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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GH1 Gene

protein-coding GIFtS: 63
GCID: GC17M061994

growth hormone 1

Explore 197 diseases affiliated with
GH1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Growth Hormone 1¹ ² ³		Pituitary Growth Hormone² ³
GH¹ ² ³		IGHD1B² ⁵
GH-N¹ ² ³		Somatotropin¹
GHN¹ ² ⁵		Growth Hormone³
HGH-N¹

External Ids:	HGNC: 4261¹	Entrez Gene: 2688²	Ensembl: ENSG00000259384⁷	OMIM: 139250⁵	UniProtKB: P01241³

Export aliases for GH1 gene to outside databases

Previous GC identifers: GC17U990034 GC17M064420 GC17M062292 GC17M062424 GC17M062467 GC17M059348 GC17M057362

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GH1:

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)

UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241

Function: Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the

liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It

also stimulates amino acid uptake and protein synthesis in muscle and other tissues

Gene Wiki entry for GH1 (Growth hormone 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GH1 gene promoter:
NRSF form 1 POU3F1 HNF-4alpha2 HNF-4alpha1 E47 Arnt HFH-1 Hand1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GH1 promoter sequence

Search SABiosciences Chromatin IP Primers for GH1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GH1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24.2 Ensembl cytogenetic band: 17q23.3 HGNC cytogenetic band: 17q22-q24

GH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GH1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M061994: view genomic region (about GC identifiers)

Start:	61,994,560 bp from pter	End:	61,996,198 bp from pter
Size:	1,639 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241 (See protein sequence)

Recommended Name: Somatotropin precursor

Size: 217 amino acids; 24847 Da

Subunit: Monomer, dimer, trimer, tetramer and pentamer, disulfide-linked or non-covalently associated, in homopolymeric

and heteropolymeric combinations. Can also form a complex either with GHBP or with the alpha2-macroglobulin complex

Subcellular location: Secreted

Miscellaneous: Circulating GH shows a great heterogeneity due to alternative splicing, differential post-translational

modifications of monomeric forms, oligomerization, optional binding to 2 different GH-binding proteins, and

potentially proteolytic processing

6/9 PDB 3D structures from and Proteopedia for GH1 (see all 9):

1A22 (3D)

1AXI (3D)

1BP3 (3D)

1HGU (3D)

1HUW (3D)

1HWG (3D)

Secondary accessions: A6NEF6 Q14405 Q16631 Q5EB53 Q9HBZ1 Q9UMJ7 Q9UNL5

Alternative splicing: 5 isoforms: P01241-1 P01241-2 P01241-3 P01241-4 P01241-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GH1: NX_P01241

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01241

GH1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_000506.2 NP_072053.1 NP_072054.1 NP_072055.1 NP_072056.1

ENSEMBL proteins:

ENSP00000343791 ENSP00000408486 ENSP00000312673 ENSP00000339278

Reactome Protein details: P01241
Human Recombinant Protein Products:

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	GenScript Purified and Recombinant Proteins for GH1
	Novus Biologicals GH1 Proteins Novus Biologicals GH1 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for GH1
	Uscn Proteins for GH1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IDA	11549663

GH1 for ontologies About GeneDecksing

GH1 Antibody Products:

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	Novus Biologicals GH1 Antibodies
	Abcam antibodies for GH1
	Uscn Antibodies for GH1
	ThermoFisher Antibodies for GH1

Assay Products for GH1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for GH1 (Growth Hormone)
	GenScript Custom Assay Services for GH1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for GH1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GH1 for domains About GeneDecksing

4 InterPro domains/families:

IPR018116 Somatotropin_CS

IPR012351 4_helix_cytokine_core

IPR009079 4_helix_cytokine-like_core

IPR001400 Somatotropin

Graphical View of Domain Structure for InterPro Entry P01241

ProtoNet protein and cluster: P01241

1 Blocks protein family: IPB001400 Somatotropin hormone

UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241

Similarity: Belongs to the somatotropin/prolactin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241

Function: Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the

liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It

also stimulates amino acid uptake and protein synthesis in muscle and other tissues

Genatlas biochemistry entry for GH1:

growth hormone 1 (N),anabolic and lipolytic,released from the anterior pituitary in a pulsatile and circadian

manner,expressed in lymphocytes

miRNA Products:		OriGene 3'-UTR Clone (see all 5): GH1 Browse MicroRNA Expression Plasmids
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for GH1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GH1
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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for GH1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005131	growth hormone receptor binding	IPI	1549776
GO:0005148	prolactin receptor binding	IPI	7984244
GO:0005179	hormone activity	IEA	--
GO:0005515	protein binding	IPI	9353194
GO:0008083	growth factor activity	IPI	9360546

