Entity Details

Primary name SMC1A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14683
EntryNameSMC1A_HUMAN
FullNameStructural maintenance of chromosomes protein 1A
TaxID9606
Evidenceevidence at protein level
Length1233
SequenceStatuscomplete
DateCreated2003-03-25
DateModified2021-06-02

Ontological Relatives

GenesSMC1A

GO terms

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GOName
GO:0000070 mitotic sister chromatid segregation
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000794 condensed nuclear chromosome
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003723 RNA binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005829 cytosol
GO:0006281 DNA repair
GO:0007062 sister chromatid cohesion
GO:0007064 mitotic sister chromatid cohesion
GO:0008278 cohesin complex
GO:0009314 response to radiation
GO:0016363 nuclear matrix
GO:0016887 ATP hydrolysis activity
GO:0019827 stem cell population maintenance
GO:0030893 meiotic cohesin complex
GO:0036033 mediator complex binding
GO:0046982 protein heterodimerization activity
GO:0051301 cell division
GO:0051321 meiotic cell cycle
GO:0072423 response to DNA damage checkpoint signaling
GO:0090307 mitotic spindle assembly
GO:0097431 mitotic spindle pole

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR003395 RecF/RecN/SMC, N-terminalDomainDomain
IPR010935 SMCs flexible hingeDomainDomain
IPR024704 Structural maintenance of chromosomes proteinFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR028468 Smc1, ATP-binding cassette domainDomainDomain
IPR029683 Structural maintenance of chromosomes protein 1A, metazoanFamilyFamily
IPR036277 SMCs flexible hinge superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
300590 OMIMCornelia de Lange syndrome 2 (CDLS2)A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. The disease is caused by variants affecting the gene represented in this entry.
301044 OMIMDevelopmental and epileptic encephalopathy 85 with or without midline brain defects (DEE85)An X-linked form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE85 is characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. Many patients have midline brain defects on brain imaging. The disease is caused by variants affecting the gene represented in this entry.

