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the nucleoplasm. In addition localized to the nuclear bodies.

Main location

Nucleoplasm (approved)

Additional location

Nuclear bodies (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA039441	U-2 OS	Nucleoplasm
	HPA039441	U-251 MG	Nucleoplasm
	HPA039441	U-251 MG	Nuclear bodies

GENE INFORMATION
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 83.38)
Entrez gene	23347
UniProt	A6NHR9 (UniProt - Evidence at protein level)
neXtProt	NX_A6NHR9
Antibodypedia	SMCHD1 antibodies

PROTEIN BROWSER

SMCHD1-001	SMCHD1-015

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SMCHD1-001 ENSP00000326603 ENST00000320876	A6NHR9 [Direct mapping] Structural maintenance of chromosomes flexible hinge domain-containing protein 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001740 [Barr body] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005694 [chromosome] GO:0009048 [dosage compensation by inactivation of X chromosome] GO:0051276 [chromosome organization] GO:0060821 [inactivation of X chromosome by DNA methylation] Show all	2005 aa 226.4 kDa	No	0
SMCHD1-015 ENSP00000463036 ENST00000583800	J3KTK7 [Direct mapping] Structural maintenance of chromosomes flexible hinge domain-containing protein 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		48 aa 5.4 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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