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Q13402 (MYO7A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 166. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Unconventional myosin-VIIa
Gene names
Name:MYO7A
Synonyms:USH1B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2215 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity By similarity. Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Ref.12 Ref.13 Ref.14 Ref.15

Enzyme regulation

ATP hydrolysis is inhibited by Mg2+, already at a concentration of 0.4 mM. Ref.13

Subunit structure

Interacts with PLEKHB1 (via PH domain). Interacts with PCDH15. Interacts with RPE65. Interacts with TWF2 By similarity. Might homodimerize in a two headed molecule through the formation of a coiled-coil rod. May interact with CALM. Binds MYRIP and WHRN. Identified in a complex with USH1C and USH1G. Ref.11 Ref.14 Ref.15 Ref.29

Subcellular location

Cytoplasm. Cytoplasmcell cortex. Cytoplasmcytoskeleton. Note: In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region. Colocalizes with a subset of melanosomes in retinal pigment epithelium cells. Detected at the tip of cochlear hair cell stereocilia. The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin. Ref.12 Ref.15

Tissue specificity

Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain. Ref.12 Ref.14 Ref.15

Developmental stage

Detected in optic cup in 5.5 weeks-old embryos. Expressed in retinal pigment epithelium, cochlear and vestibular neuroepithelia, and olfactory epithelium at 8 weeks. At 19 weeks, present in both pigment epithelium and photoreceptor cells. At 24-28 weeks, expression in pigment epithelium and photoreceptor cells increases. Present in pigment epithelium and photoreceptor cells in adult. Ref.1 Ref.10

Involvement in disease

Usher syndrome 1B (USH1B) [MIM:276900]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.16 Ref.17 Ref.18 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.31 Ref.32

Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19 Ref.20

Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]: A 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. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.21 Ref.28 Ref.29 Ref.30

Defects in MYO7A may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Ref.33

Sequence similarities

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Contains 2 FERM domains.

Contains 5 IQ domains.

Contains 1 myosin motor domain.

Contains 2 MyTH4 domains.

Contains 1 SH3 domain.

Caution

Represents an unconventional myosin. This protein should not be confused with the conventional myosin-7 (MYH7).

Ontologies

Keywords
   Biological processHearing
   Cellular componentCytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDeafness
Disease mutation
Leber congenital amaurosis
Non-syndromic deafness
Retinitis pigmentosa
Usher syndrome
   DomainCoiled coil
Repeat
SH3 domain
   LigandActin-binding
ATP-binding
Calmodulin-binding
Nucleotide-binding
   Molecular functionMotor protein
Myosin
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactin filament-based movement

Inferred from direct assay Ref.13. Source: UniProtKB

auditory receptor cell stereocilium organization

Inferred from electronic annotation. Source: Ensembl

equilibrioception

Inferred from mutant phenotype Ref.8. Source: HGNC

eye photoreceptor cell development

Inferred by curator Ref.10. Source: UniProtKB

intracellular protein transport

Inferred from electronic annotation. Source: Ensembl

lysosome organization

Inferred from direct assay PubMed 16001398. Source: UniProtKB

metabolic process

Inferred from direct assay Ref.13. Source: GOC

phagolysosome assembly

Inferred from electronic annotation. Source: Ensembl

pigment granule transport

Inferred from electronic annotation. Source: Ensembl

post-embryonic organ morphogenesis

Inferred from electronic annotation. Source: Ensembl

sensory perception of light stimulus

Inferred from mutant phenotype PubMed 11398101. Source: HGNC

sensory perception of sound

Inferred from mutant phenotype Ref.8. Source: UniProtKB

visual perception

Inferred from mutant phenotype Ref.8. Source: UniProtKB

   Cellular_componentapical plasma membrane

Inferred from electronic annotation. Source: Ensembl

cell cortex

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytoplasm

Inferred from direct assay PubMed 23704327. Source: MGI

cytosol

Inferred from direct assay Ref.29. Source: UniProtKB

lysosomal membrane

Inferred from direct assay PubMed 16001398. Source: UniProtKB

melanosome

Inferred from electronic annotation. Source: Ensembl

myosin VII complex

Inferred from electronic annotation. Source: Ensembl

photoreceptor connecting cilium

Inferred from electronic annotation. Source: Ensembl

photoreceptor inner segment

Inferred from direct assay Ref.10. Source: UniProtKB

photoreceptor outer segment

Inferred from direct assay Ref.10. Source: UniProtKB

stereocilium

Inferred from electronic annotation. Source: Ensembl

synapse

Inferred from direct assay Ref.10. Source: UniProtKB

   Molecular_functionADP binding

Inferred from electronic annotation. Source: Ensembl

ATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

actin filament binding

Inferred from direct assay Ref.13. Source: UniProtKB

actin-dependent ATPase activity

Inferred from electronic annotation. Source: Ensembl

calmodulin binding

Inferred from mutant phenotype Ref.29. Source: UniProtKB

microfilament motor activity

Inferred from direct assay Ref.13. Source: UniProtKB

protein binding

Inferred from physical interaction Ref.11PubMed 23023331. Source: UniProtKB

spectrin binding

Inferred from direct assay PubMed 23704327. Source: MGI

Complete GO annotation...

Alternative products

This entry describes 8 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q13402-1)

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.
Isoform 2 (identifier: Q13402-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1524-1561: Missing.
     2117-2118: Missing.
Isoform 3 (identifier: Q13402-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1169-1200: DEIYCQISKQLTHNPSKSSYARGWILVSLCVG → SVPESLLVAEWCLCQPSKRLSQAWPGFGFAAS
     1201-2215: Missing.
Isoform 4 (identifier: Q13402-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1095-1095: E → EVLQ
     1169-1200: DEIYCQISKQLTHNPSKSSYARGWILVSLCVG → SVPESLLVAEWCLCQPSKRLSQAWPGFGFAAS
     1201-2215: Missing.
Isoform 5 (identifier: Q13402-5)

The sequence of this isoform differs from the canonical sequence as follows:
     284-360: Missing.
     519-564: Missing.
Isoform 6 (identifier: Q13402-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1096-1125: Missing.
Isoform 7 (identifier: Q13402-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1433-1470: Missing.
Isoform 8 (identifier: Q13402-8)

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.
     1524-1561: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 22152215Unconventional myosin-VIIa
PRO_0000123466

Regions

Domain65 – 741677Myosin motor
Domain745 – 76521IQ 1
Domain768 – 78821IQ 2
Domain791 – 81121IQ 3
Domain814 – 83421IQ 4
Domain837 – 85721IQ 5
Domain1017 – 1253237MyTH4 1
Domain1258 – 1602345FERM 1
Domain1603 – 167270SH3
Domain1747 – 1896150MyTH4 2
Domain1902 – 2205304FERM 2
Nucleotide binding158 – 1658ATP Probable
Region632 – 6398Actin-binding Probable
Coiled coil858 – 93578 Potential

Natural variations

Alternative sequence1 – 1111Missing in isoform 8.
VSP_053793
Alternative sequence284 – 36077Missing in isoform 5.
VSP_003353
Alternative sequence519 – 56446Missing in isoform 5.
VSP_003354
Alternative sequence10951E → EVLQ in isoform 4.
VSP_003355
Alternative sequence1096 – 112530Missing in isoform 6.
VSP_003358
Alternative sequence1169 – 120032DEIYC…SLCVG → SVPESLLVAEWCLCQPSKRL SQAWPGFGFAAS in isoform 3 and isoform 4.
VSP_003356
Alternative sequence1201 – 22151015Missing in isoform 3 and isoform 4.
VSP_003357
Alternative sequence1433 – 147038Missing in isoform 7.
VSP_003359
Alternative sequence1524 – 156138Missing in isoform 2 and isoform 8.
VSP_003360
Alternative sequence2117 – 21182Missing in isoform 2.
VSP_045848
Natural variant161L → S in USH1B; heterozygosity approaching 50%. Ref.31
Corresponds to variant rs1052030 [ dbSNP | Ensembl ].
VAR_009315
Natural variant251G → R in USH1B. Ref.18 Ref.31
VAR_009316
Natural variant261A → E in USH1B. Ref.26
VAR_024039
Natural variant671V → M in USH1B. Ref.26
VAR_024040
Natural variant901R → P in USH1B. Ref.26
VAR_024041
Natural variant1331H → D in USH1B; the deleterious effect remains to be proven. Ref.32
VAR_027301
Natural variant1341I → N in USH1B. Ref.26
VAR_024042
Natural variant1631G → R in USH1B. Ref.32
VAR_027302
Natural variant1641K → R in USH1B. Ref.32
VAR_027303
Natural variant1651T → M in USH1B. Ref.31 Ref.32
VAR_024043
Natural variant1931T → I in LCA. Ref.33
VAR_066861
Natural variant1981A → T in USH1B; is predicted to alter the normal splicing of exon 6. Ref.32
VAR_027304
Natural variant2041T → A in USH1B. Ref.32
VAR_027305
Natural variant2051I → V.
VAR_009317
Natural variant2121R → C in USH1B; frequent mutation. Ref.16
VAR_009318
Natural variant2121R → H in USH1B; frequent mutation. Ref.16
Corresponds to variant rs28934610 [ dbSNP | Ensembl ].
VAR_009319
Natural variant2141G → R in USH1B. Ref.17
VAR_009320
Natural variant218 – 2192Missing in USH1B.
VAR_009321
Natural variant2411R → C in USH1B. Ref.26
VAR_024044
Natural variant2411R → S in USH1B.
VAR_009322
Natural variant2441R → P in DFNB2. Ref.19
VAR_009323
Natural variant2691Missing in USH1B. Ref.26
VAR_024045
Natural variant3021R → H in USH1B; uncertain pathological significance. Ref.16
Corresponds to variant rs41298135 [ dbSNP | Ensembl ].
VAR_009324
Natural variant3971A → D in USH1B. Ref.17 Ref.27
VAR_009325
Natural variant4501E → Q in USH1B. Ref.16
VAR_009326
Natural variant4571A → V in USH1B. Ref.26
VAR_024046
Natural variant4581N → I in DFNA11. Ref.28
Corresponds to variant rs28934903 [ dbSNP | Ensembl ].
VAR_027306
Natural variant4681H → HQ in USH1B. Ref.16
VAR_009327
Natural variant5031P → L in USH1B. Ref.16
VAR_009328
Natural variant5191G → D in USH1B; the deleterious effect remains to be proven. Ref.26 Ref.32
VAR_024047
Natural variant5971V → I Rare polymorphism.
VAR_009329
Natural variant5991M → I in DFNB2. Ref.20
VAR_009330
Natural variant6021E → K.
Corresponds to variant rs2276282 [ dbSNP | Ensembl ].
VAR_056187
Natural variant6511L → P in USH1B; atypical. Ref.22
VAR_009331
Natural variant6791V → I.
Corresponds to variant rs35641839 [ dbSNP | Ensembl ].
VAR_056188
Natural variant7221G → R in DFNA11. Ref.30
VAR_027307
Natural variant7561R → W in USH1B. Ref.31
VAR_024048
Natural variant8261A → T in USH1B. Ref.17
VAR_009332
Natural variant8531R → C in DFNA11; disturb calmodulin/MYO7A binding; may result in impaired adaptation to environmental stimuli and progressive deterioration of hearing transduction in heterozygotes. Ref.29
VAR_027308
Natural variant886 – 8883Missing in DFNA11.
VAR_009333
Natural variant9551G → S in USH1B. Ref.18
VAR_009334
Natural variant9681E → D in USH1B. Ref.26 Ref.31
VAR_024049
Natural variant10871L → P in USH1B. Ref.23
VAR_009335
Natural variant11701E → K in USH1B. Ref.25 Ref.27 Ref.32
VAR_009336
Natural variant12401R → Q in USH1B. Ref.26 Ref.32
VAR_009337
Natural variant12881A → P in USH1B. Ref.26
VAR_009338
Natural variant13271E → K in USH1B. Ref.27
VAR_027309
Natural variant13431R → S in USH1B.
VAR_009339
Natural variant13461Missing in USH1B. Ref.26
VAR_024050
Natural variant1347 – 13515Missing in USH1B.
VAR_027310
Natural variant15661T → M in USH1B; unknown pathological significance. Ref.27 Ref.32
Corresponds to variant rs41298747 [ dbSNP | Ensembl ].
VAR_027311
Natural variant16021R → Q in USH1B; atypical. Ref.22
Corresponds to variant rs139889944 [ dbSNP | Ensembl ].
VAR_009340
Natural variant16281A → S in USH1B.
VAR_009341
Natural variant16661S → C. Ref.1 Ref.2
Corresponds to variant rs2276288 [ dbSNP | Ensembl ].
VAR_009343
Natural variant16661S → G.
VAR_027312
Natural variant17191Y → C in USH1B; unknown pathological significance. Ref.25 Ref.27 Ref.32
Corresponds to variant rs77625410 [ dbSNP | Ensembl ].
VAR_009344
Natural variant17401G → S.
Corresponds to variant rs12275336 [ dbSNP | Ensembl ].
VAR_027313
Natural variant17431R → W in USH1B. Ref.26
VAR_024051
Natural variant18581L → P in USH1B. Ref.26 Ref.32
VAR_024052
Natural variant18731R → W in USH1B. Ref.32
VAR_027314
Natural variant18831R → Q in USH1B. Ref.31
VAR_024053
Natural variant18871P → L in USH1B. Ref.26
VAR_024054
Natural variant19541L → I. Ref.1 Ref.2
Corresponds to variant rs948962 [ dbSNP | Ensembl ].
VAR_009345
Natural variant19621Missing in USH1B. Ref.32
VAR_027315
Natural variant19921F → I.
VAR_009346
Natural variant21371G → E in USH1B. Ref.18
VAR_009347
Natural variant21421D → N.
Corresponds to variant rs1132036 [ dbSNP | Ensembl ].
VAR_027316
Natural variant21631G → S in USH1B.
VAR_009348
Natural variant21871G → D in USH1B. Ref.26
VAR_024055

Experimental info

Sequence conflict1721L → P in AAA20909. Ref.4
Sequence conflict4701F → L in AAC50927. Ref.2
Sequence conflict4701F → L in AAC50722. Ref.2
Sequence conflict5761D → N in AAC51150. Ref.9
Sequence conflict7941F → S in AAC50927. Ref.2
Sequence conflict7941F → S in AAC50722. Ref.2
Sequence conflict7941F → S in AAC50218. Ref.6
Sequence conflict8731R → Q in AAC50927. Ref.2
Sequence conflict8731R → Q in AAC50722. Ref.2
Sequence conflict8731R → Q in AAC50218. Ref.6
Sequence conflict1073 – 10753KIY → RNS in AAC50218. Ref.6
Sequence conflict12371N → S in AAC50927. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 6, 2013. Version 2.
Checksum: 9F921DB43FD9BE1E

FASTA2,215254,390
        10         20         30         40         50         60 
MVILQQGDHV WMDLRLGQEF DVPIGAVVKL CDSGQVQVVD DEDNEHWISP QNATHIKPMH 

        70         80         90        100        110        120 
PTSVHGVEDM IRLGDLNEAG ILRNLLIRYR DHLIYTYTGS ILVAVNPYQL LSIYSPEHIR 

       130        140        150        160        170        180 
QYTNKKIGEM PPHIFAIADN CYFNMKRNSR DQCCIISGES GAGKTESTKL ILQFLAAISG 

       190        200        210        220        230        240 
QHSWIEQQVL EATPILEAFG NAKTIRNDNS SRFGKYIDIH FNKRGAIEGA KIEQYLLEKS 

       250        260        270        280        290        300 
RVCRQALDER NYHVFYCMLE GMSEDQKKKL GLGQASDYNY LAMGNCITCE GRVDSQEYAN 

       310        320        330        340        350        360 
IRSAMKVLMF TDTENWEISK LLAAILHLGN LQYEARTFEN LDACEVLFSP SLATAASLLE 

       370        380        390        400        410        420 
VNPPDLMSCL TSRTLITRGE TVSTPLSREQ ALDVRDAFVK GIYGRLFVWI VDKINAAIYK 

       430        440        450        460        470        480 
PPSQDVKNSR RSIGLLDIFG FENFAVNSFE QLCINFANEH LQQFFVRHVF KLEQEEYDLE 

       490        500        510        520        530        540 
SIDWLHIEFT DNQDALDMIA NKPMNIISLI DEESKFPKGT DTTMLHKLNS QHKLNANYIP 

       550        560        570        580        590        600 
PKNNHETQFG INHFAGIVYY ETQGFLEKNR DTLHGDIIQL VHSSRNKFIK QIFQADVAMG 

       610        620        630        640        650        660 
AETRKRSPTL SSQFKRSLEL LMRTLGACQP FFVRCIKPNE FKKPMLFDRH LCVRQLRYSG 

       670        680        690        700        710        720 
MMETIRIRRA GYPIRYSFVE FVERYRVLLP GVKPAYKQGD LRGTCQRMAE AVLGTHDDWQ 

       730        740        750        760        770        780 
IGKTKIFLKD HHDMLLEVER DKAITDRVIL LQKVIRGFKD RSNFLKLKNA ATLIQRHWRG 

       790        800        810        820        830        840 
HNCRKNYGLM RLGFLRLQAL HRSRKLHQQY RLARQRIIQF QARCRAYLVR KAFRHRLWAV 

       850        860        870        880        890        900 
LTVQAYARGM IARRLHQRLR AEYLWRLEAE KMRLAEEEKL RKEMSAKKAK EEAERKHQER 

       910        920        930        940        950        960 
LAQLAREDAE RELKEKEAAR RKKELLEQME RARHEPVNHS DMVDKMFGFL GTSGGLPGQE 

       970        980        990       1000       1010       1020 
GQAPSGFEDL ERGRREMVEE DLDAALPLPD EDEEDLSEYK FAKFAATYFQ GTTTHSYTRR 

      1030       1040       1050       1060       1070       1080 
PLKQPLLYHD DEGDQLAALA VWITILRFMG DLPEPKYHTA MSDGSEKIPV MTKIYETLGK 

      1090       1100       1110       1120       1130       1140 
KTYKRELQAL QGEGEAQLPE GQKKSSVRHK LVHLTLKKKS KLTEEVTKRL HDGESTVQGN 

      1150       1160       1170       1180       1190       1200 
SMLEDRPTSN LEKLHFIIGN GILRPALRDE IYCQISKQLT HNPSKSSYAR GWILVSLCVG 

