Q13402 (MYO7A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Unconventional myosin-VIIa

Gene names

Name:	MYO7A
Synonyms:	USH1B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2215 AA.
Sequence status	Complete.
Protein existence	Evidence 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.11 Ref.12 Ref.13 Ref.14
Enzyme regulation	ATP hydrolysis is inhibited by Mg2+, already at a concentration of 0.4 mM. Ref.12
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.10 Ref.13 Ref.14 Ref.28
Subcellular location	Cytoplasm. Cytoplasm › cell cortex. Cytoplasm › cytoskeleton. 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.11 Ref.14
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.11 Ref.13 Ref.14
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.9
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.7 Ref.15 Ref.16 Ref.17 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.30 Ref.31 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.18 Ref.19 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.20 Ref.27 Ref.28 Ref.29 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.32
Sequence similarities	Contains 2 FERM domains. Contains 5 IQ domains. Contains 1 myosin head-like domain. Contains 2 MyTH4 domains. Contains 1 SH3 domain.
Caution	Represents a unconventional myosin. This protein should not be confused with the conventional myosin-7 (MYH7).

Ontologies

Keywords
Biological process	Hearing
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Disease mutation Leber congenital amaurosis Non-syndromic deafness Retinitis pigmentosa Usher syndrome
Domain	Coiled coil Repeat SH3 domain
Ligand	ATP-binding Actin-binding Calmodulin-binding Nucleotide-binding
Molecular function	Motor protein Myosin
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	actin filament-based movement Inferred from direct assay Ref.12. Source: UniProtKB auditory receptor cell stereocilium organization Inferred from electronic annotation. Source: Compara equilibrioception Inferred from mutant phenotype Ref.7. Source: HGNC eye photoreceptor cell development Inferred by curator Ref.9. Source: UniProtKB intracellular protein transport Inferred from electronic annotation. Source: Compara lysosome organization Inferred from direct assay PubMed 16001398. Source: UniProtKB phagolysosome assembly Inferred from electronic annotation. Source: Compara pigment granule transport Inferred from electronic annotation. Source: Compara post-embryonic organ morphogenesis Inferred from electronic annotation. Source: Compara sensory perception of sound Inferred from mutant phenotype Ref.7. Source: UniProtKB visual perception Inferred from mutant phenotype Ref.7. Source: UniProtKB
