Ttyh1 tweety family member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ttyh1provided by MGI
Official Full Name: tweety family member 1provided by MGI
Primary source: MGI:MGI:1889007
See related: Ensembl:ENSMUSG00000030428 AllianceGenome:MGI:1889007
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: tty; TTY1; mTTY1; 4930459B04Rik; 6330408P11Rik
Summary: This gene encodes a member of the Tweety family of membrane proteins. Members of this family contain five predicted transmembrane regions that are arranged in a characteristic pattern. In mouse, the protein is predominantly localized to the endoplasmic reticulum and displays calcium binding activity. Targeted knock out of this gene results in early embryonic lethality prior to the blastocyst stage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Expression: Biased expression in cortex adult (RPKM 116.7), frontal lobe adult (RPKM 114.2) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A1; 7 2.38 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (4122418..4139206)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (4119530..4135407)

Chromosome 7 - NC_000073.7 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?

Tweety-Homolog 1 Facilitates Pain via Enhancement of Nociceptor Excitability and Spinal Synaptic Transmission.
Title: Tweety-Homolog 1 Facilitates Pain via Enhancement of Nociceptor Excitability and Spinal Synaptic Transmission.
Ttyh1, which is likely downstream to Notch signaling, plays an important role in regulating neural stem cells.
Title: Deficiency of Ttyh1 downstream to Notch signaling results in precocious differentiation of neural stem cells.
Ttyh1 enhances embryonic neural stem cell properties.Ttyh1 increases Notch target gene expression.
Title: Ttyh1 regulates embryonic neural stem cell properties by enhancing the Notch signaling pathway.
In this report, we identify tweety-homolog 1 (Ttyh1), a membrane protein linked to neuronal development, as a potent driver of tumor microtube (TM)-mediated brain colonization by glioma cells.
Title: Tweety-Homolog 1 Drives Brain Colonization of Gliomas.
Ttyh1 plays an indispensable role during mitosis in early embryogenesis, possibly by maintaining Ca(2+) homeostasis in the ER.
Title: Ttyh1, a Ca(2+)-binding protein localized to the endoplasmic reticulum, is required for early embryonic development.

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Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Gene trapped (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Ttyh1 (e-PCR), detects polymorphism
- UniSTS:507293

RH128306 (e-PCR)
- UniSTS:211614

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables intracellularly calcium-gated chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables volume-sensitive chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables volume-sensitive chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables volume-sensitive chloride channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in L-glutamate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell-substrate adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within filopodium assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon	ISO Inferred from Sequence Orthology more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in filopodium membrane	IDA Inferred from Direct Assay more info	PubMed
located_in filopodium tip	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in smooth endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in smooth endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	EXP Inferred from Experiment more info	PubMed
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein tweety homolog 1

Names: tweety homolog 1; volume-regulated anion channel subunit Ttyh1

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_001001454.4 → NP_001001454.2 protein tweety homolog 1 isoform 1

See identical proteins and their annotated locations for NP_001001454.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK018148, AK043998, AK081274

Consensus CDS

CCDS51970.1

UniProtKB/Swiss-Prot

Q9D3A9

Related

ENSMUSP00000078384.6, ENSMUST00000079415.12

Conserved Domains (1) summary

pfam04906
Location:26 → 424

Tweety; Tweety
NM_001109765.2 → NP_001103235.1 protein tweety homolog 1 isoform 2

See identical proteins and their annotated locations for NP_001103235.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and uses an alternate exon in the 3' coding region that causes a frameshift compared to variant 1. It encodes isoform 2, which has a shorter and novel C-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.

Source sequence(s)

AK018148, AK043998, AK081274

Consensus CDS

CCDS20730.1

UniProtKB/Swiss-Prot

Q6L751, Q6P0A7, Q8BRL4, Q8C7M4, Q9D3A9, Q9D5D1, Q9EQN7, Q9ESC3

Related

ENSMUSP00000113937.2, ENSMUST00000119661.8

Conserved Domains (1) summary

pfam04906
Location:26 → 420

Tweety; Tweety
NM_001305822.1 → NP_001292751.1 protein tweety homolog 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences compared to variant 1. These differences result in use of a downstream start codon and a frameshift in the 3' coding region. It encodes isoform 3, which has a shorter N-terminus and a shorter and distinct C-terminus compared to isoform 3.

Source sequence(s)

AC110496, AK018148, AK042758, AK043998, AK083126

UniProtKB/TrEMBL

A0A0U1RPU8

Conserved Domains (1) summary

cl12141
Location:1 → 255

Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
NM_021324.6 → NP_067299.2 protein tweety homolog 1 isoform 2

See identical proteins and their annotated locations for NP_067299.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate exon in the 3' coding region that causes a frameshift compared to variant 1. It encodes isoform 2, which has a shorter and novel C-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.

Source sequence(s)

AK018148, AK043998, AK081274

Consensus CDS

CCDS20730.1

UniProtKB/Swiss-Prot

Q6L751, Q6P0A7, Q8BRL4, Q8C7M4, Q9D3A9, Q9D5D1, Q9EQN7, Q9ESC3

Related

ENSMUSP00000120182.2, ENSMUST00000129423.8

Conserved Domains (1) summary

pfam04906
Location:26 → 420

Tweety; Tweety

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_000073.7 Reference GRCm39 C57BL/6J

Range

4122418..4139206

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036153299.1 → XP_036009192.1 protein tweety homolog 1 isoform X1

Conserved Domains (1) summary

pfam04906
Location:26 → 424

Tweety
XM_036153301.1 → XP_036009194.1 protein tweety homolog 1 isoform X3

UniProtKB/TrEMBL

A0A0U1RPU8

Related

ENSMUSP00000146131.2, ENSMUST00000206869.2

Conserved Domains (1) summary

cl12141
Location:1 → 255

Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
XM_036153303.1 → XP_036009196.1 protein tweety homolog 1 isoform X3

UniProtKB/TrEMBL

A0A0U1RPU8

Conserved Domains (1) summary

cl12141
Location:1 → 255

Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
XM_036153300.1 → XP_036009193.1 protein tweety homolog 1 isoform X2

Conserved Domains (1) summary

cl12141
Location:1 → 259

Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
XM_036153302.1 → XP_036009195.1 protein tweety homolog 1 isoform X3

UniProtKB/TrEMBL

A0A0U1RPU8

Conserved Domains (1) summary

cl12141
Location:1 → 255

Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels