Details for: ALAS1

Gene ID: 211

Symbol: ALAS1

Ensembl ID: ENSG00000023330

Description: 5'-aminolevulinate synthase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 144.0096
    Cell Significance Index: -22.4000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 84.5281
    Cell Significance Index: -21.4400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 62.1681
    Cell Significance Index: -25.6100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 51.1096
    Cell Significance Index: -24.1300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 49.9068
    Cell Significance Index: -20.2800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 21.6577
    Cell Significance Index: -20.6800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.6381
    Cell Significance Index: -22.9800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.1639
    Cell Significance Index: -21.8700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 7.8031
    Cell Significance Index: 209.0900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.8058
    Cell Significance Index: -22.9100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.2814
    Cell Significance Index: -13.1500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 4.2245
    Cell Significance Index: 112.8000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 3.9119
    Cell Significance Index: 203.2100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.3322
    Cell Significance Index: 39.2900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.9317
    Cell Significance Index: 191.0900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.9104
    Cell Significance Index: 310.7000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.4774
    Cell Significance Index: 13.6100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.2421
    Cell Significance Index: 74.5700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2336
    Cell Significance Index: 134.1800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.8230
    Cell Significance Index: 17.8300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7581
    Cell Significance Index: 34.3600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7507
    Cell Significance Index: 135.3300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6446
    Cell Significance Index: 127.9300
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.6274
    Cell Significance Index: 3.1300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.6118
    Cell Significance Index: 31.8700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5758
    Cell Significance Index: 16.5900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.5315
    Cell Significance Index: 15.6100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5240
    Cell Significance Index: 64.4300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4816
    Cell Significance Index: 33.3100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4423
    Cell Significance Index: 84.1800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4398
    Cell Significance Index: 23.0900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3656
    Cell Significance Index: 9.9500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3349
    Cell Significance Index: 182.9200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3138
    Cell Significance Index: 14.6300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2733
    Cell Significance Index: 12.8500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2417
    Cell Significance Index: 30.9800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2358
    Cell Significance Index: 47.3100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.2341
    Cell Significance Index: 3.4600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2174
    Cell Significance Index: 196.2700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1683
    Cell Significance Index: 74.4300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1508
    Cell Significance Index: 11.2400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1492
    Cell Significance Index: 17.6000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1204
    Cell Significance Index: 4.2300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1160
    Cell Significance Index: 2.4700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0943
    Cell Significance Index: 10.8000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0906
    Cell Significance Index: 5.7100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0789
    Cell Significance Index: 28.3000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0693
    Cell Significance Index: 9.5200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0565
    Cell Significance Index: 7.3000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0565
    Cell Significance Index: 6.4500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0464
    Cell Significance Index: 7.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0271
    Cell Significance Index: 18.7300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0042
    Cell Significance Index: 0.3000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0008
    Cell Significance Index: 0.6100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0035
    Cell Significance Index: -2.5700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0043
    Cell Significance Index: -3.1900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0067
    Cell Significance Index: -12.6600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0125
    Cell Significance Index: -7.7900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0140
    Cell Significance Index: -25.8100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0165
    Cell Significance Index: -25.3800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0213
    Cell Significance Index: -28.9200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0248
