Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9BUX1

- CHAC1_HUMAN

UniProt

Q9BUX1 - CHAC1_HUMAN

Protein

Cation transport regulator-like protein 1

Gene

CHAC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 2 (20 Apr 2010)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Negative regulator of Notch signaling pathway involved in embryonic neurogenesis: acts by inhibiting Notch cleavage by furin, maintaining Notch in an immature inactive form, thereby promoting neurogenesis in embryos. May also act as a pro-apoptotic component of the unfolded protein response pathway by mediating the pro-apoptotic effects of the ATF4-ATF3-DDIT3/CHOP cascade.2 Publications

    GO - Molecular functioni

    1. Notch binding Source: UniProtKB
    2. protein binding Source: IntAct

    GO - Biological processi

    1. intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: UniProtKB
    2. negative regulation of Notch signaling pathway Source: UniProtKB
    3. negative regulation of protein processing Source: UniProtKB
    4. neurogenesis Source: UniProtKB
    5. Notch signaling pathway Source: UniProtKB-KW
    6. response to unfolded protein Source: UniProtKB-KW

    Keywords - Biological processi

    Apoptosis, Neurogenesis, Notch signaling pathway, Unfolded protein response

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cation transport regulator-like protein 1
    Alternative name(s):
    Blocks Notch protein
    Short name:
    Botch
    Gene namesi
    Name:CHAC1
    Synonyms:BOTCH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:28680. CHAC1.

    Subcellular locationi

    Golgi apparatustrans-Golgi network By similarity. Cytoplasmcytosol 1 Publication

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. trans-Golgi network Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Golgi apparatus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672119.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 264264Cation transport regulator-like protein 1PRO_0000239010Add
    BLAST

    Proteomic databases

    PaxDbiQ9BUX1.
    PRIDEiQ9BUX1.

    PTM databases

    PhosphoSiteiQ9BUX1.

    Expressioni

    Inductioni

    Induced by chemical activators of the unfolded protein response (UPR) such as tunicamycin, DTT and thapsigargin.1 Publication

    Gene expression databases

    ArrayExpressiQ9BUX1.
    BgeeiQ9BUX1.
    CleanExiHS_CHAC1.
    GenevestigatoriQ9BUX1.

    Organism-specific databases

    HPAiHPA042708.
    HPA043505.

    Interactioni

    Subunit structurei

    Interacts with NOTCH1 (via extracellular region).By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    RHOXF2Q9BQY42EBI-751127,EBI-372094

    Protein-protein interaction databases

    BioGridi122541. 2 interactions.
    IntActiQ9BUX1. 1 interaction.
    MINTiMINT-1451921.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BUX1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ChaC family.Curated

    Phylogenomic databases

    eggNOGiCOG3703.
    HOGENOMiHOG000264264.
    HOVERGENiHBG056733.
    InParanoidiQ9BUX1.
    KOiK07232.
    OMAiGTMKQES.
    OrthoDBiEOG7F7W9F.
    PhylomeDBiQ9BUX1.
    TreeFamiTF313048.

    Family and domain databases

    Gene3Di3.10.490.10. 1 hit.
    InterProiIPR013024. Butirosin_synth_BtrG-like.
    IPR006840. ChaC.
    [Graphical view]
    PANTHERiPTHR12192. PTHR12192. 1 hit.
    PfamiPF04752. ChaC. 1 hit.
    [Graphical view]
    SUPFAMiSSF110857. SSF110857. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BUX1-1) [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

    MGGAQLELPS GARPGVCVRR SFRAHAGDQP RRPPGPIPVP GTMKQESAAP    50
    NTPPTSQSPT PSAQFPRNDG DPQALWIFGY GSLVWRPDFA YSDSRVGFVR 100
    GYSRRFWQGD TFHRGSDKMP GRVVTLLEDH EGCTWGVAYQ VQGEQVSKAL 150
    KYLNVREAVL GGYDTKEVTF YPQDAPDQPL KALAYVATPQ NPGYLGPAPE 200
    EAIATQILAC RGFSGHNLEY LLRLADFMQL CGPQAQDEHL AAIVDAVGTM 250
    LPCFCPTEQA LALV 264
    Length:264
    Mass (Da):28,747
    Last modified:April 20, 2010 - v2
    Checksum:i746047C1AD03D375
    GO
    Isoform 2 (identifier: Q9BUX1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         146-190: Missing.

    Show »
    Length:219
    Mass (Da):23,795
    Checksum:iA7EC06A98FB979EA
    GO

    Sequence cautioni

    The sequence AAH01683.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAH01847.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAH19625.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAW23972.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti10 – 123SGA → ARG in AAH01683. (PubMed:15489334)Curated
    Sequence conflicti59 – 591P → H in AAW23972. 1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei146 – 19045Missing in isoform 2. 1 PublicationVSP_038960Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC020661 Genomic DNA. No translation available.
    BC001683 mRNA. Translation: AAH01683.1. Different initiation.
    BC001847 mRNA. Translation: AAH01847.1. Different initiation.
    BC019625 mRNA. Translation: AAH19625.1. Different initiation.
    AY702027 mRNA. Translation: AAW23972.1. Different initiation.
    CCDSiCCDS10070.2. [Q9BUX1-1]
    CCDS45233.1. [Q9BUX1-2]
    RefSeqiNP_001136248.1. NM_001142776.1. [Q9BUX1-2]
    NP_077016.2. NM_024111.3. [Q9BUX1-1]
    UniGeneiHs.155569.

