WHRN_MOUSE Q80VW5
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UniProt:Q80VW5
Recommended name:Whirlin
EC number:
Alternative names:
Cleaved into:
GeneID:73750
Gene names (primary ):Whrn
Gene names (synonym ):Dfnb31 Kiaa1526
Gene names (ORF ):
Length:918
Mass:98012
Sequence:MNAQLDGLSVSSSSTGSLGSAAAAAGGGGGAGLRLLSANVRQLHQALTALLSEPEREQFTHCLNAYHARRNVFDLVRTLRVLLDSPVKRRLLPMLRLVIPRSDQLLFDQYTAEGLYLPATTPYRQPAWAAPDGAGPGEVRLVSLRRAKAHEGLGFSIRGGSEHGVGIYVSLVEPGSLAEKEGLRVGDQILRVNDKSLARVTHAEAVKALKGSKKLVLSVYSAGRIPGGYVTNHIYTWVDPQGRSTSPPSSLPQPHGSTLRQREDDRRSTLHLLQSGDEKKVNLVLGDGRSLGLTIRGGAEYGLGIYITGVDPGSEAESSGLKVGDQILEVNGRSFLNILHDEAVKLLKSSRHLILTVKDVGRLPHARTTVDQTKWIASSRIGESVANSAGFPGDHTEEGTSKPGFYKGPAGSQVTLSSLGNQTRALLDDQARHLLTEQERATMMYYLAQYRGGTISVEAMVMALFELLNTHAKFSLLSEVRSIISPQDLDRFDHLVLRREIESMKARQPPGPGVGDTYSMVSYSDTGSSTGSHGTSTTVSSARERLLWLIDLMENTLDLEGTGETTQGSTNALPDVSVDDVKSPSEDLPGIKPPPPPPPLAQGHDRLLGQPRKPGREDPAPLSSAAHSGIVFSAPRNRSPPPGTAPTPGPSSAQDSPSSPIYASISHANPSSRKPLDTHLALVNQHPIGPFPRVQSPPHLKSPPAETPGAGACLPPPSPSEHPDAVGANQHFVLVEVHRPDSEPDVNEVRALPQTRTASTLSQLSDSGQTLSEDSGVDAGETEASTSGRGRQTASAKNKNGKEQPRTERTAEGANKPPGLLEPTSTLVRVRKSAATLGIAIEGGANTRQPLPRIVTIQRGGSAHNCGQLKVGHVILEVNGQTLRGKEHKEAARIIAEAFKTKERDYIDFLVTEFNVML
Tissue specificity:Expressed in the retina. Colocalizes with RPGR in the photoreceptor connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (at protein level). Detected in the inner ear throughout development from embryonic day 12 to 20 days after birth. Displays a dynamic pattern of expression after birth, demonstrating an ordered appearance and fade-out across stereocilia rows. Isoforms 5, 6, 7 and 8 are not detected in the retina (PubMed:20502675). {ECO:0000269|PubMed:12833159, ECO:0000269|PubMed:15590699, ECO:0000269|PubMed:17567809, ECO:0000269|PubMed:20502675, ECO:0000269|PubMed:22323458}.
Induction:
Developmental stage:At 10.5 dpc, expressed in the basal plate of the spinal cord, in the ventralneural epithelium of the developing brain and in the region of the lung bud. At 12.5 dpc, expressed in the complete neuroepithelium except for the neocortex. In the developing eye, expressed in the inner neuroblastic layer. At 14.5 dpc, detected in the intervertebral cartilage, the cortex of the developing kidney, the tongue, the region of the urethra and strongly in specific regions of the brain, e.g. striatum, optic recess, ventral tegmental area, roof of the midbrain, choroid plexus of the lateral ventricles and the fourth ventricle. The developing neocortex is devoid of expression. At this timepoint, expression is first notable in the inner ear in the developing maculae of the saccule and the utricle, in the cristae of the semicircular canals and in the vestibulocochlear ganglion. In the developing neural retina, a strong signal is present in the inner neuroblastic layer. At 16.5 dpc, expression is very similar to that at 14.5 dpc. At 18.5 dpc, expression is mainly as in 16.5 dpc. Expression in the ganglion layers of the retina decreases and is no longer detected in the innermost region of these layers. From postnatal day 7 (P7) onwards, also the developing photoreceptor cells express whirlin (PubMed:16434480). Expression decreases by 11 days after birth in inner ear hair cells and by 14 days after birth in outer ear hair cells. Expressed in vestibular hair cells at high levels through to adulthood. {ECO:0000269|PubMed:15590699, ECO:0000269|PubMed:16434480}.
Protein families: