| Entry |
|
|---|
| Gene name |
SMC3, BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1
|
|---|
| Definition |
structural maintenance of chromosomes 3
|
|---|
| Orthology |
| structural maintenance of chromosome 3 (chondroitin sulfate proteoglycan 6) |
|
|---|
| Organism |
|
|---|
| Pathway |
|
|---|
| Disease |
| Cornelia de Lange syndrome (CdLS) |
|
|---|
| Class |
Cellular Processes; Cell growth and death; Cell cycle [PATH: hsa04110]
Cellular Processes; Cell growth and death; Oocyte meiosis [PATH: hsa04114]
 |
|---|
| SSDB |
   |
|---|
| Motif |
 |
|---|
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
|---|
| Position |
10q25
|
|---|
| AA seq |
1217 aa  
MYIKQVIIQGFRSYRDQTIVDPFSSKHNVIVGRNGSGKSNFFYAIQFVLSDEFSHLRPEQ
RLALLHEGTGPRVISAFVEIIFDNSDNRLPIDKEEVSLRRVIGAKKDQYFLDKKMVTKND
VMNLLESAGFSRSNPYYIVKQGKINQMATAPDSQRLKLLREVAGTRVYDERKEESISLMK
ETEGKREKINELLKYIEERLHTLEEEKEELAQYQKWDKMRRALEYTIYNQELNETRAKLD
ELSAKRETSGEKSRQLRDAQQDARDKMEDIERQVRELKTKISAMKEEKEQLSAERQEQIK
QRTKLELKAKDLQDELAGNSEQRKRLLKERQKLLEKIEEKQKELAETEPKFNSVKEKEER
GIARLAQATQERTDLYAKQGRGSQFTSKEERDKWIKKELKSLDQAINDKKRQIAAIHKDL
EDTEANKEKNLEQYNKLDQDLNEVKARVEELDRKYYEVKNKKDELQSERNYLWREENAEQ
QALAAKREDLEKKQQLLRAATGKAILNGIDSINKVLDHFRRKGINQHVQNGYHGIVMNNF
ECEPAFYTCVEVTAGNRLFYHIVDSDEVSTKILMEFNKMNLPGEVTFLPLNKLDVRDTAY
PETNDAIPMISKLRYNPRFDKAFKHVFGKTLICRSMEVSTQLARAFTMDCITLEGDQVSH
RGALTGGYYDTRKSRLELQKDVRKAEEELGELEAKLNENLRRNIERINNEIDQLMNQMQQ
IETQQRKFKASRDSILSEMKMLKEKRQQSEKTFMPKQRSLQSLEASLHAMESTRESLKAE
LGTDLLSQLSLEDQKRVDALNDEIRQLQQENRQLLNERIKLEGIITRVETYLNENLRKRL
DQVEQELNELRETEGGTVLTATTSELEAINKRVKDTMARSEDLDNSIDKTEAGIKELQKS
MERWKNMEKEHMDAINHDTKELEKMTNRQGMLLKKKEECMKKIRELGSLPQEAFEKYQTL
SLKQLFRKLEQCNTELKKYSHVNKKALDQFVNFSEQKEKLIKRQEELDRGYKSIMELMNV
LELRKYEAIQLTFKQVSKNFSEVFQKLVPGGKATLVMKKGDVEGSQSQDEGEGSGESERG
SGSQSSVPSVDQFTGVGIRVSFTGKQGEMREMQQLSGGQKSLVALALIFAIQKCDPAPFY
LFDEIDQALDAQHRKAVSDMIMELAVHAQFITTTFRPELLESADKFYGVKFRNKVSHIDV
ITAEMAKDFVEDDTTHG |
|---|
| NT seq |
3654 nt  +upstreamnt +downstreamnt
atgtacataaagcaggtgattatccagggttttcgaagttacagagatcaaacaattgta
gatcccttcagttcaaaacataatgtgattgtgggcagaaatggatctggaaaaagtaac
tttttttatgcaattcagtttgttctcagtgatgagtttagtcatcttcgtccagaacag
cggttggctttattgcatgaaggtactggtcctcgtgttatttctgcttttgtggagatt
atttttgataattcagacaaccggttaccaatcgataaagaggaagtttcacttcgaaga
gttattggtgccaaaaaggatcagtatttcttagacaagaagatggtcacgaaaaatgat
gtgatgaacctccttgaaagcgctggtttttctcgaagcaatccttattatattgttaaa
caaggaaagatcaaccagatggcaacagcaccagattctcagagattaaagctattaaga
gaagtagctggtactagagtgtatgacgaacgaaaggaagaaagcatctccttaatgaaa
gaaacagagggcaaacgggaaaaaatcaatgagttgttaaaatacattgaagagagatta
catactctagaggaagaaaaggaagaactagctcagtatcagaagtgggataaaatgaga
cgagccctggaatataccatttacaatcaggaacttaacgagactcgtgccaaacttgat
gagctttctgctaagcgagagactagtggagaaaaatccagacaattaagagatgctcag
caggatgcaagagataaaatggaggatatcgaacgccaagttagagaattgaaaacaaaa
