KEGG   Homo sapiens (human): 1081
Entry
1081              CDS       T01001                                 
Symbol
CGA, CG-ALPHA, FSHA, GPA1, GPHA1, GPHa, HCG, LHA, TSHA
Name
(RefSeq) glycoprotein hormones, alpha polypeptide
  KO
K08522  glycoprotein hormones alpha chain
Organism
hsa  Homo sapiens (human)
Pathway
hsa04024  cAMP signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04912  GnRH signaling pathway
hsa04913  Ovarian steroidogenesis
hsa04917  Prolactin signaling pathway
hsa04918  Thyroid hormone synthesis
hsa04923  Regulation of lipolysis in adipocytes
hsa04929  GnRH secretion
hsa05320  Autoimmune thyroid disease
Network
nt06323  KISS1-GnRH-LH/FSH-E2 signaling
nt06361  Hypogonadotropic hypogonadism
  Element
N00873  GnRH-GnRHR-PLCB-PKC signaling pathway
N00875  Mutation-inactivated GnRHR to GnRH-GnRHR-PLCB-PKC signaling pathway
N00885  LHCGR-GNAS-PKA signaling pathway
N00922  FSHR-GNAS-PKA signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04024 cAMP signaling pathway
    1081 (CGA)
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    1081 (CGA)
 09150 Organismal Systems
  09152 Endocrine system
   04923 Regulation of lipolysis in adipocytes
    1081 (CGA)
   04929 GnRH secretion
    1081 (CGA)
   04912 GnRH signaling pathway
    1081 (CGA)
   04913 Ovarian steroidogenesis
    1081 (CGA)
   04917 Prolactin signaling pathway
    1081 (CGA)
   04918 Thyroid hormone synthesis
    1081 (CGA)
 09160 Human Diseases
  09163 Immune disease
   05320 Autoimmune thyroid disease
    1081 (CGA)
SSDB
Motif
Pfam: Hormone_6
Other DBs
NCBI-GeneID: 1081
NCBI-ProteinID: NP_000726
OMIM: 118850
HGNC: 1885
Ensembl: ENSG00000135346
Pharos: P01215(Tbio)
CPD: C18184 C18185 C18183 C18182
UniProt: P01215 Q6I9S8
Structure
LinkDB
Position
6:complement(87085498..87095106)
AA seq 116 aa
MDYYRKYAAIFLVTLSVFLHVLHSAPDVQDCPECTLQENPFFSQPGAPILQCMGCCFSRA
YPTPLRSKKTMLVQKNVTSESTCCVAKSYNRVTVMGGFKVENHTACHCSTCYYHKS
NT seq 351 nt   +upstreamnt  +downstreamnt
atggattactacagaaaatatgcagctatctttctggtcacattgtcggtgtttctgcat
gttctccattccgctcctgatgtgcaggattgcccagaatgcacgctacaggaaaaccca
ttcttctcccagccgggtgccccaatacttcagtgcatgggctgctgcttctctagagca
tatcccactccactaaggtccaagaagacgatgttggtccaaaagaacgtcacctcagag
tccacttgctgtgtagctaaatcatataacagggtcacagtaatggggggtttcaaagtg
gagaaccacacggcgtgccactgcagtacttgttattatcacaaatcttaa

KEGG   VARIANT: 2488v1
Entry
2488v1                      Variant                                
Name
FSHB mutation
Gene
FSHB  follicle stimulating hormone subunit beta [KO:K05250]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 136530
Disease
H01253  Isolated follicle-stimulating hormone deficiency
Reference
PMID:28392474
  Authors
Zheng J, Mao J, Cui M, Liu Z, Wang X, Xiong S, Nie M, Wu X
  Title
Novel FSHbeta mutation in a male patient with isolated FSH deficiency and infertility.
  Journal
Eur J Med Genet 60:335-339 (2017)
DOI:10.1016/j.ejmg.2017.04.004
Reference
PMID:11299519
  Authors
Layman LC
  Title
Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans.
  Journal
Semin Reprod Med 18:5-10 (2000)
DOI:10.1055/s-2000-13470
Reference
PMID:10773385
  Authors
Layman LC, McDonough PG
  Title
Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype.
  Journal
Mol Cell Endocrinol 161:9-17 (2000)
DOI:10.1016/S0303-7207(99)00217-8
LinkDB

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