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

    Gene ID: 320244, updated on 8-Mar-2024

    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 D2; 12 39.81 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 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 STARR-seq mESC enhancer starr_32787 Neighboring gene STARR-seq mESC enhancer starr_32788 Neighboring gene feline leukemia virus subgroup C cellular receptor 2 Neighboring gene predicted gene, 40478 Neighboring gene STARR-seq mESC enhancer starr_32789 Neighboring gene ergosterol biosynthesis 28 Neighboring gene predicted gene, 51990 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:87310644-87310901 Neighboring gene STARR-positive B cell enhancer ABC_E5341 Neighboring gene predicted gene, 51989 Neighboring gene predicted gene, 37804 Neighboring gene transforming growth factor, beta 3 Neighboring gene intraflagellar transport 43 Neighboring gene STARR-seq mESC enhancer starr_32794

    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
    		  
    enables tubulin-glutamic acid ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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
    		  
    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
    		  
    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
      A4Q9E7, Q3V468, Q8C1F0, Q8CFV5, Q8CHB8, Q9CVS6
      UniProtKB/TrEMBL
      D3YVZ5
      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/TrEMBL
      D3YVZ5, 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
      UniProtKB/TrEMBL
      D3YVZ5
      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
      UniProtKB/TrEMBL
      D3YVZ5
      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
      UniProtKB/TrEMBL
      D3YVZ5
      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
      UniProtKB/TrEMBL
      D3YVZ5
      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
      UniProtKB/TrEMBL
      D3YVZ5
      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
      UniProtKB/TrEMBL
      H3BJ73

    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

    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

      UniProtKB/TrEMBL
      D3YVZ5
      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
      A4Q9E7, Q3V468, Q8C1F0, Q8CFV5, Q8CHB8, Q9CVS6
      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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
      A4Q9E7, Q3V468, Q8C1F0, Q8CFV5, Q8CHB8, Q9CVS6
      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      D3YVZ5
      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
      A4Q9E7, Q3V468, Q8C1F0, Q8CFV5, Q8CHB8, Q9CVS6
      UniProtKB/TrEMBL
      D3YVZ5
      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

      UniProtKB/TrEMBL
      H3BJ73

    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

      UniProtKB/TrEMBL
      H3BJ73

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

      See identical proteins and their annotated locations for XP_006516069.1

      UniProtKB/TrEMBL
      H3BJ73
      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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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