Seroatlas · Human Serome Atlas

GH1

Somatotropin

Also known as: GH, GH-N, GHN, hGH-N, SOMA_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P01241
Gene
GH1
Ensembl
ENSG00000259384
Chromosome
17
Canonical length
217 aa
Protein class
Cancer-related genes, Candidate cardiovascular disease genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Secretome location
Secreted to blood

OverviewNCBI Gene

The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

217 residues, UniProt reviewed canonical sequence.

>P01241|GH1
     1  MATGSRTSLL LAFGLLCLPW LQEGSAFPTI PLSRLFDNAM LRAHRLHQLA FDTYQEFEEA
    61  YIPKEQKYSF LQNPQTSLCF SESIPTPSNR EETQQKSNLE LLRISLLLIQ SWLEPVQFLR
   121  SVFANSLVYG ASDSNVYDLL KDLEEGIQTL MGRLEDGSPR TGQIFKQTYS KFDTNSHNDD
   181  ALLKNYGLLY CFRKDMDKVE TFLRIVQCRS VEGSCGF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GH1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.36
Highest tissue expression
56,120 nTPM

Expression across tissuesHPA

Tissue

  • pituitary gland: 56,120 nTPM
  • adrenal gland: 55 nTPM
  • heart muscle: 36 nTPM
  • skin: 31 nTPM
  • cerebellum: 30 nTPM
  • liver: 17 nTPM

Single-cell type

  • somatotrophs: 380 nCPM
  • gonadotrophs: 3.4 nCPM
  • pituitary stem cells: 1.3 nCPM
  • lactotrophs: 0.4 nCPM
  • t-cells: 0.4 nCPM
  • pituicytes/fscs: 0.3 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • hypothalamus: 0.6 nTPM
  • cerebellum: 0.1 nTPM
  • cerebral cortex: 0.1 nTPM
  • hippocampal formation: 0.1 nTPM
  • midbrain: 0.1 nTPM
  • pons: 0.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GH1.

Disease | AllUniProt

Conditions GH1 is implicated in, by any mechanism.

  • Growth hormone deficiency, isolated, 1A (IGHD1A) MIM:262400
  • Growth hormone deficiency, isolated, 1B (IGHD1B) MIM:612781
  • Kowarski syndrome (KWKS) MIM:262650
  • Growth hormone deficiency, isolated, 2 (IGHD2) MIM:173100

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 202 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.91
gnomAD pLI
0.03
gnomAD missense Z
-0.94
DepMap mean gene effect
0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GH1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GH1 as an antibody target. Whether an autoantibody or antibody against GH1 could matter depends on whether native GH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GH1 is annotated as secreted, so native GH1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label GH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GH1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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