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FLASH GENE

Symbol

SMC1A

contributors: mct/npt/pgu - updated : 19-05-2009

HGNC name	structural maintenance of chromosomes 1A
HGNC id	11111

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDLSX Cornelia de Lange syndrome, X-linked
Location	Xp11.22      Physical location : 53.401.071 - 53.449.618
Synonym name	SMC1 (structural maintenance of chromosomes 1, yeast)-like 1
	segregation of mitotic chromosomes 1 (SMC1, yeast human homolog of)
Synonym symbol(s)	KIAA0178, DXS423E, SB1.8, SMC1, SMC1(alpha), SMCB, SMC1L1, DKFZp686L19178, MGC138332

DNA

TYPE	functioning gene
SPECIAL FEATURE	escaping inactivation
STRUCTURE	48.55 kb     25 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

located in an area of the X-chromosome that escapes X inactivation

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed SMC1A 25 - 9725 143 1233 - 2009 18996922

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel aorta       Digestive liver       highly   mouth tongue     highly Endocrine pancreas         Lymphoid/Immune lymph node       highly Reproductive male system prostate       Respiratory lung         Urinary bladder       highly

cell lineage
cell lines
fluid/secretion	lymph

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal NTP-binding site
	two nucleotide-binding motifs, known as Walker A and Walker B motifs, situated at opposing ends of the polypeptide and the large coiled-coil motif is situated between the Walker A and Walker B motifs
	two coiled-coil domains that are thought to form a lattice-like structure
	a globular ATP-binding site at both ends and a long helical domain that is interrupted near its center by a nonhelical region
	a C-terminal helix-loop-helix (HLH) domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to yeast S.cerevisiae SMC1 protein
	homolog to murine Smc1l1

Homologene

FAMILY	ezrin/radixin/moesin family
	SMC family
	SMC1 subfamily

CATEGORY

motor/contractile , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus,chromatin/chromosome,kinetochore
text	mitotic
	not associated with chromatin after prophase I
	associated with the two centrioles of a centrosome

basic FUNCTION	playing roles in sister chromatid cohesion and DNA repair
	member of the cohesin complex, enabling proper chromosome segregation
	may be playing a role in spindle pole assembly during mitosis
	involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM
	may be absolutely required for the correct completion of the last steps of DNA replication and required to prevent fragile site expression
	play an important role in the maintenance of chromosomal integrity by preventing the premature separation of the sister chromatids at the onset of anaphase
	involved in centrosome/basal body-related functions, such as organization of dynamic arrays of microtubules and ciliary formation
	may play important roles in nucleation or anchoring of microtubules at interphase of the cell cycle and abscission at the final stage of cytokinesis
	recruited to microtubule-bound RNA export factor 1 (RAE1) at the mitotic spindle pole
	important component of DNA repair (ATM- and ATR-dependent phosphorylation of SMC1A and SMC3 are critical for DNA damage response)

CELLULAR PROCESS	cell cycle, division, mitosis
	nucleotide, chromatin organization

PHYSIOLOGICAL PROCESS

text	cell cycle control, chromatin/chromosome structure

PATHWAY

metabolism

signaling

pathway that participates in spindle pole formation and that involves recruitment of SMC1A by microtubule-bound RAE1 at the spindle pole

a component	heterodimerizing with SMC3 (CSPG6)
	component of SMC1A, SMC3, RAD21 and STAG1, cohesin complex that is central to the mechanism of sister chromatid cohesion

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP/GTP binding

protein	BRCA1
	ATM
	interacting with FANCM (most likely contributes to CHEK1 and SMC1A phosphorylation by stimulating ATR activity towards its targets through promoting TOPBP1 retention on chromatin)

cell & other

REGULATION

Other

its phosphorylation is required for an increased mobility after DNA damage in G2-phase cells, suggesting that ATM-dependent phosphorylation facilitates mobilization of the cohesin complex after DNA damage

ASSOCIATED DISORDERS

corresponding disease(s)

CDLSX

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   amplification     Xp duplication including SMC1A, (

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS