Q9Y4I1 (MYO5A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Unconventional myosin-Va

Alternative name(s):
Dilute myosin heavy chain, non-muscle
Myosin heavy chain 12
Myosin-12
Myoxin

Gene names

Name:	MYO5A
Synonyms:	MYH12

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	1855 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. Ref.8
Subunit structure	May be a homodimer, which associates with multiple calmodulin or myosin light chains. Binds MLPH and MYRIP. Interacts with RIPL2, the interaction is required for its role in dendrite formation By similarity. Interacts with RAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles. Ref.9 Ref.14
Tissue specificity	Detected in melanocytes.
Involvement in disease	Griscelli syndrome 1 (GS1) [MIM:214450]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Griscelli syndrome 3 (GS3) [MIM:609227]: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19 Elejalde syndrome (ELEJAS) [MIM:256710]: Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17
Sequence similarities	Contains 1 dilute domain. Contains 6 IQ domains. Contains 1 myosin head-like domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil Repeat
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 Non-traceable author statement Ref.8. Source: UniProtKB anagen Inferred from electronic annotation. Source: Compara cellular response to insulin stimulus Inferred from sequence or structural similarity. Source: UniProtKB endoplasmic reticulum localization Inferred from electronic annotation. Source: Compara exocytosis Inferred from electronic annotation. Source: Compara insulin secretion Inferred from electronic annotation. Source: Compara locomotion involved in locomotory behavior Inferred from electronic annotation. Source: Compara long-chain fatty acid biosynthetic process Inferred from electronic annotation. Source: Compara melanin biosynthetic process Inferred from electronic annotation. Source: Compara melanocyte differentiation Inferred from electronic annotation. Source: Compara melanosome transport Inferred from electronic annotation. Source: Compara myelination Inferred from electronic annotation. Source: Compara odontogenesis Inferred from electronic annotation. Source: Compara protein localization to plasma membrane Inferred from sequence or structural similarity. Source: UniProtKB regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Inferred from electronic annotation. Source: Compara secretory granule localization Inferred from electronic annotation. Source: Compara synapse organization Inferred from electronic annotation. Source: Compara synaptic transmission Inferred from electronic annotation. Source: Compara vesicle-mediated transport Inferred from sequence or structural similarity. Source: UniProtKB visual perception Inferred from electronic annotation. Source: Compara
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: Compara actomyosin Inferred from electronic annotation. Source: Compara growth cone Non-traceable author statement PubMed 10391919. Source: UniProtKB insulin-responsive compartment Inferred from sequence or structural similarity. Source: UniProtKB intermediate filament Inferred from electronic annotation. Source: Compara melanosome Inferred from electronic annotation. Source: Compara microtubule plus end Inferred from electronic annotation. Source: Compara myosin complex Inferred from electronic annotation. Source: UniProtKB-KW neuronal cell body Inferred from electronic annotation. Source: Compara photoreceptor outer segment Inferred from electronic annotation. Source: Compara ruffle Inferred from direct assay PubMed 9852149. Source: UniProtKB
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW calcium ion binding Inferred from electronic annotation. Source: Compara microfilament motor activity Non-traceable author statement Ref.8. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y4I1-1)

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: Q9Y4I1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1321-1347: Missing.

Isoform 3 (identifier: Q9Y4I1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1413-1413: L → LYFEELYADDPKKYQSYRISLYKRMI

