Q9P202 · WHRN_HUMAN
- ProteinWhirlin
- GeneWHRN
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids907 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameWhirlin
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9P202
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. Localizes to both tip and ankle-link stereocilia regions. Colocalizes with the growing ends of actin filaments. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the connecting cilia called periciliary membrane complex.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Deafness, autosomal recessive, 31 (DFNB31)
- Note
- DescriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
- See alsoMIM:607084
Usher syndrome 2D (USH2D)
- Note
- DescriptionUSH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
- See alsoMIM:611383
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_036684 | 364 | in dbSNP:rs10817610 | |||
Sequence: H → R | ||||||
Natural variant | VAR_036685 | 423 | in dbSNP:rs35003670 | |||
Sequence: R → P | ||||||
Natural variant | VAR_020593 | 440 | in dbSNP:rs4978584 | |||
Sequence: A → T | ||||||
Natural variant | VAR_057029 | 443 | in dbSNP:rs11539662 | |||
Sequence: A → S | ||||||
Natural variant | VAR_036686 | 562 | in dbSNP:rs12339210 | |||
Sequence: P → A | ||||||
Natural variant | VAR_036687 | 613 | in dbSNP:rs942519 | |||
Sequence: M → T | ||||||
Natural variant | VAR_036688 | 752 | in dbSNP:rs6478078 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_020594 | 783 | in dbSNP:rs2274159 | |||
Sequence: V → A | ||||||
Natural variant | VAR_020595 | 796 | in dbSNP:rs2274158 | |||
Sequence: N → K | ||||||
Natural variant | VAR_020596 | 813 | in dbSNP:rs143728180 | |||
Sequence: T → M |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,245 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000065968 | 1-907 | UniProt | Whirlin | |||
Sequence: MNAPLDGLSVSSSSTGSLGSAAGAGGGGGAGLRLLSANVRQLHQALTALLSEAEREQFTHCLNAYHARRNVFDLVRTLRVLLDSPVKRRLLPMLRLVIPRSDQLLFDQYTAEGLYLPATTPYRQPAWGGPDSAGPGEVRLVSLRRAKAHEGLGFSIRGGSEHGVGIYVSLVEPGSLAEKEGLRVGDQILRVNDKSLARVTHAEAVKALKGSKKLVLSVYSAGRIPGGYVTNHIYTWVDPQGRSISPPSGLPQPHGGALRQQEGDRRSTLHLLQGGDEKKVNLVLGDGRSLGLTIRGGAEYGLGIYITGVDPGSEAEGSGLKVGDQILEVNGRSFLNILHDEAVRLLKSSRHLILTVKDVGRLPHARTTVDETKWIASSRIRETMANSAGFLGDLTTEGINKPGFYKGPAGSQVTLSSLGNQTRVLLEEQARHLLNEQEHATMAYYLDEYRGGSVSVEALVMALFKLLNTHAKFSLLSEVRGTISPQDLERFDHLVLRREIESMKARQPPGPGAGDTYSMVSYSDTGSSTGSHGTSTTVSSARNTLDLEETGEAVQGNINALPDVSVDDVRSTSQGLSSFKPLPRPPPLAQGNDLPLGQPRKLGREDLQPPSSMPSCSGTVFSAPQNRSPPAGTAPTPGTSSAQDLPSSPIYASVSPANPSSKRPLDAHLALVNQHPIGPFPRVQSPPHLKSPSAEATVAGGCLLPPSPSGHPDQTGTNQHFVMVEVHRPDSEPDVNEVRALPQTRTASTLSQLSDSGQTLSEDSGVDAGEAEASAPGRGRQSVSTKSRSSKELPRNERPTDGANKPPGLLEPTSTLVRVKKSAATLGIAIEGGANTRQPLPRIVTIQRGGSAHNCGQLKVGHVILEVNGLTLRGKEHREAARIIAEAFKTKDRDYIDFLVTEFNVML | |||||||
Modified residue (large scale data) | 245 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 685 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 685 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Forms homooligomers (By similarity).
