Ttc7 tetratricopeptide repeat domain 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ttc7provided by MGI
Official Full Name: tetratricopeptide repeat domain 7provided by MGI
Primary source: MGI:MGI:1920999
See related: Ensembl:ENSMUSG00000036918 AllianceGenome:MGI:1920999
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: fsn; hea; Ttc7a; 1110035E02Rik; 1700007L07Rik
Summary: Acts upstream of or within cellular iron ion homeostasis and hemopoiesis. Predicted to be located in cytoplasm and membrane. Predicted to be active in plasma membrane. Used to study psoriasis. Human ortholog(s) of this gene implicated in multiple intestinal atresia. Orthologous to human TTC7A (tetratricopeptide repeat domain 7A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in duodenum adult (RPKM 23.6), spleen adult (RPKM 20.7) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E4; 17 57.12 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (87590328..87689197)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (87282808..87381770)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Actin dynamics regulation by TTC7A/PI4KIIIalpha limits DNA damage and cell death under confinement.
Title: Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.
Ttc7a regulates hematopoietic stem cell functions while controlling the stress-induced response.
Title: Ttc7a regulates hematopoietic stem cell functions while controlling the stress-induced response.
Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes.
Title: Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes.
novel mutation results in multiple intestinal atresia and combined immunodeficiency
Title: Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.
speculate that TTC7 plays an important role in iron transport
Title: Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.
Ttc7 is expressed in multiple types of tissue including skin, kidney, spleen, and thymus, but is most abundant in germinal center B cells and hematopoietic stem cells, suggesting an important role in the development of immune system cells
Title: The Tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: a model for psoriasis, autoimmunity, and anemia.
Data confirmed that the Ttc7 mutations, is responsible for abnormal phenotypes observed in various tissues of mice with the flaky skin mutation.
Title: The novel tetratricopeptide repeat domain 7 mutation, Ttc7fsn-Jic, with deletion of the TPR-2B repeat causes severe flaky skin phenotype.

Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description	Tests
flaky skin GeneReviews: Not available
hereditary erythroblastic anemia GeneReviews: Not available
Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas.[MGI] GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (3) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
acts_upstream_of_or_within hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tetratricopeptide repeat protein 7A

Names: TPR repeat protein 7A

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001404087.1 → NP_001391016.1 tetratricopeptide repeat protein 7A isoform 1

Status: VALIDATED

Source sequence(s)

AC084383
NM_001404088.1 → NP_001391017.1 tetratricopeptide repeat protein 7A isoform 3

Status: VALIDATED

Source sequence(s)

AC084383
NM_028639.4 → NP_082915.1 tetratricopeptide repeat protein 7A isoform 2

See identical proteins and their annotated locations for NP_082915.1

Status: VALIDATED

Source sequence(s)

AC084383

Consensus CDS

CCDS29016.1

UniProtKB/Swiss-Prot

Q80XT5, Q8BGB2

UniProtKB/TrEMBL

D3Z0R8

Related

ENSMUSP00000040771.6, ENSMUST00000041110.12

Conserved Domains (3) summary

sd00006
Location:747 → 773

TPR; TPR repeat [structural motif]

pfam13414
Location:712 → 776

TPR_11; TPR repeat

pfam13432
Location:749 → 808

TPR_16; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

87590328..87689197

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006524202.5 → XP_006524265.1 tetratricopeptide repeat protein 7A isoform X3

Conserved Domains (3) summary

COG3118
Location:507 → 597

YbbN; Negative regulator of GroEL, contains thioredoxin-like and TPR-like domains [Posttranslational modification, protein turnover, chaperones]

sd00008
Location:490 → 525

TPR_YbbN; TPR repeat [structural motif]

sd00006
Location:529 → 568

TPR; TPR repeat [structural motif]
XM_017317451.1 → XP_017172940.1 tetratricopeptide repeat protein 7A isoform X4

UniProtKB/TrEMBL

Q3TNI8

Conserved Domains (2) summary

TIGR00990
Location:350 → 588

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:492 → 518

TPR; TPR repeat [structural motif]
XM_011246415.3 → XP_011244717.1 tetratricopeptide repeat protein 7A isoform X5

UniProtKB/TrEMBL

Q3TNI8

Conserved Domains (2) summary

TIGR00990
Location:207 → 445

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:349 → 375

TPR; TPR repeat [structural motif]