TTLL8 tubulin tyrosine ligase like 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTLL8provided by HGNC
Official Full Name: tubulin tyrosine ligase like 8provided by HGNC
Primary source: HGNC:HGNC:34000
See related: Ensembl:ENSG00000138892 MIM:619193; AllianceGenome:HGNC:34000
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
Summary: Predicted to enable protein-glycine ligase activity, initiating. Predicted to be involved in protein polyglycylation. Predicted to act upstream of or within cilium assembly. Predicted to be located in axoneme and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 2.3) See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.33

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (50018575..50058298, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (50523480..50564968, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (50457004..50496656, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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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 protein-glycine ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-glycine ligase activity	TAS Traceable Author Statement more info
enables protein-glycine ligase activity, initiating	IBA Inferred from Biological aspect of Ancestor more info
enables protein-glycine ligase activity, initiating	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein polyglycylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyglycylation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein monoglycylase TTLL8

Names: tubulin tyrosine ligase-like family, member 8; tubulin--tyrosine ligase-like protein 8

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)

NM_001350317.3 → NP_001337246.1 protein monoglycylase TTLL8

Status: VALIDATED

Source sequence(s)

AL022327

Consensus CDS

CCDS93183.1

UniProtKB/Swiss-Prot

A6PVC2, B5MDV0

UniProtKB/TrEMBL

A0A1C7CYW9

Related

ENSP00000392252.2, ENST00000433387.2

Conserved Domains (1) summary

pfam03133
Location:348 → 574

TTL; Tubulin-tyrosine ligase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

50018575..50058298 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024452173.1 → XP_024307941.1 protein monoglycylase TTLL8 isoform X2

UniProtKB/Swiss-Prot

A6PVC2, B5MDV0

Conserved Domains (1) summary

pfam03133
Location:347 → 573

TTL; Tubulin-tyrosine ligase family
XM_024452172.1 → XP_024307940.1 protein monoglycylase TTLL8 isoform X1

UniProtKB/Swiss-Prot

A6PVC2, B5MDV0

Conserved Domains (1) summary

pfam03133
Location:348 → 574

TTL; Tubulin-tyrosine ligase family
XM_024452174.1 → XP_024307942.1 protein monoglycylase TTLL8 isoform X3

Conserved Domains (1) summary

pfam03133
Location:217 → 443

TTL; Tubulin-tyrosine ligase family
XM_024452177.1 → XP_024307945.1 protein monoglycylase TTLL8 isoform X4

Conserved Domains (1) summary

pfam03133
Location:137 → 363

TTL; Tubulin-tyrosine ligase family
XM_024452175.1 → XP_024307943.1 protein monoglycylase TTLL8 isoform X4

Conserved Domains (1) summary

pfam03133
Location:137 → 363

TTL; Tubulin-tyrosine ligase family
XM_024452176.1 → XP_024307944.1 protein monoglycylase TTLL8 isoform X4

Conserved Domains (1) summary

pfam03133
Location:137 → 363

TTL; Tubulin-tyrosine ligase family
XM_047441179.1 → XP_047297135.1 protein monoglycylase TTLL8 isoform X5

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

50523480..50564968 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325212.1 → XP_054181187.1 protein monoglycylase TTLL8 isoform X2
XM_054325211.1 → XP_054181186.1 protein monoglycylase TTLL8 isoform X1
XM_054325213.1 → XP_054181188.1 protein monoglycylase TTLL8 isoform X3
XM_054325216.1 → XP_054181191.1 protein monoglycylase TTLL8 isoform X4
XM_054325214.1 → XP_054181189.1 protein monoglycylase TTLL8 isoform X4
XM_054325215.1 → XP_054181190.1 protein monoglycylase TTLL8 isoform X4
XM_054325217.1 → XP_054181192.1 protein monoglycylase TTLL8 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001080447.1: Suppressed sequence

Description

NM_001080447.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.