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  Domain Name: 7tm_1
7 transmembrane receptor (rhodopsin family). This family contains, amongst other G-protein-coupled receptors (GCPRs), members of the opsin family, which have been considered to be typical members of the rhodopsin superfamily. They share several motifs, mainly the seven transmembrane helices, GCPRs of the rhodopsin superfamily. All opsins bind a chromophore, such as 11-cis-retinal. The function of most opsins other than the photoisomerases is split into two steps: light absorption and G-protein activation. Photoisomerases, on the other hand, are not coupled to G-proteins - they are thought to generate and supply the chromophore that is used by visual opsins.

Total Mutations Found: 1082
Total Disease Mutations Found: 144
This domain occurred 647 times on human genes (1067 proteins).



  BETA-2-ADRENORECEPTOR AGONIST, REDUCED RESPONSE TO
  BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
  BLEEDING DISORDER, PLATELET-TYPE, 8
  BLUE CONE MONOCHROMACY
  DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
  DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO
  FERTILE EUNUCH SYNDROME, INCLUDED
  GLUCOCORTICOID DEFICIENCY 1
  HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
  HYPERTHYROIDISM, NONAUTOIMMUNE
  HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 7 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 8 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
  HYPOTRICHOSIS 8
  HYPOTRICHOSIS 8, INCLUDED
  INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFI
  LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY
  LEYDIG CELL HYPOPLASIA, TYPE I
  LEYDIG HYPOPLASIA, TYPE I
  LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
  MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
  MYOCLONUS-DYSTONIA SYNDROME
  NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
  OBESITY
  OBESITY, SUSCEPTIBILITY TO
  OVARIAN DYSGENESIS 1
  OVARIAN HYPERSTIMULATION SYNDROME
  PRECOCIOUS PUBERTY, MALE-LIMITED
  RENAL TUBULAR DYSGENESIS
  RETINITIS PIGMENTOSA 44
  SHORT STATURE, IDIOPATHIC, AUTOSOMAL
  SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
  SOMATOSTATIN ANALOG, RESISTANCE TO
  THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC
  THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC, INCLUDED
  THYROID CARCINOMA WITH THYROTOXICOSIS
  UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO
  WAARDENBURG SYNDROME, TYPE 4A
  WAARDENBURG SYNDROME, TYPE 4A, INCLUDED
  WOOLLY HAIR, AUTOSOMAL RECESSIVE 1
  WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS


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