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Tctn1 tectonic family member 1 [ Mus musculus (house mouse) ]

Gene ID: 654470, updated on 26-Sep-2022

Summary

Official Symbol
Tctn1provided by MGI
Official Full Name
tectonic family member 1provided by MGI
Primary source
MGI:MGI:3603820
See related
Ensembl:ENSMUSG00000038593 AllianceGenome:MGI:3603820
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
Tect1; 4930565B19Rik; G730031O11Rik
Summary
Involved in cilium assembly and protein localization to ciliary transition zone. Acts upstream of or within in utero embryonic development; nervous system development; and regulation of smoothened signaling pathway. Located in ciliary transition zone; extracellular space; and membrane. Part of MKS complex. Is expressed in several structures, including gut epithelium; neural tube; node; notochord; and somite. Human ortholog(s) of this gene implicated in Joubert syndrome 13. Orthologous to human TCTN1 (tectonic family member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen adult (RPKM 47.2), mammary gland adult (RPKM 23.7) and 25 other tissues See more
Orthologs
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Genomic context

See Tctn1 in Genome Data Viewer
Location:
5; 5 F
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (122377558..122402557, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (122239495..122264489, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene myosin, light polypeptide 2, regulatory, cardiac, slow Neighboring gene coiled-coil domain containing 63 Neighboring gene protein phosphatase 1 catalytic subunit gamma Neighboring gene hydrogen voltage-gated channel 1 Neighboring gene RIKEN cDNA 1700112N08 gene Neighboring gene PTC7 protein phosphatase homolog Neighboring gene RAD9 checkpoint clamp component B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (2)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of MKS complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary transition zone IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 

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)

  1. NM_001039153.3NP_001034242.2  tectonic-1 precursor

    See identical proteins and their annotated locations for NP_001034242.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
    Source sequence(s)
    AC127266, AK036568, AK138661, AW121310, CX202489, DQ278867, DV657549
    Consensus CDS
    CCDS39254.1
    UniProtKB/Swiss-Prot
    Q8BUE2, Q8BZ64
    Related
    ENSMUSP00000107367.4, ENSMUST00000111738.8
    Conserved Domains (1) summary
    pfam07773
    Location:82395
    DUF1619; Protein of unknown function (DUF1619)

RNA

  1. NR_104441.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC127266, AK036568, AK138661, AW121310, CX202489, DQ278867, DV657549

RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    122377558..122402557 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001784734.3 RNA Sequence