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Ttc21b tetratricopeptide repeat domain 21B [ Mus musculus (house mouse) ]

Gene ID: 73668, updated on 5-Jan-2023

Summary

Official Symbol
Ttc21bprovided by MGI
Official Full Name
tetratricopeptide repeat domain 21Bprovided by MGI
Primary source
MGI:MGI:1920918
See related
Ensembl:ENSMUSG00000034848 AllianceGenome:MGI:1920918
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
aln; Thm1; mKIAA1992; 2410066K11Rik
Summary
Enables chromatin binding activity. Acts upstream of or within several processes, including central nervous system development; intraciliary retrograde transport; and regulation of signal transduction. Part of intraciliary transport particle A. Is expressed in central nervous system; embryo ectoderm; limb; and somite. Used to study cystic kidney disease. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 4 and nephronophthisis 12. Orthologous to human TTC21B (tetratricopeptide repeat domain 21B). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 13.3), CNS E14 (RPKM 4.5) and 20 other tissues See more
Orthologs
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Genomic context

See Ttc21b in Genome Data Viewer
Location:
2; 2 C1.3
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (66014131..66087144, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (66183787..66256674, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene cysteine-serine-rich nuclear protein 3 Neighboring gene predicted gene, 52514 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 3 Neighboring gene sodium channel, voltage-gated, type I, alpha Neighboring gene predicted gene 13630 Neighboring gene ribosomal protein L35, pseudogene 1 Neighboring gene predicted gene 13629

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)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within Bergmann glial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cerebellar Purkinje cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cerebellum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within forebrain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within forebrain dorsal/ventral pattern formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intraciliary retrograde transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within intraciliary retrograde transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intraciliary retrograde transport ISO
Inferred from Sequence Orthology
more info
 
involved_in intraciliary retrograde transport NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within negative regulation of eating behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within protein localization to non-motile cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of intraciliary retrograde transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within ventricular system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in cilium NAS
Non-traceable Author Statement
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
part_of intraciliary transport particle A IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of intraciliary transport particle A IDA
Inferred from Direct Assay
more info
PubMed 
part_of intraciliary transport particle A ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
tetratricopeptide repeat protein 21B
Names
TPR repeat protein 21B
intraflagellar transport 139 homolog
line 158
tetratricopeptide repeat-containing hedgehog modulator 1

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_001047604.3NP_001041069.1  tetratricopeptide repeat protein 21B isoform a

    See identical proteins and their annotated locations for NP_001041069.1

    Status: VALIDATED

    Source sequence(s)
    AL844526, AL928586
    Consensus CDS
    CCDS16076.1
    UniProtKB/Swiss-Prot
    Q0HA38, Q69Z46
    Related
    ENSMUSP00000099779.4, ENSMUST00000102718.10
    Conserved Domains (4) summary
    sd00006
    Location:883911
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:721754
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:720783
    TPR_11; TPR repeat
    pfam14559
    Location:895960
    TPR_19; Tetratricopeptide repeat
  2. NM_001290669.2NP_001277598.1  tetratricopeptide repeat protein 21B isoform b

    Status: VALIDATED

    Source sequence(s)
    AL844526, AL928586
    Consensus CDS
    CCDS71061.1
    UniProtKB/TrEMBL
    E9PVK4
    Related
    ENSMUSP00000131758.2, ENSMUST00000125446.3
    Conserved Domains (4) summary
    sd00006
    Location:883911
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:721754
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:720783
    TPR_11; TPR repeat
    pfam14559
    Location:895960
    TPR_19; Tetratricopeptide repeat

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_000068.8 Reference GRCm39 C57BL/6J

    Range
    66014131..66087144 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030252122.2XP_030107982.1  tetratricopeptide repeat protein 21B isoform X2

    Conserved Domains (2) summary
    TIGR02917
    Location:3131048
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:883911
    TPR; TPR repeat [structural motif]
  2. XM_006500263.5XP_006500326.1  tetratricopeptide repeat protein 21B isoform X1

    Conserved Domains (2) summary
    TIGR02917
    Location:3131048
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:883911
    TPR; TPR repeat [structural motif]