Human Gene IGF1 (ENST00000337514.11_10) from GENCODE V47lift37
  Description: insulin like growth factor 1, transcript variant 4 (from RefSeq NM_000618.5)
Gencode Transcript: ENST00000337514.11_10
Gencode Gene: ENSG00000017427.17_14
Transcript (Including UTRs)
   Position: hg19 chr12:102,789,652-102,874,341 Size: 84,690 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr12:102,796,285-102,874,159 Size: 77,875 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:102,789,652-102,874,341)mRNA (may differ from genome)Protein (153 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q5U743_HUMAN
DESCRIPTION: SubName: Full=Insulin-like growth factor 1 (Somatomedin C); SubName: Full=Insulin-like growth factor 1 (Somatomedin C), isoform CRA_d;
SUBCELLULAR LOCATION: Secreted (By similarity).
SIMILARITY: Belongs to the insulin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IGF1
Diseases sorted by gene-association score: growth retardation with deafness and mental retardation due to igf1 deficiency* (1369), insulin-like growth factor i* (338), pituitary gland disease (36), uterine fibroid (28), diffuse idiopathic skeletal hyperostosis (23), leprechaunism (23), osteochondrosis (22), laron dwarfism (21), hyperpituitarism (20), muscle hypertrophy (20), craniopharyngioma (17), acromegaly (17), acid-labile subunit, deficiency of (17), anorexia nervosa (15), hypopituitarism (15), rabson-mendenhall syndrome (15), protein-energy malnutrition (15), pineal region choriocarcinoma (14), slipped capital femoral epiphysis (13), hyperinsulinism (13), hyperprolactinemia (13), pituitary adenoma (13), secondary adrenal insufficiency (12), polycystic ovary syndrome (12), turner syndrome (12), anovulation (12), osteoporosis (12), keratopathy (11), pituitary adenoma, growth hormone-secreting (11), diabetes mellitus, insulin-dependent (11), sheehan syndrome (11), glucose intolerance (11), microvascular complications of diabetes 1 (11), gonadal disease (10), growth hormone deficiency (10), hyperandrogenism (10), cerebral hypoxia (10), mixed cell adenoma (10), acidophil adenoma (10), pituitary tumors (10), malignant pineal area germ cell neoplasm (10), malignant ovarian cyst (9), prader-willi syndrome (9), spondyloepiphyseal dysplasia tarda (9), neuroaxonal dystrophy (9), pituitary hormone deficiency, combined, 2 (9), postpoliomyelitis syndrome (9), central precocious puberty (8), fibrous dysplasia (8), pallister-hall syndrome (8), peho syndrome (8), endocrine pancreas disease (8), isolated growth hormone deficiency (8), central nervous system organ benign neoplasm (8), ovarian disease (8), hyperglycemia (8), short bowel syndrome (7), thalassemia major (7), growth hormone deficiency, isolated, type ii (7), breast disease (7), glucocorticoid-induced osteoporosis (7), fetal macrosomia (7), sleep apnea (7), hormone producing pituitary cancer (6), idiopathic central precocious puberty (6), prostate cancer (6), pituitary adenoma, prolactin-secreting (6), growth hormone deficiency, isolated, type ib (6), fasting hypoglycemia (6), idiopathic juvenile osteoporosis (6), asbestos-related lung carcinoma (6), obstructive sleep apnea (6), microvascular complications of diabetes 5 (6), silver-russell syndrome (6), robinow syndrome (6), carcinoid syndrome (6), endometrial cancer (6), colorectal adenoma (6), exudative vitreoretinopathy 1 (6), hyperostosis (6), organ system benign neoplasm (5), chronic fatigue syndrome (5), pancreas disease (5), pellagra (5), hypothyroidism, congenital, nongoitrous 4 (5), acquired metabolic disease (5), endocrine organ benign neoplasm (5), glucose metabolism disease (5), sarcocystosis (5), acromesomelic dysplasia, maroteaux type (5), abetalipoproteinemia (5), mccune-albright syndrome, somatic, mosaic (5), traumatic brain injury (5), noonan syndrome 1 (5), sebaceous gland disease (5), opiate dependence (5), male reproductive organ cancer (5), meninges hemangiopericytoma (5), bone resorption disease (4), adenoma (4), pseudopapilledema (4), mutagen sensitivity (4), cell type benign neoplasm (4), rubeosis iridis (4), brain injury (4), persistent fetal circulation syndrome (4), breast cancer (4), hallermann-streiff syndrome (4), osteogenesis imperfecta, type i (4), diabetes mellitus, noninsulin-dependent (3), obesity (3), eye disease (3), motor neuron disease (2), osteosarcoma, somatic (2), chronic kidney failure (2), multiple myeloma (2), colorectal cancer (2), ewing sarcoma (2), hydrocephalus (2), bone remodeling disease (2), thyroid gland disease (2), overnutrition (1), amyotrophic lateral sclerosis 1 (1), dilated cardiomyopathy (1), retinal vascular disease (1), diamond-blackfan anemia (1), reproductive organ cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.29 RPKM in Cervix - Endocervix
Total median expression: 171.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.00182-0.159 Picture PostScript Text
3' UTR -1533.846633-0.231 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022341 - IGF-I
IPR016179 - Insulin-like
IPR022350 - Insulin-like_growth_factor
IPR022353 - Insulin_CS
IPR022352 - Insulin_family

