Details for: GDF1

Gene ID: 2657

Symbol: GDF1

Ensembl ID: ENSG00000130283

Description: growth differentiation factor 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 11.38
    Marker Score: 6306
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 6.98
    Marker Score: 9626
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 5.61
    Marker Score: 3186
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 4.81
    Marker Score: 2533
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 2.4
    Marker Score: 1004
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 2.07
    Marker Score: 1366
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.75
    Marker Score: 2051
  • Cell Name: mast cell (CL0000097)
    Fold Change: 1.59
    Marker Score: 921.5
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.96
    Marker Score: 598
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.78
    Marker Score: 454
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.66
    Marker Score: 1260
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.66
    Marker Score: 703.5
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.63
    Marker Score: 1306
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.52
    Marker Score: 8103
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.5
    Marker Score: 1007
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.49
    Marker Score: 373
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.49
    Marker Score: 675
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.48
    Marker Score: 202
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.47
    Marker Score: 1259
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.45
    Marker Score: 235
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.44
    Marker Score: 811
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.42
    Marker Score: 363
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.41
    Marker Score: 121
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.4
    Marker Score: 176
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.39
    Marker Score: 107
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.39
    Marker Score: 111
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.39
    Marker Score: 2327
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.36
    Marker Score: 112.5
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.35
    Marker Score: 110
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.34
    Marker Score: 1403.5
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.34
    Marker Score: 374
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.29
    Marker Score: 175
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.29
    Marker Score: 116
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.28
    Marker Score: 285
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.28
    Marker Score: 184
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.25
    Marker Score: 66
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.25
    Marker Score: 135
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.25
    Marker Score: 714
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.25
    Marker Score: 112
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.25
    Marker Score: 78
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.25
    Marker Score: 90
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.24
    Marker Score: 115
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.24
    Marker Score: 104
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.24
    Marker Score: 183
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.24
    Marker Score: 556
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.23
    Marker Score: 73
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.22
    Marker Score: 102
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.21
    Marker Score: 211
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.21
    Marker Score: 188
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.21
    Marker Score: 104
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.2
    Marker Score: 74.5
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 0.2
    Marker Score: 626.5
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.18
    Marker Score: 227
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.17
    Marker Score: 86
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.17
    Marker Score: 444
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.17
    Marker Score: 96.5
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.17
    Marker Score: 1679.5
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.16
    Marker Score: 1403
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.12
    Marker Score: 115
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.11
    Marker Score: 109
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.11
    Marker Score: 322
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.11
    Marker Score: 709
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.11
    Marker Score: 376.5
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.09
    Marker Score: 90
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.09
    Marker Score: 112
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.09
    Marker Score: 108
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.08
    Marker Score: 77
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.08
    Marker Score: 75
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.08
    Marker Score: 111
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.07
    Marker Score: 92
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.07
    Marker Score: 117
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.06
    Marker Score: 148
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.06
    Marker Score: 72
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.06
    Marker Score: 493
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.05
    Marker Score: 163
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.05
    Marker Score: 89
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.04
    Marker Score: 116
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.03
    Marker Score: 96
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.03
    Marker Score: 60
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.02
    Marker Score: 252
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.02
    Marker Score: 117
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.01
    Marker Score: 117
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.01
    Marker Score: 116
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.01
    Marker Score: 68
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.01
    Marker Score: 117
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.01
    Marker Score: 117
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.01
    Marker Score: 111
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.01
    Marker Score: 111
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0
    Marker Score: 108
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0
    Marker Score: 103
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0
    Marker Score: 104
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0
    Marker Score: 103

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Other Information

**Key characteristics:** - GDF1 is a glycoprotein with a molecular weight of approximately 145 kDa. - It is a member of the GDF family of growth factors. - GDF1 is expressed in high levels in early-stage embryos and continues to be expressed in some cell types throughout development. - It is known to be a potent activator of the JAK/STAT signaling pathway, which is involved in cell growth, differentiation, and survival. - GDF1 also binds to the GFR-1 receptor, which is expressed in various cell types. **Pathways and functions:** - GDF1 is a key factor in hematopoiesis, the development of blood cells. - It promotes the proliferation of hematopoietic stem cells and the differentiation of committed progenitor cells into various blood cell types. - It also plays a role in the survival and maintenance of blood cells. - GDF1 is also involved in the development and maintenance of the immune system. - It promotes the development of lymphoid tissue and the survival of lymphoid cells. - It also inhibits the differentiation of myeloid progenitor cells into macrophages and dendritic cells. **Clinical significance:** - Mutations in the GDF1 gene have been linked to a number of human diseases, including leukemia, lymphoma, and autoimmune disorders. - GDF1 is a potential therapeutic target for cancer and other diseases that are characterized by abnormal blood cell growth. - Studies of GDF1 have shown that it can be used to treat leukemia and other blood-related disorders.

Genular Protein ID: 2299649856

Symbol: GDF1_HUMAN

Name: Embryonic growth/differentiation factor 1

UniProtKB Accession Codes:

P27539 O43344

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 2 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 3 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 1 RefSeq 1 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2034669

Title: Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure.

PubMed ID: 2034669

DOI: 10.1073/pnas.88.10.4250

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 20413652

Title: Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).

PubMed ID: 20413652

DOI: 10.1093/hmg/ddq164

PubMed ID: 17924340

Title: Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

PubMed ID: 17924340

DOI: 10.1086/522890

PubMed ID: 28991257

Title: Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

PubMed ID: 28991257

DOI: 10.1038/ng.3970

Sequence Information:

  • Length: 372
  • Mass: 39475
  • Checksum: 10A4893F063047B9
  • Sequence:
    • MPPPQQGPCG HHLLLLLALL LPSLPLTRAP VPPGPAAALL QALGLRDEPQ GAPRLRPVPP 
VMWRLFRRRD PQETRSGSRR TSPGVTLQPC HVEELGVAGN IVRHIPDRGA PTRASEPASA 
AGHCPEWTVV FDLSAVEPAE RPSRARLELR FAAAAAAAPE GGWELSVAQA GQGAGADPGP 
VLLRQLVPAL GPPVRAELLG AAWARNASWP RSLRLALALR PRAPAACARL AEASLLLVTL 
DPRLCHPLAR PRRDAEPVLG GGPGGACRAR RLYVSFREVG WHRWVIAPRG FLANYCQGQC 
ALPVALSGSG GPPALNHAVL RALMHAAAPG AADLPCCVPA RLSPISVLFF DNSDNVVLRQ 
YEDMVVDECG CR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.