MYO15A
Unconventional myosin-XV
Also known as: DFNB3, MYO15, MYO15_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UKN7
- Gene
- MYO15A
- Ensembl
- ENSG00000091536
- Chromosome
- 17
- Canonical length
- 3530 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
OverviewNCBI Gene
This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
3530 residues, UniProt reviewed canonical sequence.
>Q9UKN7|MYO15A
1 MAKEEDEEKK AKKGKKGKKA PEPEKPKRSL KGTSRLFMGF RDRTPKISKK GQFRSASAFF
61 WGLHTGPQKT KRKRKARTVL KSTSKLMTQM RMGKKKRAMK GKKPSFMVIR FPGRRGYGRL
121 RPRARSLSKA STAINWLTKK FLLKKAEESG SEQATVDAWL QRSSSRMGSR KLPFPSGAEI
181 LRPGGRLRRF PRSRSIYASG EPLGFLPFED EAPFHHSGSR KSLYGLEGFQ DLGEYYDYHR
241 DGDDYYDRQS LHRYEEQEPY LAGLGPYSPA WPPYGDHYYG YPPEDPYDYY HPDYYGGPFD
301 PGYTYGYGYD DYEPPYAPPS GYSSPYSYHD GYEGEAHPYG YYLDPYAPYD APYPPYDLPY
361 HTPYDVPYFD PYGVHYTVPY AEGVYGGGDE AIYPPEVPYF YPEESASAFV YPWVPPPIPS
421 PHNPYAHAMD DIAELEEPED AGVERQGTSF RLPSAAFFEQ QGMDKPARSK LSLIRKFRLF
481 PRPQVKLFGK EKLEVPLPPS LDIPLPLGDA DEEEDEEELP PVSAVPYGHP FWGFLTPRQR
541 NLQRALSAFG AHRGLGFGPE FGRPVPRPAT SLARFLKKTL SEKKPIARLR GSQKARAGGP
601 AVREAAYKRF GYKLAGMDPE KPGTPIVLRR AQPRARSSND ARRPPAPQPA PRTLSHWSAL
661 LSPPVPPRPP SSGPPPAPPL SPALSGLPRP ASPYGSLRRH PPPWAAPAHV PPAPQASWWA
721 FVEPPAVSPE VPPDLLAFPG PRPSFRGSRR RGAAFGFPGA SPRASRRRAW SPLASPQPSL
781 RSSPGLGYCS PLAPPSPQLS LRTGPFQPPF LPPARRPRSL QESPAPRRAA GRLGPPGSPL
841 PGSPRPPSPP LGLCHSPRRS SLNLPSRLPH TWRRLSEPPT RAVKPQVRLP FHRPPRAGAW
901 RAPLEHRESP REPEDSETPW TVPPLAPSWD VDMPPTQRPP SPWPGGAGSR RGFSRPPPVP
961 ENPFLQLLGP VPSPTLQPED PAADMTRVFL GRHHEPGPGQ LTKSAGPTPE KPEEEATLGD
1021 PQLPAETKPP TPAPPKDVTP PKDITPPKDV LPEQKTLRPS LSYPLAACDQ TRATWPPWHR
1081 WGTLPQAAAP LAPIRAPEPL PKGGERRQAA PGRFAVVMPR VQKLSSFQRV GPATLKPQVQ
1141 PIQDPKPRAC SLRWSCLWLR ADAYGPWPRV HTHPQSCHLG PGAACLSLRG SWEEVGPPSW
1201 RNKMHSIRNL PSMRFREQHG EDGVEDMTQL EDLQETTVLS NLKIRFERNL IYTYIGSILV
1261 SVNPYQMFGI YGPEQVQQYN GRALGENPPH LFAVANLAFA KMLDAKQNQC IIISGESGSG
1321 KTEATKLILR YLAAMNQKRE VMQQIKILEA TPLLESFGNA KTVRNDNSSR FGKFVEIFLE
1381 GGVISGAITS QYLLEKSRIV FQAKNERNYH IFYELLAGLP AQLRQAFSLQ EAETYYYLNQ
1441 GGNCEIAGKS DADDFRRLLA AMEVLGFSSE DQDSIFRILA SILHLGNVYF EKYETDAQEV
1501 ASVVSAREIQ AVAELLQISP EGLQKAITFK VTETMREKIF TPLTVESAVD ARDAIAKVLY
1561 ALLFSWLITR VNALVSPRQD TLSIAILDIY GFEDLSFNSF EQLCINYANE NLQYLFNKIV
1621 FQEEQEEYIR EQIDWQEITF ADNQPCINLI SLKPYGILRI LDDQCCFPQA TDHTFLQKCH
1681 YHHGANPLYS KPKMPLPEFT IKHYAGKVTY QVHKFLDKNH DQVRQDVLDL FVRSRTRVVA
