| Type | Description |
|---|---|
| Definition | structural maintenance of chromosomes flexible hinge domain containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-12 13:25:00 | SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres. | 32080884 |
| 2020-12-12 13:22:00 | Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. | 32620854 |
| 2020-07-04 10:16:00 | The estimated intronic mutation frequency of almost 2% in Facioscapulohumeral dystrophy(FSHD2), as exemplified by the two novel intronic SMCHD1 variants identified here, emphasises the importance of screening for intronic variants in SMCHD1. | 31676591 |
| 2020-06-09 10:06:00 | Sequence analysis of SMCHD1 in patients with FSHD (facioscapulohumeral muscular dystrophy) found 82 variants localized in the introns, exons and 3'UTR region. pathogenic/likely pathogenic variants were identified in patients were predicted to disrupt the structure and conformation of SMCHD1, resulting in the loss of GHKL-ATPase and SMC hinge essential domains. These results are consistent with the FSHD symptomatology. | 31600781 |
| 2020-05-02 12:10:00 | analysis of the crystal structure of the human SMCHD1 N-terminal GHKL-ATPase/transducer module | 31312724 |
| Type | IDs |
|---|---|
| Synonymous | BAMS, FSHD2 |
| Gene |
UniProtKB-ID:
SMHD1_HUMAN
UniprotKB:
A6NHR9
UniParc:
UPI00017221C0,
UPI00001D7AAD,
UPI00001C0C6A
EMBL:
AK126324,
AK025646,
AP005061,
CR627458,
AP001011,
AB014550,
AL080138,
BC035774
Ensembl:
ENSG00000101596
KO:
hsa:23347
|
| Nucleutide sequences |
EMBL-CDS:
BAC86525.1,
BAB15202.1,
BAA31625.1,
CAB45732.1,
CAH10538.1
Ensembl_TRS:
ENST00000320876
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000326603
RefSeq:
XP_011523945.1,
XP_016881173.1,
NP_056110.2,
XP_011523944.1
|
| Others |
UniRef100:
UniRef100_A6NHR9
UniRef90:
UniRef90_A6NHR9
UniRef50:
UniRef50_A6NHR9
UniGene:
Hs.8118
CCDS:
CCDS45822.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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