KEGG   Homo sapiens (human): 2271
Entry
2271              CDS       T01001                                 

Gene name
FH, FMRD, HLRCC, HsFH, LRCC, MCL, MCUL1
Definition
(RefSeq) fumarate hydratase
  KO
K01679  fumarate hydratase, class II [EC:4.2.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00020  Citrate cycle (TCA cycle)
hsa00620  Pyruvate metabolism
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
hsa04934  Cushing syndrome
hsa05200  Pathways in cancer
hsa05211  Renal cell carcinoma
Module
hsa_M00009  Citrate cycle (TCA cycle, Krebs cycle)
hsa_M00011  Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate
Disease
H00021  Renal cell carcinoma
H00804  Multiple cutaneous and uterine leiomyomata
H01022  Diseases of the tricarboxylic acid cycle
H01431  Cushing syndrome
H01510  Malignant paraganglioma
H01640  Uterine leiomyoma
H02004  Fumarase deficiency
H02049  Bilateral macronodular adrenal hyperplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00020 Citrate cycle (TCA cycle)
    2271 (FH)
   00620 Pyruvate metabolism
    2271 (FH)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    2271 (FH)
  09162 Cancer: specific types
   05211 Renal cell carcinoma
    2271 (FH)
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    2271 (FH)
Enzymes [BR:hsa01000]
 4. Lyases
  4.2  Carbon-oxygen lyases
   4.2.1  Hydro-lyases
    4.2.1.2  fumarate hydratase
     2271 (FH)
SSDB
Motif
Pfam: Lyase_1 FumaraseC_C
Other DBs
NCBI-GeneID: 2271
NCBI-ProteinID: NP_000134
OMIM: 136850
HGNC: 3700
Ensembl: ENSG00000091483
Vega: OTTHUMG00000039597
Pharos: P07954(Tbio)
UniProt: P07954 A0A0S2Z4C3
Structure
PDB: 
5UPP 3E04 5D6B 6EBT

Position
1q43
AA seq 510 aa
MYRALRLLARSRPLVRAPAAALASAPGLGGAAVPSFWPPNAARMASQNSFRIEYDTFGEL
KVPNDKYYGAQTVRSTMNFKIGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAI
MKAADEVAEGKLNDHFPLVVWQTGSGTQTNMNVNEVISNRAIEMLGGELGSKIPVHPNDH
VNKSQSSNDTFPTAMHIAAAIEVHEVLLPGLQKLHDALDAKSKEFAQIIKIGRTHTQDAV
PLTLGQEFSGYVQQVKYAMTRIKAAMPRIYELAAGGTAVGTGLNTRIGFAEKVAAKVAAL
TGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIANDIRFLGSGPRSGLGELILPE
NEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGSNGHFELNVFKPMMIKNVLHSA
RLLGDASVSFTENCVVGIQANTERINKLMNESLMLVTALNPHIGYDKAAKIAKTAHKNGS
TLKETAIELGYLTAEQFDEWVKPKDMLGPK
NT seq 1533 nt   +upstreamnt  +downstreamnt
atgtaccgagcacttcggctcctcgcgcgctcgcgtcccctcgtgcgggctccagccgca
gccttagcttcggctcccggcttgggtggcgcggccgtgccctcgttttggcctccgaac
gcggctcgaatggcaagccaaaattccttccggatagaatatgatacctttggtgaacta
aaggtgccaaatgataagtattatggcgcccagaccgtgagatctacgatgaactttaag
attggaggtgtgacagaacgcatgccaaccccagttattaaagcttttggcatcttgaag
cgagcggccgctgaagtaaaccaggattatggtcttgatccaaagattgctaatgcaata
atgaaggcagcagatgaggtagctgaaggtaaattaaatgatcattttcctctcgtggta
tggcagactggatcaggaactcagacaaatatgaatgtaaatgaagtcattagcaataga
gcaattgaaatgttaggaggtgaacttggcagcaagatacctgtgcatcccaacgatcat
gttaataaaagccagagctcaaatgatacttttcccacagcaatgcacattgctgctgca
atagaagttcatgaagtactgttaccaggactacagaagttacatgatgctcttgatgca
aaatccaaagagtttgcacagatcatcaagattggacgtactcatactcaggatgctgtt
ccacttactcttgggcaggaatttagtggttatgttcaacaagtaaaatatgcaatgaca
agaataaaagctgccatgccaagaatctatgagctcgcagctggaggcactgctgttggt
acaggtttaaatactagaattggctttgcagaaaaggttgctgcaaaagtggctgcactt
acaggcttgccttttgtcactgctccgaataaatttgaagctctggctgctcatgacgct
ctggttgagctcagtggagccatgaacactactgcctgcagtctgatgaagatagcaaat
gatattcgatttttgggttctggtcctcggtcaggtctgggagaattgatcttgcctgaa
aatgaaccaggaagcagtatcatgccaggcaaggtgaaccctactcagtgtgaagcaatg
accatggttgcagcccaagtcatggggaaccatgttgctgtcactgtcggaggcagcaat
ggacattttgagttgaatgttttcaagccaatgatgattaaaaatgtgttacactcagcc
aggctgctgggggatgcttcagtttcctttacagaaaactgcgtggtgggaatccaggcc
aatacagaaaggatcaacaagctgatgaatgagtctctaatgttggtgacagctctcaat
cctcatatagggtatgacaaggcagcaaagattgctaagacagcacacaaaaatggatca
accttaaaggaaactgctatcgaacttggctatctcacagcagagcagtttgacgaatgg
gtaaaacctaaggacatgctgggtccaaagtga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (11)   
   KEGG PATHWAY (7)   
   KEGG MODULE (4)   
Disease (11)   
   KEGG DISEASE (8)   
   OMIM (3)   
Chemical substance (3)   
   KEGG COMPOUND (3)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (32)   
   KEGG ORTHOLOGY (1)   
   RefGene (19)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (36)   
   RefSeq(nuc) (2)   
   GenBank (17)   
   EMBL (17)   
Protein domain (2)   
   Pfam (2)   
All databases (105)   

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