      1210       1220       1230       1240       1250       1260 
CFAPSEKFVK YLRNFIHGGP PGYAPYCEER LRRTFVNGTR TQPPSWLELQ ATKSKKPIML 

      1270       1280       1290       1300       1310       1320 
PVTFMDGTTK TLLTDSATTA KELCNALADK ISLKDRFGFS LYIALFDKVS SLGSGSDHVM 

      1330       1340       1350       1360       1370       1380 
DAISQCEQYA KEQGAQERNA PWRLFFRKEV FTPWHSPSED NVATNLIYQQ VVRGVKFGEY 

      1390       1400       1410       1420       1430       1440 
RCEKEDDLAE LASQQYFVDY GSEMILERLL NLVPTYIPDR EITPLKTLEK WAQLAIAAHK 

      1450       1460       1470       1480       1490       1500 
KGIYAQRRTD AQKVKEDVVS YARFKWPLLF SRFYEAYKFS GPSLPKNDVI VAVNWTGVYF 

      1510       1520       1530       1540       1550       1560 
VDEQEQVLLE LSFPEIMAVS SSRECRVWLS LGCSDLGCAA PHSGWAGLTP AGPCSPCWSC 

      1570       1580       1590       1600       1610       1620 
RGAKTTAPSF TLATIKGDEY TFTSSNAEDI RDLVVTFLEG LRKRSKYVVA LQDNPNPAGE 

      1630       1640       1650       1660       1670       1680 
ESGFLSFAKG DLIILDHDTG EQVMNSGWAN GINERTKQRG DFPTDSVYVM PTVTMPPREI 

      1690       1700       1710       1720       1730       1740 
VALVTMTPDQ RQDVVRLLQL RTAEPEVRAK PYTLEEFSYD YFRPPPKHTL SRVMVSKARG 

      1750       1760       1770       1780       1790       1800 
KDRLWSHTRE PLKQALLKKL LGSEELSQEA CLAFIAVLKY MGDYPSKRTR SVNELTDQIF 

      1810       1820       1830       1840       1850       1860 
EGPLKAEPLK DEAYVQILKQ LTDNHIRYSE ERGWELLWLC TGLFPPSNIL LPHVQRFLQS 

      1870       1880       1890       1900       1910       1920 
RKHCPLAIDC LQRLQKALRN GSRKYPPHLV EVEAIQHKTT QIFHKVYFPD DTDEAFEVES 

      1930       1940       1950       1960       1970       1980 
STKAKDFCQN IATRLLLKSS EGFSLFVKIA DKVLSVPEND FFFDFVRHLT DWIKKARPIK 

      1990       2000       2010       2020       2030       2040 
DGIVPSLTYQ VFFMKKLWTT TVPGKDPMAD SIFHYYQELP KYLRGYHKCT REEVLQLGAL 

      2050       2060       2070       2080       2090       2100 
IYRVKFEEDK SYFPSIPKLL RELVPQDLIR QVSPDDWKRS IVAYFNKHAG KSKEEAKLAF 

      2110       2120       2130       2140       2150       2160 
LKLIFKWPTF GSAFFEVKQT TEPNFPEILL IAINKYGVSL IDPKTKDILT THPFTKISNW 

      2170       2180       2190       2200       2210 
SSGNTYFHIT IGNLVRGSKL LCETSLGYKM DDLLTSYISQ MLTAMSKQRG SRSGK 

« Hide

Isoform 2 [UniParc].

Checksum: FEEADA62DAE9229D
Show »

FASTA2,175250,245
Isoform 3 [UniParc].

Checksum: 6F3F743A0E78295D
Show »

FASTA1,200138,349
Isoform 4 [UniParc].

Checksum: 6E42F0F5BAE382E6
Show »

FASTA1,203138,689
Isoform 5 [UniParc].

Checksum: F846661CE342453B
Show »

FASTA2,092240,641
Isoform 6 [UniParc].

Checksum: D5D90A29BACA8CAD
Show »

FASTA2,185250,966
Isoform 7 [UniParc].

Checksum: 08B2E4E410321CAB
Show »

FASTA2,177249,961
Isoform 8 [UniParc].

Checksum: 7492760882361743
Show »

FASTA2,166249,165

References

« Hide 'large scale' references
[1]"Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia."
Weil D., Levy G., Sahly I., Levi-Acobas F., Blanchard S., El-Amraoui A., Crozet F., Philippe H., Abitbol M., Petit C.
Proc. Natl. Acad. Sci. U.S.A. 93:3232-3237(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 5; 6 AND 7), DEVELOPMENTAL STAGE, VARIANTS CYS-1666 AND ILE-1954.
Tissue: Retina.
[2]"Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B."
Chen Z.-Y., Hasson T., Kelley P.M., Schwender B.J., Schwartz M.F., Ramakrishnan M., Kimberling W.J., Mooseker M.S., Corey D.P.
Genomics 36:440-448(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4), VARIANTS CYS-1666 AND ILE-1954.
Tissue: Testis.
[3]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types."
Bement W.M., Hasson T., Wirth J.A., Cheney R.E., Mooseker M.S.
Proc. Natl. Acad. Sci. U.S.A. 91:6549-6553(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 166-196.
Tissue: Epithelium, Leukocyte and Liver.
[5]Erratum
Bement W.M., Hasson T., Wirth J.A., Cheney R.E., Mooseker M.S.
Proc. Natl. Acad. Sci. U.S.A. 91:11767-11767(1994) [PubMed] [Europe PMC] [Abstract]
[6]"Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B."
Hasson T., Heintzelman M.B., Santos-Sacchi J., Corey D.P., Mooseker M.S.
Proc. Natl. Acad. Sci. U.S.A. 92:9815-9819(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1075.
Tissue: Testis.
[7]"Shotgun sequencing of the human transcriptome with ORF expressed sequence tags."
Dias Neto E., Correa R.G., Verjovski-Almeida S., Briones M.R.S., Nagai M.A., da Silva W. Jr., Zago M.A., Bordin S., Costa F.F., Goldman G.H., Carvalho A.F., Matsukuma A., Baia G.S., Simpson D.H., Brunstein A., de Oliveira P.S.L., Bucher P., Jongeneel C.V. expand/collapse author list , O'Hare M.J., Soares F., Brentani R.R., Reis L.F.L., de Souza S.J., Simpson A.J.G.
Proc. Natl. Acad. Sci. U.S.A. 97:3491-3496(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-117 (ISOFORM 8).
[8]"Defective myosin VIIA gene responsible for Usher syndrome type 1B."
Weil D., Blanchard S., Kaplan J., Guilford P., Gibson F., Walsh J., Mburu P., Varela A., Levilliers J., Weston M.D., Kelley P.M., Kimberling W.J., Wagenaar M., Levi-Acobas F., Larget-Piet D., Munnich A., Steel K.P., Brown S.D.M., Petit C.
Nature 374:60-61(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-564 (ISOFORM 1), VARIANTS USH1B.
Tissue: Retina.
[9]"The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)."
Kelley P.M., Weston M.D., Chen Z.-Y., Orten D.J., Hasson T., Overbeck L.D., Pinnt J., Talmadge C.B., Ing P., Mooseker M.S., Corey D.P., Sumegi J., Kimberling W.J.
Genomics 40:73-79(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 79-578.
[10]"Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells."
El-Amraoui A., Sahly I., Picaud S., Sahel J., Abitbol M., Petit C.
Hum. Mol. Genet. 5:1171-1178(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: DEVELOPMENTAL STAGE.
[11]"MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes."
El-Amraoui A., Schonn J.-S., Kuessel-Andermann P., Blanchard S., Desnos C., Henry J.-P., Wolfrum U., Darchen F., Petit C.
EMBO Rep. 3:463-470(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH MYRIP.
[12]"Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1B."
Gibbs D., Diemer T., Khanobdee K., Hu J., Bok D., Williams D.S.
Invest. Ophthalmol. Vis. Sci. 51:1130-1135(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[13]"Functional characterization of the human myosin-7a motor domain."
Heissler S.M., Manstein D.J.
Cell. Mol. Life Sci. 69:299-311(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, ENZYME REGULATION.
[14]"The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65."
Lopes V.S., Gibbs D., Libby R.T., Aleman T.S., Welch D.L., Lillo C., Jacobson S.G., Radu R.A., Steel K.P., Williams D.S.
Hum. Mol. Genet. 20:2560-2570(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH RPE65.
[15]"Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction."
Grati M., Kachar B.
Proc. Natl. Acad. Sci. U.S.A. 108:11476-11481(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN A COMPLEX WITH USH1C AND USH1G, TISSUE SPECIFICITY.
[16]"Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients."
Weston M.D., Kelley P.M., Overbeck L.D., Wagenaar M., Orten D.J., Hasson T., Chen Z.-Y., Corey D.P., Mooseker M.S., Sumegi J., Cremers C., Moeller C., Jacobson S.G., Gorin M.B., Kimberling W.J.
Am. J. Hum. Genet. 59:1074-1083(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1B CYS-212; HIS-212; HIS-302; GLN-450; GLN-468 INS AND LEU-503.
[17]"Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins."
Adato A., Weil D., Kalinski H., Pel-Or Y., Ayadi H., Petit C., Korostishevsky M., Bonne-Tamir B.
Am. J. Hum. Genet. 61:813-821(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1B ARG-214; ASP-397 AND THR-826, POLYMORPHISM.
