ID GCA2_HUMAN STANDARD; PRT; 199 AA. AC Q9UMX6; DT 01-OCT-2000 (Rel. 40, Created) DT 01-OCT-2000 (Rel. 40, Last sequence update) DT 01-OCT-2000 (Rel. 40, Last annotation update) DE GUANYLATE CYCLASE ACTIVATING PROTEIN 2 (GCAP 2) (GUANYLATE CYCLASE DE ACTIVATOR 1B). GN GUCA1B. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. RX MEDLINE=97224460; PubMed=9119368; RA Surguchov A., Bronson J.D., Banerjee P., Knowles J.A., Ruiz C., RA Subbaraya I., Palczewski K., Baehr W.; RT "The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array RT on the short arm of chromosome 6 (p21.1)."; RL Genomics 39:312-322(1997). RN [2] RP VARIANT ASP-154. RX MEDLINE=99435583; PubMed=10507726; RA Payne A.M., Downes S.M., Bessant D.A., Plant C., Moore T., Bird A.C., RA Bhattacharya S.S.; RT "Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene RT in patients with autosomal dominant retinal dystrophies."; RL J. Med. Genet. 36:691-693(1999). CC -!- FUNCTION: STIMULATES SYNTHESIS OF CGMP IN PHOTORECEPTORS. THOUGHT CC TO MEDIATE CA(2+)-SENSITIVE REGULATION OF GUANYLYL CYCLASE (GC), A CC KEY EVENT IN RECOVERY OF THE DARK STATE OF ROD PHOTORECEPTORS CC FOLLOWING LIGHT EXPOSURE (BY SIMILARITY). CC -!- SUBCELLULAR LOCATION: MEMBRANES OF OUTER SEGMENT. CC -!- TISSUE SPECIFICITY: RETINA-SPECIFIC. CC -!- SIMILARITY: CONTAINS 4 EF-HAND CALCIUM-BINDING DOMAINS. CC -------------------------------------------------------------------------- CC This SWISS-PROT entry is copyright. It is produced through a collaboration CC between the Swiss Institute of Bioinformatics and the EMBL outstation - CC the European Bioinformatics Institute. There are no restrictions on its CC use by non-profit institutions as long as its content is in no way CC modified and this statement is not removed. Usage by and for commercial CC entities requires a license agreement (See http://www.isb-sib.ch/announce/ CC or send an email to license@isb-sib.ch). CC -------------------------------------------------------------------------- DR EMBL; AF173229; AAD47279.1; -. DR EMBL; AF173227; AAD47279.1; JOINED. DR EMBL; AF173228; AAD47279.1; JOINED. DR MIM; 602275; -. DR PROSITE; PS00018; EF_HAND; 3. KW Calcium-binding; Repeat; Vision; Myristate; Polymorphism. FT INIT_MET 0 0 POTENTIAL. FT LIPID 1 1 MYRISTATE (POTENTIAL). FT DOMAIN 29 40 ANCESTRAL CALCIUM SITE 1 (POTENTIAL). FT CA_BIND 65 76 SITE 2 (POTENTIAL). FT CA_BIND 101 112 SITE 3 (POTENTIAL). FT CA_BIND 153 164 SITE 4 (POTENTIAL). FT VARIANT 154 154 E -> D. FT /FTID=VAR_009127. SQ SEQUENCE 199 AA; 23346 MW; 9C406CF4BCAA086B CRC64; GQEFSWEEAE AAGEIDVAEL QEWYKKFVME CPSGTLFMHE FKRFFKVTDD EEASQYVEGM FRAFDKNGDN TIDFLEYVAA LNLVLRGTLE HKLKWTFKIY DKDGNGCIDR LELLNIVEGI YQLKKACRRE LQTEQDQLLT PEEVVDRIFL LVDENGDGQL SLNEFVEGAR RDKWVMKMLQ MDMNPSSWLA QQRRKSAMF //