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Q9BYI3

- HYCCI_HUMAN

UniProt

Q9BYI3 - HYCCI_HUMAN

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Protein
Hyccin
Gene
FAM126A, DRCTNNB1A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  1. signal transducer activity Source: UniProtKB

GO - Biological processi

  1. signal transduction Source: GOC
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Hyccin
Alternative name(s):
Down-regulated by CTNNB1 protein A
Protein FAM126A
Gene namesi
Name:FAM126A
Synonyms:DRCTNNB1A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:24587. FAM126A.

Subcellular locationi

Cytoplasm. Membrane
Note: According to 1 Publication, it is mainly cytoplasmic while according to 1 Publication, it is a membrane protein.2 Publications

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531L → P in HLD5. 1 Publication
VAR_030647

Keywords - Diseasei

Cataract, Disease mutation, Leukodystrophy

Organism-specific databases

MIMi610532. phenotype.
Orphaneti85163. Hypomyelination - congenital cataract.
PharmGKBiPA162385852.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 521521Hyccin
PRO_0000080005Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei453 – 4531Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9BYI3.
PaxDbiQ9BYI3.
PRIDEiQ9BYI3.

PTM databases

PhosphoSiteiQ9BYI3.

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

ArrayExpressiQ9BYI3.
BgeeiQ9BYI3.
CleanExiHS_FAM126A.
GenevestigatoriQ9BYI3.

Organism-specific databases

HPAiHPA042873.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000403396.

Structurei

3D structure databases

ProteinModelPortaliQ9BYI3.

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM126 family.

Phylogenomic databases

eggNOGiNOG301487.
HOGENOMiHOG000252938.
HOVERGENiHBG057270.
InParanoidiQ9BYI3.
OMAiNCSNKTS.
OrthoDBiEOG751NF5.
PhylomeDBiQ9BYI3.
TreeFamiTF317153.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MFTSEKGVVE EWLSEFKTLP ETSLPNYATN LKDKSSLVSS LYKVIQEPQS    50
ELLEPVCHQL FEFYRSGEEQ LLQFTLQFLP ELIWCYLAVS ASRNVHSSGC 100
IEALLLGVYN LEIVDKQGHT KVLSFTIPSL SKPSVYHEPS SIGSMALTES 150
ALSQHGLSKV VYSGPHPQRE MLTAQNRFEV LTFLLLCYNA ALTYMPSVSL 200
QSLCQICSRI CVCGYPRQHV RKYKGISSRI PVSSGFMVQM LTGIYFAFYN 250
GEWDLAQKAL DDIIYRAQLE LYPEPLLVAN AIKASLPHGP MKSNKEGTRC 300
IQVEITPTSS RISRNAVTSM SIRGHRWKRH GNTELTGQEE LMEISEVDEG 350
FYSRAASSTS QSGLSNSSHN CSNKPSIGKN HRRSGGSKTG GKEKETTGES 400
CKDHFARKQT QRAQSENLEL LSLKRLTLTT SQSLPKPSSH GLAKTAATVF 450
SKSFEQVSGV TVPHNPSSAV GCGAGTDANR FSACSLQEEK LIYVSERTEL 500
PMKHQSGQQR PPSISITLST D 521
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531L → P in HLD5. 1 Publication
VAR_030647

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 341341Missing in isoform 2.
VSP_023126Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti160 – 1601V → A in BAB39849. 1 Publication
Sequence conflicti194 – 1941Y → C in BAB39849. 1 Publication
Sequence conflicti474 – 4741A → V in CAE45864. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5377.1. [Q9BYI3-1]
RefSeqiNP_115970.2. NM_032581.3. [Q9BYI3-1]
UniGeneiHs.85603.

Genome annotation databases

EnsembliENST00000432176; ENSP00000403396; ENSG00000122591. [Q9BYI3-1]
GeneIDi84668.
KEGGihsa:84668.
UCSCiuc003svm.4. human. [Q9BYI3-1]

Polymorphism databases

DMDMi77416421.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS5377.1. [Q9BYI3-1 ]
RefSeqi NP_115970.2. NM_032581.3. [Q9BYI3-1 ]
UniGenei Hs.85603.

3D structure databases

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

Protein-protein interaction databases

STRINGi 9606.ENSP00000403396.

PTM databases

PhosphoSitei Q9BYI3.

Polymorphism databases

DMDMi 77416421.

Proteomic databases

MaxQBi Q9BYI3.
PaxDbi Q9BYI3.
PRIDEi Q9BYI3.

Protocols and materials databases

DNASUi 84668.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000432176 ; ENSP00000403396 ; ENSG00000122591 . [Q9BYI3-1 ]
GeneIDi 84668.
KEGGi hsa:84668.
UCSCi uc003svm.4. human. [Q9BYI3-1 ]

Organism-specific databases

CTDi 84668.
GeneCardsi GC07M022980.
GeneReviewsi FAM126A.
HGNCi HGNC:24587. FAM126A.
HPAi HPA042873.
MIMi 610531. gene.
610532. phenotype.
neXtProti NX_Q9BYI3.
Orphaneti 85163. Hypomyelination - congenital cataract.
PharmGKBi PA162385852.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG301487.
HOGENOMi HOG000252938.
HOVERGENi HBG057270.
InParanoidi Q9BYI3.
OMAi NCSNKTS.
OrthoDBi EOG751NF5.
PhylomeDBi Q9BYI3.
TreeFami TF317153.

Miscellaneous databases

ChiTaRSi FAM126A. human.
GenomeRNAii 84668.
NextBioi 74665.
PROi Q9BYI3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BYI3.
Bgeei Q9BYI3.
CleanExi HS_FAM126A.
Genevestigatori Q9BYI3.

Family and domain databases

InterProi IPR018619. Hyccin.
[Graphical view ]
Pfami PF09790. Hyccin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: INVOLVEMENT IN HLD5.
  10. Cited for: VARIANT HLD5 PRO-53, FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiHYCCI_HUMAN
AccessioniPrimary (citable) accession number: Q9BYI3
Secondary accession number(s): A4D145
, Q6N010, Q75MR4, Q7LDZ4, Q96MX1, Q96NQ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: October 11, 2005
Last modified: July 9, 2014
This is version 87 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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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