SMC1A (Q15311673)

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protein-coding gene in the species Homo sapiens

CDLS2
DXS423E
SB1.8
SMC1
SMC1L1
SMC1alpha
SMCB
structural maintenance of chromosomes 1A
EIEE85
DEE85

Language	Label	Description	Also known as
English	SMC1A	protein-coding gene in the species Homo sapiens	CDLS2 DXS423E SB1.8 SMC1 SMC1L1 SMC1alpha SMCB structural maintenance of chromosomes 1A EIEE85 DEE85

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

protein-coding gene

1 reference

NCBI homo sapiens annotation release 107

3 October 2016

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

Structural maintenance of chromosomes 1A

1 reference

6 July 2017

UniProt protein ID

1 reference

UniProt protein ID

19 March 2016

language of work or name

gene substitution association with

Cornelia de Lange syndrome 2

determination method or standard

2 references

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

type of reference

type of reference

The multiple facets of the SMC1A gene

human X chromosome

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

53374149

human X chromosome

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

53401070

human X chromosome

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

53422728

human X chromosome

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

53449677

human X chromosome

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

cytogenetic location

Xp11.22

1 reference

15 May 2022

4597

1 reference

15 May 2022

Gene Atlas image

PBB GE SMC1A 201589 at fs.png
732 × 530; 11 KB

0 references

PBB GE SMC1A 217555 at fs.png
732 × 530; 11 KB

0 references

2 references

HomoloGene build68

4597

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q14683/

Saccharomyces cerevisiae S288c

1 reference

HomoloGene build68

4597

2 references

HomoloGene build68

4597

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q14683/

1 reference

HomoloGene build68

4597

Caenorhabditis elegans

2 references

HomoloGene build68

4597

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q14683/

Drosophila melanogaster

2 references

HomoloGene build68

4597

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q14683/

2 references

HomoloGene build68

4597

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q14683/

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000072501

trabecular bone

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000072501

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000072501

tendon of biceps brachii

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000072501

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000072501

germinal epithelium

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000072501

ventricular zone

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000072501

mucosa of sigmoid colon

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000072501

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000072501

Achilles tendon

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000072501

http://identifiers.org/ncbigene/8243

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000072501

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

Ensembl transcript ID

ENST00000470241

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

ENST00000322213

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

ENST00000375340

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

ENST00000463684

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

ENST00000469129

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

ENST00000674590

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

ENST00000675504

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

ENST00000675065

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000072501

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(4 entries)

enwiki SMC1A
eswiki SMC1A
ttwiki SMC1A
ukwiki SMC1A

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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