Ensembl ID ENSG00000072501 Gene ID 8243 Accession 11111
Gene Symbol SMC1A Alias SMC1;SMCB;CDLS2;DEE85;SB1.8;EIEE85;SMC1L1;DXS423E;SMC1alpha Full Name structural maintenance of chromosomes 1A
Position X : 53374149 - 53422728 Length 48580 bases Strand Minus strand
Status Confidence Main interacting RNAsN.A.RBP type Non-canonical_RBPs
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 maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

ENSG00000072501 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000072501 SMC1A 0.47 1.51e-15 BRCA
Ensembl ID Gene symbol Cancer types Pubmed ID
ENSG00000072501 SMC1A tumor 19309015
ENSG00000072501 SMC1A colorectal cancers 19842212
ENSG00000072501 SMC1A cancer 20501661
ENSG00000072501 SMC1A colon cancer 21390062
ENSG00000072501 SMC1A tumor 22515193
ENSG00000072501 SMC1A cancer 22763391
ENSG00000072501 SMC1A colorectal cancer 23382697
ENSG00000072501 SMC1A cancer 23426528
ENSG00000072501 SMC1A breast cancer 23506640
ENSG00000072501 SMC1A cancer 23638217
ENSG00000072501 SMC1A breast cancer 23717600
ENSG00000072501 SMC1A tumors 24121791
ENSG00000072501 SMC1A AML 24335498
ENSG00000072501 SMC1A AMLs 24856830
ENSG00000072501 SMC1A colorectal cancer 25884313
ENSG00000072501 SMC1A Wilms tumor 26315090
ENSG00000072501 SMC1A colorectal cancer 26637483
ENSG00000072501 SMC1A triple-negative breast cancer 26781859
ENSG00000072501 SMC1A tumors 26871722
ENSG00000072501 SMC1A cancers 26886259
ENSG00000072501 SMC1A tumor 27300760
ENSG00000072501 SMC1A cancer 27307603
ENSG00000072501 SMC1A prostate cancer 27667360
ENSG00000072501 SMC1A cancer 27739523
ENSG00000072501 SMC1A colorectal cancer 27826041
ENSG00000072501 SMC1A AML 28152414
ENSG00000072501 SMC1A pediatric AML 28507466
ENSG00000072501 SMC1A GBM 28868238
ENSG00000072501 SMC1A DLBCL 28895406
ENSG00000072501 SMC1A cancer 28924389
ENSG00000072501 SMC1A GBM 29581866
ENSG00000072501 SMC1A AML 29599201
ENSG00000072501 SMC1A gastric cancer 29928354
ENSG00000072501 SMC1A cancer 29988990
ENSG00000072501 SMC1A prostate cancer 30242889
ENSG00000072501 SMC1A AML 30246348
ENSG00000072501 SMC1A AML 30630974
ENSG00000072501 SMC1A tumors 30823889
ENSG00000072501 SMC1A cancers 30873408
ENSG00000072501 SMC1A cancer 30975996
ENSG00000072501 SMC1A tumor 31451355
ENSG00000072501 SMC1A tumor 31524239
ENSG00000072501 SMC1A tumors 31578439
ENSG00000072501 SMC1A acute myeloid leukemia (AML) 31648497
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
ENSG00000072501 SMC1A acute myeloid leukemia missense_variant 2.523% (43/1704) 5 entries
ENSG00000072501 SMC1A diffuse large B-cell lymphoma missense_variant 0.6557% (2/305) 2 entries
ENSG00000072501 SMC1A myelodysplastic syndrome missense_variant 1.389% (2/144) 1 entry
ENSG00000072501 SMC1A skin melanoma missense_variant 0.6205% (6/967) 2 entries
ENSG00000072501 SMC1A colon adenocarcinoma sequence_alteration 3.463% (25/722) 3 entries
ENSG00000072501 SMC1A acute myeloid leukemia stop_gained 2.523% (43/1704) 1 entry
