Gene Gene information from NCBI Gene database.
Entrez ID 8243
Gene name Structural maintenance of chromosomes 1A
Gene symbol SMC1A
Synonyms (NCBI Gene)
CDLS2DEE85DXS423EEIEE85SB1.8SMC1SMC1L1SMC1alphaSMCB
Chromosome X
Chromosome location Xp11.22
Summary 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.
74
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.
1298
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300040 11111 ENSG00000072501
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
931
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic rs2146599602 RCV001814493
Congenital muscular hypertrophy-cerebral syndrome Likely pathogenic; Pathogenic rs2075726992, rs2146582443, rs2146598341, rs2146582701, rs2146592407, rs2146593421, rs2146598241, rs782176647, rs587784422, rs2146605644, rs2146614137, rs2146598316, rs2146604602, rs2075758478, rs2146599562
View all (119 more)
RCV001334531
RCV001379576
RCV001378227
RCV001379710
RCV001380272
RCV001387534
RCV001380328
RCV001381967
RCV001390824
RCV001389992
RCV001389582
RCV001381926
RCV001788516
RCV001788517
RCV001775318
RCV001843849
RCV001946733
RCV001940623
RCV001931044
RCV002051525
RCV001987900
RCV002025846
RCV001915104
RCV002000326
RCV001962943
RCV001994883
RCV002041467
RCV001880988
RCV001951468
RCV002042319
RCV001969436
RCV002052134
RCV002226866
RCV002249174
RCV002272820
RCV000147568
RCV000147566
RCV000147564
RCV000147563
RCV000147560
RCV000147558
RCV000147557
RCV000147556
RCV000147555
RCV000147554
RCV000147550
RCV000147548
RCV000147572
RCV000147570
RCV000147569
RCV000157050
RCV000157049
RCV002471965
RCV002470576
RCV004798963
RCV003112449
RCV000202430
RCV000202429
RCV003512023
RCV000191130
RCV002856276
RCV000193116
RCV002881787
RCV003009630
RCV003009631
RCV003029362
RCV003148320
RCV003149150
RCV003231015
RCV000012438
RCV000012439
RCV000012440
RCV000012441
RCV000990832
RCV003512213
RCV003333681
RCV003444035
RCV003512849
RCV003513084
RCV003511636
RCV003512631
RCV003512786
RCV003625151
RCV003625192
RCV003625411
RCV003625286
RCV003625542
RCV003625900
RCV003625991
RCV003626094
RCV003624097
RCV003883278
RCV003883330
RCV003883367
RCV003986008
RCV000415358
RCV000416533
RCV000417105
RCV000022820
RCV002527145
RCV001387822
RCV000707530
RCV004002750
RCV000680261
RCV000680263
RCV000680260
RCV000680259
RCV000680258
RCV000639414
RCV000639413
RCV000639410
RCV000660365
RCV000698600
RCV000703292
RCV000692280
RCV000757943
RCV000812147
RCV000799059
RCV000791958
RCV000990830
RCV000990831
RCV000990833
RCV000990834
RCV000990835
RCV000995878
RCV000995879
RCV001031001
RCV001060696
RCV001045982
RCV001049126
RCV001043421
RCV001048385
RCV001062141
RCV001196790
RCV001249630
RCV001252976
RCV001270900
Cornelia de Lange syndrome 1 Pathogenic rs1057520375 RCV001527652
Developmental and epileptic encephalopathy, 85, with or without midline brain defects Pathogenic; Likely pathogenic rs2146582701, rs782176647, rs2146582657, rs2146604738, rs2146599562, rs2146599361, rs2146599339, rs2520828047, rs587784416, rs587784409, rs2520960923, rs863225459, rs863225458, rs2520828613, rs2520885035
View all (14 more)
RCV001775171
RCV005050374
RCV001542626
RCV001785350
RCV001843850
RCV002255244
RCV002274481
RCV002281628
RCV003883136
RCV002498674
RCV002512489
RCV001072125
RCV001072124
RCV003322682
RCV004371466
RCV003883278
RCV003883330
RCV003883367
RCV003986008
RCV005253692
RCV003594090
RCV001072123
RCV001072126
RCV001072127
RCV001072128
RCV001072129
RCV001072130
RCV001072131
RCV001250669
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Uncertain significance rs1057518859 RCV000415322
Acute myeloid leukemia Benign rs73210414 RCV005892836
Cervical cancer Benign rs73210414 RCV005892838
Cholangiocarcinoma Benign rs73210414 RCV005892841
Associations from Text MiningDisease 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
View all (14 more)