[18]"Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB."
Levy G., Levi-Acobas F., Blanchard S., Gerber S., Larget-Piet D., Chenal V., Liu X.-Z., Newton V., Steel K.P., Brown S.D.M., Munnich A., Kaplan J., Petit C., Weil D.
Hum. Mol. Genet. 6:111-116(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1B ARG-25; SER-955 AND GLU-2137, POLYMORPHISM.
[19]"Mutations in the myosin VIIA gene cause non-syndromic recessive deafness."
Liu X.-Z., Walsh J., Mburu P., Kendrick-Jones J., Cope M.J., Steel K.P., Brown S.D.M.
Nat. Genet. 16:188-190(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNB2 PRO-244.
[20]"The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene."
Weil D., Kuessel P., Blanchard S., Levy G., Levi-Acobas F., Drira M., Ayadi H., Petit C.
Nat. Genet. 16:191-193(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNB2 ILE-599.
[21]"Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene."
Liu X.-Z., Walsh J., Tamagawa Y., Kitamura K., Nishizawa M., Steel K.P., Brown S.D.M.
Nat. Genet. 17:268-269(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNA11 886-ALA--LYS-888 DEL.
[22]"Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome."
Liu X.-Z., Hope C., Walsh J., Newton V., Ke X.M., Liang C.Y., Xu L.R., Zhou J.M., Trump D., Steel K.P., Bundey S., Brown S.D.M.
Am. J. Hum. Genet. 63:909-912(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1B PRO-651 AND GLN-1602.
[23]"Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance."
Adato A., Kalinski H., Weil D., Chaib H., Korostishevsky M., Bonne-Tamir B.
Am. J. Hum. Genet. 65:261-265(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT USH1B PRO-1087.
[24]"Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity."
Janecke A.R., Meins M., Sadeghi M., Grundmann K., Apfelstedt-Sylla E., Zrenner E., Rosenberg T., Gal A.
Hum. Mutat. 13:133-140(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1B, POLYMORPHISM.
[25]"Identification of three novel mutations in the MYO7A gene."
Cuevas J.M., Espinos C., Millan J.M., Sanchez F., Trujillo M.J., Ayuso C., Beneyto M., Najera C.
Hum. Mutat. 14:181-181(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1B LYS-1170 AND CYS-1719.
[26]"Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I."
Bharadwaj A.K., Kasztejna J.P., Huq S., Berson E.L., Dryja T.P.
Exp. Eye Res. 71:173-181(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1B GLU-26; MET-67; PRO-90; ASN-134; CYS-241; LYS-269 DEL; VAL-457; ASP-519; ASP-968; GLN-1240; PRO-1288; PHE-1346 DEL; TRP-1743; PRO-1858; LEU-1887 AND ASP-2187.
[27]"Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively."
Najera C., Beneyto M., Blanca J., Aller E., Fontcuberta A., Millan J.M., Ayuso C.
Hum. Mutat. 20:76-77(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1B ASP-397; LYS-1170; LYS-1327; 1347-ARG--PHE-1351 DEL; MET-1566 AND CYS-1719.
[28]"Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)."
Luijendijk M.W.J., Van Wijk E., Bischoff A.M.L.C., Krieger E., Huygen P.L.M., Pennings R.J.E., Brunner H.G., Cremers C.W.R.J., Cremers F.P.M., Kremer H.
Hum. Genet. 115:149-156(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNA11 ILE-458.
[29]"Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)."
Bolz H., Bolz S.-S., Schade G., Kothe C., Mohrmann G., Hess M., Gal A.
Hum. Mutat. 24:274-275(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNA11 CYS-853, INTERACTION WITH CALM, CHARACTERIZATION OF VARIANT DFNA11 CYS-853.
[30]"Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation."
Street V.A., Kallman J.C., Kiemele K.L.
J. Med. Genet. 41:E62-E62(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNA11 ARG-722.
[31]"Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population."
Ouyang X.M., Yan D., Du L.L., Hejtmancik J.F., Jacobson S.G., Nance W.E., Li A.R., Angeli S., Kaiser M., Newton V., Brown S.D.M., Balkany T., Liu X.Z.
Hum. Genet. 116:292-299(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1B SER-16; ARG-25; MET-165; TRP-756; ASP-968 AND GLN-1883.
[32]"Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%."
Roux A.-F., Faugere V., Le Guedard S., Pallares-Ruiz N., Vielle A., Chambert S., Marlin S., Hamel C., Gilbert B., Malcolm S., Claustres M.
J. Med. Genet. 43:763-768(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1B ASP-133; ARG-163; ARG-164; MET-165; THR-198; ALA-204; ASP-519; LYS-1170; GLN-1240; PRO-1858; TRP-1873 AND PHE-1962 DEL, VARIANTS MET-1566 AND CYS-1719.
[33]"Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis."
Wang X., Wang H., Cao M., Li Z., Chen X., Patenia C., Gore A., Abboud E.B., Al-Rajhi A.A., Lewis A.R., Lupski J.R., Mardon G., Zhang K., Muzny D., Gibbs R.A., Chen R.
Hum. Mutat. 32:1450-1459(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LCA ILE-193.
+Additional computationally mapped references.

