Format

Send to:

Choose Destination

FTCD formimidoyltransferase cyclodeaminase [ Homo sapiens (human) ]

Gene ID: 10841, updated on 12-Aug-2018

Summary

Official Symbol
FTCDprovided by HGNC
Official Full Name
formimidoyltransferase cyclodeaminaseprovided by HGNC
Primary source
HGNC:HGNC:3974
See related
Ensembl:ENSG00000160282 MIM:606806; Vega:OTTHUMG00000090488
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LCHC1
Summary
The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]
Expression
Biased expression in liver (RPKM 54.7), kidney (RPKM 35.5) and 1 other tissue See more
Orthologs

Genomic context

See FTCD in Genome Data Viewer
Location:
21q22.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (46135981..46156482, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47556065..47575499, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene proteasome subunit alpha 6 pseudogene 3 Neighboring gene collagen type VI alpha 2 chain Neighboring gene FTCD antisense RNA 1 Neighboring gene spermatogenesis and centriole associated 1 like Neighboring gene small nucleolar RNA, C/D box 159 Neighboring gene lanosterol synthase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
folic acid binding IEA
Inferred from Electronic Annotation
more info
 
formimidoyltetrahydrofolate cyclodeaminase activity EXP
Inferred from Experiment
more info
PubMed 
formimidoyltetrahydrofolate cyclodeaminase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
formimidoyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
glutamate formimidoyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
folic acid-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
histidine catabolic process TAS
Traceable Author Statement
more info
 
histidine catabolic process to glutamate and formamide IEA
Inferred from Electronic Annotation
more info
 
histidine catabolic process to glutamate and formate IEA
Inferred from Electronic Annotation
more info
 
tetrahydrofolate interconversion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
centriole IEA
Inferred from Electronic Annotation
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum-Golgi intermediate compartment ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
smooth endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
formimidoyltransferase-cyclodeaminase
Names
formiminotransferase-cyclodeaminase
NP_001307341.1
NP_006648.1
NP_996848.1
XP_006724024.2
XP_006724025.2
XP_011527736.1
XP_011527737.1
XP_011527738.1
XP_011527739.1
XP_011527741.1
XP_011527742.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016191.1 RefSeqGene

    Range
    5001..24306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320412.1NP_001307341.1  formimidoyltransferase-cyclodeaminase isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) has multiple differences in the 3' coding region and 3' UTR, one of which results in a translational frameshift, compared to variant A. The resulting protein (isoform C) has a distinct C-terminus and is longer than isoform A.
    Source sequence(s)
    AF289022, BC052248, BC136395
    Consensus CDS
    CCDS82684.1
    UniProtKB/Swiss-Prot
    O95954
    Related
    ENSP00000380856.1, OTTHUMP00000115566, ENST00000397748.5, OTTHUMT00000206963
    Conserved Domains (4) summary
    TIGR02024
    Location:1328
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:181324
    FTCD; Formiminotransferase domain
    pfam04961
    Location:370513
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:7179
    FTCD_N; Formiminotransferase domain, N-terminal subdomain
  2. NM_006657.2NP_006648.1  formimidoyltransferase-cyclodeaminase isoform A

    See identical proteins and their annotated locations for NP_006648.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) differs in the 3' UTR compared to variant A. Variants A and B encode the same protein (isoform A).
    Source sequence(s)
    AF289021, BC052248, BI966164
    Consensus CDS
    CCDS13731.1
    UniProtKB/Swiss-Prot
    O95954
    Related
    ENSP00000291670.5, OTTHUMP00000115565, ENST00000291670.9, OTTHUMT00000206962
    Conserved Domains (4) summary
    TIGR02024
    Location:1328
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:181324
    FTCD; Formiminotransferase domain
    pfam04961
    Location:370519
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:7179
    FTCD_N; Formiminotransferase domain, N-terminal subdomain
  3. NM_206965.1NP_996848.1  formimidoyltransferase-cyclodeaminase isoform A

    See identical proteins and their annotated locations for NP_996848.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) represents the predominant transcript. Variants A and B encode the same protein (isoform A).
    Source sequence(s)
    AA719282, AF169017, AF289021, BM021970
    Consensus CDS
    CCDS13731.1
    UniProtKB/Swiss-Prot
    O95954
    Related
    ENSP00000380854.3, OTTHUMP00000115563, ENST00000397746.7, OTTHUMT00000206959
    Conserved Domains (4) summary
    TIGR02024
    Location:1328
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:181324
    FTCD; Formiminotransferase domain
    pfam04961
    Location:370519
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:7179
    FTCD_N; Formiminotransferase domain, N-terminal subdomain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    46135981..46156482 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529439.2XP_011527741.1  formimidoyltransferase-cyclodeaminase isoform X6

    Conserved Domains (3) summary
    pfam02971
    Location:50193
    FTCD; Formiminotransferase domain
    pfam04961
    Location:241425
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:448
    FTCD_N; Formiminotransferase domain, N-terminal subdomain
  2. XM_011529434.3XP_011527736.1  formimidoyltransferase-cyclodeaminase isoform X1

    Conserved Domains (4) summary
    TIGR02024
    Location:41368
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:221364
    FTCD; Formiminotransferase domain
    pfam04961
    Location:412596
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:47219
    FTCD_N; Formiminotransferase domain, N-terminal subdomain
  3. XM_011529435.3XP_011527737.1  formimidoyltransferase-cyclodeaminase isoform X3

    Conserved Domains (4) summary
    TIGR02024
    Location:41368
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:221364
    FTCD; Formiminotransferase domain
    pfam04961
    Location:410553
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:47219
    FTCD_N; Formiminotransferase domain, N-terminal subdomain
  4. XM_011529437.3XP_011527739.1  formimidoyltransferase-cyclodeaminase isoform X5

    See identical proteins and their annotated locations for XP_011527739.1

    Conserved Domains (4) summary
    TIGR02024
    Location:41368
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:221364
    FTCD; Formiminotransferase domain
    pfam04961
    Location:412602
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:47219
    FTCD_N; Formiminotransferase domain, N-terminal subdomain
  5. XM_011529436.3XP_011527738.1  formimidoyltransferase-cyclodeaminase isoform X4

    Conserved Domains (4) summary
    TIGR02024
    Location:41368
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:221364
    FTCD; Formiminotransferase domain
    pfam04961
    Location:412596
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:47219
    FTCD_N; Formiminotransferase domain, N-terminal subdomain
  6. XM_006723961.4XP_006724024.2  formimidoyltransferase-cyclodeaminase isoform X5

    See identical proteins and their annotated locations for XP_006724024.2

    Conserved Domains (4) summary
    TIGR02024
    Location:41368
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:221364
    FTCD; Formiminotransferase domain
    pfam04961
    Location:412602
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:47219
    FTCD_N; Formiminotransferase domain, N-terminal subdomain
  7. XM_006723962.4XP_006724025.2  formimidoyltransferase-cyclodeaminase isoform X2

    Conserved Domains (4) summary
    TIGR02024
    Location:41368
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:221364
    FTCD; Formiminotransferase domain
    pfam04961
    Location:412596
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:47219
    FTCD_N; Formiminotransferase domain, N-terminal subdomain
  8. XM_011529440.3XP_011527742.1  formimidoyltransferase-cyclodeaminase isoform X7

    Conserved Domains (4) summary
    TIGR02024
    Location:41368
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:221364
    FTCD; Formiminotransferase domain
    pfam04961
    Location:410461
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:47219
    FTCD_N; Formiminotransferase domain, N-terminal subdomain

RNA

  1. XR_937433.3 RNA Sequence

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187626.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    4876..14626 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center