TTLL7

protein-coding

tubulin tyrosine ligase like 7, the group of Tubulin tyrosine ligase family

Gene summary

Enables alpha-tubulin binding activity; beta-tubulin binding activity; and tubulin-glutamic acid ligase activity. Involved in protein polyglutamylation. Predicted to be located in 9+0 non-motile cilium. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_024686.6

Inheritance

—

ClinVar variants

U:94B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr1:83,865,024-83,999,150

External References & Databases

Ensembl (ENSG00000137941)

Transcript & Mutation Effects

hg38 • Region Span ~134.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TTLL7 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 94

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024686.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			91 clinvar	2 clinvar		93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	94	3	0	97

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024686.6	RefSeq	NP_078962.4	20	MANE Select
ENST00000260505.13	Ensembl	ENSP00000260505.8	20	MANE Select
NM_001350214.2	RefSeq	NP_001337143.1	20	Standard
NM_001350215.2	RefSeq	NP_001337144.1	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein modification
Metabolism of proteins
Carboxyterminal post-translational modifications of tubulin

Biological Process

nervous system development
protein polyglutamylation
cell differentiation

Molecular Function

ATP binding
alpha-tubulin binding
beta-tubulin binding
tubulin-glutamic acid ligase activity

Cellular Component

cytosol
microtubule
cilium
dendrite
perikaryon

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000260505
Coding exons: 20
Length: 134123
Individuals with no LoFs: 125683
Homozygous LoFs: 0
Heterozygous LoFs: 58
Defined: 125741
p: 0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.58	316	474	0.667	0.0000250	5823
Missense (PolyPhen)		55	143.08	0.38441		1698
Synonymous	-0.135	160	158	1.01	0.00000752	1607
Loss of Function	5.04	16	57.0	0.280	0.00000343	653

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00041	0.00038	rare
Ashkenazi Jewish	0.0019	0.0019	notable
East Asian	0.000055	0.000054	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.000097	0.000097	rare
South Asian	0.00016	0.00016	rare
Other	0.00083	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Polyglutamylase which preferentially modifies beta- tubulin (PubMed:25959773). Mediates both ATP-dependent initiation and elongation of polyglutamylation of microtubules (PubMed:25959773). Required for neurite growth; responsible for the strong increase in tubulin polyglutamylation during postnatal neuronal maturation (By similarity). {ECO:0000250|UniProtKB:A4Q9F0, ECO:0000269|PubMed:25959773}.;

Recessive Scores

pRec: 0.0943

Intolerance Scores

LoFtool: 0.587
RVIS EVS: -0.75
RVIS percentile EVS: 13.58

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.391

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium