| Type | Description |
|---|---|
| Definition | HESX homeobox 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:13:00 | Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. | 33451138 |
| 2018-07-07 11:26:00 | Study did not identify HESX1 and LHX3 mutations by Sanger in brazilian patients with combined pituitary hormone deficiency | 28734020 |
| 2017-09-23 12:36:00 | HESX1 mutations cause variable clinical features in congenital hypopituitarism patients, which suggests an influence of modifier genes or environmental factors on the phenotype | 27000987 |
| 2016-07-02 11:47:00 | A novel heterozygous mutation in the HESX1 gene and a novel homozygous mutation in the PROP1 gene were detected in 2 pedigrees with combined pituitary hormone deficiency | 26111865 |
| 2016-05-28 12:33:00 | investigated the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey | 25500790 |
| Type | IDs |
|---|---|
| Synonymous | ANF, CPHD5, RPX |
| Gene |
UniProtKB-ID:
HESX1_HUMAN,
A1LQR0_HUMAN
UniprotKB:
Q9UBX0,
A1LQR0
UniParc:
UPI000012C61F
EMBL:
U65437,
BC069515,
U82811,
AF059734,
BC112089,
CH471055,
BC093979
Ensembl:
ENSG00000163666
KO:
hsa:8820
|
| Nucleutide sequences |
EMBL-CDS:
AAB88275.1,
AAI12090.1,
AAB39561.1,
AAC24523.1,
AAH93979.1,
AAH69515.1,
EAW65334.1,
EAW65333.1
Gene_ORFName:
hCG_1640606
Ensembl_TRS:
ENST00000647958,
ENST00000295934
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000295934,
ENSP00000498190
RefSeq:
NP_001362987.1,
NP_001362990.1,
NP_001362988.1,
XP_005265583.1,
NP_001362989.1,
NP_003856.1
|
| Others |
UniRef100:
UniRef100_Q9UBX0
UniRef90:
UniRef90_Q9UBX0
UniRef50:
UniRef50_Q61658
UniGene:
Hs.171980
CCDS:
CCDS2881.1
|
| {{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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