Pfam Domains:
PF00049 - Insulin/IGF/Relaxin family

SCOP Domains:
56994 - Insulin-like

ModBase Predicted Comparative 3D Structure on Q5U743
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005179 hormone activity
GO:0008083 growth factor activity

Biological Process:
GO:0010469 regulation of receptor activity
GO:0010560 positive regulation of glycoprotein biosynthetic process
GO:0030166 proteoglycan biosynthetic process
GO:0050714 positive regulation of protein secretion
GO:0050821 protein stabilization

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space


-  Descriptions from all associated GenBank mRNAs
  X57025 - Human IGF-I mRNA for insulin-like growth factor I.
JD312446 - Sequence 293470 from Patent EP1572962.
JD566493 - Sequence 547517 from Patent EP1572962.
JD085244 - Sequence 66268 from Patent EP1572962.
JD183319 - Sequence 164343 from Patent EP1572962.
JD249364 - Sequence 230388 from Patent EP1572962.
JD140841 - Sequence 121865 from Patent EP1572962.
JD364028 - Sequence 345052 from Patent EP1572962.
JD301699 - Sequence 282723 from Patent EP1572962.
JD285981 - Sequence 267005 from Patent EP1572962.
JD056319 - Sequence 37343 from Patent EP1572962.
JD040690 - Sequence 21714 from Patent EP1572962.
JD301719 - Sequence 282743 from Patent EP1572962.
JD521607 - Sequence 502631 from Patent EP1572962.
JD428810 - Sequence 409834 from Patent EP1572962.
JD475691 - Sequence 456715 from Patent EP1572962.
JD505240 - Sequence 486264 from Patent EP1572962.
JD308183 - Sequence 289207 from Patent EP1572962.
JD420502 - Sequence 401526 from Patent EP1572962.
JD318042 - Sequence 299066 from Patent EP1572962.
JD321760 - Sequence 302784 from Patent EP1572962.
JD531751 - Sequence 512775 from Patent EP1572962.
JD566231 - Sequence 547255 from Patent EP1572962.
JD404273 - Sequence 385297 from Patent EP1572962.
JD333227 - Sequence 314251 from Patent EP1572962.
JD531750 - Sequence 512774 from Patent EP1572962.
JD299597 - Sequence 280621 from Patent EP1572962.
JD412939 - Sequence 393963 from Patent EP1572962.
JD037022 - Sequence 18046 from Patent EP1572962.
JD301266 - Sequence 282290 from Patent EP1572962.
JD315980 - Sequence 297004 from Patent EP1572962.
JD262715 - Sequence 243739 from Patent EP1572962.
JD565595 - Sequence 546619 from Patent EP1572962.
JD302894 - Sequence 283918 from Patent EP1572962.
JD184608 - Sequence 165632 from Patent EP1572962.
AB209184 - Homo sapiens mRNA for insulin-like growth factor 1 (somatomedin C); insulin-like growth factor 1 (somatomedia C) variant protein.
JD250017 - Sequence 231041 from Patent EP1572962.
BC152321 - Homo sapiens insulin-like growth factor 1 (somatomedin C), mRNA (cDNA clone MGC:157712 IMAGE:40129266), complete cds.
JD434375 - Sequence 415399 from Patent EP1572962.
JD376612 - Sequence 357636 from Patent EP1572962.
JD099036 - Sequence 80060 from Patent EP1572962.
JD038570 - Sequence 19594 from Patent EP1572962.
JD539448 - Sequence 520472 from Patent EP1572962.
JD281307 - Sequence 262331 from Patent EP1572962.
JD248482 - Sequence 229506 from Patent EP1572962.
JD094647 - Sequence 75671 from Patent EP1572962.
JD044002 - Sequence 25026 from Patent EP1572962.
JD061439 - Sequence 42463 from Patent EP1572962.
JD349272 - Sequence 330296 from Patent EP1572962.
JD430036 - Sequence 411060 from Patent EP1572962.
JD380614 - Sequence 361638 from Patent EP1572962.
JD333896 - Sequence 314920 from Patent EP1572962.
JD491582 - Sequence 472606 from Patent EP1572962.
JD163052 - Sequence 144076 from Patent EP1572962.
JD285702 - Sequence 266726 from Patent EP1572962.
JD249474 - Sequence 230498 from Patent EP1572962.
JD333997 - Sequence 315021 from Patent EP1572962.
JD286419 - Sequence 267443 from Patent EP1572962.
JD260687 - Sequence 241711 from Patent EP1572962.
JD263593 - Sequence 244617 from Patent EP1572962.
