| Type | Description |
|---|---|
| Definition | B9 domain containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2014-11-22 13:01:00 | describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome | 24886560 |
| 2011-10-22 10:16:00 | B9D1 is a novel Meckel syndrome gene | 21493627 |
| 2011-02-04 15:19:00 | Ciliary transition zone localization. Functions in a module with related proteins (MKS1 and B9D1) that cooperates with nephrocystins in ciliogenesis. | 18337471 |
| 2010-01-21 00:00:00 | MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1/EPPB9, MKSR-2/B9D2), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins | 19208769 |
| Type | IDs |
|---|---|
| Synonymous | B9, EPPB9, JBTS27, MKS9, MKSR1 |
| Gene |
UniProtKB-ID:
B9D1_HUMAN,
A0A2R8Y646_HUMAN,
B4DEW0_HUMAN,
A0A0B4J223_HUMAN,
A8MYG7_HUMAN,
B4DN64_HUMAN
UniprotKB:
Q9UPM9,
A0A2R8Y646,
B4DEW0,
A0A0B4J223,
A8MYG7,
B4DN64
UniParc:
UPI00017A6C70,
UPI00000731BE,
UPI0000E59EA5,
UPI0001AE6678,
UPI0000072F33,
UPI000020184C,
UPI00017A76F7
EMBL:
AB030506,
BC002944,
AK293815,
AK297782,
AC124066
Ensembl:
ENSG00000108641
KO:
hsa:27077
|
| Nucleutide sequences |
EMBL-CDS:
BAA82655.1,
AAH02944.1,
BAG57221.1,
BAG60126.1
Ensembl_TRS:
ENST00000268841,
ENST00000261499,
ENST00000647252,
ENST00000461069,
ENST00000395616
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000261499,
ENSP00000268841,
ENSP00000495045,
ENSP00000433359,
ENSP00000378978
RefSeq:
NP_001308148.1,
NP_001308143.1,
NP_001308146.1,
NP_001355698.1,
NP_001308147.1,
XP_005256667.1,
NP_001308145.1,
NP_001308144.1,
NP_001230404.1,
NP_001230402.1,
NP_056496.1,
NP_001317078.1
|
| Others |
UniRef100:
UniRef100_A0A0B4J223,
UniRef100_A8MYG7,
UniRef100_Q9UPM9,
UniRef100_B4DEW0,
UniRef100_A0A2R8Y646,
UniRef100_B4DN64
UniRef90:
UniRef90_Q9R1S0,
UniRef90_A0A2R8Y646,
UniRef90_A0A2J8J735,
UniRef90_A0A0B4J223,
UniRef90_B4DN64
UniRef50:
UniRef50_A0A2R8Y646,
UniRef50_B4DN64,
UniRef50_Q9R1S0,
UniRef50_A0A2J8J735
UniGene:
Hs.462445
CCDS:
CCDS82089.1,
CCDS11205.1
|
| {{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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