Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8243
Gene name Gene Name - the full gene name approved by the HGNC.
Structural maintenance of chromosomes 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMC1A
Synonyms (NCBI Gene) Gene synonyms aliases
CDLS2, DEE85, DXS423E, EIEE85, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.22
Summary Summary of gene provided in NCBI Entrez Gene.
Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenan
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs122454122 T>G Pathogenic Coding sequence variant, missense variant
rs122454123 C>T Pathogenic Coding sequence variant, missense variant
rs387906702 A>G Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs587784403 C>T Pathogenic Missense variant, coding sequence variant
rs587784404 G>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004469 hsa-let-7e-5p Luciferase reporter assay 15131085
MIRT031051 hsa-miR-21-5p Microarray 18591254
MIRT004469 hsa-let-7e-5p Reporter assay;Other 15131085
MIRT052108 hsa-let-7b-5p CLASH 23622248
MIRT052108 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000070 Process Mitotic sister chromatid segregation TAS 7757074
GO:0000166 Function Nucleotide binding IEA
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000775 Component Chromosome, centromeric region TAS
GO:0000776 Component Kinetochore IDA 11682612, 12199140
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300040 11111 ENSG00000072501
Protein
UniProt ID Q14683
Protein name Structural maintenance of chromosomes protein 1A (SMC protein 1A) (SMC-1-alpha) (SMC-1A) (Sb1.8)
Protein function Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large
PDB 6WG3 , 6WG4 , 6WG6 , 6WGE , 7W1M , 8P0A , 8PQ5 , 8RO6 , 8RO7 , 8RO8 , 8RO9 , 8ROA , 8ROB , 8ROC , 8ROD , 8ROE , 8ROF , 8ROG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02463 SMC_N 3 1211 RecF/RecN/SMC N terminal domain Domain
PF06470 SMC_hinge 512 629 SMC proteins Flexible Hinge Domain Domain
Sequence
MGFLKLIEIENFKSYKGRQIIGPFQRFTAIIGPNGSGKSNLMDAISFVLGEKTSNLRVKT
LRDLIHGAPVGKPAANRAFVSMVYSEEGAEDRTFARVIVGGSSEYKINNKVVQLHEYSEE
LEKLGILIKARNFLVFQGAVESIAMKNPKERTALFEEISRSGELAQEYDKRKKEMVKAEE
DTQFNYHRKKNIAAERKEAKQEKEEADRYQRLKDEVVRAQVQLQLFKLYHNEVEIEKLNK
ELASKNKEIEKDKKRMDKVEDELKEKKKELGKMMREQQQIEKEIKEKDSELNQKRPQYIK
AKENTSHKIKKLEAAKKSLQNAQKHYKKRKGDMDELEKEMLSVEKARQEFEERMEEESQS
QGRDLTLEENQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAK
IKQKLREIEENQKRIEKLEEYITTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQV
MEQLGDARIDRQESSRQQRKAEIMESIKRLY
PGSVYGRLIDLCQPTQKKYQIAVTKVLGK
NMDAIIVDSEKTGRDCIQYIKEQRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRY
EPPHIKKALQYACGNALVCDNVEDARRIA
FGGHQRHKTVALDGTLFQKSGVISGGASDLK
AKARRWDEKAVDKLKEKKERLTEELKEQMKAKRKEAELRQVQSQAHGLQMRLKYSQSDLE
QTKTRHLALNLQEKSKLESELANFGPRINDIKRIIQSREREMKDLKEKMNQVEDEVFEEF
CREIGVRNIREFEEEKVKRQNEIAKKRLEFENQKTRLGIQLDFEKNQLKEDQDKVHMWEQ
TVKKDENEIEKLKKEEQRHMKIIDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGG
ANKEMTHLQKEVTAIETKLEQKRSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGE
DSVSGSQRISSIYAREALIEIDYGDLCEDLKDAQAEEEIKQEMNTLQQKLNEQQSVLQRI
AAPNMKAMEKLESVRDKFQETSDEFEAARKRAKKAKQAFEQIKKERFDRFNACFESVATN
IDEIYKALSRNSSAQAFLGPENPEEPYLDGINYNCVAPGKRFRPMDNLSGGEKTVAALAL
LFAIHSYKPAPFFVLDEIDAALDNTNIGKVANYIKEQSTCNFQAIVISLKEEFYTKAESL
IGVYPEQGDCV
ISKVLTFDLTKYPDANPNPNEQ
Sequence length 1233
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cell cycle
Oocyte meiosis
  Separation of Sister Chromatids
Establishment of Sister Chromatid Cohesion
Cohesin Loading onto Chromatin
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
Estrogen-dependent gene expression
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Muscular Hypertrophy-Cerebral Syndrome congenital muscular hypertrophy-cerebral syndrome rs1602405588, rs863225458, rs1556889269, rs387906702, rs2075701790, rs1556886124, rs587784406, rs1602410098, rs1556890135, rs587784419, rs2075725792, rs1556892359, rs587784404, rs797044896, rs868985177
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N/A
Cornelia De Lange Syndrome cornelia de lange syndrome 1 rs1057520375 N/A
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 85, with or without midline brain defects rs863225458, rs2075687835, rs2075680107, rs2075681060, rs2075664229, rs2075591576, rs2075651835, rs1569356555, rs863225459, rs2075685944 N/A
Microcephaly microcephaly rs587784412 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders X-linked complex neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aicardi Goutieres syndrome Associate 39871364
Anophthalmos with limb anomalies Associate 32193685
Ataxia Telangiectasia Associate 19147735, 25032865
Carcinogenesis Associate 23717600, 29988990, 37537540
Carcinoma Hepatocellular Associate 29988990, 37212524
Carcinoma Hepatocellular Stimulate 36281130
Chromosomal Instability Associate 25893404
Cleft Palate Associate 20358602
Colorectal Neoplasms Associate 26637483
De Lange Syndrome Associate 17273969, 18996922, 19052029, 19701948, 20358602, 20448023, 20583156, 22241092, 22353942, 22857006, 23106691, 24403048, 24756084, 24918291, 25574841
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