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Protein

Hyccin

Gene

Fam126a

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

  • establishment of protein localization to plasma membrane Source: UniProtKB
  • myelination Source: UniProtKB
  • phosphatidylinositol phosphorylation Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Hyccin
Alternative name(s):
Down-regulated by CTNNB1 protein A
Protein FAM126A
Gene namesi
Name:Fam126a
Synonyms:Drctnnb1a
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 5

Organism-specific databases

MGIiMGI:2149839. Fam126a.

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

Disruption phenotypei

No visible phenotype. Lysates from total brain and optic nerve (a pure white matter tract) display a selective decrease of Ttc7a and Efr3a protein levels.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000800061 – 521HyccinAdd BLAST521

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei306PhosphothreonineBy similarity1
Modified residuei321PhosphoserineCombined sources1
Modified residuei415PhosphoserineCombined sources1
Modified residuei422PhosphoserineBy similarity1
Modified residuei433PhosphoserineBy similarity1
Modified residuei453PhosphoserineCombined sources1
Modified residuei465PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6P9N1.
PaxDbiQ6P9N1.
PeptideAtlasiQ6P9N1.
PRIDEiQ6P9N1.

PTM databases

iPTMnetiQ6P9N1.
PhosphoSitePlusiQ6P9N1.

Expressioni

Tissue specificityi

Predominantly expressed in the central nervous system, where it is found in neurons but not in myelinating cells. Lower abundance is observed in peripheral neurons, where it is detectable only at early postnatal ages (PubMed:22461884). Expressed in both oligodendrocytes and neurons (PubMed:26571211).2 Publications

Inductioni

Down-regulated by beta-catenin.1 Publication

Gene expression databases

BgeeiENSMUSG00000028995.
ExpressionAtlasiQ6P9N1. baseline and differential.

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). Interacts with TTC7 (TTC7A or TTC7B), interaction is direct.By similarity

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000030849.

Structurei

3D structure databases

SMRiQ6P9N1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM126 family.Curated

Phylogenomic databases

eggNOGiKOG4688. Eukaryota.
ENOG410ZXRB. LUCA.
GeneTreeiENSGT00390000011295.
HOGENOMiHOG000252938.
HOVERGENiHBG057270.
InParanoidiQ6P9N1.
KOiK21844.
OMAiNRATYEM.
TreeFamiTF317153.

Family and domain databases

InterProiView protein in InterPro
IPR018619. Hyccin.
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

Isoform 1 (identifier: Q6P9N1-1) [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
MFTSEIGVVE EWLSEFKTLP ETSLPNYATN LKDKSSLVTS LYKVIQEPQS
60 70 80 90 100
ELLEPVCHQL FEFYRSGEEQ LLRFTLQFLP ELMWCYLAVS ASRDVHSSGC
110 120 130 140 150
IEALLLGVYN LEIVDKHGHS KVLSFTIPSL SKPSVYHEPS SIGSMALTES
160 170 180 190 200
ALSQHGLSKV VYSGPHPQRE MLTAQNRFEV LTFLLLCYNA ALTYMPSVSL
210 220 230 240 250
QSLCQICSRI CVCGYPRQHV RKYRGVSSRI PISSGFMVQM LTGVYFAIYN
260 270 280 290 300
GEWDLAQKAL DDIIYRAQLE LYPEPLLVAN AIKASLPHGA MKSSKEGTRC
310 320 330 340 350
IQVEITPTSS RISRNAVTSM SIRGHRWKRH GDTELTGQEE LMDITEVDEG
360 370 380 390 400
FYSRAASSTS QSGLSNSSHN CSNKTSVGKN QRRSGGSKAG AKERETAGES
410 420 430 440 450
CRDHFARKQT QRAQSENLEL LSLKRLTLTS SQSLPKPSSQ GLAKTAATVF
460 470 480 490 500
SKSFEQVSGA PVPRSPSPAI GCVAGADANR FSACSLQEEK LIYVSERTEL
510 520
AVKCQAGQQG PPSISVTLSA E
Length:521
Mass (Da):57,321
Last modified:February 17, 2016 - v3
Checksum:iFD4FF7C29DD1B1E2
GO
Isoform 2 (identifier: Q6P9N1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     332-370: DTELTGQEEL...QSGLSNSSHN → GSKGSRQSRP...HNVQKSVSKI
     371-521: Missing.

Show »
Length:370
Mass (Da):41,687
Checksum:i194085F10347D151
GO
Isoform 3 (identifier: Q6P9N1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     331-420: GDTELTGQEE...QRAQSENLEL → EQPESSCAAA...GMSTAGRVQF
     421-521: Missing.

Show »
Length:420
Mass (Da):46,798
Checksum:iD46C46C3C70EDDE1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti39T → S in BAB39850 (PubMed:10910037).1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_058130331 – 420GDTEL…ENLEL → EQPESSCAAAAEAGILVIPE ISVTHVSGERTGNGEKGRAL GDIDAQHMQGVQETATDPRS ESRGLPELRRQKSVRKMMED GMSTAGRVQF in isoform 3. Add BLAST90
Alternative sequenceiVSP_058131332 – 370DTELT…NSSHN → GSKGSRQSRPTIDSDTITCW NLQSRFKYDHNVQKSVSKI in isoform 2. Add BLAST39
Alternative sequenceiVSP_058132371 – 521Missing in isoform 2. Add BLAST151
Alternative sequenceiVSP_058133421 – 521Missing in isoform 3. Add BLAST101

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB030242 mRNA. Translation: BAB39850.1.
AK161265 mRNA. Translation: BAE36278.1.
AC115786 Genomic DNA. No translation available.
AC117663 Genomic DNA. No translation available.
BC056381 mRNA. Translation: AAH56381.1.
BC060692 mRNA. Translation: AAH60692.1.
CCDSiCCDS19113.1. [Q6P9N1-1]
CCDS80221.1. [Q6P9N1-2]
RefSeqiNP_001297400.1. NM_001310471.1. [Q6P9N1-2]
NP_444320.2. NM_053090.3. [Q6P9N1-1]
XP_006535885.1. XM_006535822.2. [Q6P9N1-3]
XP_011248100.1. XM_011249798.2. [Q6P9N1-1]
XP_017176677.1. XM_017321188.1. [Q6P9N1-2]
UniGeneiMm.304976.
Mm.486278.

Genome annotation databases

EnsembliENSMUST00000030849; ENSMUSP00000030849; ENSMUSG00000028995. [Q6P9N1-1]
ENSMUST00000101513; ENSMUSP00000099050; ENSMUSG00000028995. [Q6P9N1-2]
ENSMUST00000115109; ENSMUSP00000110761; ENSMUSG00000028995. [Q6P9N1-3]
GeneIDi84652.
KEGGimmu:84652.
UCSCiuc008wqu.1. mouse.
uc008wqv.1. mouse. [Q6P9N1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiHYCCI_MOUSE
AccessioniPrimary (citable) accession number: Q6P9N1
Secondary accession number(s): D3Z481, Q3TTP7, Q99NC4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: February 17, 2016
Last modified: September 27, 2017
This is version 99 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families