Interactions

88 interactions

InteractorPartnerSourcesPublicationsLink
SMC1A_HUMANMCM7_HUMANBioGRID, HPRD, IntAct16438930 22939629 details
SMC1A_HUMANATM_HUMANBioGRID, HPRD, UniProt11877376 11877377 details
SMC1A_HUMANSTAG1_HUMANBioGRID, DIP, IntAct, UniProt10931856 11076961 17112726 17113138 26344197 26496610 29867216 31010829 details
SMC1A_HUMANPCNA_HUMANUniProt26030842 details
SMC1A_HUMANRAD21_HUMANBioGRID, DIP, HPRD, IntAct, MINT, UniProt10931856 11590136 15737063 17112726 17113138 19308699 20818333 21043528 22145905 22885700 22939629 23242214 24981860 26344197 26496610 28514442 31010829 details
SMC1A_HUMANNDC80_HUMANBioGRID, HPRD, MINT23361318 26344197 9295362 details
SMC1A_HUMANMSH6_HUMANBioGRID14657349 details
SMC1A_HUMANMET_HUMANHPRD15546961 details
SMC1A_HUMANFGF14_HUMANBioGRID, IntAct32296183 details
SMC1A_HUMANAMOT_HUMANBioGRID, IntAct23414517 details
SMC1A_HUMANRPGR_HUMANBioGRID, HPRD16043481 details
SMC1A_HUMANSUMO2_HUMANBioGRID32786267 details
SMC1A_HUMANESR1_HUMANBioGRID20348541 details
SMC1A_HUMANRFC1_HUMANBioGRID, HPRD, IntAct16438930 26344197 details
SMC1A_HUMANPDS5B_HUMANBioGRID, DIP, IntAct, UniProt15855230 17112726 17113138 23242214 26344197 26496610 31010829 details
SMC1A_HUMANPDS5A_HUMANBioGRID, DIP, IntAct, UniProt15855230 17112726 17113138 23242214 26344197 26496610 31010829 details
SMC1A_HUMANCDCA5_HUMANBioGRID, DIP, IntAct22885700 23242214 26186194 26496610 31010829 details
SMC1A_HUMANPLK1_HUMANBioGRID, IntAct26344197 27173435 unassigned1312 details
SMC1A_HUMANMCM4_HUMANBioGRID, IntAct27173435 unassigned1312 details
SMC1A_HUMANPAXI1_HUMANBioGRID17925232 details
SMC1A_HUMANTHA_HUMANBioGRID17242407 details
SMC1A_HUMANWAPL_HUMANBioGRID, DIP, IntAct, UniProt17112726 17113138 20360068 23242214 26496610 31010829 details
SMC1A_HUMANSMC3_HUMANBioGRID, DIP, HPRD, IntAct, UniProt10931856 11076961 11590136 11877376 12759374 17112726 17113138 17349791 18832153 21111234 21880767 22885700 22939629 23242214 24981860 26344197 26496610 27173435 30021884 31010829 9789013 unassigned1312 details
SMC1A_HUMANSTAG2_HUMANBioGRID, DIP, IntAct, MINT, UniProt10931856 17112726 17113138 19629043 23242214 24981860 26344197 26496610 29263825 29867216 31010829 details
SMC1A_HUMANBRCA1_HUMANBioGRID, HPRD, UniProt11877377 25184681 26831064 details
SMC1A_HUMANSMRCD_HUMANBioGRID21549307 details
SMC1A_HUMANABCE1_HUMANBioGRID25659154 details
SMC1A_HUMANANR55_HUMANBioGRID31620119 details
SMC1A_HUMANDDX47_HUMANBioGRID31010829 details
SMC1A_HUMANMYC_HUMANBioGRID, IntAct17353931 29467282 details
SMC1A_HUMANUBP15_HUMANBioGRID, IntAct27173435 unassigned1312 details
SMC1A_HUMANEHMT2_HUMANBioGRID20670891 details
SMC1A_HUMANWFDC5_HUMANBioGRID17112726 details
SMC1A_HUMANNIPBL_HUMANBioGRID20720539 31010829 details
SMC1A_HUMANBRD4_HUMANBioGRID24945803 31239290 32416067 details
SMC1A_HUMANRRP5_HUMANBioGRID31010829 details
SMC1A_HUMANHNRH1_HUMANBioGRID31010829 details
SMC1A_HUMANDPOLA_HUMANBioGRID, HPRD, IntAct16438930 details
SMC1A_HUMANSYCP3_HUMANBioGRID12759374 details
SMC1A_HUMANKDM1B_HUMANBioGRID20670891 details
SMC1A_HUMANRN126_HUMANBioGRID26508657 details
SMC1A_HUMANMCM6_HUMANBioGRID, HPRD, IntAct16438930 27173435 unassigned1312 details
SMC1A_HUMANTF3C4_HUMANBioGRID, IntAct27173435 unassigned1312 details
SMC1A_HUMANCTF18_HUMANBioGRID12930902 details
SMC1A_HUMANPHF1_HUMANBioGRID18385154 details
SMC1A_HUMANRPB1_HUMANBioGRID21880767 details
SMC1A_HUMANSF3B1_HUMANBioGRID31010829 details
SMC1A_HUMANATRX_HUMANBioGRID, UniProt20159591 details
SMC1A_HUMANU520_HUMANBioGRID31010829 details
SMC1A_HUMANCTCF_HUMANBioGRID, MINT18219272 details
SMC1A_HUMANHDAC5_HUMANBioGRID21081666 details
SMC1A_HUMANEP300_HUMANBioGRID24945803 details
SMC1A_HUMANMSH2_HUMANHPRD14657349 details
SMC1A_HUMANSTAG3_HUMANBioGRID11483963 details
SMC1A_HUMANEFMT3_HUMANBioGRID23349634 details
SMC1A_HUMANNS1BP_HUMANBioGRID, IntAct27173435 unassigned1312 details
SMC1A_HUMANDCA15_HUMANBioGRID31452512 details
SMC1A_HUMANHSF1_HUMANBioGRID, IntAct27173435 unassigned1312 details
SMC1A_HUMANNUMA1_HUMANBioGRID, HPRD11590136 details
SMC1A_HUMANCDK8_HUMANBioGRID20720539 details
SMC1A_HUMANSGO1_HUMANDIP23242214 details
SMC1A_HUMANFBX6_HUMANBioGRID22268729 details
SMC1A_HUMANU5S1_HUMANBioGRID28515276 31010829 details
SMC1A_HUMANDSRAD_HUMANBioGRID31010829 details
SMC1A_HUMANNSE2_HUMANBioGRID22751501 details
SMC1A_HUMANDERL1_HUMANBioGRID28137758 details
SMC1A_HUMANNEK6_HUMANIntAct17353931 details
SMC1A_HUMANMLH1_HUMANBioGRID17148452 details
SMC1A_HUMANSIR6_HUMANBioGRID24169447 details
SMC1A_HUMANJIP4_HUMANBioGRID, IntAct27173435 unassigned1312 details
SMC1A_HUMANRAE1L_HUMANBioGRID, DIP18832153 details
SMC1A_HUMANSF3B3_HUMANBioGRID22939629 26344197 31010829 details
SMC1A_HUMANHSP7C_HUMANBioGRID31010829 details
SMC1A_HUMANSMCA5_HUMANBioGRID12198550 details
SMC1A_HUMANEP15R_HUMANBioGRID, IntAct27173435 unassigned1312 details
SMC1A_HUMANSRRM1_HUMANBioGRID16159877 details
SMC1A_HUMANMCM2_HUMANBioGRID, IntAct27173435 unassigned1312 details
SMC1A_HUMANTHB_HUMANBioGRID17242407 details
SMC1A_HUMANBARD1_HUMANBioGRID16391231 details
SMC1A_HUMANSMC1A_HUMANBioGRID16438930 18832153 details
SMC1A_HUMANAIRE_HUMANBioGRID20085707 details
SMC1A_HUMANBLM_HUMANHPRD11877377 details
SMC1A_HUMANMGMT_HUMANBioGRID16226712 details
SMC1A_HUMANH2AX_HUMANBioGRID26095369 details
SMC1A_HUMANRBM15_HUMANBioGRID31010829 details
SMC1A_HUMANATR_HUMANBioGRID15640246 details
SMC1A_HUMANTRI29_HUMANBioGRID26095369 details
SMC1A_HUMANPRP31_HUMANBioGRID31010829 details