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Q9UMX6

- GUC1B_HUMAN

UniProt

Q9UMX6 - GUC1B_HUMAN

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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

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. receptor guanylyl cyclase signaling pathway Source: ProtInc
  5. regulation of rhodopsin mediated signaling pathway Source: Reactome
  6. rhodopsin mediated signaling pathway Source: Reactome
  7. visual perception Source: UniProtKB-KW
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00760000118820.
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

        10         20         30         40         50
MGQEFSWEEA EAAGEIDVAE LQEWYKKFVM ECPSGTLFMH EFKRFFKVTD
60 70 80 90 100
DEEASQYVEG MFRAFDKNGD NTIDFLEYVA ALNLVLRGTL EHKLKWTFKI
110 120 130 140 150
YDKDGNGCID RLELLNIVEG IYQLKKACRR ELQTEQGQLL TPEEVVDRIF
160 170 180 190 200
LLVDENGDGQ LSLNEFVEGA RRDKWVMKML QMDMNPSSWL AQQRRKSAMF
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00760000118820.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 124 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