Q9BYI3 (HYCCI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Hyccin

Alternative name(s):
Down-regulated by CTNNB1 protein A
Protein FAM126A

Gene names

Name:	FAM126A
Synonyms:	DRCTNNB1A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	521 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination of the central and peripheral nervous system. Ref.1 Ref.10
Subcellular location	Cytoplasm. Membrane. Note: According to Ref.1, it is mainly cytoplasmic while according to Ref.10, it is a membrane protein. Ref.1 Ref.10
Tissue specificity	Widely expressed. Highest levels in heart, brain, placenta, spleen and testis. Ref.1
Induction	Down-regulated by beta-catenin. Ref.1
Involvement in disease	Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10
Sequence similarities	Belongs to the FAM126 family.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Alternative splicing
Disease	Cataract Disease mutation Leukodystrophy
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA plasma membrane Inferred from direct assay. Source: HPA
Molecular_function	signal transducer activity Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BYI3-1)

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.

Isoform 2 (identifier: Q9BYI3-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 521	521	Hyccin		PRO_0000080005
Amino acid modifications
	Modified residue	453	1	Phosphoserine Ref.8
Natural variations
	Alternative sequence	1 – 341	341	Missing in isoform 2.		VSP_023126
	Natural variant	53	1	L → P in HLD5. Ref.10		VAR_030647
Experimental info
	Sequence conflict	160	1	V → A in BAB39849. Ref.1
	Sequence conflict	194	1	Y → C in BAB39849. Ref.1
	Sequence conflict	474	1	A → V in CAE45864. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 11, 2005. Version 2. Checksum: 722D7A9CFD5EC060	FASTA	521	57,625
	10 20 30 40 50 60 MFTSEKGVVE EWLSEFKTLP ETSLPNYATN LKDKSSLVSS LYKVIQEPQS ELLEPVCHQL 70 80 90 100 110 120 FEFYRSGEEQ LLQFTLQFLP ELIWCYLAVS ASRNVHSSGC IEALLLGVYN LEIVDKQGHT 130 140 150 160 170 180 KVLSFTIPSL SKPSVYHEPS SIGSMALTES ALSQHGLSKV VYSGPHPQRE MLTAQNRFEV 190 200 210 220 230 240 LTFLLLCYNA ALTYMPSVSL QSLCQICSRI CVCGYPRQHV RKYKGISSRI PVSSGFMVQM 250 260 270 280 290 300 LTGIYFAFYN GEWDLAQKAL DDIIYRAQLE LYPEPLLVAN AIKASLPHGP MKSNKEGTRC 310 320 330 340 350 360 IQVEITPTSS RISRNAVTSM SIRGHRWKRH GNTELTGQEE LMEISEVDEG FYSRAASSTS 370 380 390 400 410 420 QSGLSNSSHN CSNKPSIGKN HRRSGGSKTG GKEKETTGES CKDHFARKQT QRAQSENLEL 430 440 450 460 470 480 LSLKRLTLTT SQSLPKPSSH GLAKTAATVF SKSFEQVSGV TVPHNPSSAV GCGAGTDANR 490 500 510 520 FSACSLQEEK LIYVSERTEL PMKHQSGQQR PPSISITLST D
	Isoform 2 [UniParc]. Checksum: 0BC46A565DE030A3	FASTA	180	19,260
	10 20 30 40 50 60 MEISEVDEGF YSRAASSTSQ SGLSNSSHNC SNKPSIGKNH RRSGGSKTGG KEKETTGESC 70 80 90 100 110 120 KDHFARKQTQ RAQSENLELL SLKRLTLTTS QSLPKPSSHG LAKTAATVFS KSFEQVSGVT 130 140 150 160 170 180 VPHNPSSAVG CGAGTDANRF SACSLQEEKL IYVSERTELP MKHQSGQQRP PSISITLSTD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin." Kawasoe T., Furukawa Y., Daigo Y., Nishiwaki T., Ishiguro H., Fujita M., Satoh S., Miwa N., Nagasawa Y., Miyoshi Y., Ogawa M., Nakamura Y. Cancer Res. 60:3354-3358(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), POSSIBLE FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION. Tissue: Fetal brain.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Teratocarcinoma.
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis.
[4]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta.
[8]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-453, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Hypomyelination and congenital cataract: broadening the clinical phenotype." Biancheri R., Zara F., Rossi A., Mathot M., Nassogne M.C., Yalcinkaya C., Erturk O., Tuysuz B., Di Rocco M., Gazzerro E., Bugiani M., van Spaendonk R., Sistermans E.A., Minetti C., van der Knaap M.S., Wolf N.I. Arch. Neurol. 68:1191-1194(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN HLD5.
[10]	"Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract." Zara F., Biancheri R., Bruno C., Bordo L., Assereto S., Gazzerro E., Sotgia F., Wang X.B., Gianotti S., Stringara S., Pedemonte M., Uziel G., Rossi A., Schenone A., Tortori-Donati P., van der Knaap M.S., Lisanti M.P., Minetti C. Nat. Genet. 38:1111-1113(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD5 PRO-53, FUNCTION, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB030241 mRNA. Translation: BAB39849.1. 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. BC018710 mRNA. Translation: AAH18710.1. BX640757 mRNA. Translation: CAE45864.1.
IPI	IPI00102291. IPI00828124.
RefSeq	NP_115970.2. NM_032581.3.
UniGene	Hs.85603.
3D structure databases
ProteinModelPortal	Q9BYI3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000403396.
PTM databases
PhosphoSite	Q9BYI3.
Polymorphism databases
DMDM	77416421.
Proteomic databases
PaxDb	Q9BYI3.
PRIDE	Q9BYI3.
Protocols and materials databases
DNASU	84668.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000432176; ENSP00000403396; ENSG00000122591.
GeneID	84668.
KEGG	hsa:84668.
UCSC	uc003svm.4. human.
Organism-specific databases
CTD	84668.
GeneCards	GC07M022980.
HGNC	HGNC:24587. FAM126A.
HPA	HPA042873.
MIM	610531. gene. 610532. phenotype.
neXtProt	NX_Q9BYI3.
Orphanet	85163. Hypomyelination - congenital cataract.
PharmGKB	PA162385852.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG301487.
HOGENOM	HOG000252938.
HOVERGEN	HBG057270.
InParanoid	Q9BYI3.
OMA	HGNTDLT.
OrthoDB	EOG47D9FZ.
PhylomeDB	Q9BYI3.
Gene expression databases
ArrayExpress	Q9BYI3.
Bgee	Q9BYI3.
CleanEx	HS_FAM126A.
Genevestigator	Q9BYI3.
GermOnline	ENSG00000122591. Homo sapiens.
Family and domain databases
InterPro	IPR018619. Hyccin. [Graphical view]
Pfam	PF09790. Hyccin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	FAM126A. human.
GenomeRNAi	84668.
NextBio	74665.
SOURCE	Search...

Entry information

Entry name

HYCCI_HUMAN

Accession

Primary (citable) accession number: Q9BYI3
Secondary accession number(s): A4D145 , Q6N010, Q75MR4, Q7LDZ4, Q96MX1, Q96NQ6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 11, 2005
Last sequence update:	October 11, 2005
Last modified:	May 1, 2013
This is version 77 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.