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 Publications

GO - Biological processⁱ

myelination Source: UniProtKB
phosphatidylinositol phosphorylation
Source: UniProtKB
Inferred from direct assayⁱ
- 26571211
protein localization to plasma membrane
Source: UniProtKB
Inferred from direct assayⁱ
- 26571211

View the complete GO annotation on QuickGO ...

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 7

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000122591.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:24587 FAM126A
MIMⁱ	610531 gene
neXtProtⁱ	NX_Q9BYI3

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.

Keywords - Diseaseⁱ

Cataract, Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNET More...DisGeNETⁱ	84668
GeneReviewsⁱ	FAM126A
MalaCards human disease database More...MalaCardsⁱ	FAM126A
MIMⁱ	610532 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000122591
Orphanetⁱ	85163 Hypomyelination - congenital cataract
PharmGKBⁱ	PA162385852

Polymorphism and mutation 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	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

Phosphoprotein

Proteomic databases

EPDⁱ	Q9BYI3
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9BYI3
PaxDbⁱ	Q9BYI3
PeptideAtlas More...PeptideAtlasⁱ	Q9BYI3
PRIDEⁱ	Q9BYI3
ProteomicsDBⁱ	79652 79653 [Q9BYI3-2]

PTM databases

iPTMnetⁱ	Q9BYI3
PhosphoSitePlusⁱ	Q9BYI3

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

Bgeeⁱ	ENSG00000122591 Expressed in 198 organ(s), highest expression level in gastrocnemius
CleanExⁱ	HS_FAM126A
ExpressionAtlasⁱ	Q9BYI3 baseline and differential
Genevisibleⁱ	Q9BYI3 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA042873

HPAⁱ

HPA042873

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

With	Entry	#Exp.	IntAct
CCNDBP1	O95273	3	EBI-11065686,EBI-748961
FHL3	Q13643	3	EBI-11065686,EBI-741101
MEOX2	Q6FHY5	3	EBI-11065686,EBI-16439278
TRIM27	P14373	6	EBI-11065686,EBI-719493

Protein-protein interaction databases

BioGridⁱ	124188, 12 interactors
IntActⁱ	Q9BYI3, 7 interactors
STRINGⁱ	9606.ENSP00000403396

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	8 – 14	Combined sources	7
Turnⁱ	26 – 28	Combined sources	3
Helixⁱ	37 – 46	Combined sources	10
Helixⁱ	54 – 65	Combined sources	12
Helixⁱ	69 – 76	Combined sources	8
Helixⁱ	79 – 91	Combined sources	13
Helixⁱ	100 – 112	Combined sources	13
Beta strandⁱ	116 – 119	Combined sources	4
Beta strandⁱ	123 – 126	Combined sources	4
Helixⁱ	144 – 147	Combined sources	4
Beta strandⁱ	159 – 163	Combined sources	5
Helixⁱ	176 – 190	Combined sources	15
Helixⁱ	197 – 212	Combined sources	16
Helixⁱ	217 – 221	Combined sources	5
Helixⁱ	234 – 248	Combined sources	15
Turnⁱ	249 – 251	Combined sources	3
Helixⁱ	253 – 269	Combined sources	17
Helixⁱ	273 – 285	Combined sources	13

Show more details

3D structure databases

ProteinModelPortalⁱ	Q9BYI3
SMRⁱ	Q9BYI3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the FAM126 family.Curated

Phylogenomic databases

eggNOGⁱ	KOG4688 Eukaryota ENOG410ZXRB LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000011295
HOGENOMⁱ	HOG000252938
HOVERGENⁱ	HBG057270
InParanoidⁱ	Q9BYI3
KEGG Orthology (KO) More...KOⁱ	K21844
OMAⁱ	RWKRHGN
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G03RR
PhylomeDBⁱ	Q9BYI3
TreeFamⁱ	TF317153

Family and domain databases

InterProⁱ	View protein in InterPro IPR018619 Hyccin
PANTHERⁱ	PTHR31220 PTHR31220, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF09790 Hyccin, 1 hit

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

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

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

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

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

« Hide

        10         20         30         40         50
MEISEVDEGF YSRAASSTSQ SGLSNSSHNC SNKPSIGKNH RRSGGSKTGG 
        60         70         80         90        100
KEKETTGESC KDHFARKQTQ RAQSENLELL SLKRLTLTTS QSLPKPSSHG 
       110        120        130        140        150
LAKTAATVFS KSFEQVSGVT VPHNPSSAVG CGAGTDANRF SACSLQEEKL 
       160        170        180
IYVSERTELP MKHQSGQQRP PSISITLSTD

Note: No experimental confirmation available.