Interacts (via C-terminal PDZ domain) with MYO15A; this interaction is necessary for localization of WHRN to stereocilia tips (By similarity).
Interacts (via C-terminal PDZ domain) with MPP1/p55 (PubMed:17584769).
Interacts with LRRC4C/NGL1. Interacts with MYO7A. Interacts with RPGR. Interacts with EPS8 (By similarity).
Interacts with CASK (By similarity).
Interacts with CIB2 (PubMed:23023331).
Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN. Interacts (via PDZ domains) with PDZD7; the interaction is direct. Interacts (via N-terminal PDZ domain) with USH2A (via cytoplasmic region) (PubMed:16434480).
Interacts with ADGRV1/MASS1 (via cytoplasmic region) (PubMed:16434480).
Interacts (via C-terminal PDZ domain) with MYO15A; this interaction is necessary for localization of WHRN to stereocilia tips (By similarity).
Interacts (via C-terminal PDZ domain) with MPP1/p55 (PubMed:17584769).
Interacts with LRRC4C/NGL1. Interacts with MYO7A. Interacts with RPGR. Interacts with EPS8 (By similarity).
Interacts with CASK (By similarity).
Interacts with CIB2 (PubMed:23023331).
Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN. Interacts (via PDZ domains) with PDZD7; the interaction is direct. Interacts (via N-terminal PDZ domain) with USH2A (via cytoplasmic region) (PubMed:16434480).
Interacts with ADGRV1/MASS1 (via cytoplasmic region) (PubMed:16434480).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9P202 | BEND7 Q8N7W2-2 | 3 | EBI-310886, EBI-10181188 | |
BINARY | Q9P202 | BMI1 P35226 | 3 | EBI-310886, EBI-2341576 | |
BINARY | Q9P202 | COL17A1 Q9UMD9 | 3 | EBI-310886, EBI-2528742 | |
BINARY | Q9P202 | DDIT4L Q96D03 | 3 | EBI-310886, EBI-742054 | |
BINARY | Q9P202 | EFHC1 Q5JVL4 | 3 | EBI-310886, EBI-743105 | |
BINARY | Q9P202 | GOLGA2 Q08379 | 3 | EBI-310886, EBI-618309 | |
BINARY | Q9P202 | GPSM2 P81274 | 3 | EBI-310886, EBI-618655 | |
BINARY | Q9P202 | KEAP1 Q14145 | 3 | EBI-310886, EBI-751001 | |
BINARY | Q9P202 | PXN P49023-2 | 3 | EBI-310886, EBI-11954250 | |
BINARY | Q9P202 | SPC24 Q8NBT2 | 3 | EBI-310886, EBI-999900 | |
BINARY | Q9P202 | TPRN Q4KMQ1-2 | 7 | EBI-310886, EBI-11978969 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 140-223 | PDZ 1 | ||||
Sequence: LVSLRRAKAHEGLGFSIRGGSEHGVGIYVSLVEPGSLAEKEGLRVGDQILRVNDKSLARVTHAEAVKALKGSKKLVLSVYSAGR | ||||||
Region | 243-264 | Disordered | ||||
Sequence: SISPPSGLPQPHGGALRQQEGD | ||||||
Domain | 279-361 | PDZ 2 | ||||
Sequence: KVNLVLGDGRSLGLTIRGGAEYGLGIYITGVDPGSEAEGSGLKVGDQILEVNGRSFLNILHDEAVRLLKSSRHLILTVKDVGR | ||||||
Region | 502-540 | Disordered | ||||
Sequence: SMKARQPPGPGAGDTYSMVSYSDTGSSTGSHGTSTTVSS | ||||||
Compositional bias | 518-540 | Polar residues | ||||
Sequence: SMVSYSDTGSSTGSHGTSTTVSS | ||||||
Region | 565-663 | Disordered | ||||
Sequence: SVDDVRSTSQGLSSFKPLPRPPPLAQGNDLPLGQPRKLGREDLQPPSSMPSCSGTVFSAPQNRSPPAGTAPTPGTSSAQDLPSSPIYASVSPANPSSKR | ||||||
Compositional bias | 610-660 | Polar residues | ||||
Sequence: PSSMPSCSGTVFSAPQNRSPPAGTAPTPGTSSAQDLPSSPIYASVSPANPS | ||||||
Region | 684-717 | Disordered | ||||
Sequence: QSPPHLKSPSAEATVAGGCLLPPSPSGHPDQTGT | ||||||
Compositional bias | 742-763 | Polar residues | ||||
Sequence: PQTRTASTLSQLSDSGQTLSED | ||||||
Region | 742-815 | Disordered | ||||
Sequence: PQTRTASTLSQLSDSGQTLSEDSGVDAGEAEASAPGRGRQSVSTKSRSSKELPRNERPTDGANKPPGLLEPTST | ||||||
Domain | 816-899 | PDZ 3 | ||||
Sequence: LVRVKKSAATLGIAIEGGANTRQPLPRIVTIQRGGSAHNCGQLKVGHVILEVNGLTLRGKEHREAARIIAEAFKTKDRDYIDFL |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 4 isoforms produced by Alternative splicing.
