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Ttll5 tubulin tyrosine ligase-like family, member 5 [ Mus musculus (house mouse) ]

Gene ID: 320244, updated on 18-Feb-2023

Summary

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Official Symbol
Ttll5provided by MGI
Official Full Name
tubulin tyrosine ligase-like family, member 5provided by MGI
Primary source
MGI:MGI:2443657
See related
Ensembl:ENSMUSG00000012609 AllianceGenome:MGI:2443657
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
Stamp; mKIAA0998; 1700048H13Rik; 2310009M18Rik; 4930556H18Rik; D630041K24Rik
Summary
Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Acts upstream of or within fertilization; protein polyglutamylation; and sperm axoneme assembly. Located in 9+0 non-motile cilium and ciliary basal body. Is expressed in choroid invagination; diencephalon roof plate; medulla oblongata part of 4th ventricle choroid plexus; and metencephalon part of 4th ventricle choroid plexus. Human ortholog(s) of this gene implicated in cone-rod dystrophy 19. Orthologous to human TTLL5 (tubulin tyrosine ligase like 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis adult (RPKM 34.3), cerebellum adult (RPKM 11.1) and 14 other tissues See more
Orthologs
human all
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Genomic context

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See Ttll5 in Genome Data Viewer
Location:
12; 12 D2
Exon count:
39
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (85871417..86100534)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (85824693..86053760)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene nuclear encoded rRNA 5S 64 Neighboring gene feline leukemia virus subgroup C cellular receptor 2 Neighboring gene predicted gene, 40478 Neighboring gene ergosterol biosynthesis 28 Neighboring gene predicted gene, 51990 Neighboring gene predicted gene, 51989 Neighboring gene predicted gene, 37804 Neighboring gene transforming growth factor, beta 3 Neighboring gene intraflagellar transport 43

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Disruption of Ttll5/stamp gene (tubulin tyrosine ligase-like protein 5/SRC-1 and TIF2-associated modulatory protein gene) in male mice causes sperm malformation and infertility. Lee GS, et al. J Biol Chem, 2013 May 24. PMID 23558686, Free PMC Article
  2. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Bedoni N, et al. Hum Mol Genet, 2016 Oct 15. PMID 28173158
  3. Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations. Sun X, et al. Proc Natl Acad Sci U S A, 2016 May 24. PMID 27162334, Free PMC Article
  4. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Sergouniotis PI, et al. Am J Hum Genet, 2014 May 1. PMID 24791901, Free PMC Article
  5. TTLL1 and TTLL4 polyglutamylases are required for the neurodegenerative phenotypes in pcd mice. Wu HY, et al. PLoS Genet, 2022 Apr. PMID 35404950, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mouse models carrying truncating mutations in TTLL5 gene display reduced fertility in male animals.
    Title: Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
  2. study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these two genes into a common disease pathway.
    Title: Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
  3. STAMP appears to participate in a unique, tissue-selective TTLL-mediated pathway for alpha-tubulin polyglutamylation that is required for sperm maturation and motility and may be relevant for male fertility.
    Title: Disruption of Ttll5/stamp gene (tubulin tyrosine ligase-like protein 5/SRC-1 and TIF2-associated modulatory protein gene) in male mice causes sperm malformation and infertility.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (4) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables tubulin-glutamic acid ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables tubulin-glutamic acid ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within fertilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in protein modification process IEA
Inferred from Electronic Annotation
more info
  
involved_in protein polyglutamylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acts_upstream_of_or_within protein polyglutamylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within retina development in camera-type eye ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in 9+0 non-motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cilium IDA
Inferred from Direct Assay
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 cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
tubulin polyglutamylase TTLL5
Names
polyglutamylase
tubulin tyrosine ligase like family 5
tubulin--tyrosine ligase-like protein 5
NP_001074892.2
NP_001334324.1
NP_001351553.1
NP_001351554.1
NP_001351555.1
NP_001351556.1
NP_001351557.1
NP_001351559.1
XP_006516052.1
XP_006516053.1
XP_006516054.1
XP_006516055.1
XP_006516057.1
XP_006516058.1
XP_006516059.1
XP_006516062.1
XP_006516064.1
XP_006516067.1
XP_006516069.1
XP_006516070.1
XP_017170598.1
XP_017170599.1
XP_017170601.1
XP_017170603.1
XP_030102633.1
XP_030102634.1
XP_030102635.1
XP_036013388.1
XP_036013389.1
XP_036013390.1
XP_036013391.1
XP_036013393.1
XP_036013394.1

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_001081423.3 → NP_001074892.2  tubulin polyglutamylase TTLL5 isoform 1

    See identical proteins and their annotated locations for NP_001074892.2

    Status: VALIDATED

    Source sequence(s)
    AC138303, AK009255, AK085566, AM690748, BQ031122, BY140783
    Consensus CDS
    CCDS36499.2
    UniProtKB/Swiss-Prot
    Q8CHB8, Q9CVS6
    Related
    ENSMUSP00000048809.8, ENSMUST00000040179.14
    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  2. NM_001347395.2 → NP_001334324.1  tubulin polyglutamylase TTLL5 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC138303, AK009255, AK085566, AM690748, BQ031122, BY140783
    Consensus CDS
    CCDS83991.1
    UniProtKB/Swiss-Prot
    Q8CHB8
    UniProtKB/TrEMBL
    E9Q425
    Related
    ENSMUSP00000039939.7, ENSMUST00000040273.14

