Gene

htt

ID

ZDB-GENE-990415-131

Name

huntingtin

Symbol

htt Nomenclature History

Previous Names

etID309952.1 (1)
hd (1)
ZHD (1)

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Acts upstream of or within several processes, including chordate embryonic development; positive regulation of brain-derived neurotrophic factor receptor signaling pathway; and regulation of cell-cell adhesion mediated by cadherin. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in brain; head; intermediate cell mass of mesoderm; and post-vent region. Used to study Huntington's disease. Human ortholog(s) of this gene implicated in Huntington's disease and Parkinson's disease. Orthologous to human HTT (huntingtin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 17 figures from 6 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With htt Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Huntington's disease	Alliance	Huntington disease	143100
		Lopes-Maciel-Rodan syndrome	617435

Associated With htt Via Experimental Models

Human Disease	Fish	Conditions	Citations
Huntington's disease	WT + MO1-htt	standard conditions	Conforti et al., 2013

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR000091	Huntingtin
Family	IPR028426	Huntingtin family
Homologous_superfamily	IPR011989	Armadillo-like helical
Homologous_superfamily	IPR016024	Armadillo-type fold
Repeat	IPR024613	Huntingtin, N-terminal, HEAT repeats 2
Repeat	IPR048411	Huntingtin, N-terminal, HEAT repeats 1
Repeat	IPR048412	Huntingtin, bridge
Repeat	IPR048413	Huntingtin, C-terminal HEAT repeats

Domain Details Per Protein

Protein	Length	Armadillo-like helical	Armadillo-type fold	Huntingtin	Huntingtin, bridge	Huntingtin, C-terminal HEAT repeats	Huntingtin family	Huntingtin, N-terminal, HEAT repeats 1	Huntingtin, N-terminal, HEAT repeats 2
UniProtKB:A0A8M3AU50 InterPro	3169
UniProtKB:A0A8M2B6V6 InterPro	3115
UniProtKB:A0A8M3AIU2 InterPro	3106
UniProtKB:A0A8M3B295 InterPro	3178
UniProtKB:A0A8M3AIT6 InterPro	3184
UniProtKB:O42269 InterPro	3121