GH1 for ontologies About GeneDecksing

Animal Models:
7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Gh):

adipose tissue	endocrine/exocrine gland	growth/size	homeostasis/metabolism	liver/biliary system
nervous system	reproductive system

GH1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/28 super-pathways (see all 28) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptotic Pathways in Synovial Fibroblasts

8/14 pathways (see all 14)
Apoptotic Pathways in Synovial Fibroblasts	1.00	ERK5 Signaling	0.61
p53 Mediated Apoptosis	0.84	eIF2 Pathway	0.60
Mitochondrial Apoptosis	0.73	Rac1 Pathway	0.58
Telomerase Components in Cell Signaling	0.72	Nuclear Receptor Activation by Vitamin-A	0.57

GPCR Pathway

GPCR Pathway	1.00	Estrogen Pathway	0.55
Ras Pathway	0.62	Pancreatic Adenocarcinoma	0.55
Breast Cancer Regulation by Stathmin1	0.58	Paxillin Interactions	0.53
NFAT in Immune Response	0.58

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

JAK2 phosphorylation

	JAK2 phosphorylation	1.00			PRLR is phosphorylated at Ser-349	0.86
	Tyrosine phosphorylation of PRLR	0.86			PRLR activation	0.86

TGF-Beta Pathway

	TGF-Beta Pathway	1.00			JAK-STAT Pathway	0.57
	MAPK Family Pathway	0.60			JNK Pathway	0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for GH1

	Development Growth hormone signaling via PI3K/AKT and MAPK cascades
	Development Prolactin receptor signaling

5/56 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GH1 (see all 56)

	Nuclear Receptor Activation by Vitamin-A
	Paxillin Interactions
	Telomerase Components in Cell Signaling
	Mitochondrial Apoptosis
	Molecular Mechanisms of Cancer

2 GeneGo (Thomson Reuters) Pathways for GH1

	Development Prolactin receptor signaling
	Development Growth hormone signaling via PI3K/AKT and MAPK cascades

2 BioSystems Pathways for GH1

	Adipogenesis
	Endochondral Ossification

5/15 Reactome Pathways for GH1 (see all 15)

	PRLR activation
	Cytokine Signaling in Immune system
	JAK2 phosphorylation
	PRLR is phosphorylated at Ser-349
	Prolactin receptor signaling

3 Kegg Pathways (Kegg details for GH1):

	Cytokine-cytokine receptor interaction
	Neuroactive ligand-receptor interaction
	Jak-STAT signaling pathway

GH1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GH1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/91 Interacting proteins for GH1 (P01241^{1, 3} ENSP00000312673⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 91)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GHR	P10912¹^,³, ENSP00000230882⁴	EBI-1026046,EBI-286316 I2D: score=3 STRING: ENSP00000230882
HIST1H2BC	P62807³	I2D: score=1
HIST1H2BE	P62807³	I2D: score=1
HIST1H2BF	P62807³	I2D: score=1
HIST1H2BG	P62807³	I2D: score=1

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002092	NOT positive regulation of receptor internalization	IDA	9360546
GO:0007259	JAK-STAT cascade	IDA	8063815
GO:0010535	positive regulation of activation of JAK2 kinase activity	IDA	12552091
GO:0014068	positive regulation of phosphatidylinositol 3-kinase cascade	IDA	7782332
GO:0015758	glucose transport	IDA	9144201

GH1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GH1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GH1
UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241

Pharmaceutical: Available under the names Nutropin or Protropin (Genentech), Norditropin (Novo Nordisk), Genotropin

(Pharmacia Upjohn), Humatrope (Eli Lilly) and Saizen or Serostim (Serono). Used for the treatment of growth hormone

