| Type | Description |
|---|---|
| Definition | zinc finger protein 335 |
| Date | Results | Publications |
|---|---|---|
| 2019-11-16 10:09:00 | We describe, herein, 2 additional affected individuals with biallelic ZNF335 variants, 1 individual with a homozygous c.1399 T > C, p.(Cys467Arg) variant, and a second individual with compound heterozygous c.2171_2173delTCT, p.(Phe724del) and c.3998A > G, p.(Glu1333Gly) variants with the latter variant predicted to affect splicing..Our findings expand the clinical spectrum of ZNF335-associated microcephaly | 29652087 |
| 2018-01-27 11:28:00 | ZNF335 gene mutation is associated with extreme microcephaly with a severely simplified gyral pattern, decreased brain size, increased extra-axial space, enlarged ventricles, absence of the corpus callosum and delayed myelination | 26479514 |
| 2017-06-10 11:18:00 | In this article, we describe another family harboring ZNF335 mutations. The mutations were individually transmitted by her parents, indicating that the proband was compound heterozygous for the mutations. We speculate that invisible basal ganglia may be the key feature of ZNF335 mutations. | 27540107 |
| 2016-10-08 12:42:00 | we performed a meta-analysis of our data with the previous reports, identifying two further loci harbouring the ZNF335 and NIFA genes which now exceed genome-wide significance, taking the total number of CD susceptibility loci to 42. | 25920553 |
| 2014-04-12 10:46:00 | NIF-1 expression is associated with tumor grade in bladder cancer. | 23924207 |
| Type | IDs |
|---|---|
| Synonymous | MCPH10, NIF-1, NIF1, NIF2 |
| Gene |
UniProtKB-ID:
ZN335_HUMAN,
Q8IW09_HUMAN
UniprotKB:
Q9H4Z2,
Q8IW09
UniParc:
UPI00001BDB19,
UPI0000001BC3,
UPI0001838883
EMBL:
AK296989,
AL162458,
BC041331,
AK026157,
AF395833
Ensembl:
ENSG00000198026
KO:
hsa:63925
|
| Nucleutide sequences |
EMBL-CDS:
BAB15379.1,
AAN09900.1,
BAG59529.1,
AAH41331.2
Ensembl_TRS:
ENST00000322927
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000325326
RefSeq:
XP_011527281.1,
XP_016883501.1,
NP_071378.1,
XP_005260561.1
|
| Others |
UniRef100:
UniRef100_Q9H4Z2,
UniRef100_Q8IW09
UniRef90:
UniRef90_Q8IW09,
UniRef90_Q9H4Z2
UniRef50:
UniRef50_Q8IW09,
UniRef50_Q9H4Z2
UniGene:
Hs.174193
CCDS:
CCDS13389.1
|
| {{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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