    Cell Significance Index: -15.7800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0258
    Cell Significance Index: -1.6700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0262
    Cell Significance Index: -14.7900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0270
    Cell Significance Index: -2.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0374
    Cell Significance Index: -16.9600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0426
    Cell Significance Index: -1.2200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0457
    Cell Significance Index: -4.6700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0513
    Cell Significance Index: -0.3100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0545
    Cell Significance Index: -1.1400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0548
    Cell Significance Index: -15.7600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0559
    Cell Significance Index: -11.7700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0776
    Cell Significance Index: -9.0400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0893
    Cell Significance Index: -1.5000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1017
    Cell Significance Index: -2.6800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1065
    Cell Significance Index: -2.2100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1122
    Cell Significance Index: -3.9000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1138
    Cell Significance Index: -3.6500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1162
    Cell Significance Index: -16.8900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1199
    Cell Significance Index: -3.3500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1628
    Cell Significance Index: -2.7900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1994
    Cell Significance Index: -2.7200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2145
    Cell Significance Index: -16.9900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2177
    Cell Significance Index: -13.3800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2186
    Cell Significance Index: -22.7600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2481
    Cell Significance Index: -13.9200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2533
    Cell Significance Index: -6.4700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2562
    Cell Significance Index: -17.2300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2857
    Cell Significance Index: -5.2800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3058
    Cell Significance Index: -7.8600
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.3169
    Cell Significance Index: -3.0100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3384
    Cell Significance Index: -8.4600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3613
    Cell Significance Index: -18.2600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3776
    Cell Significance Index: -23.1500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3873
    Cell Significance Index: -17.1300
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.4226
    Cell Significance Index: -4.4900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4329
    Cell Significance Index: -11.5800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.4441
    Cell Significance Index: -7.4700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.4470
    Cell Significance Index: -4.8600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4569
    Cell Significance Index: -10.5600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Mitochondrial localization**: ALAS1 is primarily localized to the mitochondrial matrix, where it plays a crucial role in the heme biosynthetic pathway. 2. **High specificity**: ALAS1 exhibits high specificity for glycine and succinyl-CoA, ensuring accurate conversion to ALA. 3. **Regulatory mechanisms**: The expression of ALAS1 is tightly regulated by various transcriptional and post-transcriptional mechanisms, including the PPARα transcription factor. 4. **Cellular distribution**: ALAS1 is expressed in a wide range of cell types, including cortical cells of the adrenal gland, bladder urothelial cells, and cardiac endothelial cells. **Pathways and Functions** ALAS1 is intricately involved in several key pathways, including: 1. **Heme biosynthesis**: ALAS1 catalyzes the conversion of glycine and succinyl-CoA to ALA, a critical step in the heme biosynthetic pathway. 2. **Mitochondrial biogenesis**: ALAS1 contributes to the regulation of mitochondrial biogenesis and function, particularly in response to bile acid stimulation. 3. **Regulation of lipid metabolism**: ALAS1 is activated by PPARα, a transcription factor that regulates lipid metabolism and energy homeostasis. 4. **Protein binding**: ALAS1 interacts with various proteins, including PPARα and HEM1, to regulate its activity and expression. **Clinical Significance** Dysregulation of ALAS1 has been implicated in various diseases, including: 1. **Heme disorders**: Mutations in the ALAS1 gene have been associated with heme disorders, such as congenital erythropoietic porphyria (CEP) and acute intermittent porphyria (AIP). 2. **Mitochondrial disorders**: ALAS1 dysfunction has been linked to mitochondrial disorders, including Kearns-Sayre syndrome and MELAS syndrome. 3. **Cancer**: Elevated ALAS1 expression has been observed in certain types of cancer, including colorectal cancer and prostate cancer. In conclusion, ALAS1 is a crucial enzyme in the heme biosynthetic pathway, playing a vital role in the production of heme and regulation of mitochondrial biogenesis and lipid metabolism. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the molecular mechanisms underlying ALAS1 function and its clinical significance.

Genular Protein ID: 2229501242

Symbol: HEM1_HUMAN

Name: 5-aminolevulinate synthase, non-specific, mitochondrial

UniProtKB Accession Codes:

P13196

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 12 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 1 EMBL 4 Ensembl 4 ExpressionAtlas 1 GO 16 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 4 RefSeq 4 Rhea 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2263504

Title: Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes.

PubMed ID: 2263504

DOI: 10.1093/nar/18.23.7187

PubMed ID: 3671094

Title: Sequence of human 5-aminolevulinate synthase cDNA.

PubMed ID: 3671094

DOI: 10.1093/nar/15.20.8563

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16234850

Title: Erythroid-specific 5-aminolevulinate synthase protein is stabilized by low oxygen and proteasomal inhibition.

PubMed ID: 16234850

DOI: 10.1139/o05-045

PubMed ID: 17975826

Title: Regulation of human liver delta-aminolevulinic acid synthase by bile acids.

PubMed ID: 17975826

DOI: 10.1002/hep.21879

Sequence Information:

  • Length: 640
  • Mass: 70581
  • Checksum: 5E952DCCFFD6873F
  • Sequence:
    • MESVVRRCPF LSRVPQAFLQ KAGKSLLFYA QNCPKMMEVG AKPAPRALST AAVHYQQIKE 
TPPASEKDKT AKAKVQQTPD GSQQSPDGTQ LPSGHPLPAT SQGTASKCPF LAAQMNQRGS 
SVFCKASLEL QEDVQEMNAV RKEVAETSAG PSVVSVKTDG GDPSGLLKNF QDIMQKQRPE 
RVSHLLQDNL PKSVSTFQYD RFFEKKIDEK KNDHTYRVFK TVNRRAHIFP MADDYSDSLI 
TKKQVSVWCS NDYLGMSRHP RVCGAVMDTL KQHGAGAGGT RNISGTSKFH VDLERELADL 
HGKDAALLFS SCFVANDSTL FTLAKMMPGC EIYSDSGNHA SMIQGIRNSR VPKYIFRHND 
VSHLRELLQR SDPSVPKIVA FETVHSMDGA VCPLEELCDV AHEFGAITFV DEVHAVGLYG 
ARGGGIGDRD GVMPKMDIIS GTLGKAFGCV GGYIASTSSL IDTVRSYAAG FIFTTSLPPM 
LLAGALESVR ILKSAEGRVL RRQHQRNVKL MRQMLMDAGL PVVHCPSHII PVRVADAAKN 
TEVCDELMSR HNIYVQAINY PTVPRGEELL RIAPTPHHTP QMMNYFLENL LVTWKQVGLE 
LKPHSSAECN FCRRPLHFEV MSEREKSYFS GLSKLVSAQA

Genular Protein ID: 845292504

Symbol: B4DVA0_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DVA0

Database IDs:

ARBA 16 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 7 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 7 Gene3D 2 InterPro 8 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 4 RefSeq 2 Rhea 2 SAM 1 SUPFAM 1 UniPathway 1

Sequence Information:

  • Length: 657
  • Mass: 72624
  • Checksum: 53A1CDE8C9B1144A
  • Sequence:
    • MDEWLLLHLD EPAYFLNMES VVRRCPFLSR VPQAFLQKAG KSLLFYAQNC PKMMEVGAKP 
APRALSTAAV HYQQIKETPP ASEKDKTAKA KVQQTPDGSQ QSPDGTQLPS GHPLPATSQG 
TASKCPFLAA QMNQRGSSVF CKASLELQED VQEMNAVRKE VAETSAGPSV VSVKTDGGDP 
SGLLKNFQDI MQKQRPERVS HLLQDNLPKS VSTFQYGRFF EKKIDEKKND HTYRVFKTVN 
RRAHIFPMAD DYSDSLITKK QVSVWCSNDY LGMSRHPRVC GAVMDTLKQH GAGAGGTRNI 
SGTSKFHVDL ERELADLHGK DAALLFSSCF VANDSTLFTL AKMMPGCEIY SDSGNHASMI 
QGIRNSRVPK YIFRHNDVSH LRELLQRSDP SVPKIVAFET VHSMDGAVCP LEELCDVAHE 
FGAITFVDEV HAVGLYGARG GGIGDRDGVM PKMDIISGTL GKAFGCVGGY IASTSSLIDT 
VRSYAAGFIF TTSLPPMLLA GALESVRILK SAEGRVLRRQ HQRNVKLMRQ MLMDAGLPVV 
HCPSHIIPVR VADAAKNTEV CDELMSRHNI YVQAINYPTV PRGEELLRIA PTPHHTPQMM 
NYFLENLLVT WKQVGLELKP HSSAECNFCR RPLHFEVMSE REKSYFSGLS KLVSAQA

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.