ENSG00000072501 SMC1A prostate adenocarcinoma sequence_alteration 0.6878% (10/1454) 1 entry
ENSG00000072501 SMC1A large cell lung carcinoma missense_variant 11.11% (2/18) 1 entry
ENSG00000072501 SMC1A small cell lung carcinoma frameshift_variant 1.567% (5/319) 1 entry
ENSG00000072501 SMC1A female breast carcinoma missense_variant 1.498% (4/267) 2 entries
ENSG00000072501 SMC1A breast carcinoma missense_variant 0.9213% (13/1411) 1 entry
ENSG00000072501 SMC1A colorectal adenocarcinoma sequence_alteration 3.866% (44/1138) 1 entry
ENSG00000072501 SMC1A lung adenocarcinoma missense_variant 0.6019% (7/1163) 4 entries
ENSG00000072501 SMC1A prostate carcinoma sequence_alteration 1.643% (7/426) 1 entry
ENSG00000072501 SMC1A prostate carcinoma missense_variant 1.643% (7/426) 1 entry
ENSG00000072501 SMC1A bladder transitional cell carcinoma missense_variant 2.92% (4/137) 1 entry
ENSG00000072501 SMC1A hemangioblastoma sequence_alteration 6.25% (2/32) 1 entry
ENSG00000072501 SMC1A brain glioblastoma missense_variant 0.8639% (8/926) 1 entry
ENSG00000072501 SMC1A ovarian serous adenocarcinoma missense_variant 0.8915% (6/673) 1 entry
ENSG00000072501 SMC1A central nervous system primitive neuroectodermal neoplasm missense_variant 0.6757% (3/444) 1 entry
ENSG00000072501 SMC1A acute myeloid leukemia sequence_alteration 2.523% (43/1704) 2 entries
ENSG00000072501 SMC1A Cervical Small Cell Carcinoma missense_variant 33.33% (2/6) 1 entry
ENSG00000072501 SMC1A small cell lung carcinoma sequence_alteration 1.567% (5/319) 2 entries
ENSG00000072501 SMC1A breast ductal adenocarcinoma missense_variant 4.795% (28/584) 1 entry
ENSG00000072501 SMC1A chronic lymphocytic leukemia missense_variant 0.4505% (4/888) 1 entry
ENSG00000072501 SMC1A oral squamous cell carcinoma missense_variant 1.463% (3/205) 3 entries
ENSG00000072501 SMC1A melanoma missense_variant 3.96% (4/101) 1 entry
ENSG00000072501 SMC1A Mantle cell lymphoma missense_variant 3.261% (3/92) 2 entries
ENSG00000072501 SMC1A chronic myelomonocytic leukemia missense_variant 2.649% (4/151) 2 entries
ENSG00000072501 SMC1A colorectal adenocarcinoma missense_variant 3.866% (44/1138) 3 entries
ENSG00000072501 SMC1A papillary renal cell carcinoma missense_variant 0.5634% (2/355) 1 entry
ENSG00000072501 SMC1A brain glioblastoma sequence_alteration 0.8639% (8/926) 1 entry
ENSG00000072501 SMC1A colon adenocarcinoma missense_variant 3.463% (25/722) 5 entries
ENSG00000072501 SMC1A esophageal squamous cell carcinoma missense_variant 0.4444% (3/675) 1 entry
ENSG00000072501 SMC1A head and neck squamous cell carcinoma missense_variant 0.1597% (1/626) 1 entry
ENSG00000072501 SMC1A Kidney Oncocytoma stop_gained 6.25% (2/32) 1 entry
ENSG00000072501 SMC1A Adamantinomatous Craniopharyngioma missense_variant 8.333% (1/12) 1 entry
ENSG00000072501 SMC1A multiple myeloma missense_variant 2.222% (1/45) 1 entry
ENSG00000072501 SMC1A colorectal adenocarcinoma frameshift_variant 3.866% (44/1138) 1 entry
