Ftcd MGI Mouse Gene Detail - MGI:1339962 - formiminotransferase cyclodeaminase

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Ftcd Gene Detail

Symbol

Ftcd
Name

formiminotransferase cyclodeaminase
Synonyms

glutamate formiminotransferase

Feature Type

protein coding gene
IDs

MGI:1339962
NCBI Gene: 14317
Alliance

gene page
Transcription Start Sites

5 TSS
Candidate for QTL

3 QTL

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Sequence Map

Chr10:76411482-76426172 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.25 cM
Mapping Data

4 experiments

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SNPs within 2kb

521 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1339962	protein coding gene	Chr10:76411482-76426172 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017387	protein coding gene	Chr10:76829175-76845363 (+)
A/J	MGP_AJ_G0017364	protein coding gene	Chr10:74169745-74184260 (+)
AKR/J	MGP_AKRJ_G0017325	protein coding gene	Chr10:76168470-76184394 (+)
BALB/cJ	MGP_BALBcJ_G0017324	protein coding gene	Chr10:74372895-74388807 (+)
C3H/HeJ	MGP_C3HHeJ_G0017148	protein coding gene	Chr10:76247130-76264267 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017782	protein coding gene	Chr10:79531805-79548775 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015472	protein coding gene	Chr10:70614267-70628998 (+)
CAST/EiJ	MGP_CASTEiJ_G0016718	protein coding gene	Chr10:76566125-76582060 (+)
CBA/J	MGP_CBAJ_G0017120	protein coding gene	Chr10:82647766-82666222 (+)
DBA/2J	MGP_DBA2J_G0017225	protein coding gene	Chr10:73471283-73486392 (+)
FVB/NJ	MGP_FVBNJ_G0017217	protein coding gene	Chr10:72629371-72645443 (+)
LP/J	MGP_LPJ_G0017298	protein coding gene	Chr10:77309689-77328430 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017246	protein coding gene	Chr10:84700263-84719145 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017821	protein coding gene	Chr10:76230321-76245970 (+)
PWK/PhJ	MGP_PWKPhJ_G0016502	protein coding gene	Chr10:73319173-73334531 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016285	protein coding gene	Chr10:75454682-75469085 (+)
WSB/EiJ	MGP_WSBEiJ_G0016781	protein coding gene	Chr10:76205399-76221041 (+)

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Human Ortholog

FTCD, formimidoyltransferase cyclodeaminase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

FTCD, formimidoyltransferase cyclodeaminase
Synonyms

LCHC1
Links

HGNC:3974

NCBI Gene ID: 10841

neXtProt AC: NX_O95954

UniProt: O95954
Chr Location

21q22.3; chr21:46136160-46155579 (-) GRCh38

MGI Vertebrate Homology

Ftcd stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: FTCD
Gene Tree

Ftcd

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Diseases

1 with human FTCD associations

				Human Disease	Mouse Models
				glutamate formiminotransferase deficiency IDs glutamate formiminotransferase deficiency DOID:0111679 MESH:C537425 OMIM:229100 ORDO:51208 UMLS_CUI:C0268609

Click on a disease name to see all genes associated with that disease.

References

2 with disease annotations

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Phenotype Summary

38 phenotype references

All Mutations and Alleles

16
Chemically induced (other)

1
Endonuclease-mediated

9
Targeted

6
Genomic Mutations

5 involving Ftcd
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

31 strains or lines available

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All GO Annotations

31
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

872
Tissues

136
cDNA Data

41
Literature Summary

8

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ftcd

ZFIN ftcd

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All Sequences

45
RefSeq

6
UniProt

1
CCDS

CCDS23950.1

Ensembl

ENSMUSG00000001155 (Evidence)
NCBI Gene

14317

Representative Sequences				Length	Strain/Species	Flank
	genomic	14317	NCBI Gene Model \| MGI Sequence Detail	14691	C57BL/6J	± kb
	transcript	NM_080845	RefSeq \| MGI Sequence Detail	2710	ZRU/MplStud
	polypeptide	Q91XD4	UniProt \| EBI \| MGI Sequence Detail	541	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000007689 formimidoyltransferase-cyclodeaminase

(term hierarchy)
EC

2.1.2.5, 4.3.1.4
InterPro Domains

IPR007044 Cyclodeaminase/cyclohydrolase

IPR036178 Formimidoyltransferase-cyclodeaminase-like superfamily

IPR004227 Formiminotransferase catalytic domain

IPR022384 Formiminotransferase catalytic domain superfamily

IPR013802 Formiminotransferase, C-terminal subdomain

IPR037070 Formiminotransferase, C-terminal subdomain superfamily

IPR051623 Formiminotransferase-cyclodeaminase

IPR012886 Formiminotransferase, N-terminal subdomain

IPR037064 Formiminotransferase, N-terminal subdomain superfamily
GlyGen

Q91XD4 1 site, 1 O-linked glycan (1 site)

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All nucleic 45

Genomic 1

cDNA 41

Primer pair 3

Microarray probesets 3

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Summaries

All 76

Developmental Gene Expression 8

Diseases 2

Gene Ontology 8

Phenotypes 38
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:357279 Donovan MG, et al., Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 Aug 27;43(8):114599

TSS for Ftcd:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94190	Chr10:76411474-76411490 (+)	0 bp
Tssr94191	Chr10:76412232-76412253 (+)	761 bp
Tssr94192	Chr10:76417369-76417380 (+)	5,893 bp
Tssr94193	Chr10:76419709-76419716 (+)	8,231 bp
Tssr94194	Chr10:76419726-76419734 (+)	8,248 bp

Ftcd is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Bgeq8	Chr10, 66.75 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Bgeq8 (57 cM) on mouse Chromosome 10 as identified by ExQuest are Rdh7 and Hsd17b9. Hsd17b9 exhibits 9.5-fold increased expression in the liver of Tally Ho compared to C57BL/6J animals. For QTLs Insq9 (44 cM) and Igfbp3q2 (46 cM), potential candidate genes Ass1 (20 cM Chr 2)), Ftcd, Col18a1 (41.3 cM), Itgb2 (41.5 cM), Agpat3 (41.8 cM), Ndufs7, Oaz1 (43 cM), Pah (47 cM), Igf1 (48 cM), Nr1h4 (50 cM), and Kitl (57 cM) were identified.
Igfbp3q2	Chr10, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Bgeq8 (57 cM) on mouse Chromosome 10 as identified by ExQuest are Rdh7 and Hsd17b9. Hsd17b9 exhibits 9.5-fold increased expression in the liver of Tally Ho compared to C57BL/6J animals. For QTLs Insq9 (44 cM) and Igfbp3q2 (46 cM), potential candidate genes Ass1 (20 cM Chr 2)), Ftcd, Col18a1 (41.3 cM), Itgb2 (41.5 cM), Agpat3 (41.8 cM), Ndufs7, Oaz1 (43 cM), Pah (47 cM), Igf1 (48 cM), Nr1h4 (50 cM), and Kitl (57 cM) were identified.
Insq9	Chr10, 39.72 cM	Chr10:82490938-82491121	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Bgeq8 (57 cM) on mouse Chromosome 10 as identified by ExQuest are Rdh7 and Hsd17b9. Hsd17b9 exhibits 9.5-fold increased expression in the liver of Tally Ho compared to C57BL/6J animals. For QTLs Insq9 (44 cM) and Igfbp3q2 (46 cM), potential candidate genes Ass1 (20 cM Chr 2)), Ftcd, Col18a1 (41.3 cM), Itgb2 (41.5 cM), Agpat3 (41.8 cM), Ndufs7, Oaz1 (43 cM), Pah (47 cM), Igf1 (48 cM), Nr1h4 (50 cM), and Kitl (57 cM) were identified.

*cM position of peak correlated region/marker

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