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Q9BYI3

- HYCCI_HUMAN

UniProt

Q9BYI3 - HYCCI_HUMAN

Protein

Hyccin

Gene

FAM126A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 2 (11 Oct 2005)
      Previous versions | rss
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    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.1 Publication

    GO - Molecular functioni

    1. signal transducer activity Source: UniProtKB

    GO - Biological processi

    1. signal transduction Source: GOC

    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 PubMed:10910037, it is mainly cytoplasmic while according to PubMed:16951682, it is a membrane protein.

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. plasma membrane Source: HPA

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 521521HyccinPRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FAM126 family.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti160 – 1601V → A in BAB39849. (PubMed:10910037)Curated
    Sequence conflicti194 – 1941Y → C in BAB39849. (PubMed:10910037)Curated
    Sequence conflicti474 – 4741A → V in CAE45864. (PubMed:17974005)Curated

    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. 1 PublicationVSP_023126Add
    BLAST

    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

    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: October 1, 2014
    This is version 88 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