JD557195 - Sequence 538219 from Patent EP1572962.
JD553062 - Sequence 534086 from Patent EP1572962.
JD430026 - Sequence 411050 from Patent EP1572962.
JD040089 - Sequence 21113 from Patent EP1572962.
JD337088 - Sequence 318112 from Patent EP1572962.
JD508584 - Sequence 489608 from Patent EP1572962.
JD304345 - Sequence 285369 from Patent EP1572962.
JD217581 - Sequence 198605 from Patent EP1572962.
JD234425 - Sequence 215449 from Patent EP1572962.
JD056587 - Sequence 37611 from Patent EP1572962.
JD482851 - Sequence 463875 from Patent EP1572962.
JD297824 - Sequence 278848 from Patent EP1572962.
JD364716 - Sequence 345740 from Patent EP1572962.
JD232867 - Sequence 213891 from Patent EP1572962.
JD168270 - Sequence 149294 from Patent EP1572962.
JD079921 - Sequence 60945 from Patent EP1572962.
JD162857 - Sequence 143881 from Patent EP1572962.
JD511152 - Sequence 492176 from Patent EP1572962.
JD077060 - Sequence 58084 from Patent EP1572962.
JD310401 - Sequence 291425 from Patent EP1572962.
JD379167 - Sequence 360191 from Patent EP1572962.
JD360980 - Sequence 342004 from Patent EP1572962.
JD521187 - Sequence 502211 from Patent EP1572962.
JD552431 - Sequence 533455 from Patent EP1572962.
M27544 - Human insulin-like growth factor mRNA, complete cds.
JD288601 - Sequence 269625 from Patent EP1572962.
JD479965 - Sequence 460989 from Patent EP1572962.
M29644 - Human insulin-like growth factor I mRNA, complete cds.
X00173 - Homo sapiens mRNA for insulin-like growth factor 1A precursor, complete CDS.
JD545515 - Sequence 526539 from Patent EP1572962.
JD180938 - Sequence 161962 from Patent EP1572962.
X56773 - H.sapiens mRNA for IGF-1a.
JD551527 - Sequence 532551 from Patent EP1572962.
M37484 - Human insulin-like growth factor I (IGF-I) mRNA, complete cds.
BC160082 - Synthetic construct Homo sapiens clone IMAGE:100064018, MGC:193197 insulin-like growth factor 1 (somatomedin C) (IGF1) mRNA, encodes complete protein.
CR541861 - Homo sapiens full open reading frame cDNA clone RZPDo834H0732D for gene IGF1, insulin-like growth factor 1 (somatomedin C); complete cds, incl. stopcodon.
AK312231 - Homo sapiens cDNA, FLJ92522, Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1),mRNA.
AB384874 - Synthetic construct DNA, clone: pF1KB3912, Homo sapiens IGF1 gene for insulin-like growth factor IA precursor, complete cds, without stop codon, in Flexi system.
U40870 - Human alternatively spliced human insulin-like growth factor-I (IGF-I) mRNA, partial cds.
E01349 - cDNA encoding ppIGF-1B.
M11568 - Human insulin-like growth factor IB (IGF-IB) cDNA to mRNA.
X56774 - H.sapiens mRNA for IGF-1b.
BC148266 - Homo sapiens IGF1 protein (IGF1) mRNA, partial cds.
JD418891 - Sequence 399915 from Patent EP1572962.
JD252763 - Sequence 233787 from Patent EP1572962.
JD503220 - Sequence 484244 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_badPathway - Regulation of BAD phosphorylation
h_igf1Pathway - IGF-1 Signaling Pathway
h_erythPathway - Erythrocyte Differentiation Pathway
h_ghrelinPathway - Ghrelin: Regulation of Food Intake and Energy Homeostasis
h_hdacPathway - Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)
h_igf1mtorpathway - Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway
h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart)
h_longevityPathway - The IGF-1 Receptor and Longevity

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000337514.1, ENST00000337514.10, ENST00000337514.2, ENST00000337514.3, ENST00000337514.4, ENST00000337514.5, ENST00000337514.6, ENST00000337514.7, ENST00000337514.8, ENST00000337514.9, hCG_21873 , IGF1 , NM_000618, Q5U743, Q5U743_HUMAN, uc317uuc.1, uc317uuc.2
UCSC ID: ENST00000337514.11_10
RefSeq Accession: NM_000618.5
Protein: Q5U743

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.