Cellular_component	apical plasma membrane Inferred from electronic annotation. Source: Compara cell cortex Inferred from electronic annotation. Source: UniProtKB-SubCell cytosol Inferred from direct assay Ref.28. Source: UniProtKB lysosomal membrane Inferred from direct assay PubMed 16001398. Source: UniProtKB melanosome Inferred from electronic annotation. Source: Compara myosin complex Inferred from electronic annotation. Source: UniProtKB-KW photoreceptor connecting cilium Inferred from electronic annotation. Source: Compara photoreceptor inner segment Inferred from direct assay Ref.9. Source: UniProtKB photoreceptor outer segment Inferred from direct assay Ref.9. Source: UniProtKB stereocilium Inferred from electronic annotation. Source: Compara synapse Inferred from direct assay Ref.9. Source: UniProtKB
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW actin filament binding Inferred from direct assay Ref.12. Source: UniProtKB calmodulin binding Inferred from mutant phenotype Ref.28. Source: UniProtKB microfilament motor activity Inferred from direct assay Ref.12. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 7 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2215	2215	Unconventional myosin-VIIa		PRO_0000123466
Regions
	Domain	1 – 729	729	Myosin head-like
	Domain	745 – 765	21	IQ 1
	Domain	768 – 788	21	IQ 2
	Domain	791 – 811	21	IQ 3
	Domain	814 – 834	21	IQ 4
	Domain	837 – 857	21	IQ 5
	Domain	1017 – 1253	237	MyTH4 1
	Domain	1258 – 1602	345	FERM 1
	Domain	1603 – 1672	70	SH3
	Domain	1747 – 1896	150	MyTH4 2
	Domain	1902 – 2205	304	FERM 2
	Nucleotide binding	158 – 165	8	ATP Probable
	Region	632 – 639	8	Actin-binding Probable
	Coiled coil	858 – 935	78	Potential
Amino acid modifications
	Modified residue	965	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	284 – 360	77	Missing in isoform 5.		VSP_003353
	Alternative sequence	519 – 564	46	Missing in isoform 5.		VSP_003354
	Alternative sequence	1095	1	E → EVLQ in isoform 4.		VSP_003355
	Alternative sequence	1096 – 1125	30	Missing in isoform 6.		VSP_003358
	Alternative sequence	1169 – 1200	32	DEIYC…SLCVG → SVPESLLVAEWCLCQPSKRL SQAWPGFGFAAS in isoform 3 and isoform 4.		VSP_003356
	Alternative sequence	1201 – 2215	1015	Missing in isoform 3 and isoform 4.		VSP_003357
	Alternative sequence	1433 – 1470	38	Missing in isoform 7.		VSP_003359
	Alternative sequence	1524 – 1561	38	Missing in isoform 2.		VSP_003360
	Alternative sequence	2117 – 2118	2	Missing in isoform 2.		VSP_045848
	Natural variant	16	1	L → S in USH1B; heterozygosity approaching 50%. Ref.30 Corresponds to variant rs1052030 [ dbSNP | Ensembl ].		VAR_009315
	Natural variant	25	1	G → R in USH1B. Ref.17 Ref.30		VAR_009316
	Natural variant	26	1	A → E in USH1B. Ref.25		VAR_024039
