UniProtKB - Q9BYI3 (HYCCI_HUMAN)
Hyccin
FAM126A
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 PublicationsGO - Biological processi
- myelination Source: UniProtKB
- phosphatidylinositol phosphate biosynthetic process Source: UniProtKB
- protein localization to plasma membrane Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9BYI3 |
SignaLinki | Q9BYI3 |
Names & Taxonomyi
Protein namesi | Recommended name: Hyccin1 PublicationAlternative name(s): Down-regulated by CTNNB1 protein A1 Publication Protein FAM126ACurated |
Gene namesi | Name:FAM126A Synonyms:DRCTNNB1A1 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24587, FAM126A |
MIMi | 610531, gene |
neXtProti | NX_Q9BYI3 |
VEuPathDBi | HostDB:ENSG00000122591 |
Subcellular locationi
Plasma membrane
- Cell membrane 2 Publications
Cytoplasm and Cytosol
- cytosol 2 Publications
Note: Localizes to the cytosol and is recruited to the plasma membrane following interaction with other components of the phosphatidylinositol 4-kinase (PI4K) complex.1 Publication
Cytosol
- cytosol Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- neuron projection Source: Ensembl
Keywords - Cellular componenti
Cell membrane, Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Leukodystrophy, hypomyelinating, 5 (HLD5)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030647 | 53 | L → P in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 PublicationsCorresponds to variant dbSNP:rs72549407EnsemblClinVar. | 1 | |
Natural variantiVAR_075100 | 57 | C → R in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 Publications | 1 |
Keywords - Diseasei
Cataract, Disease variant, LeukodystrophyOrganism-specific databases
DisGeNETi | 84668 |
GeneReviewsi | FAM126A |
MalaCardsi | FAM126A |
MIMi | 610532, phenotype |
OpenTargetsi | ENSG00000122591 |
Orphaneti | 85163, Hypomyelination-congenital cataract syndrome |
PharmGKBi | PA162385852 |
Miscellaneous databases
Pharosi | Q9BYI3, Tbio |
Genetic variation databases
BioMutai | FAM126A |
DMDMi | 77416421 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000080005 | 1 – 521 | HyccinAdd BLAST | 521 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 306 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 321 | PhosphoserineBy similarity | 1 | |
Modified residuei | 415 | PhosphoserineCombined sources | 1 | |
Modified residuei | 422 | PhosphoserineCombined sources | 1 | |
Modified residuei | 433 | PhosphoserineCombined sources | 1 | |
Modified residuei | 453 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9BYI3 |
jPOSTi | Q9BYI3 |
MassIVEi | Q9BYI3 |
MaxQBi | Q9BYI3 |
PaxDbi | Q9BYI3 |
PeptideAtlasi | Q9BYI3 |
PRIDEi | Q9BYI3 |
ProteomicsDBi | 7387 79652 [Q9BYI3-1] 79653 [Q9BYI3-2] |
PTM databases
iPTMneti | Q9BYI3 |
PhosphoSitePlusi | Q9BYI3 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000122591, Expressed in gastrocnemius and 215 other tissues |
ExpressionAtlasi | Q9BYI3, baseline and differential |
Genevisiblei | Q9BYI3, HS |
Organism-specific databases
HPAi | ENSG00000122591, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Q9BYI3
Protein-protein interaction databases
BioGRIDi | 124188, 36 interactors |
CORUMi | Q9BYI3 |
IntActi | Q9BYI3, 18 interactors |
MINTi | Q9BYI3 |
STRINGi | 9606.ENSP00000403396 |
Miscellaneous databases
RNActi | Q9BYI3, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9BYI3 |
SMRi | Q9BYI3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 355 – 413 | DisorderedSequence analysisAdd BLAST | 59 | |
Regioni | 501 – 521 | DisorderedSequence analysisAdd BLAST | 21 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 355 – 383 | Polar residuesSequence analysisAdd BLAST | 29 | |
Compositional biasi | 386 – 410 | Basic and acidic residuesSequence analysisAdd BLAST | 25 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG4688, Eukaryota |
GeneTreei | ENSGT00390000011295 |
HOGENOMi | CLU_027457_3_0_1 |
InParanoidi | Q9BYI3 |
OMAi | TAGESCK |
OrthoDBi | 673408at2759 |
PhylomeDBi | Q9BYI3 |
TreeFami | TF317153 |
Family and domain databases
InterProi | View protein in InterPro IPR018619, Hyccin |
PANTHERi | PTHR31220, PTHR31220, 1 hit |
Pfami | View protein in Pfam PF09790, Hyccin, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A7P0T8K2 | A0A7P0T8K2_HUMAN | Hyccin | FAM126A | 503 | Annotation score: | ||
A0A7P0T943 | A0A7P0T943_HUMAN | Hyccin | FAM126A | 377 | Annotation score: | ||
B8ZZA2 | B8ZZA2_HUMAN | Hyccin | FAM126A | 114 | Annotation score: | ||
H7C0W7 | H7C0W7_HUMAN | Hyccin | FAM126A | 275 | Annotation score: | ||
A0A7P0TAP6 | A0A7P0TAP6_HUMAN | Hyccin | FAM126A | 213 | Annotation score: | ||
A0A7P0Z4L0 | A0A7P0Z4L0_HUMAN | Hyccin | FAM126A | 293 | Annotation score: | ||