Show »

Length:180

Mass (Da):19,260

Checksum:ⁱ0BC46A565DE030A3

GO

Isoform 3 (identifier: Q9BYI3-3) [UniParc]FASTA Add to basket

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

« 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 EQPDNNNDAT ELGILVIPEI 
       360        370        380        390        400
SVTNVAGERT GNGEKGRTLG EIDAQHIQGV QETATDPRTE SKGLPEIRRQ 
       410 
KSVRKMMEDG INSPGRVQF

Show »

Length:419

Mass (Da):46,920

Checksum:ⁱ9234130AF975A821

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation
	B8ZZA2	B8ZZA2_HUMAN		Hyccin Hyccin	FAM126A	114	Annotation score:
	H7C0W7	H7C0W7_HUMAN		Hyccin Hyccin	FAM126A	471	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	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	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:rs192409840Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	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
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 [Q9BYI3-3] XP_011513891.1, XM_011515589.2 [Q9BYI3-1]
UniGeneⁱ	Hs.85603

Genome annotation databases

Ensemblⁱ	ENST00000409923; ENSP00000386246; ENSG00000122591 [Q9BYI3-3] ENST00000432176; ENSP00000403396; ENSG00000122591 [Q9BYI3-1]
GeneIDⁱ	84668
KEGGⁱ	hsa:84668
UCSC genome browser More...UCSCⁱ	uc003svm.5 human [Q9BYI3-1] uc064byk.1 human

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9BYI3	Family with sequence similarity 126 member A		GORGO		521	UniRef100_Q9BYI3
Isoform 2 of Hyccin		HUMAN		180
Q9BYI3-3	FAM126A isoform 6		PANTR		419	UniRef100_A0A2I3RFN2
FAM126A isoform 6		PONAB		419

Protein	Similar proteins		Species	Score	Length	Source
Q9BYI3	Hyccin		MOUSE		521	UniRef90_Q9BYI3
Family with sequence similarity 126 member A		GORGO		521
Isoform 2 of Hyccin		HUMAN		180
hyccin		ODORO		522
Family with sequence similarity 126 member A		MACFA		521
+101
Q9BYI3-3	Family with sequence similarity 126 member A		MUSPF		419	UniRef90_M3YQ72
Hyccin (Fragment)		HUMAN		471
FAM126A isoform 1 (Fragment)		PONAB		470
FAM126A isoform 1 (Fragment)		PANTR		470
hyccin isoform X2		PHYCD		419
+73

Protein	Similar proteins		Species	Score	Length	Source
Q9BYI3	Hyccin		MOUSE		521	UniRef50_Q9BYI3
Hyccin		DANRE		518
Family with sequence similarity 126 member A		GORGO		521
Isoform 2 of Hyccin		HUMAN		180
hyccin		ODORO		522
+265
Q9BYI3-3	Family with sequence similarity 126 member A		MUSPF		419	UniRef50_M3YQ72
Hyccin (Fragment)		HUMAN		471
FAM126A isoform 1 (Fragment)		PONAB		470
FAM126A isoform 1 (Fragment)		PANTR		470
Family with sequence similarity 126 member A		CALJA		419
+128

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:	September 12, 2018
	This is version 122 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, Complete proteome, Reference proteome

UniProtKB

UniParc

Help

UniRef

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Annotation systems

Supporting data

UniProtKB - Q9BYI3 (HYCCI_HUMAN)

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Hyccin

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<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

<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

<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

Organism-specific databases

<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

Plasma membrane

Cytosol

Cytosol

Plasma Membrane

Other locations

<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

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

Protein-protein interaction databases

<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

3D structure databases

<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

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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 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

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Computationally mapped potential isoform sequencesⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