    Genome annotation databases

    EnsembliENST00000444189; ENSP00000395466; ENSG00000128965. [Q9BUX1-2]
    ENST00000446533; ENSP00000398105; ENSG00000128965. [Q9BUX1-1]
    GeneIDi79094.
    KEGGihsa:79094.
    UCSCiuc001znh.2. human. [Q9BUX1-1]
    uc010uct.1. human. [Q9BUX1-2]

    Polymorphism databases

    DMDMi294862423.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC020661 Genomic DNA. No translation available.
    BC001683 mRNA. Translation: AAH01683.1 . Different initiation.
    BC001847 mRNA. Translation: AAH01847.1 . Different initiation.
    BC019625 mRNA. Translation: AAH19625.1 . Different initiation.
    AY702027 mRNA. Translation: AAW23972.1 . Different initiation.
    CCDSi CCDS10070.2. [Q9BUX1-1 ]
    CCDS45233.1. [Q9BUX1-2 ]
    RefSeqi NP_001136248.1. NM_001142776.1. [Q9BUX1-2 ]
    NP_077016.2. NM_024111.3. [Q9BUX1-1 ]
    UniGenei Hs.155569.

    3D structure databases

    ProteinModelPortali Q9BUX1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122541. 2 interactions.
    IntActi Q9BUX1. 1 interaction.
    MINTi MINT-1451921.

    PTM databases

    PhosphoSitei Q9BUX1.

    Polymorphism databases

    DMDMi 294862423.

    Proteomic databases

    PaxDbi Q9BUX1.
    PRIDEi Q9BUX1.

    Protocols and materials databases

    DNASUi 79094.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000444189 ; ENSP00000395466 ; ENSG00000128965 . [Q9BUX1-2 ]
    ENST00000446533 ; ENSP00000398105 ; ENSG00000128965 . [Q9BUX1-1 ]
    GeneIDi 79094.
    KEGGi hsa:79094.
    UCSCi uc001znh.2. human. [Q9BUX1-1 ]
    uc010uct.1. human. [Q9BUX1-2 ]

    Organism-specific databases

    CTDi 79094.
    GeneCardsi GC15P041245.
    H-InvDB HIX0012144.
    HGNCi HGNC:28680. CHAC1.
    HPAi HPA042708.
    HPA043505.
    MIMi 614587. gene.
    neXtProti NX_Q9BUX1.
    PharmGKBi PA142672119.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3703.
    HOGENOMi HOG000264264.
    HOVERGENi HBG056733.
    InParanoidi Q9BUX1.
    KOi K07232.
    OMAi GTMKQES.
    OrthoDBi EOG7F7W9F.
    PhylomeDBi Q9BUX1.
    TreeFami TF313048.

    Miscellaneous databases

    ChiTaRSi CHAC1. human.
    GenomeRNAii 79094.
    NextBioi 67939.
    PROi Q9BUX1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BUX1.
    Bgeei Q9BUX1.
    CleanExi HS_CHAC1.
    Genevestigatori Q9BUX1.

    Family and domain databases

    Gene3Di 3.10.490.10. 1 hit.
    InterProi IPR013024. Butirosin_synth_BtrG-like.
    IPR006840. ChaC.
    [Graphical view ]
    PANTHERi PTHR12192. PTHR12192. 1 hit.
    Pfami PF04752. ChaC. 1 hit.
    [Graphical view ]
    SUPFAMi SSF110857. SSF110857. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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] OF 9-264 (ISOFORM 1).
      Tissue: Liver and Muscle.
    3. "Cloning and analyzing of a new chaC like cDNA from human kidney."
      Zheng J.M., Liu Z.H., Li L.S.
      Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 41-264 (ISOFORM 2).
    4. "CHAC1/MGC4504 is a novel proapoptotic component of the unfolded protein response, downstream of the ATF4-ATF3-CHOP cascade."
      Mungrue I.N., Pagnon J., Kohannim O., Gargalovic P.S., Lusis A.J.
      J. Immunol. 182:466-476(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INDUCTION, SUBCELLULAR LOCATION.
    5. Cited for: FUNCTION.

    Entry informationi

    Entry nameiCHAC1_HUMAN
    AccessioniPrimary (citable) accession number: Q9BUX1
    Secondary accession number(s): Q0VIA0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2006
    Last sequence update: April 20, 2010
    Last modified: October 1, 2014
    This is version 96 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

    Caution

    It is uncertain whether Met-1 or Met-43 is the initiator. Met-1 is not conserved in orthologs.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3