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TTLL1 tubulin tyrosine ligase like 1 [ Homo sapiens (human) ]

Gene ID: 25809, updated on 12-Oct-2019

Summary

Official Symbol
TTLL1provided by HGNC
Official Full Name
tubulin tyrosine ligase like 1provided by HGNC
Primary source
HGNC:HGNC:1312
See related
Ensembl:ENSG00000100271 MIM:608955
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
C22orf7; HS323M22B
Expression
Broad expression in testis (RPKM 7.3), brain (RPKM 5.8) and 24 other tissues See more
Orthologs

Genomic context

See TTLL1 in Genome Data Viewer
Location:
22q13.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (43039516..43089428, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43435522..43485434, 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 uncharacterized LOC100506679 Neighboring gene ribosomal protein S25 pseudogene 10 Neighboring gene BCL2 interacting killer

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
tubulin-glutamic acid ligase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
epithelial cilium movement IEA
Inferred from Electronic Annotation
more info
 
protein polyglutamylation TAS
Traceable Author Statement
more info
PubMed 
sperm axoneme assembly IEA
Inferred from Electronic Annotation
more info
 
sperm flagellum movement involved in flagellated sperm motility IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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  probable tubulin polyglutamylase 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
    UniProtKB/TrEMBL
    A0A024R4U6
    Related
    ENSP00000266254.7, ENST00000266254.12
    Conserved Domains (1) summary
    pfam03133
    Location:59364
    TTL; Tubulin-tyrosine ligase family

RNA

  1. NR_027779.1 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 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    43039516..43089428 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028753.2XP_016884242.1  probable tubulin polyglutamylase TTLL1 isoform X2

    UniProtKB/Swiss-Prot
    O95922
    Conserved Domains (1) summary
    pfam03133
    Location:21326
    TTL; Tubulin-tyrosine ligase family
  2. XM_006724225.4XP_006724288.1  probable tubulin polyglutamylase TTLL1 isoform X3

    Conserved Domains (1) summary
    pfam03133
    Location:12267
    TTL; Tubulin-tyrosine ligase family
  3. XM_017028751.1XP_016884240.1  probable tubulin polyglutamylase TTLL1 isoform X1

    UniProtKB/Swiss-Prot
    O95922
    UniProtKB/TrEMBL
    A0A024R4U6
    Conserved Domains (1) summary
    pfam03133
    Location:59364
    TTL; Tubulin-tyrosine ligase family
  4. XM_017028752.1XP_016884241.1  probable tubulin polyglutamylase TTLL1 isoform X1

    UniProtKB/Swiss-Prot
    O95922
    UniProtKB/TrEMBL
    A0A024R4U6
    Related
    ENSP00000333734.7, ENST00000331018.8
    Conserved Domains (1) summary
    pfam03133
    Location:59364
    TTL; Tubulin-tyrosine ligase family
  5. XM_011530110.2XP_011528412.1  probable tubulin polyglutamylase TTLL1 isoform X4

    Conserved Domains (1) summary
    pfam03133
    Location:1250
    TTL; Tubulin-tyrosine ligase family
  6. XM_011530108.2XP_011528410.1  probable tubulin polyglutamylase TTLL1 isoform X2

    See identical proteins and their annotated locations for XP_011528410.1

    UniProtKB/Swiss-Prot
    O95922
    Conserved Domains (1) summary
    pfam03133
    Location:21326
    TTL; Tubulin-tyrosine ligase family

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.
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