deficiency and for Turner's syndrome

10/132 Novoseek chemical compound relationships for GH1 gene (see all 132) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
octreotide	87.8	459	1424206 (9), 15935982 (8), 12608933 (6), 16003295 (6) (see all 99)
lanreotide	87	93	10090136 (5), 10468985 (4), 10822218 (4), 8027218 (4) (see all 34)
pegvisomant	84.1	49	16046586 (4), 11443205 (4), 18498055 (3), 11932303 (2) (see all 23)
acth	81	352	9876339 (7), 15163333 (7), 16832586 (5), 12379758 (4) (see all 99)
hexarelin	78.9	156	9067986 (12), 8977750 (8), 9231048 (7), 9186817 (7) (see all 28)
ghrp	77	146	9053785 (12), 8496311 (11), 8175966 (9), 11322505 (7) (see all 17)
pyridostigmine	70.2	154	1902484 (8), 2220258 (6), 2225476 (5), 1358762 (5) (see all 32)
glucose	69.5	643	15070919 (9), 7962288 (8), 12773135 (7), 15080775 (5) (see all 99)
bromocriptine	68.9	94	1574954 (4), 9509075 (4), 1674920 (4), 1395069 (4) (see all 37)
cabergoline	67.4	31	17530416 (4), 15638294 (3), 9024247 (2), 19439914 (2) (see all 16)

Search CenterWatch for drugs/clinical trials and news about GH1 / SOMA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GH1 gene (5 alternative transcripts):

NM_000515.3 NM_022559.2 NM_022560.2 NM_022561.2 NM_022562.2

Unigene Cluster for GH1:

Growth hormone 1

Hs.655229 [show with all ESTs]

Unigene Representative Sequence: CD516340

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000351388 ENST00000458650 ENST00000323322(uc002jdi.3 uc002jdj.3 uc002jdk.3 uc002jdl.3 uc002jdm.3 uc002jdn.3)

ENST00000342364 ENST00000579711

miRNA Products:		OriGene 3'-UTR Clone (see all 5): GH1 Browse OriGene MicroRNA Expression Plasmids
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GH1

Additional cDNA sequence:

AF110644.1 AF185611.1 AY613431.1 AY613432.1 BC062475.1 BC075012.2 BC075013.2 BC090045.1

V00519.1

24/67 DOTS entries (see all 67):

DT.91840785 DT.91964566 DT.95122564 DT.95278599 DT.91985433 DT.95273898 DT.91861058 DT.92057802

DT.97868481 DT.92012584 DT.92405319 DT.92054920 DT.100715588 DT.91899146 DT.100715496 DT.91728134

DT.100853872 DT.95191024 DT.120952114 DT.100729857 DT.95214250 DT.95336076 DT.91971970 DT.95231299

24/442 AceView cDNA sequences (see all 442):

CR619286 CR590632 CR612411 CR602006 CR623287 CR589999 CR613660 CR598246

CR592104 CR617268 CR598783 CR623229 CR599408 CR599883 CR619645 CR590972

CR621080 CR610286 CR601031 CR594159 CR606291 CR593623 CR610932 CR609656

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GH1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See GH1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GH1

SOURCE GeneReport for Unigene cluster: Hs.655229

SABiosciences Expression via Pathway-Focused PCR Array including GH1:

Obesity in human mouse rat

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In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for GH1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GH1 gene from 3/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SOMA_CHICK⁶	Somatotropin	56(a)	1 → many	27(1522166-1526523)
lizard (Anolis carolinensis)	Reptilia	--	--	49(a)	1 → many	6(63429195-63436554)
zebrafish (Danio rerio)	Actinopterygii	gh1⁶ smtla⁶ (see all 3)	somatolactin alpha (see all 3)	35(a) 25(a) (see all 3)	1 ↔ many possible ortholog (see all 3)	3(22540799-22545974) 18(46620558-46629935)

ENSEMBL Gene Tree for GH1 (if available)
TreeFam Gene Tree for GH1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GH1 gene

GH2² PRL² CSH2² CSH1² CSHL1²

4 SIMAP similar genes for GH1 using alignment to 7 protein entries: SOMA_HUMAN (see all proteins):

GH2 CSHL1 CSH1 CSH2

GH1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137853222^1,2	C	pathogenic	59189546(-)	`CCTCTC/G/TTTTCT`	9	S C F	int¹ mis¹		1		NA	4552
rs71640277^1,2	C	pathogenic	59189602(-)	`AATCCA/C/GTGAGT`	5	--	spd¹ int¹		0	--	--	--	--
rs60590949^1,2	C,	--	57362099(+)	`GGAGGC/TGGAGA`	5	--	ds500¹		1		WA	2
rs113139510^1,2		--	57362133(+)	`ACTGCT/ACTCCA`	5	--	ds500¹		1		CSA	2
rs4080076^1,2	C,F,H,	--	57362490(-)	`ACAAAC/ATCACA`	10	/K /N /I /L	mis¹		8		NS EA NA	788
rs61735356^1,2	C,F,	--	57362660(+)	`GAGAAT/AGGCCT`	5	--	int¹		2		NS WA	36
rs61735355^1,2	C,F,	--	57362676(+)	`ATTCAC/TGAGGG`	5	--	int¹		6		EU WA EA NS	184
rs77064472^1,2	C,	--	57362709(-)	`TGACCC/TAAGAG`	5	--	int¹		0	--	--	--	--
rs61735352^1,2	C,	--	57362755(+)	`TCTAAC/TACAGC`	5	--	int¹		5		EU WA EA NS	296
rs61762498^1,2	C,	--	57362800(-)	`GTGGCG/ACCAGG`	5	--	int¹		3		EU WA EA	148