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1855	1855	Unconventional myosin-Va		PRO_0000123456
Regions
	Domain	1 – 765	765	Myosin head-like
	Domain	766 – 788	23	IQ 1
	Domain	789 – 818	30	IQ 2
	Domain	814 – 836	23	IQ 3
	Domain	837 – 861	25	IQ 4
	Domain	862 – 883	22	IQ 5
	Domain	885 – 914	30	IQ 6
	Domain	1534 – 1810	277	Dilute
	Nucleotide binding	163 – 170	8	ATP Potential
	Region	643 – 665	23	Actin-binding Potential
	Coiled coil	914 – 1237	324	Potential
	Coiled coil	1338 – 1445	108	Potential
Amino acid modifications
	Modified residue	600	1	Phosphoserine By similarity
	Modified residue	1452	1	Phosphoserine Ref.12
	Modified residue	1760	1	Phosphothreonine Potential
Natural variations
	Alternative sequence	1321 – 1347	27	Missing in isoform 2.		VSP_003351
	Alternative sequence	1413	1	L → LYFEELYADDPKKYQSYRIS LYKRMI in isoform 3.		VSP_003352
	Natural variant	627	1	M → T. Corresponds to variant rs16964944 [ dbSNP | Ensembl ].		VAR_056180
	Natural variant	1246	1	R → C. Ref.2 Ref.15 Corresponds to variant rs1058219 [ dbSNP | Ensembl ].		VAR_010645
	Natural variant	1673	1	S → L. Corresponds to variant rs9282796 [ dbSNP | Ensembl ].		VAR_056181
Experimental info
	Sequence conflict	198	1	A → T in CAA69035. Ref.1
	Sequence conflict	198	1	A → T in CAA69036. Ref.1
	Sequence conflict	198	1	A → T in AAD00702. Ref.2
	Sequence conflict	362	1	E → D in CAA69035. Ref.1
	Sequence conflict	362	1	E → D in CAA69036. Ref.1
	Sequence conflict	362	1	E → D in AAD00702. Ref.2
	Sequence conflict	668	1	F → L in CAA69035. Ref.1
	Sequence conflict	668	1	F → L in CAA69036. Ref.1
	Sequence conflict	833	1	Missing in CAA80533. Ref.5
	Sequence conflict	863	1	E → G in CAA69035. Ref.1
	Sequence conflict	863	1	E → G in CAA69036. Ref.1
	Sequence conflict	922	1	H → R in CAA69035. Ref.1
	Sequence conflict	922	1	H → R in CAA69036. Ref.1
	Sequence conflict	1061	1	V → L in AAB33211. Ref.6
	Sequence conflict	1089	1	E → Q in CAA80533. Ref.5
	Sequence conflict	1177	1	D → E in AAB33211. Ref.6
	Sequence conflict	1465 – 1477	13	NIPRK…FQGML → SVLCACCVSVTVR in CAA80533. Ref.5
	Sequence conflict	1471	1	K → N in AAB33211. Ref.6
	Sequence conflict	1484	1	E → D in AAB33211. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 78FD3B1D08D90A0A	FASTA	1,855	215,405
	10 20 30 40 50 60 MAASELYTKF ARVWIPDPEE VWKSAELLKD YKPGDKVLLL HLEEGKDLEY HLDPKTKELP 70 80 90 100 110 120 HLRNPDILVG ENDLTALSYL HEPAVLHNLR VRFIDSKLIY TYCGIVLVAI NPYEQLPIYG 130 140 150 160 170 180 EDIINAYSGQ NMGDMDPHIF AVAEEAYKQM ARDERNQSII VSGESGAGKT VSAKYAMRYF 190 200 210 220 230 240 ATVSGSASEA NVEEKVLASN PIMESIGNAK TTRNDNSSRF GKYIEIGFDK RYRIIGANMR 250 260 270 280 290 300 TYLLEKSRVV FQAEEERNYH IFYQLCASAK LPEFKMLRLG NADNFNYTKQ GGSPVIEGVD 310 320 330 340 350 360 DAKEMAHTRQ ACTLLGISES HQMGIFRILA GILHLGNVGF TSRDADSCTI PPKHEPLCIF 370 380 390 400 410 420 CELMGVDYEE MCHWLCHRKL ATATETYIKP ISKLQATNAR DALAKHIYAK LFNWIVDNVN 430 440 450 460 470 480 QALHSAVKQH