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Protein

Hyccin

Gene

FAM126A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Molecular functioni

  • signal transducer activity Source: UniProtKB

GO - Biological processi

  • establishment of protein localization to plasma membrane Source: UniProtKB
  • myelination Source: UniProtKB
  • phosphatidylinositol phosphorylation Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Hyccin1 Publication
Alternative name(s):
Down-regulated by CTNNB1 protein A1 Publication
Protein FAM126ACurated
Gene namesi
Name:FAM126A
Synonyms:DRCTNNB1A1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:24587. FAM126A.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: UniProtKB
  • neuron projection Source: Ensembl
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy, hypomyelinating, 5 (HLD5)3 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.
See also OMIM:610532
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 rs72549407dbSNPEnsembl.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

DisGeNETi84668.
MalaCardsiFAM126A.
MIMi610532. phenotype.
OpenTargetsiENSG00000122591.
Orphaneti85163. Hypomyelination - congenital cataract.
PharmGKBiPA162385852.

Polymorphism and mutation databases

BioMutaiFAM126A.
DMDMi77416421.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000800051 – 521HyccinAdd BLAST521

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei306PhosphothreonineCombined sources1
Modified residuei321PhosphoserineBy similarity1
Modified residuei415PhosphoserineCombined sources1
Modified residuei422PhosphoserineCombined sources1
Modified residuei433PhosphoserineCombined sources1
Modified residuei453PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BYI3.
MaxQBiQ9BYI3.
PaxDbiQ9BYI3.
PeptideAtlasiQ9BYI3.
PRIDEiQ9BYI3.

PTM databases

iPTMnetiQ9BYI3.
PhosphoSitePlusiQ9BYI3.

Expressioni

Tissue specificityi

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

Inductioni

Down-regulated by beta-catenin.1 Publication

Gene expression databases

BgeeiENSG00000122591.
CleanExiHS_FAM126A.
ExpressionAtlasiQ9BYI3. baseline and differential.
GenevisibleiQ9BYI3. HS.

Organism-specific databases

HPAiHPA042873.

Interactioni

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

Protein-protein interaction databases

BioGridi124188. 10 interactors.
IntActiQ9BYI3. 2 interactors.
STRINGi9606.ENSP00000403396.

Structurei

Secondary structure

1521
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi8 – 14Combined sources7
Turni26 – 28Combined sources3
Helixi37 – 46Combined sources10
Helixi54 – 65Combined sources12
Helixi69 – 76Combined sources8
Helixi79 – 91Combined sources13
Helixi100 – 112Combined sources13
Beta strandi116 – 119Combined sources4
Beta strandi123 – 126Combined sources4
Helixi144 – 147Combined sources4
Beta strandi159 – 163Combined sources5
Helixi176 – 190Combined sources15
Helixi197 – 212Combined sources16
Helixi217 – 221Combined sources5
Helixi234 – 248Combined sources15
Turni249 – 251Combined sources3
Helixi253 – 269Combined sources17
Helixi273 – 285Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DSEX-ray2.90B/D2-308[»]
ProteinModelPortaliQ9BYI3.
SMRiQ9BYI3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM126 family.Curated

Phylogenomic databases

eggNOGiKOG4688. Eukaryota.
ENOG410ZXRB. LUCA.
GeneTreeiENSGT00390000011295.
HOGENOMiHOG000252938.
HOVERGENiHBG057270.
InParanoidiQ9BYI3.
OMAiNCSNKTS.
OrthoDBiEOG091G03RR.
PhylomeDBiQ9BYI3.
TreeFamiTF317153.

Family and domain databases

InterProiIPR018619. Hyccin.
[Graphical view]
PfamiPF09790. Hyccin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.

Note: No experimental confirmation available.
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs72549407dbSNPEnsembl.1
Natural variantiVAR_07510057C → R in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
RefSeqiNP_115970.2. NM_032581.3. [Q9BYI3-1]
XP_005249951.1. XM_005249894.3. [Q9BYI3-3]
XP_011513891.1. XM_011515589.2. [Q9BYI3-1]
UniGeneiHs.85603.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

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]
RefSeqiNP_115970.2. NM_032581.3. [Q9BYI3-1]
XP_005249951.1. XM_005249894.3. [Q9BYI3-3]
XP_011513891.1. XM_011515589.2. [Q9BYI3-1]
UniGeneiHs.85603.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DSEX-ray2.90B/D2-308[»]
ProteinModelPortaliQ9BYI3.
SMRiQ9BYI3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124188. 10 interactors.
IntActiQ9BYI3. 2 interactors.
STRINGi9606.ENSP00000403396.

PTM databases

iPTMnetiQ9BYI3.
PhosphoSitePlusiQ9BYI3.

Polymorphism and mutation databases

BioMutaiFAM126A.
DMDMi77416421.

Proteomic databases

EPDiQ9BYI3.
MaxQBiQ9BYI3.
PaxDbiQ9BYI3.
PeptideAtlasiQ9BYI3.
PRIDEiQ9BYI3.

Protocols and materials databases

DNASUi84668.
Structural Biology KnowledgebaseSearch...

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

CTDi84668.
DisGeNETi84668.
GeneCardsiFAM126A.
GeneReviewsiFAM126A.
HGNCiHGNC:24587. FAM126A.
HPAiHPA042873.
MalaCardsiFAM126A.
MIMi610531. gene.
610532. phenotype.
neXtProtiNX_Q9BYI3.
OpenTargetsiENSG00000122591.
Orphaneti85163. Hypomyelination - congenital cataract.
PharmGKBiPA162385852.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4688. Eukaryota.
ENOG410ZXRB. LUCA.
GeneTreeiENSGT00390000011295.
HOGENOMiHOG000252938.
HOVERGENiHBG057270.
InParanoidiQ9BYI3.
OMAiNCSNKTS.
OrthoDBiEOG091G03RR.
PhylomeDBiQ9BYI3.
TreeFamiTF317153.

Miscellaneous databases

ChiTaRSiFAM126A. human.
GenomeRNAii84668.
PROiQ9BYI3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122591.
CleanExiHS_FAM126A.
ExpressionAtlasiQ9BYI3. baseline and differential.
GenevisibleiQ9BYI3. HS.

Family and domain databases

InterProiIPR018619. Hyccin.
[Graphical view]
PfamiPF09790. Hyccin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHYCCI_HUMAN
AccessioniPrimary (citable) accession number: Q9BYI3
Secondary accession number(s): A0A024RA06
, A4D145, B8ZZJ1, Q6N010, Q75MR4, Q7LDZ4, Q96MX1, Q96NQ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: October 11, 2005
Last modified: November 30, 2016
This is version 108 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.