atttcagctatgaaagaagaaaaagaacagcttagtgctgaaagacaagagcagattaag
cagaggactaagttggagcttaaagccaaggatttacaagatgaactagcaggcaatagt
gaacaaaggaaacgtttattaaaagagaggcagaagctgcttgaaaaaatagaagaaaag
cagaaagaactggcagaaacagaacccaaattcaacagtgtgaaagagaaagaagaacga
ggaattgctagattggctcaagctacccaggaaagaacggatctttatgcaaagcagggt
cgaggaagccagtttacatcaaaagaagaaagggataagtggattaaaaaggaactcaag
tctttagatcaggctattaatgacaagaaaagacagattgctgctatacataaggatttg
gaagacactgaagcaaataaagagaaaaatctggagcagtataataaactggaccaggat
cttaatgaagtcaaagctcgagtagaagaactggacagaaaatattacgaagtaaaaaat
aagaaagatgaactacaaagtgaaagaaactacttgtggagagaagagaatgcagaacag
caagcacttgctgctaaaagagaagatcttgaaaagaagcaacaacttcttagagcagca
acaggaaaggccattttaaatggaatagacagcataaacaaagtgctagaccacttccgt
cgaaaaggaataaaccagcatgttcaaaatggctatcatggtattgtaatgaataacttt
gaatgtgaaccagctttctacacatgcgtggaagtcactgctggaaacaggttattttat
cacattgttgattcagatgaagtcagcacgaagattttaatggagtttaataaaatgaat
cttcctggagaggttacttttctgcctcttaacaagttagatgtcagggatacagcctat
cctgaaaccaatgatgctattcctatgatcagcaaactgaggtacaatcccagatttgac
aaagctttcaaacatgtgtttggaaagactcttatttgtcgtagcatggaagtttcaacc
cagctggcccgtgctttcactatggactgtattactttggaaggtgaccaagtcagccat
cggggtgctctaactgggggttattatgacacaaggaagtctcgacttgaattgcaaaaa
gatgttagaaaagcagaagaagaactaggtgaacttgaagcaaagctcaatgaaaacctg
cgcagaaatattgaaaggattaataatgaaattgatcagttgatgaaccaaatgcaacag
atcgagacccagcaaaggaaatttaaagcatctagagatagcatattatcagaaatgaag
atgctaaaagagaagaggcagcagtcagagaaaaccttcatgcctaagcaacgtagctta
cagagtttggaggcaagcttgcatgctatggagtctaccagagagtcattgaaagcagaa
ctgggaactgatttgctttctcaactgagtttggaagatcagaagagagtagatgcactg
aatgatgagattcgtcaacttcagcaggaaaacagacagttgctaaatgaaagaattaaa
ttagaaggtattattactcgagtagagacttatctcaatgagaatctgagaaaacgcttg
gaccaagtagaacaggaacttaatgagctgagagagacagaagggggtactgttctcaca
gccacaacatcagaacttgaagccatcaataaaagagtaaaagacactatggcacgatca
gaagatttggacaattccattgataaaacagaagctggaattaaggagcttcagaagagt
atggagcgctggaaaaatatggaaaaagaacatatggatgctataaatcatgatactaaa
gaactggaaaagatgacaaatcggcaaggcatgctattgaagaagaaagaagagtgtatg
aagaaaattcgagaacttggatcacttccccaggaagcatttgaaaagtaccagacactg
agcctcaaacagttgtttcgaaaacttgagcagtgcaacacagaattaaagaagtacagc
catgttaacaaaaaggctttggatcagtttgtaaatttctccgagcagaaagaaaagtta
ataaagcgtcaagaagagttagataggggttacaaatcaatcatggaactgatgaatgta
cttgaacttcggaaatatgaagctattcagttaactttcaaacaggtatctaagaacttc
agtgaagtattccagaagttagtacctggtggcaaagctactttggtgatgaagaaagga
gatgtggagggcagtcagtctcaagatgaaggagaagggagtggtgagagtgagaggggt
tctggctcacaaagcagtgtcccatcagttgaccagtttactggagttggaattagggtg
tcatttacaggaaaacaaggtgaaatgagagaaatgcaacagctttcaggtggacagaaa
tccttggtagcccttgctctgatttttgccattcagaaatgtgacccggctccattttac
ttgtttgatgaaattgaccaggctctggatgctcagcacagaaaggctgtgtcagatatg
attatggaacttgctgtacatgctcagtttattacaactacttttaggcctgaactgctt
gagtcagctgacaaattctatggtgtaaagttcagaaataaggttagtcatattgatgtg
atcacagcagagatggccaaagactttgtagaagatgataccacacatggttaa |
|---|