A0A7P0T8Q9 | A0A7P0T8Q9_HUMAN | Hyccin | FAM126A | 52 | Annotation score: | ||
A0A7P0TBJ9 | A0A7P0TBJ9_HUMAN | Hyccin | FAM126A | 81 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 160 | V → A in BAB39849 (PubMed:10910037).Curated | 1 | |
Sequence conflicti | 194 | Y → C in BAB39849 (PubMed:10910037).Curated | 1 | |
Sequence conflicti | 474 | A → V in CAE45864 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030647 | 53 | L → P in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 PublicationsCorresponds to variant dbSNP:rs72549407EnsemblClinVar. | 1 | |
Natural variantiVAR_075100 | 57 | C → R in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 Publications | 1 | |
Natural variantiVAR_079751 | 217 | R → Q1 PublicationCorresponds to variant dbSNP:rs192409840EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_023126 | 1 – 341 | Missing in isoform 2. 1 PublicationAdd BLAST | 341 | |
Alternative sequenceiVSP_058128 | 331 – 419 | GNTEL…SENLE → EQPDNNNDATELGILVIPEI SVTNVAGERTGNGEKGRTLG EIDAQHIQGVQETATDPRTE SKGLPEIRRQKSVRKMMEDG INSPGRVQF in isoform 3. Add BLAST | 89 | |
Alternative sequenceiVSP_058129 | 420 – 521 | Missing in isoform 3. Add BLAST | 102 |
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 |
CCDSi | CCDS5377.1 [Q9BYI3-1] CCDS87486.1 [Q9BYI3-3] |
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
Ensembli | ENST00000409923.5; ENSP00000386246.1; ENSG00000122591.13 [Q9BYI3-3] ENST00000432176.7; ENSP00000403396.2; ENSG00000122591.13 |
GeneIDi | 84668 |
KEGGi | hsa:84668 |
MANE-Selecti | ENST00000432176.7; ENSP00000403396.2; NM_032581.4; NP_115970.2 |
UCSCi | uc003svm.5, human [Q9BYI3-1] uc064byk.1, human |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS5377.1 [Q9BYI3-1] CCDS87486.1 [Q9BYI3-3] |
RefSeqi | NP_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: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5DSE | X-ray | 2.90 | B/D | 2-308 | [»] | |
6BQ1 | electron microscopy | 3.60 | C/G | 2-289 | [»] | |
AlphaFoldDBi | Q9BYI3 | |||||
SMRi | Q9BYI3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 124188, 36 interactors |
CORUMi | Q9BYI3 |
IntActi | Q9BYI3, 18 interactors |
MINTi | Q9BYI3 |
STRINGi | 9606.ENSP00000403396 |
PTM databases
iPTMneti | Q9BYI3 |
PhosphoSitePlusi | Q9BYI3 |
Genetic variation databases
BioMutai | FAM126A |
DMDMi | 77416421 |
Proteomic databases
EPDi | Q9BYI3 |
jPOSTi | Q9BYI3 |
MassIVEi | Q9BYI3 |
MaxQBi | Q9BYI3 |
PaxDbi | Q9BYI3 |
PeptideAtlasi | Q9BYI3 |
PRIDEi | Q9BYI3 |
ProteomicsDBi | 7387 79652 [Q9BYI3-1] 79653 [Q9BYI3-2] |
Protocols and materials databases
Antibodypediai | 53361, 61 antibodies from 19 providers |
DNASUi | 84668 |
Genome annotation databases
Ensembli | ENST00000409923.5; ENSP00000386246.1; ENSG00000122591.13 [Q9BYI3-3] ENST00000432176.7; ENSP00000403396.2; ENSG00000122591.13 |
GeneIDi | 84668 |
KEGGi | hsa:84668 |
MANE-Selecti | ENST00000432176.7; ENSP00000403396.2; NM_032581.4; NP_115970.2 |
UCSCi | uc003svm.5, human [Q9BYI3-1] uc064byk.1, human |
Organism-specific databases
CTDi | 84668 |
DisGeNETi | 84668 |
GeneCardsi | FAM126A |
GeneReviewsi | FAM126A |
HGNCi | HGNC:24587, FAM126A |
HPAi | ENSG00000122591, Low tissue specificity |
MalaCardsi | FAM126A |
MIMi | 610531, gene 610532, phenotype |
neXtProti | NX_Q9BYI3 |
OpenTargetsi | ENSG00000122591 |
Orphaneti | 85163, Hypomyelination-congenital cataract syndrome |
PharmGKBi | PA162385852 |
VEuPathDBi | HostDB:ENSG00000122591 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4688, Eukaryota |
GeneTreei | ENSGT00390000011295 |
HOGENOMi | CLU_027457_3_0_1 |
InParanoidi | Q9BYI3 |
OMAi | TAGESCK |
OrthoDBi | 673408at2759 |
PhylomeDBi | Q9BYI3 |
TreeFami | TF317153 |
Enzyme and pathway databases
PathwayCommonsi | Q9BYI3 |
SignaLinki | Q9BYI3 |
Miscellaneous databases
BioGRID-ORCSi | 84668, 11 hits in 1083 CRISPR screens |
ChiTaRSi | FAM126A, human |
GenomeRNAii | 84668 |
Pharosi | Q9BYI3, Tbio |
PROi | PR:Q9BYI3 |
RNActi | Q9BYI3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000122591, Expressed in gastrocnemius and 215 other tissues |
ExpressionAtlasi | Q9BYI3, baseline and differential |
Genevisiblei | Q9BYI3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR018619, Hyccin |
PANTHERi | PTHR31220, PTHR31220, 1 hit |
Pfami | View protein in Pfam PF09790, Hyccin, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | HYCCI_HUMAN | |
Accessioni | Q9BYI3Primary (citable) accession number: Q9BYI3 Secondary accession number(s): A0A024RA06 Q96NQ6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 11, 2005 |
Last sequence update: | October 11, 2005 | |
Last modified: | May 25, 2022 | |
This is version 142 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families