| Nomenclature | Genomic Location |
| Symbol | Smc1a | Chromosome | X |
| Name | Structural maintenance of chromosomes 1A | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | ChrX: 35 Mbp |
| Molecular Function |
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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 proteinaceous ring within which sister chromatids can
be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister
chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during
mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM,
or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and
in the ATR/MSH2 branch of S-phase checkpoint.
Molecular Function Terms:
binding
chromatin binding
protein binding
protein dimerization activity
protein heterodimerization activity
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| Human Disease Association |
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Defects in SMC1A are the cause of Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]; also
known as Cornelia de Lange syndrome X-linked. CDLS is a clinically heterogeneous developmental disorder
associated with malformations affecting multiple systems. CDLS is characterized by facial dysmorphisms,
abnormal hands and feet, growth delay, cognitive retardation and various other malformations
including gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.
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1 GACCTGAAAAATCAGCATTTGGCCAAAAAATCTGAAGTAAATGACAAGAACCATGAAATG
61 GAAGAGATCCGCAAGAAGCTAGGGGGAGCCAACAAGGAGATGACACACCTGCAGAAGGAA
121 GTGACAGCCATTGAGACCAAGCTGGAACAGAAGCGCAGTGACCGTCACAACTTGCTGCAA
181 GCGTGCAAGATGCAAGACATCAAGCTGCCCCTCGCCAAAGGCACAATGGATGATATCAGC
241 CAGGAGGAGGGTGGCTCCCAGTCAGAGGAGACAGCCAGCAGCTCCCAGAGGACCTCCAAC
301 ATGTATGCCCGAGAAGCCCTCCTTGAGATAGACTATAGCGACCTCTCTGAAGACATGAAG
361 GATGTCCAGGCTGAAGATGAGATTAAGCAGGAGATGAACCAGCTGCAGCAGAAGCTGAAT
421 GAACAGCAAAGCATCTTGCAACGAATTGCCGCACCAAACATGAAGGCTATGGAGAAGCTG
481 GAGAGTGTGCGGGATAAGTTCCAGGAGACTTCTGATGAATTTGAGGCTGCTCGGAAACGT
541 GCCAAGAAAGCCAAGCAGGCCTTTGAGCAGATCAAAAAGGAGCGCTTTGACCGCTTCAAC
601 TCCTGCTTTGAGTCTGTGGCCACCAATATCGATGAGATCTACAAAGCTTTGTCCCGAAAC
661 AGTAGTGCCCAGGCCTTCCTGGGCCCTGAGAACCCTGAGGAGCCCTACCTGGATGGCATC
721 AATTACAACTGCGTAGCCCCTGGCAAGCGTTTCCGGCCCATGGACAACCTCTCTGGTGGG
781 GAGAAGACGGTGGCAGCCTTAGCTTTGCTCTTTGCCATTCACAGCTACAAACCAGCTCCA
841 TTTTTTGTCCTGGATGAGATTGATGCAGCTTTGGACAACACCAACATTGGAAAGGTGGCC
901 AATTACATCAAGGAGCAATCTACCTGCAACTTCCAGGCCATTGTTATTTCCTTGAAGGAG
961 GAATTTTACACCAAGGCTGAGAGTCTTATTGGTGTCTACCCTGAGCAAGGAGACTGTGTC
1021 ATCAGCAAGGTCCTGACTTTTGACCTCACCAAGTATCCTGATGCCAATCCAAACCCTAAT
1081 GATCAGTAG
| Predicted Protein Product |
DLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQKEVTAIETKLEQKRSDRHNLLQ
ACKMQDIKLPLAKGTMDDISQEEGGSQSEETASSSQRTSNMYAREALLEIDYSDLSEDMK
DVQAEDEIKQEMNQLQQKLNEQQSILQRIAAPNMKAMEKLESVRDKFQETSDEFEAARKR
AKKAKQAFEQIKKERFDRFNSCFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGI
NYNCVAPGKRFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVA
NYIKEQSTCNFQAIVISLKEEFYTKAESLIGVYPEQGDCVISKVLTFDLTKYPDANPNPN
DQ
| Protein Alignment to Mouse |
tr|A2AFQ5|A2AFQ5_MOUSE Structural maintenance of chromosomes 1A OS=Mus
musculus GN=Smc1a PE=2 SV=1
MGI:109292 Rad50 RAD50 homolog (S. cerevisiae) (Chr 11)
Length = 1233
