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Protein

Hyccin

Gene

FAM126A

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

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

EuPathDBiHostDB:ENSG00000122591.11
HGNCiHGNC:24587 FAM126A
MIMi610531 gene
neXtProtiNX_Q9BYI3

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

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.
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 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

DisGeNETi84668
GeneReviewsiFAM126A
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
ProteomicsDBi79652
79653 [Q9BYI3-2]

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 Expressed in 198 organ(s), highest expression level in gastrocnemius
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

Binary interactionsi

Protein-protein interaction databases

BioGridi124188, 12 interactors
IntActiQ9BYI3, 7 interactors
STRINGi9606.ENSP00000403396

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliQ9BYI3
SMRiQ9BYI3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM126 family.Curated

Phylogenomic databases

eggNOGiKOG4688 Eukaryota
ENOG410ZXRB LUCA
GeneTreeiENSGT00390000011295
HOGENOMiHOG000252938
HOVERGENiHBG057270
InParanoidiQ9BYI3
KOiK21844
OMAiRWKRHGN
OrthoDBiEOG091G03RR
PhylomeDBiQ9BYI3
TreeFamiTF317153

Family and domain databases

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

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.iShow all

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

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:
H7C0W7H7C0W7_HUMAN
Hyccin
FAM126A
471Annotation score:

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 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:rs192409840Ensembl.1

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]
CCDS87486.1 [Q9BYI3-3]
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

Similar proteinsi

Entry informationi

Entry nameiHYCCI_HUMAN
AccessioniPrimary (citable) accession number: Q9BYI3
Secondary accession number(s): A0A024RA06
, A4D145, B8ZZJ1, Q6N010, Q75MR4, Q7LDZ4, Q96MX1, Q96NQ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: October 11, 2005
Last modified: September 12, 2018
This is version 122 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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