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UniProtKB - Q9BYI3 (HYCCI_HUMAN)

Entry version 135 (07 Oct 2020)
Sequence version 2 (11 Oct 2005)
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Protein

Hyccin

Gene

FAM126A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns4P) synthesis (PubMed:26571211). FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns4P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:26571211, PubMed:16951682). May also have a role in the beta-catenin/Lef signaling pathway (Probable).1 Publication2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BYI3

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Hyccin1 Publication
Alternative name(s):
Down-regulated by CTNNB1 protein A1 Publication
Protein FAM126ACurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FAM126A
Synonyms:DRCTNNB1A1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000122591.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:24587, FAM126A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610531, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BYI3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Leukodystrophy, hypomyelinating, 5 (HLD5)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03064753L → P in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 PublicationsCorresponds to variant dbSNP:rs72549407EnsemblClinVar.1
Natural variantiVAR_07510057C → R in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 Publications1

Keywords - Diseasei

Cataract, Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNET

More...DisGeNETi		84668

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		FAM126A

MalaCards human disease database

More...MalaCardsi		FAM126A
MIMi610532, phenotype

Open Targets

More...OpenTargetsi		ENSG00000122591

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		85163, Hypomyelination-congenital cataract syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162385852

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BYI3, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FAM126A

Domain mapping of disease mutations (DMDM)

More...DMDMi		77416421

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000800051 – 521HyccinAdd BLAST521

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei306PhosphothreonineCombined sources1
Modified residuei321PhosphoserineBy similarity1
Modified residuei415PhosphoserineCombined sources1
Modified residuei422PhosphoserineCombined sources1
Modified residuei433PhosphoserineCombined sources1
Modified residuei453PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BYI3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BYI3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BYI3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BYI3

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BYI3

PeptideAtlas

More...PeptideAtlasi		Q9BYI3

PRoteomics IDEntifications database

More...PRIDEi		Q9BYI3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		7387
79652 [Q9BYI3-1]
79653 [Q9BYI3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BYI3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BYI3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated by beta-catenin.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000122591, Expressed in gastrocnemius and 214 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BYI3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BYI3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000122591, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:26571211).

Interacts with TTC7 (TTC7A or TTC7B), interaction is direct (PubMed:26571211).

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124188, 19 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9BYI3

Protein interaction database and analysis system

More...IntActi		Q9BYI3, 14 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000403396

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BYI3, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1521
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9BYI3

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FAM126 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4688, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000011295

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_027457_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BYI3

KEGG Orthology (KO)

More...KOi		K21844

Identification of Orthologs from Complete Genome Data

More...OMAi		NRATYEM

Database of Orthologous Groups

More...OrthoDBi		673408at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BYI3

TreeFam database of animal gene trees

More...TreeFami		TF317153

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR018619, Hyccin

The PANTHER Classification System

More...PANTHERi		PTHR31220, PTHR31220, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF09790, Hyccin, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BYI3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFTSEKGVVE EWLSEFKTLP ETSLPNYATN LKDKSSLVSS LYKVIQEPQS 
        60         70         80         90        100
ELLEPVCHQL FEFYRSGEEQ LLQFTLQFLP ELIWCYLAVS ASRNVHSSGC 
       110        120        130        140        150
IEALLLGVYN LEIVDKQGHT KVLSFTIPSL SKPSVYHEPS SIGSMALTES 
       160        170        180        190        200
ALSQHGLSKV VYSGPHPQRE MLTAQNRFEV LTFLLLCYNA ALTYMPSVSL 
       210        220        230        240        250
QSLCQICSRI CVCGYPRQHV RKYKGISSRI PVSSGFMVQM LTGIYFAFYN 
       260        270        280        290        300
GEWDLAQKAL DDIIYRAQLE LYPEPLLVAN AIKASLPHGP MKSNKEGTRC 
       310        320        330        340        350
IQVEITPTSS RISRNAVTSM SIRGHRWKRH GNTELTGQEE LMEISEVDEG 
       360        370        380        390        400
FYSRAASSTS QSGLSNSSHN CSNKPSIGKN HRRSGGSKTG GKEKETTGES 
       410        420        430        440        450
CKDHFARKQT QRAQSENLEL LSLKRLTLTT SQSLPKPSSH GLAKTAATVF 
       460        470        480        490        500
SKSFEQVSGV TVPHNPSSAV GCGAGTDANR FSACSLQEEK LIYVSERTEL 
       510        520 
PMKHQSGQQR PPSISITLST D
Length:521
Mass (Da):57,625
Last modified:October 11, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i722D7A9CFD5EC060
GO
Isoform 2 (identifier: Q9BYI3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-341: Missing.

Show »
Length:180
Mass (Da):19,260
Checksum:i0BC46A565DE030A3
GO
Isoform 3 (identifier: Q9BYI3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     331-419: GNTELTGQEE...TQRAQSENLE → EQPDNNNDAT...GINSPGRVQF
     420-521: Missing.

