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Q9UMX6

- GUC1B_HUMAN

UniProt

Q9UMX6 - GUC1B_HUMAN

Protein

Guanylyl cyclase-activating protein 2

Gene

GUCA1B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 4 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca2+-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi66 – 77121PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi102 – 113122PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi154 – 165123PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. calcium sensitive guanylate cyclase activator activity Source: ProtInc

    GO - Biological processi

    1. body fluid secretion Source: ProtInc
    2. cell-cell signaling Source: ProtInc
    3. phototransduction, visible light Source: Reactome
    4. positive regulation of guanylate cyclase activity Source: GOC
    5. receptor guanylyl cyclase signaling pathway Source: ProtInc
    6. regulation of rhodopsin mediated signaling pathway Source: Reactome
    7. rhodopsin mediated signaling pathway Source: Reactome
    8. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    Calcium, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Guanylyl cyclase-activating protein 2
    Short name:
    GCAP 2
    Alternative name(s):
    Guanylate cyclase activator 1B
    Gene namesi
    Name:GUCA1B
    Synonyms:GCAP2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:4679. GUCA1B.

    Subcellular locationi

    Cell membrane
    Note: Membranes of outer segment.

    GO - Cellular componenti

    1. photoreceptor disc membrane Source: Reactome
    2. photoreceptor inner segment Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Retinitis pigmentosa 48 (RP48) [MIM:613827]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti157 – 1571G → R in RP48. 1 Publication
    Corresponds to variant rs121909124 [ dbSNP | Ensembl ].
    VAR_065355

    Keywords - Diseasei

    Disease mutation, Retinitis pigmentosa

    Organism-specific databases

    MIMi613827. phenotype.
    Orphaneti791. Retinitis pigmentosa.
    PharmGKBiPA29063.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 200199Guanylyl cyclase-activating protein 2PRO_0000073808Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi2 – 21N-myristoyl glycineBy similarity

    Keywords - PTMi

    Lipoprotein, Myristate

    Proteomic databases

    PaxDbiQ9UMX6.
    PRIDEiQ9UMX6.

    PTM databases

    PhosphoSiteiQ9UMX6.

    Expressioni

    Tissue specificityi

    Retina. Cones and rod.

    Gene expression databases

    BgeeiQ9UMX6.
    CleanExiHS_GUCA1B.
    GenevestigatoriQ9UMX6.

    Organism-specific databases

    HPAiHPA031453.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000230361.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UMX6.
    SMRiQ9UMX6. Positions 2-186.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini2 – 3130EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini53 – 8836EF-hand 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini89 – 12436EF-hand 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini141 – 17636EF-hand 4PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 4 EF-hand domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG5126.
    HOGENOMiHOG000233019.
    HOVERGENiHBG108179.
    InParanoidiQ9UMX6.
    KOiK08328.
    OMAiTQYVEGM.
    OrthoDBiEOG70GMGR.
    PhylomeDBiQ9UMX6.
    TreeFamiTF333971.

    Family and domain databases

    Gene3Di1.10.238.10. 1 hit.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    IPR015756. GCAP-2.
    IPR028846. Recoverin.
    [Graphical view]
    PANTHERiPTHR23055. PTHR23055. 1 hit.
    PTHR23055:SF11. PTHR23055:SF11. 1 hit.
    PfamiPF13499. EF-hand_7. 2 hits.
    [Graphical view]
    SMARTiSM00054. EFh. 3 hits.
    [Graphical view]
    PROSITEiPS00018. EF_HAND_1. 3 hits.
    PS50222. EF_HAND_2. 4 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9UMX6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGQEFSWEEA EAAGEIDVAE LQEWYKKFVM ECPSGTLFMH EFKRFFKVTD    50
    DEEASQYVEG MFRAFDKNGD NTIDFLEYVA ALNLVLRGTL EHKLKWTFKI 100
    YDKDGNGCID RLELLNIVEG IYQLKKACRR ELQTEQGQLL TPEEVVDRIF 150
    LLVDENGDGQ LSLNEFVEGA RRDKWVMKML QMDMNPSSWL AQQRRKSAMF 200
    Length:200
    Mass (Da):23,420
    Last modified:January 23, 2007 - v4
    Checksum:i79B898868BA35768
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti137 – 1371G → D in AAD47279. (PubMed:9119368)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti155 – 1551E → D.1 Publication
    Corresponds to variant rs139923590 [ dbSNP | Ensembl ].
    VAR_009127
    Natural varianti157 – 1571G → R in RP48. 1 Publication
    Corresponds to variant rs121909124 [ dbSNP | Ensembl ].
    VAR_065355

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF173229, AF173227, AF173228 Genomic DNA. Translation: AAD47279.1.
    AL096814 Genomic DNA. Translation: CAB89166.1.
    CCDSiCCDS4865.1.
    RefSeqiNP_002089.4. NM_002098.5.
    UniGeneiHs.446529.