	Natural variant	67	1	V → M in USH1B. Ref.25		VAR_024040
	Natural variant	90	1	R → P in USH1B. Ref.25		VAR_024041
	Natural variant	133	1	H → D in USH1B; the deleterious effect remains to be proven. Ref.31		VAR_027301
	Natural variant	134	1	I → N in USH1B. Ref.25		VAR_024042
	Natural variant	163	1	G → R in USH1B. Ref.31		VAR_027302
	Natural variant	164	1	K → R in USH1B. Ref.31		VAR_027303
	Natural variant	165	1	T → M in USH1B. Ref.30 Ref.31		VAR_024043
	Natural variant	193	1	T → I in LCA. Ref.32		VAR_066861
	Natural variant	198	1	A → T in USH1B; is predicted to alter the normal splicing of exon 6. Ref.31		VAR_027304
	Natural variant	204	1	T → A in USH1B. Ref.31		VAR_027305
	Natural variant	205	1	I → V.		VAR_009317
	Natural variant	212	1	R → C in USH1B; frequent mutation. Ref.15		VAR_009318
	Natural variant	212	1	R → H in USH1B; frequent mutation. Ref.15 Corresponds to variant rs28934610 [ dbSNP | Ensembl ].		VAR_009319
	Natural variant	214	1	G → R in USH1B. Ref.16		VAR_009320
	Natural variant	218 – 219	2	Missing in USH1B.		VAR_009321
	Natural variant	241	1	R → C in USH1B. Ref.25		VAR_024044
	Natural variant	241	1	R → S in USH1B.		VAR_009322
	Natural variant	244	1	R → P in DFNB2. Ref.18		VAR_009323
	Natural variant	269	1	Missing in USH1B. Ref.25		VAR_024045
	Natural variant	302	1	R → H in USH1B; uncertain pathological significance. Ref.15 Corresponds to variant rs41298135 [ dbSNP | Ensembl ].		VAR_009324
	Natural variant	397	1	A → D in USH1B. Ref.16 Ref.26		VAR_009325
	Natural variant	450	1	E → Q in USH1B. Ref.15		VAR_009326
	Natural variant	457	1	A → V in USH1B. Ref.25		VAR_024046
	Natural variant	458	1	N → I in DFNA11. Ref.27 Corresponds to variant rs28934903 [ dbSNP | Ensembl ].		VAR_027306
	Natural variant	468	1	H → HQ in USH1B. Ref.15		VAR_009327
	Natural variant	503	1	P → L in USH1B. Ref.15		VAR_009328
	Natural variant	519	1	G → D in USH1B; the deleterious effect remains to be proven. Ref.25 Ref.31		VAR_024047
	Natural variant	597	1	V → I Rare polymorphism.		VAR_009329
	Natural variant	599	1	M → I in DFNB2. Ref.19		VAR_009330
	Natural variant	602	1	E → K. Corresponds to variant rs2276282 [ dbSNP | Ensembl ].		VAR_056187
	Natural variant	651	1	L → P in USH1B; atypical. Ref.21		VAR_009331
	Natural variant	679	1	V → I. Corresponds to variant rs35641839 [ dbSNP | Ensembl ].		VAR_056188
	Natural variant	722	1	G → R in DFNA11. Ref.29		VAR_027307
	Natural variant	756	1	R → W in USH1B. Ref.30		VAR_024048
	Natural variant	826	1	A → T in USH1B. Ref.16		VAR_009332
	Natural variant	853	1	R → C in DFNA11; disturb calmodulin/MYO7A binding; may result in impaired adaptation to environmental stimuli and progressive deterioration of hearing transduction in heterozygotes. Ref.28		VAR_027308
	Natural variant	886 – 888	3	Missing in DFNA11.		VAR_009333
	Natural variant	955	1	G → S in USH1B. Ref.17		VAR_009334
	Natural variant	968	1	E → D in USH1B. Ref.25 Ref.30		VAR_024049
	Natural variant	1087	1	L → P in USH1B. Ref.22		VAR_009335
	Natural variant	1170	1	E → K in USH1B. Ref.24 Ref.26 Ref.31		VAR_009336
	Natural variant	1240	1	R → Q in USH1B. Ref.25 Ref.31		VAR_009337
	Natural variant	1288	1	A → P in USH1B. Ref.25		VAR_009338
	Natural variant	1327	1	E → K in USH1B. Ref.26		VAR_027309
	Natural variant	1343	1	R → S in USH1B.		VAR_009339
	Natural variant	1346	1	Missing in USH1B. Ref.25		VAR_024050
	Natural variant	1347 – 1351	5	Missing in USH1B.		VAR_027310
	Natural variant	1566	1	T → M in USH1B; unknown pathological significance. Ref.26 Ref.31 Corresponds to variant rs41298747 [ dbSNP | Ensembl ].		VAR_027311
	Natural variant	1602	1	R → Q in USH1B; atypical. Ref.21		VAR_009340
	Natural variant	1628	1	A → S in USH1B.		VAR_009341
	Natural variant	1666	1	S → C. Ref.1 Ref.2 Corresponds to variant rs2276288 [ dbSNP | Ensembl ].		VAR_009343
	Natural variant	1666	1	S → G.		VAR_027312
	Natural variant	1719	1	Y → C in USH1B; unknown pathological significance. Ref.24 Ref.26 Ref.31		VAR_009344
	Natural variant	1740	1	G → S. Corresponds to variant rs12275336 [ dbSNP | Ensembl ].		VAR_027313
	Natural variant	1743	1	R → W in USH1B. Ref.25		VAR_024051
	Natural variant	1858	1	L → P in USH1B. Ref.25 Ref.31		VAR_024052
	Natural variant	1873	1	R → W in USH1B. Ref.31		VAR_027314
	Natural variant	1883	1	R → Q in USH1B. Ref.30		VAR_024053
	Natural variant	1887	1	P → L in USH1B. Ref.25		VAR_024054
	Natural variant	1954	1	L → I. Ref.1 Ref.2 Corresponds to variant rs948962 [ dbSNP | Ensembl ].		VAR_009345
	Natural variant	1962	1	Missing in USH1B. Ref.31		VAR_027315
	Natural variant	1992	1	F → I.		VAR_009346
	Natural variant	2137	1	G → E in USH1B. Ref.17		VAR_009347
	Natural variant	2142	1	D → N. Corresponds to variant rs1132036 [ dbSNP | Ensembl ].		VAR_027316
	Natural variant	2163	1	G → S in USH1B.		VAR_009348
	Natural variant	2187	1	G → D in USH1B. Ref.25		VAR_024055
Experimental info
	Sequence conflict	172	1	L → P in AAA20909. Ref.4
	Sequence conflict	470	1	F → L in AAC50927. Ref.2
	Sequence conflict	470	1	F → L in AAC50722. Ref.2
	Sequence conflict	576	1	D → N in AAC51150. Ref.8
	Sequence conflict	794	1	F → S in AAC50927. Ref.2
	Sequence conflict	794	1	F → S in AAC50722. Ref.2
	Sequence conflict	794	1	F → S in AAC50218. Ref.6
	Sequence conflict	873	1	R → Q in AAC50927. Ref.2
	Sequence conflict	873	1	R → Q in AAC50722. Ref.2
	Sequence conflict	873	1	R → Q in AAC50218. Ref.6
	Sequence conflict	1073 – 1075	3	KIY → RNS in AAC50218. Ref.6
	Sequence conflict	1237	1	N → S in AAC50927. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 6, 2013. Version 2. Checksum: 9F921DB43FD9BE1E	FASTA	2,215	254,390
	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
	Isoform 2 [UniParc]. Checksum: FEEADA62DAE9229D	FASTA	2,175	250,245
	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 SSRGAKTTAP SFTLATIKGD EYTFTSSNAE DIRDLVVTFL 1570 1580 1590 1600 1610 1620 EGLRKRSKYV VALQDNPNPA GEESGFLSFA KGDLIILDHD TGEQVMNSGW ANGINERTKQ 1630 1640 1650 1660 1670 1680 RGDFPTDSVY VMPTVTMPPR EIVALVTMTP DQRQDVVRLL QLRTAEPEVR AKPYTLEEFS 1690 1700 1710 1720 1730 1740 YDYFRPPPKH TLSRVMVSKA RGKDRLWSHT REPLKQALLK KLLGSEELSQ EACLAFIAVL 1750 1760 1770 1780 1790 1800 KYMGDYPSKR TRSVNELTDQ IFEGPLKAEP LKDEAYVQIL KQLTDNHIRY SEERGWELLW 1810 1820 1830 1840 1850 1860 LCTGLFPPSN ILLPHVQRFL QSRKHCPLAI DCLQRLQKAL RNGSRKYPPH LVEVEAIQHK 1870 1880 1890 1900 1910 1920 TTQIFHKVYF PDDTDEAFEV ESSTKAKDFC QNIATRLLLK SSEGFSLFVK IADKVLSVPE 1930 1940 1950 1960 1970 1980 NDFFFDFVRH LTDWIKKARP IKDGIVPSLT YQVFFMKKLW TTTVPGKDPM ADSIFHYYQE 1990 2000 2010 2020 2030 2040 LPKYLRGYHK CTREEVLQLG ALIYRVKFEE DKSYFPSIPK LLRELVPQDL IRQVSPDDWK 2050 2060 2070 2080 2090 2100 RSIVAYFNKH AGKSKEEAKL AFLKLIFKWP TFGSAFFEQT TEPNFPEILL IAINKYGVSL 2110 2120 2130 2140 2150 2160 IDPKTKDILT THPFTKISNW SSGNTYFHIT IGNLVRGSKL LCETSLGYKM DDLLTSYISQ 2170 MLTAMSKQRG SRSGK
	Isoform 3 [UniParc]. Checksum: 6F3F743A0E78295D	FASTA	1,200	138,349
	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 GILRPALRSV PESLLVAEWC LCQPSKRLSQ AWPGFGFAAS
	Isoform 4 [UniParc]. Checksum: 6E42F0F5BAE382E6	FASTA	1,203	138,689
	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 QGEGEVLQAQ LPEGQKKSSV RHKLVHLTLK KKSKLTEEVT KRLHDGESTV 1150 1160 1170 1180 1190 1200 QGNSMLEDRP TSNLEKLHFI IGNGILRPAL RSVPESLLVA EWCLCQPSKR LSQAWPGFGF AAS
	Isoform 5 [UniParc]. Checksum: F846661CE342453B	FASTA	2,092	240,641
	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 LAMVNPPDLM SCLTSRTLIT 310 320 330 340 350 360 RGETVSTPLS REQALDVRDA FVKGIYGRLF VWIVDKINAA IYKPPSQDVK NSRRSIGLLD 370 380 390 400 410 420 IFGFENFAVN SFEQLCINFA NEHLQQFFVR HVFKLEQEEY DLESIDWLHI EFTDNQDALD 430 440 450 460 470 480 MIANKPMNII SLIDEESKFP KFLEKNRDTL HGDIIQLVHS SRNKFIKQIF QADVAMGAET 490 500 510 520 530 540 RKRSPTLSSQ FKRSLELLMR TLGACQPFFV RCIKPNEFKK PMLFDRHLCV RQLRYSGMME 550 560 570 580 590 600 TIRIRRAGYP IRYSFVEFVE RYRVLLPGVK PAYKQGDLRG TCQRMAEAVL GTHDDWQIGK 610 620 630 640 650 660 TKIFLKDHHD MLLEVERDKA ITDRVILLQK VIRGFKDRSN FLKLKNAATL IQRHWRGHNC 670 680 690 700 710 720 RKNYGLMRLG FLRLQALHRS RKLHQQYRLA RQRIIQFQAR CRAYLVRKAF RHRLWAVLTV 730 740 750 760 770 780 QAYARGMIAR RLHQRLRAEY LWRLEAEKMR LAEEEKLRKE MSAKKAKEEA ERKHQERLAQ 790 800 810 820 830 840 LAREDAEREL KEKEAARRKK ELLEQMERAR HEPVNHSDMV DKMFGFLGTS GGLPGQEGQA 850 860 870 880 890 900 PSGFEDLERG RREMVEEDLD AALPLPDEDE EDLSEYKFAK FAATYFQGTT THSYTRRPLK 910 920 930 940 950 960 QPLLYHDDEG DQLAALAVWI TILRFMGDLP EPKYHTAMSD GSEKIPVMTK IYETLGKKTY 970 980 990 1000 1010 1020 KRELQALQGE GEAQLPEGQK KSSVRHKLVH LTLKKKSKLT EEVTKRLHDG ESTVQGNSML 1030 1040 1050 1060 1070 1080 EDRPTSNLEK LHFIIGNGIL RPALRDEIYC QISKQLTHNP SKSSYARGWI LVSLCVGCFA 1090 1100 1110 1120 1130 1140 PSEKFVKYLR NFIHGGPPGY APYCEERLRR TFVNGTRTQP PSWLELQATK SKKPIMLPVT 1150 1160 1170 1180 1190 1200 FMDGTTKTLL TDSATTAKEL CNALADKISL KDRFGFSLYI ALFDKVSSLG SGSDHVMDAI 1210 1220 1230 1240 1250 1260 SQCEQYAKEQ GAQERNAPWR LFFRKEVFTP WHSPSEDNVA TNLIYQQVVR GVKFGEYRCE 1270 1280 1290 1300 1310 1320 KEDDLAELAS QQYFVDYGSE MILERLLNLV PTYIPDREIT PLKTLEKWAQ LAIAAHKKGI 1330 1340 1350 1360 1370 1380 YAQRRTDAQK VKEDVVSYAR FKWPLLFSRF YEAYKFSGPS LPKNDVIVAV NWTGVYFVDE 1390 1400 1410 1420 1430 1440 QEQVLLELSF PEIMAVSSSR ECRVWLSLGC SDLGCAAPHS GWAGLTPAGP CSPCWSCRGA 1450 1460 1470 1480 1490 1500 KTTAPSFTLA TIKGDEYTFT SSNAEDIRDL VVTFLEGLRK RSKYVVALQD NPNPAGEESG 1510 1520 1530 1540 1550 1560 FLSFAKGDLI ILDHDTGEQV MNSGWANGIN ERTKQRGDFP TDSVYVMPTV TMPPREIVAL 1570 1580 1590 1600 1610 1620 VTMTPDQRQD VVRLLQLRTA EPEVRAKPYT LEEFSYDYFR PPPKHTLSRV MVSKARGKDR 1630 1640 1650 1660 1670 1680 LWSHTREPLK QALLKKLLGS EELSQEACLA FIAVLKYMGD YPSKRTRSVN ELTDQIFEGP 1690 1700 1710 1720 1730 1740 LKAEPLKDEA YVQILKQLTD NHIRYSEERG WELLWLCTGL FPPSNILLPH VQRFLQSRKH 1750 1760 1770 1780 1790 1800 CPLAIDCLQR LQKALRNGSR KYPPHLVEVE AIQHKTTQIF HKVYFPDDTD EAFEVESSTK 1810 1820 1830 1840 1850 1860 AKDFCQNIAT RLLLKSSEGF SLFVKIADKV LSVPENDFFF DFVRHLTDWI KKARPIKDGI 1870 1880 1890 1900 1910 1920 VPSLTYQVFF MKKLWTTTVP GKDPMADSIF HYYQELPKYL RGYHKCTREE VLQLGALIYR 1930 1940 1950 1960 1970 1980 VKFEEDKSYF PSIPKLLREL VPQDLIRQVS PDDWKRSIVA YFNKHAGKSK EEAKLAFLKL 1990 2000 2010 2020 2030 2040 IFKWPTFGSA FFEVKQTTEP NFPEILLIAI NKYGVSLIDP KTKDILTTHP FTKISNWSSG 2050 2060 2070 2080 2090 NTYFHITIGN LVRGSKLLCE TSLGYKMDDL LTSYISQMLT AMSKQRGSRS GK
	Isoform 6 [UniParc]. Checksum: D5D90A29BACA8CAD	FASTA	2,185	250,966
	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 QGEGEVTKRL HDGESTVQGN SMLEDRPTSN LEKLHFIIGN GILRPALRDE 1150 1160 1170 1180 1190 1200 IYCQISKQLT HNPSKSSYAR GWILVSLCVG CFAPSEKFVK YLRNFIHGGP PGYAPYCEER 1210 1220 1230 1240 1250 1260 LRRTFVNGTR TQPPSWLELQ ATKSKKPIML PVTFMDGTTK TLLTDSATTA KELCNALADK 1270 1280 1290 1300 1310 1320 ISLKDRFGFS LYIALFDKVS SLGSGSDHVM DAISQCEQYA KEQGAQERNA PWRLFFRKEV 1330 1340 1350 1360 1370 1380 FTPWHSPSED NVATNLIYQQ VVRGVKFGEY RCEKEDDLAE LASQQYFVDY GSEMILERLL 1390 1400 1410 1420 1430 1440 NLVPTYIPDR EITPLKTLEK WAQLAIAAHK KGIYAQRRTD AQKVKEDVVS YARFKWPLLF 1450 1460 1470 1480 1490 1500 SRFYEAYKFS GPSLPKNDVI VAVNWTGVYF VDEQEQVLLE LSFPEIMAVS SSRECRVWLS 1510 1520 1530 1540 1550 1560 LGCSDLGCAA PHSGWAGLTP AGPCSPCWSC RGAKTTAPSF TLATIKGDEY TFTSSNAEDI 1570 1580 1590 1600 1610 1620 RDLVVTFLEG LRKRSKYVVA LQDNPNPAGE ESGFLSFAKG DLIILDHDTG EQVMNSGWAN 1630 1640 1650 1660 1670 1680 GINERTKQRG DFPTDSVYVM PTVTMPPREI VALVTMTPDQ RQDVVRLLQL RTAEPEVRAK 1690 1700 1710 1720 1730 1740 PYTLEEFSYD YFRPPPKHTL SRVMVSKARG KDRLWSHTRE PLKQALLKKL LGSEELSQEA 1750 1760 1770 1780 1790 1800 CLAFIAVLKY MGDYPSKRTR SVNELTDQIF EGPLKAEPLK DEAYVQILKQ LTDNHIRYSE 1810 1820 1830 1840 1850 1860 ERGWELLWLC TGLFPPSNIL LPHVQRFLQS RKHCPLAIDC LQRLQKALRN GSRKYPPHLV 1870 1880 1890 1900 1910 1920 EVEAIQHKTT QIFHKVYFPD DTDEAFEVES STKAKDFCQN IATRLLLKSS EGFSLFVKIA 1930 1940 1950 1960 1970 1980 DKVLSVPEND FFFDFVRHLT DWIKKARPIK DGIVPSLTYQ VFFMKKLWTT TVPGKDPMAD 1990 2000 2010 2020 2030 2040 SIFHYYQELP KYLRGYHKCT REEVLQLGAL IYRVKFEEDK SYFPSIPKLL RELVPQDLIR 2050 2060 2070 2080 2090 2100 QVSPDDWKRS IVAYFNKHAG KSKEEAKLAF LKLIFKWPTF GSAFFEVKQT TEPNFPEILL 2110 2120 2130 2140 2150 2160 IAINKYGVSL IDPKTKDILT THPFTKISNW SSGNTYFHIT IGNLVRGSKL LCETSLGYKM 2170 2180 DDLLTSYISQ MLTAMSKQRG SRSGK
	Isoform 7 [UniParc]. Checksum: 08B2E4E410321CAB	FASTA	2,177	249,961
	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 WASRFYEAYK 1450 1460 1470 1480 1490 1500 FSGPSLPKND VIVAVNWTGV YFVDEQEQVL LELSFPEIMA VSSSRECRVW LSLGCSDLGC 1510 1520 1530 1540 1550 1560 AAPHSGWAGL TPAGPCSPCW SCRGAKTTAP SFTLATIKGD EYTFTSSNAE DIRDLVVTFL 1570 1580 1590 1600 1610 1620 EGLRKRSKYV VALQDNPNPA GEESGFLSFA KGDLIILDHD TGEQVMNSGW ANGINERTKQ 1630 1640 1650 1660 1670 1680 RGDFPTDSVY VMPTVTMPPR EIVALVTMTP DQRQDVVRLL QLRTAEPEVR AKPYTLEEFS 1690 1700 1710 1720 1730 1740 YDYFRPPPKH TLSRVMVSKA RGKDRLWSHT REPLKQALLK KLLGSEELSQ EACLAFIAVL 1750 1760 1770 1780 1790 1800 KYMGDYPSKR TRSVNELTDQ IFEGPLKAEP LKDEAYVQIL KQLTDNHIRY SEERGWELLW 1810 1820 1830 1840 1850 1860 LCTGLFPPSN ILLPHVQRFL QSRKHCPLAI DCLQRLQKAL RNGSRKYPPH LVEVEAIQHK 1870 1880 1890 1900 1910 1920 TTQIFHKVYF PDDTDEAFEV ESSTKAKDFC QNIATRLLLK SSEGFSLFVK IADKVLSVPE 1930 1940 1950 1960 1970 1980 NDFFFDFVRH LTDWIKKARP IKDGIVPSLT YQVFFMKKLW TTTVPGKDPM ADSIFHYYQE 1990 2000 2010 2020 2030 2040 LPKYLRGYHK CTREEVLQLG ALIYRVKFEE DKSYFPSIPK LLRELVPQDL IRQVSPDDWK 2050 2060 2070 2080 2090 2100 RSIVAYFNKH AGKSKEEAKL AFLKLIFKWP TFGSAFFEVK QTTEPNFPEI LLIAINKYGV 2110 2120 2130 2140 2150 2160 SLIDPKTKDI LTTHPFTKIS NWSSGNTYFH ITIGNLVRGS KLLCETSLGY KMDDLLTSYI 2170 SQMLTAMSKQ RGSRSGK

References

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[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. , 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]	"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.
[8]	"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.
[9]	"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.
[10]	"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.
[11]	"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.
[12]	"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.
[13]	"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.
[14]	"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.
[15]	"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.
[16]	"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.
[17]	"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.
[18]	"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.
[19]	"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.
[20]	"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.
[21]	"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.
[22]	"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.
[23]	"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.
[24]	"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.
[25]	"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.
[26]	"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.
[27]	"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.
[28]	"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.
[29]	"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.
[30]	"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.
[31]	"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.
[32]	"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

GeneReviews

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. AH006665 Genomic DNA. Translation: AAC51150.1.
IPI	IPI00013193. IPI00215753. IPI00215754. IPI00215756. IPI00215758. IPI00215759. IPI00936807.
PIR	A59255. A59257. I61697.
RefSeq	NP_000251.3. NM_000260.3. NP_001120651.2. NM_001127179.2. NP_001120652.1. NM_001127180.1.
UniGene	Hs.370421.
3D structure databases
ProteinModelPortal	Q13402.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-1895479.
STRING	9606.ENSP00000386331.
PTM databases
PhosphoSite	Q13402.
Polymorphism databases
DMDM	9297020.
Proteomic databases
PaxDb	Q13402.
PRIDE	Q13402.
Protocols and materials databases
DNASU	4647.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000409709; ENSP00000386331; ENSG00000137474. ENST00000458637; ENSP00000392185; ENSG00000137474. ENST00000571155; ENSP00000459665; ENSG00000261910. ENST00000575980; ENSP00000459105; ENSG00000261910.
GeneID	4647.
KEGG	hsa:4647.
UCSC	uc001oyb.2. human.
Organism-specific databases
CTD	4647.
GeneCards	GC11P076839.
H-InvDB	HIX0035966.
HGNC	HGNC:7606. MYO7A.
HPA	CAB034059. HPA028918.
MIM	276900. phenotype. 276903. gene. 600060. phenotype. 601317. phenotype.
neXtProt	NX_Q13402.
Orphanet	90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA. 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB. 65. Leber congenital amaurosis. 231169. Usher syndrome type 1.
PharmGKB	PA31411.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5022.
HOGENOM	HOG000007836.
HOVERGEN	HBG052557.
InParanoid	Q13402.
KO	K10359.
OrthoDB	EOG4S1T67.
Gene expression databases
ArrayExpress	Q13402.
Bgee	Q13402.
CleanEx	HS_MYO7A.
Genevestigator	Q13402.
GermOnline	ENSG00000137474. Homo sapiens.
Family and domain databases
Gene3D	1.20.80.10. 2 hits. 2.30.29.30. 1 hit.
InterPro	IPR019749. 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. IPR011993. PH_like_dom. IPR001452. SH3_domain. [Graphical view]
Pfam	PF00373. FERM_M. 1 hit. PF09379. FERM_N. 1 hit. PF00612. IQ. 3 hits. PF00063. Myosin_head. 1 hit. PF00784. MyTH4. 2 hits. [Graphical view]
PRINTS	PR00193. MYOSINHEAVY.
SMART	SM00295. B41. 2 hits. SM00015. IQ. 4 hits. SM00242. MYSc. 1 hit. SM00139. MyTH4. 2 hits. SM00326. SH3. 1 hit. [Graphical view]
SUPFAM	SSF47031. FERM_3-hlx. 2 hits. SSF50044. SH3. 1 hit.
PROSITE	PS00660. FERM_1. False negative. PS00661. FERM_2. False negative. PS50057. FERM_3. 2 hits. PS50096. IQ. 3 hits. PS51016. MYTH4. 2 hits. PS50002. SH3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4647.
NextBio	17912.
SOURCE	Search...

Entry information

Entry name

MYO7A_HUMAN

Accession

Primary (citable) accession number: Q13402
Secondary accession number(s): F8VUN5 , P78427, Q13321, Q14785, Q92821, Q92822

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	March 6, 2013
Last modified:	May 1, 2013
This is version 153 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.