HapMap Linkage Disequilibrium report for GH1 (61994560 - 61996198 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GH1
1 CNV: 67243
Human Gene Mutation Database (HGMD): GH1

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GH1

DNA2.0 Custom Variant and Variant Library Synthesis for GH1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GH1 for disorders           About GeneDecksing

OMIM gene information: 139250
OMIM disorders: 262400  612781  173100  262650
UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241

Defects in GH1 are a cause of growth hormone deficiency isolated type 1A (IGHD1A) [MIM:262400]; also known as

pituitary dwarfism I. IGHD1A is an autosomal recessive deficiency of GH which causes short stature. IGHD1A patients

have an absence of GH with severe dwarfism and often develop anti-GH antibodies when given exogenous GH

Defects in GH1 are a cause of growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]; also known as

dwarfism of Sindh. IGHD1B is an autosomal recessive deficiency of GH which causes short stature. IGHD1B patients have

low but detectable levels of GH. Dwarfism is less severe than in IGHD1A and patients usually respond well to exogenous

Defects in GH1 are the cause of Kowarski syndrome (KWKS) [MIM:262650]; also known as pituitary dwarfism VI

Defects in GH1 are a cause of growth hormone deficiency isolated type 2 (IGHD2) [MIM:173100]. IGHD2 is an

autosomal dominant deficiency of GH which causes short stature. Clinical severity is variable. Patients have a

positive response and immunologic tolerance to growth hormone therapy

20/197 diseases for GH1 (see all 197): About MalaCards

growth hormone deficiency mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes short stature 11-beta-hydroxylase deficiency

insulin-like growth factor i deficiency acid-labile subunit floating-harbor syndrome pituitary-dependent cushing's disease

rabson-mendenhall syndrome growth hormone secreting pituitary adenoma monoclonal gammopathy of undetermined significance 21-hydroxylase deficiency

prader-willi syndrome x-linked hypophosphatemia isolated growth hormone deficiency smith-magenis syndrome

pituitary hormone deficiency pseudohypoparathyroidism type ia combined pituitary hormone deficiency nephropathic cystinosis

4 diseases from the University of Copenhagen DISEASES database for GH1:

Acromegaly Mastitis Hypoglycemia Adenoma

10/96 Novoseek disease relationships for GH1 gene (see all 96) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acromegaly	96	528	10427158 (5), 16625850 (5), 10197081 (5), 11701684 (4) (see all 99)
ighd ii	89	47	12720086 (3), 17073157 (3), 17726075 (3), 20351314 (2) (see all 17)
pituitary adenoma	88.6	120	2004472 (4), 1910948 (3), 1424206 (3), 8386895 (2) (see all 79)
growth hormone deficiency	85.3	54	12435888 (3), 17073157 (3), 17308409 (2), 19770650 (2) (see all 41)
short stature	84.1	189	2203797 (6), 7565946 (4), 12580940 (3), 11502828 (3) (see all 99)
pituitary tumors	81.7	56	15765032 (2), 17594522 (2), 17975024 (2), 1646455 (1) (see all 47)
laron syndrome	81.2	41	8726240 (2), 8977385 (2), 18462969 (2), 8808010 (1) (see all 25)
tsh deficiency	80.9	22	7852536 (2), 9626142 (1), 9699131 (1), 15472232 (1) (see all 20)
panhypopituitarism	80.4	18	10698595 (2), 11549674 (1), 12904605 (1), 16968807 (1) (see all 16)
hypopituitarism	79.7	36	11701703 (2), 9652904 (2), 19549748 (2), 11527085 (1) (see all 27)

Genatlas disease: GH1

dwarfism (GH-N deficiency,isolated),autosomal recessive and rare dominant forms

Genetic Association Database (GAD): GH1
Human Genome Epidemiology (HuGE) Navigator: GH1 (42 documents)
Tumor Gene Database (TGDB): GH1

Export disorders for GH1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GH1 gene, integrated from 9 sources (see all 2413):
(articles sorted by number of sources associating them with GH1)