Web resources

Hereditary hearing loss homepage

Gene page

Mutations of the MYO7A gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U39226 mRNA. Translation: AAB03679.1.
U55208 mRNA. Translation: AAC50927.1.
U55209 mRNA. Translation: AAC50722.1.
AP000752 Genomic DNA. No translation available.
AP001855 Genomic DNA. No translation available.
L29146 mRNA. Translation: AAA20909.1.
U34227 mRNA. Translation: AAC50218.1.
BF869194 mRNA. No translation available.
AH006665 Genomic DNA. Translation: AAC51150.1.
CCDSCCDS53683.1. [Q13402-1]
CCDS53684.1. [Q13402-2]
PIRA59255.
A59257.
I61697.
RefSeqNP_000251.3. NM_000260.3. [Q13402-1]
NP_001120651.2. NM_001127179.2.
NP_001120652.1. NM_001127180.1. [Q13402-2]
UniGeneHs.370421.

3D structure databases

ProteinModelPortalQ13402.
SMRQ13402. Positions 27-935, 993-1686, 1712-2202.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110731. 12 interactions.
IntActQ13402. 1 interaction.
MINTMINT-1895479.
STRING9606.ENSP00000386331.

PTM databases

PhosphoSiteQ13402.

Polymorphism databases

DMDM460018219.

Proteomic databases

MaxQBQ13402.
PaxDbQ13402.
PRIDEQ13402.

Protocols and materials databases

DNASU4647.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000409619; ENSP00000386635; ENSG00000137474.
ENST00000409709; ENSP00000386331; ENSG00000137474. [Q13402-1]
ENST00000458637; ENSP00000392185; ENSG00000137474. [Q13402-2]
ENST00000571155; ENSP00000459665; ENSG00000261910. [Q13402-1]
ENST00000575980; ENSP00000459105; ENSG00000261910. [Q13402-2]
GeneID4647.
KEGGhsa:4647.
UCSCuc001oyb.2. human. [Q13402-1]

Organism-specific databases

CTD4647.
GeneCardsGC11P076839.
GeneReviewsMYO7A.
H-InvDBHIX0035966.
HGNCHGNC:7606. MYO7A.
HPACAB034059.
HPA028918.
MIM276900. phenotype.
276903. gene.
600060. phenotype.
601317. phenotype.
neXtProtNX_Q13402.
Orphanet90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBPA31411.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5022.
HOGENOMHOG000007836.
HOVERGENHBG052557.
InParanoidQ13402.
KOK10359.
OMAVAHINSA.
OrthoDBEOG7QG433.
PhylomeDBQ13402.
TreeFamTF335306.

Gene expression databases

ArrayExpressQ13402.
BgeeQ13402.
CleanExHS_MYO7A.
GenevestigatorQ13402.

Family and domain databases

Gene3D1.20.80.10. 2 hits.
2.30.29.30. 1 hit.
InterProIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR018979. FERM_N.
IPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR000857. MyTH4_dom.
IPR027417. P-loop_NTPase.
IPR011993. PH_like_dom.
IPR001452. SH3_domain.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamPF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
PF00612. IQ. 3 hits.
PF00063. Myosin_head. 1 hit.
PF00784. MyTH4. 2 hits.
[Graphical view]
PRINTSPR00193. MYOSINHEAVY.
SMARTSM00295. B41. 2 hits.
SM00015. IQ. 4 hits.
SM00242. MYSc. 1 hit.
SM00139. MyTH4. 2 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF47031. SSF47031. 2 hits.
SSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 2 hits.
SSF54236. SSF54236. 2 hits.
PROSITEPS50057. FERM_3. 2 hits.
PS50096. IQ. 3 hits.
PS51456. MYOSIN_MOTOR. 1 hit.
PS51016. MYTH4. 2 hits.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMYO7A.
GenomeRNAi4647.
NextBio17912.
PROQ13402.
SOURCESearch...

Entry information

Entry nameMYO7A_HUMAN
AccessionPrimary (citable) accession number: Q13402
Secondary accession number(s): B9A011 expand/collapse secondary AC list , F8VUN5, P78427, Q13321, Q14785, Q92821, Q92822
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: March 6, 2013
Last modified: July 9, 2014
This is version 166 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM