Details for: ALAS1

Gene ID: 211

Symbol: ALAS1

Ensembl ID: ENSG00000023330

Description: 5'-aminolevulinate synthase 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: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.16
    Marker Score: 56090
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.87
    Marker Score: 2759
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.43
    Marker Score: 1545
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.42
    Marker Score: 5568
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.37
    Marker Score: 8781
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.32
    Marker Score: 2504
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.25
    Marker Score: 32052
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.23
    Marker Score: 986
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.21
    Marker Score: 3799
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.08
    Marker Score: 540
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.07
    Marker Score: 4618
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.04
    Marker Score: 1493
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.01
    Marker Score: 5444
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1
    Marker Score: 671
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71712
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47935
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.99
    Marker Score: 1199
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30391
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.98
    Marker Score: 539
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.94
    Marker Score: 14784
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2393
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 476
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.92
    Marker Score: 5601
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.92
    Marker Score: 4407
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 432
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.91
    Marker Score: 5815
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.91
    Marker Score: 5816
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.91
    Marker Score: 407
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.91
    Marker Score: 2063
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2696
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.88
    Marker Score: 2231
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.85
    Marker Score: 1353
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 305
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4775
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.82
    Marker Score: 161
  • Cell Name: basophil (CL0000767)
    Fold Change: 0.81
    Marker Score: 386
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.8
    Marker Score: 324
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.8
    Marker Score: 1993
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.8
    Marker Score: 544
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.79
    Marker Score: 5890
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.79
    Marker Score: 540
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 595.5
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.78
    Marker Score: 5072
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.78
    Marker Score: 713
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.78
    Marker Score: 773
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.77
    Marker Score: 971.5
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.77
    Marker Score: 668
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.77
    Marker Score: 1750
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.77
    Marker Score: 309
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.75
    Marker Score: 1003
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.75
    Marker Score: 2576
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.75
    Marker Score: 1237
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.75
    Marker Score: 1515
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.74
    Marker Score: 6335
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.73
    Marker Score: 458
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.73
    Marker Score: 767
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.72
    Marker Score: 268
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.71
    Marker Score: 370
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.71
    Marker Score: 6270
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.71
    Marker Score: 166
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.7
    Marker Score: 1146.5
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7
    Marker Score: 447
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.69
    Marker Score: 6019.5
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.69
    Marker Score: 421
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.68
    Marker Score: 571
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.68
    Marker Score: 374
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 615
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.67
    Marker Score: 952
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.67
    Marker Score: 628
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.66
    Marker Score: 1024
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.66
    Marker Score: 1627
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.66
    Marker Score: 308
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.66
    Marker Score: 1058
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.66
    Marker Score: 619
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.66
    Marker Score: 163
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.65
    Marker Score: 188
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.65
    Marker Score: 787
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.64
    Marker Score: 372
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.64
    Marker Score: 158
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.63
    Marker Score: 21936
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.63
    Marker Score: 881
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.62
    Marker Score: 296
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.62
    Marker Score: 407
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.61
    Marker Score: 870
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.61
    Marker Score: 1112
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.61
    Marker Score: 20706
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.61
    Marker Score: 229
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.6
    Marker Score: 703
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.6
    Marker Score: 3163
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6
    Marker Score: 628
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.59
    Marker Score: 1128
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.59
    Marker Score: 355
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.59
    Marker Score: 578
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.59
    Marker Score: 271
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.59
    Marker Score: 290
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.58
    Marker Score: 681

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Other Information

**Key characteristics:** - ALAS1 is a protein that is expressed in a variety of cell types, including the cortical cell of the adrenal gland, bladder urothelial cell, Leydig cell, placental villous trophoblast, centrilobular region hepatocyte, cardiac endothelial cell, alveolar macrophage, pulmonary interstitial fibroblast, colon epithelial cell, and osteoclast. - The protein is a non-specific 5-aminolevulinate synthase, which means that it can synthesize heme from a variety of precursors. - The protein is involved in the synthesis of both heme a and heme b, which are two different forms of heme. **Pathways and functions:** - ALAS1 is involved in the 5-aminolevulinate synthase activity pathway, which is responsible for the synthesis of heme from precursors such as 5-aminolevulinate. - The protein is also involved in the Heme a biosynthetic process, the Heme b biosynthetic process, and the Heme biosynthesis process, which are all involved in the synthesis of heme from precursors such as protoporphyrinogen. - The protein is also involved in the regulation of lipid metabolism by pparalpha, which is a transcription factor that is involved in the regulation of lipid synthesis and metabolism. **Clinical significance:** - Mutations in the ALAS1 gene have been linked to a number of human diseases, including erythropoiesis disorders, which are characterized by a lack of red blood cells. - The ALAS1 gene is also involved in the pathogenesis of certain cancers, such as liver cancer and leukemia. - Therefore, ALAS1 is a promising target for the treatment of human diseases that are caused by mutations in the ALAS1 gene.

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 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MaxQB 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 3 RefSeq 4 Rhea 2 SAM 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UniPathway 1 UniProtKB 3 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 17 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 7 DNASU 1 EC 1 EMBL 2 GO 5 Gene3D 2 GenomeRNAi 1 InterPro 7 MaxQB 1 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. For the full schema, download it here.