Utopia: connect your pdf to the dynamic
world of online information

Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion. (PubMed id 11502836)^{1, 2, 9} Deladoey J.... Mullis P.E. (2001)
Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study. (PubMed id 16214911)^{1, 4, 9} Canzian F....Kaaks R. (2005)
Polymorphism in the growth hormone gene, weight in infancy, and adult bone mass. (PubMed id 15472182)^{1, 4, 9} Dennison E.M....Cooper C. (2004)
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. (PubMed id 15001589)^{1, 2, 9} Lewis M.D.... Cooper D.N. (2004)
Biologically inactive growth hormone caused by an amino acid substitution. (PubMed id 9276733)^{1, 2, 9} Takahashi Y.... Chihara K. (1997)
A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene. (PubMed id 8364549)^{1, 2, 9} Igarashi Y....Koga J. (1993)
Phosphoproteomic analysis of the human pituitary. (PubMed id 16807684)^{1, 2} Beranova-Giorgianni S.... Giorgianni F. (2006)
Association between fetal growth restriction and polymorphisms at sites -1 and +3 of pituitary growth hormone: a case-control study. (PubMed id 15691369)^{1, 4} Adkins R.M....Boyd T.K. (2005)
Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone. (PubMed id 16284391)^{1, 4} Mulhall C....Boyd N.F. (2005)
Association of polymorphisms and haplotypes in the human growth hormone 1 (GH1) gene with breast cancer. (PubMed id 16322331)^{1, 4} Wagner K....Forsti A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2688	HGNC: 4261	AceView: CSH1andGH2andCSH2	Ensembl:ENSG00000259384	euGenes: HUgn2688
ECgene: GH1	Kegg: 2688	H-InvDB: GH1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GH1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for GH1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GH1
Wikipedia	http://en.wikipedia.org/wiki/Growth_hormone

Intellectual Property for GH1 gene
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Patent Information for GH1 gene:
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GeneCards and IP:
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growth hormone 1

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Pituitary Dysfunction
EMPTY SELLA
Hyperinsulinemia
Pituitary Tumors
LARON SYNDROME
Oncocytoma
Gastrinoma
Dwarfism Pituitary
Glucose Intolerance
insulin sensitivity
Turners Syndrome
Macroprolactinoma
Hyperthyroidism
Dwarfism
HYPOTHYROIDISM PRIMARY
Hypoglycemia
Diabetes Mellitus Insulin-Dependent
Hypopituitarism
Cardiomyopathy
Malnutrition
SHORT STATURE
Marasmus
Insulinoma
Vipoma
ACTH Syndrome Ectopic
Hyperglycemia
Idiopathic osteoporosis
Pituitary-dependent Cushings disease
hormone deficiency
Osteopenia
FIBROUS DYSPLASIA
Tumors
IGHD II
metabolic disorder
pituitary adenoma nonfunctioning
ENDOCRINE DISORDER
Hyperinsulinism
Hypothalamic Tumors
Cushing Syndrome
Hyperandrogenism
Prostatic Hyperplasia
adenoma ACTH secreting
Pituitary Diseases
Critically Ill
insulin tolerance
nonfunctioning pituitary tumor
Anorexia Nervosa
Hyperprolactinemia
PITUITARY ADENOMA
IGF-I RESISTANCE
Renal cirrhosis
Prolactinoma
Growth Disorders
ACTH DEFICIENCY
Hypothyroidism
Acromegaly
Diabetes Mellitus
Gigantism
Microprolactinoma
hypothalamic disorder
Osteoporosis
Growth failure
Endocrine Effects
TSH secreting adenoma
Prolactin deficiency
Short Bowel Syndrome
Carcinoid
Craniopharyngioma
Glucagonoma
Intrauterine Growth Retardation
hypercortisolism
Panhypopituitarism
GONADAL DYSFUNCTION
Uremia
Neuroendocrine Tumors
Hypoplasia
growth hormone deficiency
Insulin Resistance
impaired glucose tolerance
Adenoma Chromophobe
Adenoma
OBESITY
Polycystic Ovary Syndrome
Puberty Precocious
GIGANTISM PITUITARY
TSH DEFICIENCY
Septo-Optic Dysplasia
Fibrous Dysplasia Polyostotic
Prostatic Diseases
Oligomenorrhea
Prader-Willi Syndrome
Growth retardation
Polycystic ovaries
HYPOADRENALISM
Hypogonadism
Choriocarcinoma

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GH1 Gene

growth hormone 1

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