Details for: FECH

Gene ID: 2235

Symbol: FECH

Ensembl ID: ENSG00000066926

Description: ferrochelatase

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: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.84
    Marker Score: 4926
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.74
    Marker Score: 1815
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.67
    Marker Score: 1134
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.51
    Marker Score: 747
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168895
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.36
    Marker Score: 1253
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.21
    Marker Score: 74286
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.19
    Marker Score: 11263
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.12
    Marker Score: 9621
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.1
    Marker Score: 1701
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.04
    Marker Score: 9762
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.03
    Marker Score: 10654
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71761
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47986
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30401
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 486
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.94
    Marker Score: 3686
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 441
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.92
    Marker Score: 980
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.92
    Marker Score: 573
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2720
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.89
    Marker Score: 13873
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.89
    Marker Score: 355
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5016
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5259
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.86
    Marker Score: 689
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.83
    Marker Score: 16535
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.81
    Marker Score: 3144
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.8
    Marker Score: 12001
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.78
    Marker Score: 29744
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.78
    Marker Score: 587
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1252
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.75
    Marker Score: 1429
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 569
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.74
    Marker Score: 410
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3057
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 377
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.73
    Marker Score: 1477
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.72
    Marker Score: 26657
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 647
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.7
    Marker Score: 5342
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.66
    Marker Score: 328
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 168
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.65
    Marker Score: 1380.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.65
    Marker Score: 209
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.65
    Marker Score: 1546
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.64
    Marker Score: 151
  • Cell Name: enucleated reticulocyte (CL0002422)
    Fold Change: 0.63
    Marker Score: 235
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.62
    Marker Score: 345
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.62
    Marker Score: 2578
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.61
    Marker Score: 258
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.6
    Marker Score: 301
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.6
    Marker Score: 2451
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.57
    Marker Score: 182
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.56
    Marker Score: 600
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 433
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.54
    Marker Score: 673.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.53
    Marker Score: 1253
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.53
    Marker Score: 11329
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.53
    Marker Score: 3181
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.53
    Marker Score: 337
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 0.52
    Marker Score: 1447
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.52
    Marker Score: 138
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.51
    Marker Score: 126
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.5
    Marker Score: 1647
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.49
    Marker Score: 500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.49
    Marker Score: 2016
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.49
    Marker Score: 239
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.47
    Marker Score: 485
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.47
    Marker Score: 315
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.46
    Marker Score: 279
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.46
    Marker Score: 762
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.46
    Marker Score: 160
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.45
    Marker Score: 475
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.45
    Marker Score: 1219
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.44
    Marker Score: 1106
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.44
    Marker Score: 153
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.43
    Marker Score: 484
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.43
    Marker Score: 226
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.43
    Marker Score: 179
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.43
    Marker Score: 1464
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.42
    Marker Score: 279
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.41
    Marker Score: 4168
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.41
    Marker Score: 102
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.41
    Marker Score: 140
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.4
    Marker Score: 1736
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.4
    Marker Score: 164
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.4
    Marker Score: 982.5
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.39
    Marker Score: 563
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.39
    Marker Score: 3363
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.39
    Marker Score: 193
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.39
    Marker Score: 121
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.38
    Marker Score: 333
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.38
    Marker Score: 564
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.38
    Marker Score: 610
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.38
    Marker Score: 410
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.38
    Marker Score: 83
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.37
    Marker Score: 247

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Other Information

**Key characteristics:** * The gene is located on chromosome 15q21.1. * It is a large gene with a molecular weight of approximately 2.1 million Da. * The protein is a transmembrane protein with a single transmembrane domain. * It is a member of the ferrochelatase family of enzymes. **Pathways and functions:** * The FECH gene is involved in the synthesis of heme from iron and sulfur sources. * Heme is an essential cofactor for many enzymes involved in various cellular processes, including oxygen transport, electron transport chain reactions, and protein synthesis. * The protein also plays a role in the degradation of hemoglobin, the breakdown of heme to release iron. * In addition to its role in heme biosynthesis, FECH is involved in the metabolism of porphyrins, a class of organic compounds that are involved in various physiological processes. **Clinical significance:** * Mutations in the FECH gene have been linked to several human diseases, including siderocytosis, a condition characterized by low levels of iron in the blood. * Inherited defects in FECH can lead to the accumulation of iron in the brain, resulting in brain damage and cognitive impairment. * The development of therapies aimed at correcting mutations in FECH is an active area of research. **Additional points:** * The FECH gene is also involved in the regulation of iron metabolism. * It is a key regulator of iron transport in the body. * Mutations in the FECH gene can also be associated with other conditions, such as polycythemia, a condition characterized by an overproduction of red blood cells.

Genular Protein ID: 1997659158

Symbol: HEMH_HUMAN

Name: Ferrochelatase, mitochondrial

UniProtKB Accession Codes:

P22830 A8KA72 Q8IXN1 Q8NAN0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEBI 9 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 9 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 28 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 28 PDBsum 25 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2260980

Title: Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase.

PubMed ID: 2260980

DOI: 10.1016/s0006-291x(05)80099-3

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 7983009

Title: A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene.

PubMed ID: 7983009

DOI: 10.1016/s0021-9258(18)47351-6

PubMed ID: 8276824

Title: Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases.

PubMed ID: 8276824

DOI: 10.1016/s0021-9258(17)42362-3

PubMed ID: 8973195

Title: Site-directed mutagenesis and spectroscopic characterization of human ferrochelatase: identification of residues coordinating the [2Fe-2S] cluster.

