Type | Description |
---|---|
Definition | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
Date | Results | Publications |
---|---|---|
2020-09-05 13:57:00 | Mechanism of platelet alpha-granule biogenesis: study of cargo transport and the VPS33B-VPS16B complex in a model system. | 31501156 |
2020-04-18 10:19:00 | The Rab-binding module of FERARI (factors for endosome recycling and Rab interactions) consists of Rab11FIP5 and rabenosyn-5, while the SNARE-interacting module comprises VPS45 and VIPAS39. | 31988382 |
2018-03-17 10:41:00 | A likely causal mutation was identified in the majority (61%), spanning many genes including ones that have only rarely been reported to cause cholestatic liver disease, e.g. TJP2 and VIPAS39 | 28039895 |
2016-12-17 11:18:00 | Genetic studies showed a homozygous mutation in the VIPAS39 gene. Making the definite diagnosis of the syndrome is important, while increased risk of mutation in other siblings highlights the importance of prenatal diagnosis. | 26808426 |
2014-07-12 10:06:00 | Our data suggest that the ARC syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion. | 23918659 |
Type | IDs |
---|---|
Synonymous | C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39 |
Gene |
UniProtKB-ID:
SPE39_HUMAN,
B4DMB7_HUMAN,
Q6IA61_HUMAN
UniprotKB:
Q9H9C1,
B4DMB7,
Q6IA61
UniParc:
UPI00017A796F,
UPI00017A7613,
UPI00000735EF
EMBL:
AK298354,
BC015054,
AK024661,
AK022769,
AK297388,
CH471061,
AK098254,
CR457294,
AK022925,
AF111168
Ensembl:
ENSG00000151445
KO:
hsa:63894
|
Nucleutide sequences |
EMBL-CDS:
AAH15054.1,
BAB14237.1,
BAB14310.1,
AAD09624.1,
BAG60598.1,
BAB14951.1,
BAG59829.1,
CAG33575.1,
BAG53601.1,
EAW81290.1,
EAW81289.1,
EAW81286.1,
EAW81288.1
Gene_ORFName:
hCG_22273
Ensembl_TRS:
ENST00000343765,
ENST00000448935,
ENST00000327028,
ENST00000553888,
ENST00000557658
|
Protein sequencees |
Ensembl_PRO:
ENSP00000452181,
ENSP00000452191,
ENSP00000339122,
ENSP00000404815,
ENSP00000313098
RefSeq:
XP_011535368.1,
NP_071350.2,
NP_001180244.1,
XP_016877069.1,
XP_024305456.1,
NP_001180246.1,
XP_016877070.1,
NP_001180245.1,
NP_001180243.1
|
Others |
UniRef100:
UniRef100_Q9H9C1,
UniRef100_B4DMB7
UniRef90:
UniRef90_A0A5F9DG06,
UniRef90_Q9H9C1
UniRef50:
UniRef50_Q9H9C1
UniGene:
Hs.16157
CCDS:
CCDS53905.1,
CCDS9862.1
|
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