    Genome annotation databases

    EnsembliENST00000230361; ENSP00000230361; ENSG00000112599.
    GeneIDi2979.
    KEGGihsa:2979.
    UCSCiuc003orz.3. human.

    Polymorphism databases

    DMDMi116242507.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF173229 , AF173227 , AF173228 Genomic DNA. Translation: AAD47279.1 .
    AL096814 Genomic DNA. Translation: CAB89166.1 .
    CCDSi CCDS4865.1.
    RefSeqi NP_002089.4. NM_002098.5.
    UniGenei Hs.446529.

    3D structure databases

    ProteinModelPortali Q9UMX6.
    SMRi Q9UMX6. Positions 2-186.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000230361.

    PTM databases

    PhosphoSitei Q9UMX6.

    Polymorphism databases

    DMDMi 116242507.

    Proteomic databases

    PaxDbi Q9UMX6.
    PRIDEi Q9UMX6.

    Protocols and materials databases

    DNASUi 2979.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000230361 ; ENSP00000230361 ; ENSG00000112599 .
    GeneIDi 2979.
    KEGGi hsa:2979.
    UCSCi uc003orz.3. human.

    Organism-specific databases

    CTDi 2979.
    GeneCardsi GC06M042151.
    GeneReviewsi GUCA1B.
    H-InvDB HIX0200903.
    HGNCi HGNC:4679. GUCA1B.
    HPAi HPA031453.
    MIMi 602275. gene.
    613827. phenotype.
    neXtProti NX_Q9UMX6.
    Orphaneti 791. Retinitis pigmentosa.
    PharmGKBi PA29063.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5126.
    HOGENOMi HOG000233019.
    HOVERGENi HBG108179.
    InParanoidi Q9UMX6.
    KOi K08328.
    OMAi TQYVEGM.
    OrthoDBi EOG70GMGR.
    PhylomeDBi Q9UMX6.
    TreeFami TF333971.

    Enzyme and pathway databases

    Reactomei REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.

    Miscellaneous databases

    GeneWikii GUCA1B.
    GenomeRNAii 2979.
    NextBioi 11816.
    PROi Q9UMX6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UMX6.
    CleanExi HS_GUCA1B.
    Genevestigatori Q9UMX6.

    Family and domain databases

    Gene3Di 1.10.238.10. 1 hit.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    IPR015756. GCAP-2.
    IPR028846. Recoverin.
    [Graphical view ]
    PANTHERi PTHR23055. PTHR23055. 1 hit.
    PTHR23055:SF11. PTHR23055:SF11. 1 hit.
    Pfami PF13499. EF-hand_7. 2 hits.
    [Graphical view ]
    SMARTi SM00054. EFh. 3 hits.
    [Graphical view ]
    PROSITEi PS00018. EF_HAND_1. 3 hits.
    PS50222. EF_HAND_2. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1)."
      Surguchov A., Bronson J.D., Banerjee P., Knowles J.A., Ruiz C., Subbaraya I., Palczewski K., Baehr W.
      Genomics 39:312-322(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies."
      Payne A.M., Downes S.M., Bessant D.A.R., Plant C., Moore T., Bird A.C., Bhattacharya S.S.
      J. Med. Genet. 36:691-693(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASP-155.
    4. "Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies."
      Sato M., Nakazawa M., Usui T., Tanimoto N., Abe H., Ohguro H.
      Graefes Arch. Clin. Exp. Ophthalmol. 243:235-242(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP48 ARG-157.

    Entry informationi

    Entry nameiGUC1B_HUMAN
    AccessioniPrimary (citable) accession number: Q9UMX6
    Secondary accession number(s): Q9NU15
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 123 of the entry and version 4 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

    Miscellaneous

    Binds three calcium ions.By similarity

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: 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