Score = 1597 (567.2 bits), Expect = 8.6e-165, P = 8.6e-165
Identities = 312/362 (86%), Positives = 321/362 (88%)
Query: 1 DLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQKEVTAIETKLEQKRSDRHNLLQ 60
DLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQKEVTAIETKLEQKRSDRHNLLQ
Sbjct: 872 DLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQKEVTAIETKLEQKRSDRHNLLQ 931
Query: 61 ACKMQDIKLPLAKGTMDDIXXXXXXXXXXXXXXXXXXXXNMYAREALLEIDYSDLSEDMK 120
ACKMQDIKLPL+KGTMDDI ++YAREAL+EIDY DL ED+K
Sbjct: 932 ACKMQDIKLPLSKGTMDDISQEEGSSQGEESVSGSQRTSSIYAREALIEIDYGDLCEDLK 991
Query: 121 DVQAEDEIKQEMNQLQQKLNEQQSILQRIAAPNMKAMEKLESVRDKFQETSDEXXXXXXX 180
D QAE+EIKQEMN LQQKLNEQQS+LQRIAAPNMKAMEKLESVRDKFQETSDE
Sbjct: 992 DAQAEEEIKQEMNTLQQKLNEQQSVLQRIAAPNMKAMEKLESVRDKFQETSDEFEAARKR 1051
Query: 181 XXXXXXXXXXIKKERFDRFNSCFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGI 240
IKKERFDRFN+CFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGI
Sbjct: 1052 AKKAKQAFEQIKKERFDRFNACFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGI 1111
Query: 241 NYNCVAPGKRFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVA 300
NYNCVAPGKRFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVA
Sbjct: 1112 NYNCVAPGKRFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVA 1171
Query: 301 NYIKEQSTCNFQAIVISLKEEFYTKAESLIGVYPEQGDCVISKVLTFDLTKYPDANPNPN 360
NYIKEQSTCNFQAIVISLKEEFYTKAESLIGVYPEQGDCVISKVLTFDLTKYPDANPNPN
Sbjct: 1172 NYIKEQSTCNFQAIVISLKEEFYTKAESLIGVYPEQGDCVISKVLTFDLTKYPDANPNPN 1231
Query: 361 DQ 362
+Q
Sbjct: 1232 EQ 1233
Score = 80 (33.2 bits), Expect = 3.5, P = 0.97
Identities = 47/235 (20%), Positives = 91/235 (38%)
Query: 3 KNQHLAKKSEVNDK-NHEMEEIRKKLGGANKEMTHLQKEVTAIETKLEQKRSDRHNLLQA 61
KN+ + K + DK E++E +K+LG +E ++KE+ +++L QKR +
Sbjct: 245 KNKEIEKDKKRMDKVEDELKEKKKELGKMMREQQQIEKEIKEKDSELNQKRPQYIKAKEN 304
Query: 62 CKMQDIKLPLAKGTMDDIXXXXXXXXXXXXXXXXXXXXNMYAR----EALLEIDYS---D 114
+ KL AK ++ + AR E + E S D
Sbjct: 305 TSHKIKKLEAAKKSLQNAQKHYKKRKGDMDELEKEMLSVEKARQEFEERMEEESQSQGRD 364
Query: 115 LSEDMKDVQAEDEIKQEMNQ----LQQKLN----EQQSILQRIAAPNMKAMEKLESVRDK 166
L+ + V+ +K+E ++ L Q+L +Q++ R+ K +E ++ K
Sbjct: 365 LTLEENQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAKIKQK 424
Query: 167 FQETSDEXXXXXXXXXXXXXXXXXIKKERF--DRFNSCFESVATNIDEIYKALSR 219
+E + +++++ E IDEI K L++
Sbjct: 425 LREIEENQKRIEKLEEYITTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQ 479
Score = 64 (27.6 bits), Expect = 2.9, Sum P(2) = 0.95
Identities = 11/42 (26%), Positives = 27/42 (64%)
Query: 19 EMEEIRKKLGGANKEMTHLQKEVTAIETKLEQKRSDRHNLLQ 60
E+E++ K+L NKE+ +K + +E +L++K+ + +++
Sbjct: 234 EIEKLNKELASKNKEIEKDKKRMDKVEDELKEKKKELGKMMR 275
Score = 62 (26.9 bits), Expect = 2.9, Sum P(2) = 0.95
Identities = 21/56 (37%), Positives = 30/56 (53%)
Query: 114 DLSEDMKDVQAEDEIKQEMNQ---LQQKLNEQQSILQ----RIAAPNMKAMEKLES 162
+L E MK + E E++Q +Q LQ +L QS L+ R A N++ KLES
Sbjct: 684 ELKEQMKAKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLALNLQEKSKLES 739
Score = 60 (26.2 bits), Expect = 4.6, Sum P(2) = 0.99
Identities = 15/52 (28%), Positives = 32/52 (61%)
Query: 114 DLSEDMKDVQAE-DEIKQEMNQLQQKLNEQQSILQRIAAPNMKAMEKLESVR 164
+L+E+++ + DEI +E+NQ+ ++L + + Q + KA E +ES++
Sbjct: 458 ELTEEVEMAKRRIDEINKELNQVMEQLGDARIDRQESSRQQRKA-EIMESIK 508
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