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TTLL1 TTL family tubulin polyglutamylase complex subunit L1 [ Homo sapiens (human) ]

Gene ID: 25809, updated on 5-Aug-2022

Summary

Official Symbol
TTLL1provided by HGNC
Official Full Name
TTL family tubulin polyglutamylase complex subunit L1provided by HGNC
Primary source
HGNC:HGNC:1312
See related
Ensembl:ENSG00000100271 MIM:608955; AllianceGenome:HGNC:1312
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TPGS3; C22orf7; HS323M22B
Summary
Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization and protein polyglutamylation. Predicted to act upstream of or within several processes, including cerebellar Purkinje cell differentiation; mucociliary clearance; and regulation of blastocyst development. Predicted to be located in cytoplasm; extracellular region; and microtubule cytoskeleton. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 7.3), brain (RPKM 5.8) and 24 other tissues See more
Orthologs
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Genomic context

See TTLL1 in Genome Data Viewer
Location:
22q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (43039516..43089391, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43520523..43570587, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43435522..43485397, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene protein kinase C and casein kinase substrate in neurons 2 Neighboring gene Sharpr-MPRA regulatory region 5708 Neighboring gene Sharpr-MPRA regulatory region 1755 Neighboring gene TTLL1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 1995 Neighboring gene Sharpr-MPRA regulatory region 7153 Neighboring gene ribosomal protein S25 pseudogene 10

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion 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 TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in cerebellar Purkinje cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in immune response in nasopharyngeal-associated lymphoid tissue IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mucociliary clearance IEA
Inferred from Electronic Annotation
more info
 
involved_in protein polyglutamylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein polyglutamylation TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of blastocyst development IEA
Inferred from Electronic Annotation
more info
 
involved_in sperm axoneme assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in ciliary basal body IEA
Inferred from Electronic Annotation
more info
 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
polyglutamylase complex subunit TTLL1
Names
PGs3
catalytic subunit of neural tubulin polyglutamylase
polyglutamylase subunit 3
probable tubulin polyglutamylase TTLL1
tubulin polyglutamylase TTLL1
tubulin polyglutamylase complex subunit 3
tubulin tyrosine ligase like 1
tubulin tyrosine ligase-like family, member 1
tubulin--tyrosine ligase-like protein 1
tubulin-tyrosine ligase

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_012263.5NP_036395.1  polyglutamylase complex subunit TTLL1

    See identical proteins and their annotated locations for NP_036395.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the functional protein.
    Source sequence(s)
    AI369631, AL136687, BG911167, DA247656
    Consensus CDS
    CCDS14043.1
    UniProtKB/Swiss-Prot
    O95922, Q9UMU0
    UniProtKB/TrEMBL
    A0A024R4U6
    Related
    ENSP00000266254.7, ENST00000266254.12
    Conserved Domains (1) summary
    pfam03133
    Location:59364
    TTL; Tubulin-tyrosine ligase family

RNA

  1. NR_027779.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF173935, AI369631, AL022476, AL136687, BG911167, DA247656
    Related
    ENST00000439248.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    43039516..43089391 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    43520523..43570587 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001008572.1: Suppressed sequence

    Description
    NM_001008572.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.