PubMed ID: 8973195

DOI: 10.1021/bi9620114

PubMed ID: 9712849

Title: Evidence that the fourth ligand to the 2Fe-2S cluster in animal ferrochelatase is a cysteine. Characterization of the enzyme from Drosophila melanogaster.

PubMed ID: 9712849

DOI: 10.1074/jbc.273.35.22311

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27599036

Title: A Novel Role for Progesterone Receptor Membrane Component 1 (PGRMC1): A Partner and Regulator of Ferrochelatase.

PubMed ID: 27599036

DOI: 10.1021/acs.biochem.6b00756

PubMed ID: 30765471

Title: Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.

PubMed ID: 30765471

DOI: 10.3324/haematol.2018.214320

PubMed ID: 11175906

Title: The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis.

PubMed ID: 11175906

DOI: 10.1038/84152

PubMed ID: 17261801

Title: Substrate interactions with human ferrochelatase.

PubMed ID: 17261801

DOI: 10.1073/pnas.0606144104

PubMed ID: 9211198

Title: Erythropoietic protoporphyria.

PubMed ID: 9211198

DOI: 10.1023/a:1005317124985

PubMed ID: 1755842

Title: Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.

PubMed ID: 1755842

DOI: 10.1016/0006-291x(91)91231-z

PubMed ID: 1376018

Title: A molecular defect in human protoporphyria.

PubMed ID: 1376018

PubMed ID: 7910885

Title: Recessive inheritance of erythropoietic protoporphyria with liver failure.

PubMed ID: 7910885

DOI: 10.1016/s0140-6736(94)92525-9

PubMed ID: 8757534

Title: A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria.

PubMed ID: 8757534

DOI: 10.1046/j.1365-2141.1996.d01-1771.x

PubMed ID: 9585598

Title: Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

PubMed ID: 9585598

DOI: 10.1086/301870

PubMed ID: 9740232

Title: Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

PubMed ID: 9740232

DOI: 10.1046/j.1523-1747.1998.00327.x

PubMed ID: 10942404

Title: Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

PubMed ID: 10942404

PubMed ID: 11375302

Title: New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.

PubMed ID: 11375302

PubMed ID: 12063482

Title: Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.

PubMed ID: 12063482

DOI: 10.1067/mjd.2002.120460

PubMed ID: 12601550

Title: Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.

PubMed ID: 12601550

DOI: 10.1007/s100380300009

PubMed ID: 15286165

Title: Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease.

PubMed ID: 15286165

DOI: 10.1136/jmg.2003.016121

PubMed ID: 17196862

Title: Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.

PubMed ID: 17196862

DOI: 10.1016/j.ymgme.2006.10.012

Sequence Information:

  • Length: 423
  • Mass: 47862
  • Checksum: 3FD50965E8DEABCE
  • Sequence:
    • MRSLGANMAA ALRAAGVLLR DPLASSSWRV CQPWRWKSGA AAAAVTTETA QHAQGAKPQV 
QPQKRKPKTG ILMLNMGGPE TLGDVHDFLL RLFLDRDLMT LPIQNKLAPF IAKRRTPKIQ 
EQYRRIGGGS PIKIWTSKQG EGMVKLLDEL SPNTAPHKYY IGFRYVHPLT EEAIEEMERD 
GLERAIAFTQ YPQYSCSTTG SSLNAIYRYY NQVGRKPTMK WSTIDRWPTH HLLIQCFADH 
ILKELDHFPL EKRSEVVILF SAHSLPMSVV NRGDPYPQEV SATVQKVMER LEYCNPYRLV 
WQSKVGPMPW LGPQTDESIK GLCERGRKNI LLVPIAFTSD HIETLYELDI EYSQVLAKEC 
GVENIRRAES LNGNPLFSKA LADLVHSHIQ SNELCSKQLT LSCPLCVNPV CRETKSFFTS 
QQL

Genular Protein ID: 1125924969

Symbol: Q7KZA3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q7KZA3

Database IDs:

ARBA 9 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 4 DNASU 1 DrugBank 1 EC 1 EMBL 2 EvolutionaryTrace 1 GO 4 Gene3D 1 Genevisible 1 GenomeRNAi 1 HAMAP 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 2 Rhea 1 RuleBase 1 SUPFAM 1 UniPathway 1

Sequence Information:

  • Length: 416
  • Mass: 47132
  • Checksum: 4CC6E64E061042D7
  • Sequence:
    • MAAALRAAGV LLRDPLASSS WRVCQPWRWK SGAAAAAVTT ETAQHAQGAK PQVQPQKRKP 
KTGILMLNMG GPETLGDVHD FLLRLFLDRD LMTLPIQNKL APFIAKRRTP KIQEQYRRIG 
GGSPIKIWTS KQGEGMVKLL DELSPNTAPH KYYIGFRYVH PLTEEAIEEM ERDGLERAIA 
FTQYPQYSCS TTGSSLNAIY RYYNQVGRKP TMKWSTIDRW PTHHLLIQCF ADHILKELDH 
FPLEKRSEVV ILFSAHSLPM SVVNRGDPYP QEVSATVQKV MERLEYCNPY RLVWQSKVGP 
MPWLGPQTDE SIKGLCERGR KNILLVPIAF TSDHIETLYE LDIEYSQVLA KECGVENIRR 
AESLNGNPLF SKALADLVHS HIQSNELCSK QLTLSCPLCV NPVCRETKSF FTSQQL

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.