9.A.46.1.1
Tetraspanning Clarin-1, CLRN1 (USH3A gene). The causative protein which when mutated, gives rise to human Usher syndrome type 3A (Phillips et al. 2013), blind-deafness (Reiners et al. 2006). It exists in the USH complex involved in mechano-transduction in auditory hair cells and phooreceptors (Zallocchi et al. 2009; Ogun and Zallocchi 2014).
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| Accession Number: | P58418 |
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| Protein Name: | Clarin-1 |
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| Length: | 232 |
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| Molecular Weight: | 25719.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Number of TMSs: | 4 |
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| Location1 / Topology2 / Orientation3: |
Membrane1 / Multi-pass membrane protein2 |
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| Substrate |
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1: MPSQQKKIIF CMAGVFSFAC ALGVVTALGT PLWIKATVLC KTGALLVNAS GQELDKFMGE
61: MQYGLFHGEG VRQCGLGARP FRFSFFPDLL KAIPVSIHVN VILFSAILIV LTMVGTAFFM
121: YNAFGKPFET LHGPLGLYLL SFISGSCGCL VMILFASEVK IHHLSEKIAN YKEGTYVYKT
181: QSEKYTTSFW VIFFCFFVHF LNGLLIRLAG FQFPFAKSKD AETTNVAADL MY