1741 HLFSSHAPQA APQRLGKSSS VTRLYKAHTV AAKFQQSLLD LVEKMERCNP LFMRCLKPNH
1801 KKEPGLFEPD VVMAQLRYSG VLETVRIRKE GFPVRLPFQG FIDRYCCLVA LKHDLPANGD
1861 MCVSVLSRLC KVMPNMYRVG VSKLFLKEHL YQLLESMREH VLNLAALTLQ RCLRGFFIKR
1921 RFRSLRHKII LLQSRARGYL ARQRYQQMRR SLVKFRSLVH AYVSRRRYLK LRAEWRCQVE
1981 GALLWEQEEL SKREVVAVGH LEVPAELAGL LQAVAGLGLA QVPQVAPVRT PRLQAEPRVT
2041 LPLDINNYPM AKFVQCHFKE PAFGMLTVPL RTPLTQLPAE HHAEAVSIFK LILRFMGDPH
2101 LHGARENIFG NYIVQKGLAV PELRDEILAQ LANQVWHNHN AHNAERGWLL LAACLSGFAP
2161 SPCFNKYLLK FVSDYGRNGF QAVCQHRLMQ AMGRAQQQGS GAARTLPPTQ LEWTATYEKA
2221 SMALDVGCFN GDQFSCPVHS WSTGEEVAGD ILRHRGLADG WRGWTVAMKN GVQWAELAGH
2281 DYVLDLVSDL ELLRDFPRQK SYFIVGTEGP AASRGGPKVV FGNSWDSDED MSTRPQPQEH
2341 MPKVLDSDGY SSHNQDGTNG ETEAQRGTAT HQESDSLGEP AVPHKGLDCY LDSLFDPVLS
2401 YGDADLEKPT AIAYRMKGGG QPGGGSSSGT EDTPRRPPEP KPIPGLDAST LALQQAFIHK
2461 QAVLLAREMT LQATALQQQP LSAALRSLPA EKPPAPEAQP TSVGTGPPAK PVLLRATPKP
2521 LAPAPLAKAP RLPIKPVAAP VLAQDQASPE TTSPSPELVR YSTLNSEHFP QPTQQIKNIV
2581 RQYQQPFRGG RPEALRKDGG KVFMKRPDPH EEALMILKGQ MTHLAAAPGT QVSREAVALV
2641 KPVTSAPRPS MAPTSALPSR SLEPPEELTQ TRLHRLINPN FYGYQDAPWK IFLRKEVFYP
2701 KDSYSHPVQL DLLFRQILHD TLSEACLRIS EDERLRMKAL FAQNQLDTQK PLVTESVKRA
2761 VVSTARDTWE VYFSRIFPAT GSVGTGVQLL AVSHVGIKLL RMVKGGQEAG GQLRVLRAYS
2821 FADILFVTMP SQNMLEFNLA SEKVILFSAR AHQVKTLVDD FILELKKDSD YVVAVRNFLP
2881 EDPALLAFHK GDIIHLQPLE PPRVGYSAGC VVRRKVVYLE ELRRRGPDFG WRFGTIHGRV
2941 GRFPSELVQP AAAPDFLQLP TEPGRGRAAA VAAAVASAAA AQEVGRRREG PPVRARSADH
3001 GEDALALPPY TMLEFAQKYF RDPQRRPQDG LRLKSKEPRE SRTLEDMLCF TKTPLQESLI
3061 ELSDSSLSKM ATDMFLAVMR FMGDAPLKGQ SDLDVLCNLL KLCGDHEVMR DECYCQVVKQ
3121 ITDNTSSKQD SCQRGWRLLY IVTAYHSCSE VLHPHLTRFL QDVSRTPGLP FQGIAKACEQ
3181 NLQKTLRFGG RLELPSSIEL RAMLAGRSSK RQLFLLPGGL ERHLKIKTCT VALDVVEEIC
3241 AEMALTRPEA FNEYVIFVVT NRGQHVCPLS RRAYILDVAS EMEQVDGGYM LWFRRVLWDQ
3301 PLKFENELYV TMHYNQVLPD YLKGLFSSVP ASRPSEQLLQ QVSKLASLQH RAKDHFYLPS
3361 VREVQEYIPA QLYRTTAGST WLNLVSQHRQ QTQALSPHQA RAQFLGLLSA LPMFGSSFFF
3421 IQSCSNIAVP APCILAINHN GLNFLSTETH ELMVKFPLKE IQSTRTQRPT ANSSYPYVEI
3481 ALGDVAAQRT LQLQLEQGLE LCRVVAVHVE NLLSAHEKRL TLPPSEITLLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MYO15A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0
- Highest tissue expression
- 41 nTPM
Expression across tissuesHPA
Tissue
- pituitary gland: 41 nTPM
- testis: 3.6 nTPM
- cerebellum: 2 nTPM
- cerebral cortex: 1.7 nTPM
- epididymis: 1.4 nTPM
- hypothalamus: 1.1 nTPM