ENSG00000072501 SMC1A pharyngeal squamous cell carcinoma sequence_alteration 3.226% (1/31) 1 entry
ENSG00000072501 SMC1A bronchoalveolar adenocarcinoma missense_variant 4.545% (1/22) 1 entry
ENSG00000072501 SMC1A melanoma stop_gained 3.96% (4/101) 1 entry
ENSG00000072501 SMC1A neoplasm of mature B-cells missense_variant 2.941% (1/34) 1 entry
ENSG00000072501 SMC1A Kidney Oncocytoma missense_variant 6.25% (2/32) 1 entry
ENSG00000072501 SMC1A bladder transitional cell carcinoma stop_gained 2.92% (4/137) 1 entry
ENSG00000072501 SMC1A gastric intestinal type adenocarcinoma missense_variant 1.176% (1/85) 1 entry
ENSG00000072501 SMC1A bronchoalveolar adenocarcinoma sequence_alteration 4.545% (1/22) 1 entry
ENSG00000072501 SMC1A chromophobe renal cell carcinoma missense_variant 0.8696% (1/115) 1 entry
ENSG00000072501 SMC1A Cervical Small Cell Carcinoma sequence_alteration 33.33% (2/6) 1 entry
ENSG00000072501 SMC1A rectal adenocarcinoma frameshift_variant 1.357% (3/221) 1 entry
ENSG00000072501 SMC1A colonic neoplasm missense_variant 6.667% (1/15) 1 entry
ENSG00000072501 SMC1A Uterine Carcinosarcoma missense_variant 2.727% (3/110) 1 entry
ENSG00000072501 SMC1A breast ductal adenocarcinoma conservative_inframe_deletion 4.795% (28/584) 1 entry
ENSG00000072501 SMC1A esophageal adenocarcinoma missense_variant 0.4566% (2/438) 1 entry
ENSG00000072501 SMC1A melanoma sequence_alteration 3.96% (4/101) 1 entry
ENSG00000072501 SMC1A kidney Wilms tumor missense_variant 0.3135% (1/319) 1 entry
ENSG00000072501 SMC1A Gallbladder Adenocarcinoma missense_variant 1.149% (1/87) 1 entry
ENSG00000072501 SMC1A skin melanoma frameshift_variant 0.6205% (6/967) 1 entry
ENSG00000072501 SMC1A pharyngeal squamous cell carcinoma missense_variant 3.226% (1/31) 1 entry
ENSG00000072501 SMC1A large cell medulloblastoma missense_variant 5.263% (1/19) 1 entry
ENSG00000072501 SMC1A Merkel cell skin cancer missense_variant 3.333% (1/30) 1 entry
ENSG00000072501 SMC1A small cell lung carcinoma missense_variant 1.567% (5/319) 1 entry
ENSG00000072501 SMC1A salivary gland adenoid cystic carcinoma missense_variant 1.961% (1/51) 1 entry
ENSG00000072501 SMC1A lung adenocarcinoma sequence_alteration 0.6019% (7/1163) 1 entry
ENSG00000072501 SMC1A bladder transitional cell carcinoma sequence_alteration 2.92% (4/137) 1 entry
ENSG00000072501 SMC1A ependymoma conservative_inframe_deletion 2.174% (1/46) 1 entry
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000072501 SMC1A SARC 0.0074 high
ENSG00000072501 SMC1A STAD 0.0028 low
ENSG00000072501 SMC1A CHOL 0.045 low
ENSG00000072501 SMC1A PAAD 0.036 high
ENSG00000072501 SMC1A UCEC 0.049 low
ENSG00000072501 SMC1A ACC 0.029 high
ENSG00000072501 SMC1A LGG 0.00011 high
ENSG00000072501 SMC1A LUSC 0.049 low
ENSG00000072501 SMC1A KIRP 0.033 high
ENSG00000072501 SMC1A LUAD 0.026 high
ENSG00000072501 SMC1A THYM 0.0015 low
ENSG00000072501 SMC1A OV 0.028 high
ENSG00000072501 SMC1A KIRC 0.00082 low
ENSG00000072501 SMC1A LIHC 0.0013 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency