HUMAN:MYO7A

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Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	MYO7A (synonyms: USH1B)
Protein Name(s)	Myosin-VIIa
External Links
UniProt	Q13402
EMBL	U39226 U55208 U55209 L29146 U34227 U61421 U61419 U61420
IPI	IPI00013193 IPI00215753 IPI00215754 IPI00215756 IPI00215758 IPI00215759 IPI00936807
PIR	A59255 A59257 I61697
RefSeq	NP_000251.3 NP_001120651.2 NP_001120652.1
UniGene	Hs.370421
ProteinModelPortal	Q13402
SMR	Q13402
MINT	MINT-1895479
STRING	Q13402
PhosphoSite	Q13402
DMDM	9297020
PRIDE	Q13402
Ensembl	ENST00000409709
GeneID	4647
KEGG	hsa:4647
UCSC	uc001oyb.2 uc001oyc.2
CTD	4647
GeneCards	GC11P076839
H-InvDB	HIX0035966
HGNC	HGNC:7606
HPA	CAB034059 HPA028918
MIM	276900 276903 600060 601317
neXtProt	NX_Q13402
Orphanet	90635 90636 231169
eggNOG	prNOG04352
GeneTree	ENSGT00600000084203
HOGENOM	HBG358342
HOVERGEN	HBG052557
InParanoid	Q13402
OrthoDB	EOG4S1T67
PhylomeDB	Q13402
ArrayExpress	Q13402
Bgee	Q13402
CleanEx	HS_MYO7A
Genevestigator	Q13402
GermOnline	ENSG00000137474
GO	GO:0005829 GO:0005765 GO:0016459 GO:0001917 GO:0001750 GO:0045202 GO:0003779 GO:0005524 GO:0005516 GO:0000146 GO:0030048 GO:0050957 GO:0042462 GO:0007040 GO:0007605 GO:0007601
InterPro	IPR019749 IPR014352 IPR019748 IPR000299 IPR018979 IPR000048 IPR001609 IPR000857 IPR011993 IPR001452
Gene3D	G3DSA:1.20.80.10 G3DSA:2.30.29.30
KO	K10359
Pfam	PF00373 PF09379 PF00612 PF00063 PF00784
PRINTS	PR00193
SMART	SM00295 SM00015 SM00242 SM00139 SM00326
SUPFAM	SSF47031 SSF50044
PROSITE	PS00660 PS00661 PS50057 PS50096 PS51016 PS50002

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes
	GO:0000146	microfilament motor activity	PMID:21687988^[1]	IDA: Inferred from Direct Assay		F	Seeded From UniProt
	GO:0000166	nucleotide binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0547	F	Seeded From UniProt
	GO:0001750	photoreceptor outer segment	PMID:8842737^[2]	IDA: Inferred from Direct Assay		C	Seeded From UniProt
	GO:0001845	phagolysosome assembly	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0001917	photoreceptor inner segment	PMID:8842737^[2]	IDA: Inferred from Direct Assay		C	Seeded From UniProt
	GO:0003774	motor activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001609	F	Seeded From UniProt
	GO:0003779	actin binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0009	F	Seeded From UniProt
	GO:0005488	binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR014352	F	Seeded From UniProt
	GO:0005515	protein binding	PMID:11964381^[3]	IPI: Inferred from Physical Interaction	UniProtKB:Q8NFW9	F	Seeded From UniProt
	GO:0005516	calmodulin binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0112	F	Seeded From UniProt
	GO:0005516	calmodulin binding	PMID:15300860^[4]	IMP: Inferred from Mutant Phenotype		F	Seeded From UniProt
	GO:0005524	ATP binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001609	F	Seeded From UniProt
	GO:0005524	ATP binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0067	F	Seeded From UniProt
	GO:0005737	cytoplasm	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0963	C	Seeded From UniProt
	GO:0005737	cytoplasm	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	C	Seeded From UniProt
	GO:0005737	cytoplasm	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0086	C	Seeded From UniProt
	GO:0005765	lysosomal membrane	PMID:16001398^[5]	IDA: Inferred from Direct Assay		C	Seeded From UniProt
	GO:0005829	cytosol	PMID:15300860^[4]	IDA: Inferred from Direct Assay		C	Seeded From UniProt
	GO:0005856	cytoskeleton	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000299	C	Seeded From UniProt
	GO:0005856	cytoskeleton	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000857	C	Seeded From UniProt
	GO:0005856	cytoskeleton	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0206	C	Seeded From UniProt
	GO:0005856	cytoskeleton	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0090	C	Seeded From UniProt
	GO:0005938	cell cortex	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0138	C	Seeded From UniProt
	GO:0006909	phagocytosis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0007040	lysosome organization	PMID:16001398^[5]	IDA: Inferred from Direct Assay		P	Seeded From UniProt
	GO:0007600	sensory perception	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0007601	visual perception	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0007601	visual perception	PMID:7870171^[6]	IMP: Inferred from Mutant Phenotype		P	Seeded From UniProt
	GO:0007605	sensory perception of sound	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-1009	P	Seeded From UniProt
	GO:0007605	sensory perception of sound	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0007605	sensory perception of sound	PMID:11398101^[7]	IMP: Inferred from Mutant Phenotype		P	Seeded From UniProt
	GO:0007605	sensory perception of sound	PMID:7870171^[6]	IMP: Inferred from Mutant Phenotype		P	Seeded From UniProt
	GO:0007605	sensory perception of sound	PMID:7870171^[6]	IMP: Inferred from Mutant Phenotype		P	Seeded From UniProt
	GO:0016324	apical plasma membrane	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	C	Seeded From UniProt
	GO:0016459	myosin complex	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001609	C	Seeded From UniProt
	GO:0016459	myosin complex	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0518	C	Seeded From UniProt
	GO:0019904	protein domain specific binding	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	F	Seeded From UniProt
	GO:0030030	cell projection organization	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0030048	actin filament-based movement	PMID:21687988^[1]	IDA: Inferred from Direct Assay		P	Seeded From UniProt
	GO:0032420	stereocilium	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	C	Seeded From UniProt
	GO:0042462	eye photoreceptor cell development	PMID:8842737^[2]	IC: Inferred by Curator	GO:0001917	P	Seeded From UniProt
	GO:0042470	melanosome	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	C	Seeded From UniProt
	GO:0042472	inner ear morphogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0042490	mechanoreceptor differentiation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0042491	auditory receptor cell differentiation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0045202	synapse	PMID:8842737^[2]	IDA: Inferred from Direct Assay		C	Seeded From UniProt
	GO:0046983	protein dimerization activity	PMID:8622919^[8]	RCA: Inferred from Reviewed Computational Analysis		F	Seeded From UniProt
	GO:0048563	post-embryonic organ morphogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0048839	inner ear development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0050953	sensory perception of light stimulus	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0050953	sensory perception of light stimulus	PMID:11398101^[7]	IMP: Inferred from Mutant Phenotype		P	Seeded From UniProt
	GO:0050957	equilibrioception	PMID:7870171^[6]	IMP: Inferred from Mutant Phenotype		P	Seeded From UniProt
	GO:0051015	actin filament binding	PMID:21687988^[1]	IDA: Inferred from Direct Assay		F	Seeded From UniProt
	GO:0051875	pigment granule localization	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0051904	pigment granule transport	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0060088	auditory receptor cell stereocilium organization	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
	GO:0060113	inner ear receptor cell differentiation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000102744	P	Seeded From UniProt
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 Heissler SM & Manstein DJ (2012) Functional characterization of the human myosin-7a motor domain. Cell Mol Life Sci 69: 299-311 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 el-Amraoui A et al. (1996) Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum Mol Genet 5: 1171-8 PubMed GONUTS page
↑ El-Amraoui A et al. (2002) MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. EMBO Rep 3: 463-70 PubMed GONUTS page
↑ ^4.0 ^4.1 Bolz H et al. (2004) Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Hum Mutat 24: 274-5 PubMed GONUTS page
↑ ^5.0 ^5.1 Soni LE et al. (2005) The unconventional myosin-VIIa associates with lysosomes. Cell Motil Cytoskeleton 62: 13-26 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 Weil D et al. (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374: 60-1 PubMed GONUTS page
↑ ^7.0 ^7.1 Ahmed ZM et al. (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 69: 25-34 PubMed GONUTS page
↑ Weil D et al. (1996) Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc Natl Acad Sci U S A 93: 3232-7 PubMed GONUTS page

[PMID:21687988-0] 1.0 ^1.1 ^1.2 Heissler SM & Manstein DJ (2012) Functional characterization of the human myosin-7a motor domain. Cell Mol Life Sci 69: 299-311 PubMed GONUTS page

[PMID:8842737-1] 2.0 ^2.1 ^2.2 ^2.3 el-Amraoui A et al. (1996) Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum Mol Genet 5: 1171-8 PubMed GONUTS page

[PMID:11964381-2] El-Amraoui A et al. (2002) MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. EMBO Rep 3: 463-70 PubMed GONUTS page

[PMID:15300860-3] 4.0 ^4.1 Bolz H et al. (2004) Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Hum Mutat 24: 274-5 PubMed GONUTS page

[PMID:16001398-4] 5.0 ^5.1 Soni LE et al. (2005) The unconventional myosin-VIIa associates with lysosomes. Cell Motil Cytoskeleton 62: 13-26 PubMed GONUTS page

[PMID:7870171-5] 6.0 ^6.1 ^6.2 ^6.3 Weil D et al. (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374: 60-1 PubMed GONUTS page

[PMID:11398101-6] 7.0 ^7.1 Ahmed ZM et al. (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 69: 25-34 PubMed GONUTS page

[PMID:8622919-7] Weil D et al. (1996) Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc Natl Acad Sci U S A 93: 3232-7 PubMed GONUTS page

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HUMAN:MYO7A

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