Q9P202-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length907
- Mass (Da)96,558
- Last updated2018-03-28 v4
- Checksum78ABE7A305132B89
Q9P202-2
- Name2
- NoteMay be due to an intron retention.
Q9P202-3
- Name3
- Differences from canonical
- 1-383: Missing
Q9P202-4
- Name4
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A8V8TQ31 | A0A8V8TQ31_HUMAN | WHRN | 479 | ||
A0A8V8TNT0 | A0A8V8TNT0_HUMAN | WHRN | 355 | ||
A0A669KBJ1 | A0A669KBJ1_HUMAN | WHRN | 565 | ||
A0A669KBA5 | A0A669KBA5_HUMAN | WHRN | 20 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_012217 | 1-351 | in isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_012216 | 1-383 | in isoform 3 | |||
Sequence: Missing | ||||||
Sequence conflict | 225 | in Ref. 2; AK056190 | ||||
Sequence: P → S | ||||||
Alternative sequence | VSP_012218 | 281-345 | in isoform 2 | |||
Sequence: NLVLGDGRSLGLTIRGGAEYGLGIYITGVDPGSEAEGSGLKVGDQILEVNGRSFLNILHDEAVRL → SGVGKGGQPLRHRILPPNPEQQSCLEAARRGWFCPGSVFPQVCTEGWCFFFAFLFDLCSVCYNTG | ||||||
Alternative sequence | VSP_012219 | 346-907 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_012220 | 352-389 | in isoform 4 | |||
Sequence: LILTVKDVGRLPHARTTVDETKWIASSRIRETMANSAG → MHGSLEALLFLPQVTLSLAHAHLICSNAQLEMCVFPHR | ||||||
Compositional bias | 518-540 | Polar residues | ||||
Sequence: SMVSYSDTGSSTGSHGTSTTVSS | ||||||
Compositional bias | 610-660 | Polar residues | ||||
Sequence: PSSMPSCSGTVFSAPQNRSPPAGTAPTPGTSSAQDLPSSPIYASVSPANPS | ||||||
Sequence conflict | 716 | in Ref. 2; BAB14275 | ||||
Sequence: G → V | ||||||
Compositional bias | 742-763 | Polar residues | ||||
Sequence: PQTRTASTLSQLSDSGQTLSED |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB040959 EMBL· GenBank· DDBJ | BAA96050.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK022854 EMBL· GenBank· DDBJ | BAB14275.1 EMBL· GenBank· DDBJ | mRNA | ||
AK056190 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
AL110228 EMBL· GenBank· DDBJ | CAB53685.2 EMBL· GenBank· DDBJ | mRNA | ||
AL138895 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
KF459656 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
KF459658 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471090 EMBL· GenBank· DDBJ | EAW87422.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471090 EMBL· GenBank· DDBJ | EAW87423.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC142614 EMBL· GenBank· DDBJ | AAI42615.1 EMBL· GenBank· DDBJ | mRNA | ||
BC142684 EMBL· GenBank· DDBJ | AAI42685.1 EMBL· GenBank· DDBJ | mRNA |