| Type | Description |
|---|---|
| Definition | exophilin 5 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-17 10:09:00 | both mutations were homozygous and were predicted to result in the absence (EXPH5) or very low levels (COL17A1) of the corresponding protein products, with ultrastructural findings in the skin consistent with the presence of two subtypes, the simplex and the junctional forms, of the disease. | 30016581 |
| 2017-07-22 13:12:00 | Mutations in EXPH5 protein, human have been implicated in the physiopathology of Epidermolysis bullosa simplex. | 27384765 |
| 2016-12-17 10:07:00 | The results identify a further EXPH5 pedigree suggest that mutations in EXPH5 should be considered as a possible candidate gene for recessive or sporadic cases of mild generalized EBS. | 26211931 |
| 2014-04-12 10:51:00 | Here, we report the second family with two EXPH5 mutations in epidermolysis bullosa simplex. | 24005056 |
| 2013-02-16 10:26:00 | our findings identify an unexpected role for Slac2-b in inherited skin fragility and expand the clinical spectrum of human disorders of GTPase effector proteins. | 23176819 |
| Type | IDs |
|---|---|
| Synonymous | SLAC2-B, SLAC2B |
| Gene |
UniProtKB-ID:
EXPH5_HUMAN,
B4E2C3_HUMAN,
Q6AI59_HUMAN,
B4E1U8_HUMAN,
Q149M6_HUMAN
UniprotKB:
Q8NEV8,
B4E2C3,
Q6AI59,
B4E1U8,
Q149M6
UniParc:
UPI000013D692,
UPI0000456581,
UPI0000DA6CBC,
UPI00017A87AE,
UPI00017A874F,
UPI0000401F9B
EMBL:
AP000871,
AK303993,
AP005718,
AB014524,
AY099469,
AP002453,
BC113119,
AK304212,
CR627226,
BC117701
Ensembl:
ENSG00000110723
KO:
hsa:23086
|
| Nucleutide sequences |
EMBL-CDS:
AAM44402.1,
AAI13120.1,
BAA31599.1,
BAG65085.1,
CAH10364.1,
BAG64910.1,
AAI17702.1
Ensembl_TRS:
ENST00000525344,
ENST00000265843
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000265843,
ENSP00000432546
RefSeq:
XP_016872892.1,
XP_011540998.1,
XP_016872888.1,
XP_011541002.1,
XP_011541000.1,
XP_016872890.1,
NP_001294948.1,
NP_001138235.1,
NP_055880.2,
XP_016872886.1,
NP_001138236.1,
NP_001138237.1,
XP_016872891.1,
XP_016872889.1,
XP_016872893.1,
XP_016872887.1
|
| Others |
UniRef100:
UniRef100_Q8NEV8,
UniRef100_Q149M6,
UniRef100_B4E1U8,
UniRef100_B4E2C3,
UniRef100_Q6AI59
UniRef90:
UniRef90_Q5RB26,
UniRef90_Q8NEV8,
UniRef90_B4E1U8
UniRef50:
UniRef50_Q5RB26,
UniRef50_Q8NEV8,
UniRef50_B4E1U8
UniGene:
Hs.28540
CCDS:
CCDS76473.1,
CCDS8341.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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