  3. NM_001364624.1 → NP_001351553.1  tubulin polyglutamylase TTLL5 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC134328, AC138303
    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  4. NM_001364625.1 → NP_001351554.1  tubulin polyglutamylase TTLL5 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC134328, AC138303
    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  5. NM_001364626.1 → NP_001351555.1  tubulin polyglutamylase TTLL5 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC134328, AC138303
    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  6. NM_001364627.1 → NP_001351556.1  tubulin polyglutamylase TTLL5 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC134328, AC138303
    Conserved Domains (1) summary
    pfam03133
    Location:19 → 297
    TTL; Tubulin-tyrosine ligase family

  7. NM_001364628.1 → NP_001351557.1  tubulin polyglutamylase TTLL5 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC134328, AC138303
    Conserved Domains (1) summary
    cl17255
    Location:24 → 223
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  8. NM_001364630.1 → NP_001351559.1  tubulin polyglutamylase TTLL5 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC134328, AC138303

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_000078.7 Reference GRCm39 C57BL/6J

    Range
    85871417..86100534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006515989.5 → XP_006516052.1  tubulin polyglutamylase TTLL5 isoform X1

    See identical proteins and their annotated locations for XP_006516052.1

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  2. XM_030246774.2 → XP_030102634.1  tubulin polyglutamylase TTLL5 isoform X3

    UniProtKB/Swiss-Prot
    Q9CVS6
    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  3. XM_036157498.1 → XP_036013391.1  tubulin polyglutamylase TTLL5 isoform X9

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  4. XM_006515995.5 → XP_006516058.1  tubulin polyglutamylase TTLL5 isoform X6

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  5. XM_006515996.5 → XP_006516059.1  tubulin polyglutamylase TTLL5 isoform X7

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  6. XM_006515992.5 → XP_006516055.1  tubulin polyglutamylase TTLL5 isoform X2

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  7. XM_017315109.3 → XP_017170598.1  tubulin polyglutamylase TTLL5 isoform X8

    Related
    ENSMUSP00000105853.2, ENSMUST00000110224.8
    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  8. XM_017315110.3 → XP_017170599.1  tubulin polyglutamylase TTLL5 isoform X10

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  9. XM_006515994.5 → XP_006516057.1  tubulin polyglutamylase TTLL5 isoform X5

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  10. XM_036157500.1 → XP_036013393.1  tubulin polyglutamylase TTLL5 isoform X9

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  11. XM_006515990.5 → XP_006516053.1  tubulin polyglutamylase TTLL5 isoform X1

    See identical proteins and their annotated locations for XP_006516053.1

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  12. XM_036157495.1 → XP_036013388.1  tubulin polyglutamylase TTLL5 isoform X1

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  13. XM_030246773.2 → XP_030102633.1  tubulin polyglutamylase TTLL5 isoform X3

    UniProtKB/Swiss-Prot
    Q9CVS6
    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  14. XM_036157496.1 → XP_036013389.1  tubulin polyglutamylase TTLL5 isoform X4

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  15. XM_036157501.1 → XP_036013394.1  tubulin polyglutamylase TTLL5 isoform X16

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  16. XM_017315114.3 → XP_017170603.1  tubulin polyglutamylase TTLL5 isoform X17

    Related
    ENSMUSP00000134971.2, ENSMUST00000155448.9
    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  17. XM_006515999.5 → XP_006516062.1  tubulin polyglutamylase TTLL5 isoform X11

    Conserved Domains (1) summary
    pfam03133
    Location:19 → 297
    TTL; Tubulin-tyrosine ligase family

  18. XM_030246775.2 → XP_030102635.1  tubulin polyglutamylase TTLL5 isoform X12

    Conserved Domains (1) summary
    cl17255
    Location:24 → 223
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  19. XM_017315112.3 → XP_017170601.1  tubulin polyglutamylase TTLL5 isoform X12

    Conserved Domains (1) summary
    cl17255
    Location:24 → 223
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  20. XM_006515991.4 → XP_006516054.1  tubulin polyglutamylase TTLL5 isoform X1

    See identical proteins and their annotated locations for XP_006516054.1

    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  21. XM_036157497.1 → XP_036013390.1  tubulin polyglutamylase TTLL5 isoform X3

    UniProtKB/Swiss-Prot
    Q9CVS6
    Conserved Domains (1) summary
    pfam03133
    Location:117 → 395
    TTL; Tubulin-tyrosine ligase family

  22. XM_006516004.2 → XP_006516067.1  tubulin polyglutamylase TTLL5 isoform X14

  23. XM_006516001.4 → XP_006516064.1  tubulin polyglutamylase TTLL5 isoform X13

    Conserved Domains (1) summary
    cl17255
    Location:9 → 56
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  24. XM_006516007.2 → XP_006516070.1  tubulin polyglutamylase TTLL5 isoform X15

    See identical proteins and their annotated locations for XP_006516070.1

  25. XM_006516006.1 → XP_006516069.1  tubulin polyglutamylase TTLL5 isoform X15

    See identical proteins and their annotated locations for XP_006516069.1

    Related
    ENSMUSP00000134874.2, ENSMUST00000177168.8

RNA

  1. XR_004937518.1 RNA Sequence

  2. XR_004937517.1 RNA Sequence

    Related
    ENSMUST00000177114.2

  3. XR_001780460.3 RNA Sequence

  4. XR_001780461.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_177114.2: Suppressed sequence

    Description
    NM_177114.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8CHB8.3 GenPept UniProtKB/Swiss-Prot:Q8CHB8

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