| Type | Description |
|---|---|
| Definition | immunoglobulin superfamily member 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-06 11:37:00 | IGSF1 defect was the leading genetic cause of Congenital Isolated TSH Deficiency. | 31504637 |
| 2020-02-15 10:05:00 | somatotrope neurosecretory hyperfunction in IGSF1-deficient humans and mice. | 31650157 |
| 2018-02-17 11:43:00 | A novel mutation (c.2713C>T, p.Q905X) of the IGSF1 gene was identified that causes congenital central hypothyroidism in a Japanese family. The findings further expand the clinical heterogeneity of this entity. | 27762734 |
| 2018-02-17 11:10:00 | We identified a novel insertion mutation in the IGSF1 gene and further delineated the phenotype of the IGSF1-deficiency syndrome. Our findings indicate a possible association between an IGSF1 mutation and neurological phenotypes. | 27310681 |
| 2017-10-14 12:16:00 | Individuals with identical IGSF1 deletions can exhibit variable pituitary hormone deficiencies, of which overt TSH deficiency is the most consistent feature | 27146357 |
| Type | IDs |
|---|---|
| Synonymous | CHTE, IGCD1, IGDC1, INHBP, PGSF2, p120 |
| Gene |
UniProtKB-ID:
IGSF1_HUMAN
UniprotKB:
Q8N6C5
UniParc:
UPI0000070547,
UPI0000227E76,
UPI0000E0C769,
UPI0000072C5E
EMBL:
AF034198,
AB058894,
AB002362,
AL137369,
AL135784,
AK226008,
AL590806,
Y10523
Ensembl:
ENSG00000147255
KO:
hsa:3547
|
| Nucleutide sequences |
EMBL-CDS:
BAA20819.2,
BAB40235.1,
AAC52057.1,
CAB70713.1,
CAA71535.1
Ensembl_TRS:
ENST00000361420,
ENST00000651556,
ENST00000370910,
ENST00000370901,
ENST00000370903,
ENST00000370900,
ENST00000370904
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359947,
ENSP00000355010,
ENSP00000359941,
ENSP00000359937,
ENSP00000498789,
ENSP00000359940,
ENSP00000359938
RefSeq:
NP_001164432.1,
NP_001546.2,
NP_001164434.1,
XP_011529636.1,
NP_001164433.1,
XP_011529635.1,
NP_991402.1,
XP_011529632.1
|
| Others |
UniRef100:
UniRef100_Q8N6C5
UniRef90:
UniRef90_Q8N6C5
UniRef50:
UniRef50_Q8N6C5
UniGene:
Hs.22111
CCDS:
CCDS55491.1,
CCDS55490.1,
CCDS14629.1,
CCDS14630.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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