Single-cell type
- somatotrophs: 546 nCPM
- thyrotrophs: 202 nCPM
- early spermatids: 116 nCPM
- late spermatids: 96 nCPM
- lactotrophs: 89 nCPM
- gonadotrophs: 40 nCPM
Immune cell
- basophil: 1.4 nTPM
- neutrophil: 0.3 nTPM
- intermediate monocyte: 0.2 nTPM
- memory B-cell: 0.2 nTPM
- classical monocyte: 0.1 nTPM
- eosinophil: 0.1 nTPM
Brain region
- pons: 7.1 nTPM
- cerebral cortex: 6 nTPM
- hypothalamus: 5.5 nTPM
- medulla oblongata: 5.1 nTPM
- thalamus: 4.1 nTPM
- basal ganglia: 3.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MYO15A.
Disease | AllUniProt
Conditions MYO15A is implicated in, by any mechanism.
- Deafness, autosomal recessive, 3 (DFNB3) MIM:600316
Disease | GeneticClinVar
720 pathogenic / likely-pathogenic of 3,866 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive nonsyndromic hearing loss 3
- Rare genetic deafness
- MYO15A-related disorder
- Hearing impairment
- Nonsyndromic genetic hearing loss
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.8
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.65
- DepMap mean gene effect
- -0.23
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin filament organization
- endocytosis
- inner ear morphogenesis
- locomotory behavior
- response to light stimulus
- sensory perception of sound
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- IQ motif, EF-hand binding site
- FERM domain
- MyTH4 domain
- SH3 domain
- Myosin head, motor domain-like
- PH-like domain superfamily
- FERM central domain
- Band 4.1 domain
- P-loop containing nucleoside triphosphate hydrolase
- FERM superfamily, second domain
- SH3-like domain superfamily
- Kinesin motor domain superfamily
- MyTH4 domain superfamily
- Myosin-XV, FERM domain C-lobe
- Unconventional Myosin ATPase
- Unconventional myosin-XV-like domain
- Myosin head (motor domain)
- FERM central domain
- IQ calmodulin-binding motif
- MyTH4 domain
- Variant SH3 domain
- Unconventional myosin-XV-like domain
- Class XV myosin, motor domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MYO15A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MYO15A as an antibody target. Whether an autoantibody or antibody against MYO15A could matter depends on whether native MYO15A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MYO15A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MYO15A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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