HYCC1 hyccin PI4KA lipid kinase complex subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HYCC1provided by HGNC
Official Full Name: hyccin PI4KA lipid kinase complex subunit 1provided by HGNC
Primary source: HGNC:HGNC:24587
See related: Ensembl:ENSG00000122591 MIM:610531; AllianceGenome:HGNC:24587
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HCC; HLD5; FAM126A; DRCTNNB1A
Summary: The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
Expression: Ubiquitous expression in lymph node (RPKM 7.3), testis (RPKM 6.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p15.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (22895843..23014130, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (23030828..23150674, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (22973830..23053749, complement)

Chromosome 7 - NC_000007.14 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?

CirRNA circFAM126A Exerts Oncogenic Functions in NSCLC to Upregulate IRS2.
Title: CirRNA circFAM126A Exerts Oncogenic Functions in NSCLC to Upregulate IRS2.
Downregulation of Drosophila TTC7 and Hyccin also reduces neuronal Abeta accumulation and associated synaptic and motor defects as well as premature death in Abeta42-expressing flies, while overexpression of TTC7 and Hyccin produced the opposite effect.
Title: TTC7 and Hyccin Regulate Neuronal Aβ42 Accumulation and its Associated Neural Deficits in Aβ42-Expressing Drosophila.
point to a role for FAM126A in supporting myelination, an important process in development and also following acute exacerbations in multiple sclerosis
Title: The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
A disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments.
Title: Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum.
Identified two novel FAM126A mutations in three hypomyelination and congenital cataract affected members of two unrelated families.
Title: Novel FAM126A mutations in hypomyelination and congenital cataract disease.
Two novel mutations in the FAM126A gene were identified in 2 unrelated families with Hypomyelination and congenital cataract
Title: Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.
Molecular analysis of 9 additional cases in this review depicts 3 novel mutations of FAM126A with clinical variability ranging from severe early-onset neurologic impairment to a milder phenotype
Title: Hypomyelination and congenital cataract: broadening the clinical phenotype.
Mutation of this gene results in defective myelination of both the central and peripheral nervous system.
Title: Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
A large intragenic deletion of DRCTNNB1A does not lead to congenital cataract in all of the patients in an afflicted family.
Title: A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypomyelination and Congenital Cataract MedGen: C1864663 OMIM: 610532 GeneReviews: Hypomyelination and Congenital Cataract	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Drctnnb1a-pending (e-PCR), detects polymorphism
- UniSTS:233985

RH45328 (e-PCR)
- UniSTS:43795

SHGC-106385 (e-PCR)
- UniSTS:169771

RH91850 (e-PCR)
- UniSTS:84278

STS-H44951 (e-PCR)
- UniSTS:80696

G20254 (e-PCR)
- UniSTS:51809

A005A03 (e-PCR)
- UniSTS:51810

SHGC-132520 (e-PCR)
- UniSTS:173936

SHGC-34206 (e-PCR)
- UniSTS:81036

RH94305 (e-PCR)
- UniSTS:83605

RH93616 (e-PCR)
- UniSTS:84688

SHGC-36561 (e-PCR)
- UniSTS:21473

D7S732 (e-PCR)
- UniSTS:42744

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in myelination	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol phosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: hyccin

Names: down regulated by Ctnnb1, a; down-regulated by CTNNB1 protein A; family with sequence similarity 126 member A

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.