Show »
Length:419
Mass (Da):46,920
Checksum:i9234130AF975A821
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B8ZZA2B8ZZA2_HUMAN
Hyccin
FAM126A
114Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0W7H7C0W7_HUMAN
Hyccin
FAM126A
471Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti160V → A in BAB39849 (PubMed:10910037).Curated1
Sequence conflicti194Y → C in BAB39849 (PubMed:10910037).Curated1
Sequence conflicti474A → V in CAE45864 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03064753L → P in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 PublicationsCorresponds to variant dbSNP:rs72549407EnsemblClinVar.1
Natural variantiVAR_07510057C → R in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 Publications1
Natural variantiVAR_079751217R → Q1 PublicationCorresponds to variant dbSNP:rs192409840EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0231261 – 341Missing in isoform 2. 1 PublicationAdd BLAST341
Alternative sequenceiVSP_058128331 – 419GNTEL…SENLE → EQPDNNNDATELGILVIPEI SVTNVAGERTGNGEKGRTLG EIDAQHIQGVQETATDPRTE SKGLPEIRRQKSVRKMMEDG INSPGRVQF in isoform 3. Add BLAST89
Alternative sequenceiVSP_058129420 – 521Missing in isoform 3. Add BLAST102

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB030241 mRNA Translation: BAB39849.1
KU178808 mRNA Translation: ALQ34266.1
KU178809 mRNA Translation: ALQ34267.1
AK056319 mRNA Translation: BAB71148.1
AK054887 mRNA Translation: BAB70823.1
AC005682 Genomic DNA Translation: AAS01991.1
AC006039 Genomic DNA Translation: AAS07519.1
CH236948 Genomic DNA Translation: EAL24262.1
CH471073 Genomic DNA Translation: EAW93767.1
CH471073 Genomic DNA Translation: EAW93768.1
BC018710 mRNA Translation: AAH18710.1
BX640757 mRNA Translation: CAE45864.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5377.1 [Q9BYI3-1]
CCDS87486.1 [Q9BYI3-3]

NCBI Reference Sequences

More...RefSeqi		NP_115970.2, NM_032581.3 [Q9BYI3-1]
XP_005249951.1, XM_005249894.3
XP_011513891.1, XM_011515589.2 [Q9BYI3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000409923; ENSP00000386246; ENSG00000122591 [Q9BYI3-3]
ENST00000432176; ENSP00000403396; ENSG00000122591 [Q9BYI3-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84668

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84668

UCSC genome browser

More...UCSCi		uc003svm.5, human [Q9BYI3-1]
uc064byk.1, human

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB030241 mRNA Translation: BAB39849.1
KU178808 mRNA Translation: ALQ34266.1
KU178809 mRNA Translation: ALQ34267.1
AK056319 mRNA Translation: BAB71148.1
AK054887 mRNA Translation: BAB70823.1
AC005682 Genomic DNA Translation: AAS01991.1
AC006039 Genomic DNA Translation: AAS07519.1
CH236948 Genomic DNA Translation: EAL24262.1
CH471073 Genomic DNA Translation: EAW93767.1
CH471073 Genomic DNA Translation: EAW93768.1
BC018710 mRNA Translation: AAH18710.1
BX640757 mRNA Translation: CAE45864.1
CCDSiCCDS5377.1 [Q9BYI3-1]
CCDS87486.1 [Q9BYI3-3]
RefSeqiNP_115970.2, NM_032581.3 [Q9BYI3-1]
XP_005249951.1, XM_005249894.3
XP_011513891.1, XM_011515589.2 [Q9BYI3-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DSEX-ray2.90B/D2-308[»]
6BQ1electron microscopy3.60C/G2-289[»]
SMRiQ9BYI3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi124188, 19 interactors
CORUMiQ9BYI3
IntActiQ9BYI3, 14 interactors
STRINGi9606.ENSP00000403396

PTM databases

iPTMnetiQ9BYI3
PhosphoSitePlusiQ9BYI3

Polymorphism and mutation databases

BioMutaiFAM126A
DMDMi77416421

Proteomic databases

EPDiQ9BYI3
jPOSTiQ9BYI3
MassIVEiQ9BYI3
MaxQBiQ9BYI3
PaxDbiQ9BYI3
PeptideAtlasiQ9BYI3
PRIDEiQ9BYI3
ProteomicsDBi7387
79652 [Q9BYI3-1]
79653 [Q9BYI3-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		53361, 62 antibodies

The DNASU plasmid repository

More...DNASUi		84668

Genome annotation databases

EnsembliENST00000409923; ENSP00000386246; ENSG00000122591 [Q9BYI3-3]
ENST00000432176; ENSP00000403396; ENSG00000122591 [Q9BYI3-1]
GeneIDi84668
KEGGihsa:84668
UCSCiuc003svm.5, human [Q9BYI3-1]
uc064byk.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84668
DisGeNETi84668
EuPathDBiHostDB:ENSG00000122591.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		FAM126A
GeneReviewsiFAM126A
HGNCiHGNC:24587, FAM126A
HPAiENSG00000122591, Low tissue specificity
MalaCardsiFAM126A
MIMi610531, gene
610532, phenotype
neXtProtiNX_Q9BYI3
OpenTargetsiENSG00000122591
Orphaneti85163, Hypomyelination-congenital cataract syndrome
PharmGKBiPA162385852

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4688, Eukaryota
GeneTreeiENSGT00390000011295
HOGENOMiCLU_027457_3_0_1
InParanoidiQ9BYI3
KOiK21844
OMAiNRATYEM
OrthoDBi673408at2759
PhylomeDBiQ9BYI3
TreeFamiTF317153

Enzyme and pathway databases

PathwayCommonsiQ9BYI3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84668, 6 hits in 883 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		FAM126A, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		84668
PharosiQ9BYI3, Tbio

Protein Ontology

More...PROi		PR:Q9BYI3
RNActiQ9BYI3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000122591, Expressed in gastrocnemius and 214 other tissues
ExpressionAtlasiQ9BYI3, baseline and differential
GenevisibleiQ9BYI3, HS

Family and domain databases

InterProiView protein in InterPro
IPR018619, Hyccin
PANTHERiPTHR31220, PTHR31220, 1 hit
PfamiView protein in Pfam
PF09790, Hyccin, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHYCCI_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BYI3
Secondary accession number(s): A0A024RA06
, A4D145, B8ZZJ1, Q6N010, Q75MR4, Q7LDZ4, Q96MX1, Q96NQ6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: October 11, 2005
Last modified: October 7, 2020
This is version 135 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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