SFIGVLDIYG FETFEINSFE QFCINYANEK LQQQFNMHVF KLEQEEYMKE 490 500 510 520 530 540 QIPWTLIDFY DNQPCINLIE SKLGILDLLD EECKMPKGTD DTWAQKLYNT HLNKCALFEK 550 560 570 580 590 600 PRLSNKAFII QHFADKVEYQ CEGFLEKNKD TVFEEQIKVL KSSKFKMLPE LFQDDEKAIS 610 620 630 640 650 660 PTSATSSGRT PLTRTPAKPT KGRPGQMAKE HKKTVGHQFR NSLHLLMETL NATTPHYVRC 670 680 690 700 710 720 IKPNDFKFPF TFDEKRAVQQ LRACGVLETI RISAAGFPSR WTYQEFFSRY RVLMKQKDVL 730 740 750 760 770 780 SDRKQTCKNV LEKLILDKDK YQFGKTKIFF RAGQVAYLEK LRADKLRAAC IRIQKTIRGW 790 800 810 820 830 840 LLRKKYLRMR KAAITMQRYV RGYQARCYAK FLRRTKAATI IQKYWRMYVV RRRYKIRRAA 850 860 870 880 890 900 TIVLQSYLRG FLARNRYRKI LREHKAVIIQ KRVRGWLART HYKRSMHAII YLQCCFRRMM 910 920 930 940 950 960 AKRELKKLKI EARSVERYKK LHIGMENKIM QLQRKVDEQN KDYKCLVEKL TNLEGIYNSE 970 980 990 1000 1010 1020 TEKLRSDLER LQLSEEEAKV ATGRVLSLQE EIAKLRKDLE QTRSEKKCIE EHADRYKQET 1030 1040 1050 1060 1070 1080 EQLVSNLKEE NTLLKQEKEA LNHRIVQQAK EMTETMEKKL VEETKQLELD LNDERLRYQN 1090 1100 1110 1120 1130 1140 LLNEFSRLEE RYDDLKEEMT LMVHVPKPGH KRTDSTHSSN ESEYIFSSEI AEMEDIPSRT 1150 1160 1170 1180 1190 1200 EEPSEKKVPL DMSLFLKLQK RVTELEQEKQ VMQDELDRKE EQVLRSKAKE EERPQIRGAE 1210 1220 1230 1240 1250 1260 LEYESLKRQE LESENKKLKN ELNELRKALS EKSAPEVTAP GAPAYRVLME QLTSVSEELD 1270 1280 1290 1300 1310 1320 VRKEEVLILR SQLVSQKEAI QPKDDKNTMT DSTILLEDVQ KMKDKGEIAQ AYIGLKETNR 1330 1340 1350 1360 1370 1380 SSALDYHELN EDGELWLVYE GLKQANRLLE SQLQSQKRSH ENEAEALRGE IQSLKEENNR 1390 1400 1410 1420 1430 1440 QQQLLAQNLQ LPPEARIEAS LQHEITRLTN ENLDLMEQLE KQDKTVRKLK KQLKVFAKKI 1450 1460 1470 1480 1490 1500 GELEVGQMEN ISPGQIIDEP IRPVNIPRKE KDFQGMLEYK KEDEQKLVKN LILELKPRGV 1510 1520 1530 1540 1550 1560 AVNLIPGLPA YILFMCVRHA DYLNDDQKVR SLLTSTINSI KKVLKKRGDD FETVSFWLSN 1570 1580 1590 1600 1610 1620 TCRFLHCLKQ YSGEEGFMKH NTSRQNEHCL TNFDLAEYRQ VLSDLAIQIY QQLVRVLENI 1630 1640 1650 1660 1670 1680 LQPMIVSGML EHETIQGVSG VKPTGLRKRT SSIADEGTYT LDSILRQLNS FHSVMCQHGM 1690 1700 1710 1720 1730 1740 DPELIKQVVK QMFYIIGAIT LNNLLLRKDM CSWSKGMQIR YNVSQLEEWL RDKNLMNSGA 1750 1760 1770 1780 1790 1800 KETLEPLIQA AQLLQVKKKT DDDAEAICSM CNALTTAQIV KVLNLYTPVN EFEERVSVSF 1810 1820 1830 1840 1850 IRTIQMRLRD RKDSPQLLMD AKHIFPVTFP FNPSSLALET IQIPASLGLG FISRV
	Isoform 2 [UniParc]. Checksum: 6C1F609CE0FAC368	FASTA	1,828	212,273
	10 20 30 40 50 60 MAASELYTKF ARVWIPDPEE VWKSAELLKD YKPGDKVLLL HLEEGKDLEY HLDPKTKELP 70 80 90 100 110 120 HLRNPDILVG ENDLTALSYL HEPAVLHNLR VRFIDSKLIY TYCGIVLVAI NPYEQLPIYG 130 140 150 160 170 180 EDIINAYSGQ NMGDMDPHIF AVAEEAYKQM ARDERNQSII VSGESGAGKT VSAKYAMRYF 190 200 210 220 230 240 ATVSGSASEA NVEEKVLASN PIMESIGNAK TTRNDNSSRF GKYIEIGFDK RYRIIGANMR 250 260 270 280 290 300 TYLLEKSRVV FQAEEERNYH IFYQLCASAK LPEFKMLRLG NADNFNYTKQ GGSPVIEGVD 310 320 330 340 350 360 DAKEMAHTRQ ACTLLGISES HQMGIFRILA GILHLGNVGF TSRDADSCTI PPKHEPLCIF 370 380 390 400 410 420 CELMGVDYEE MCHWLCHRKL ATATETYIKP ISKLQATNAR DALAKHIYAK LFNWIVDNVN 430 440 450 460 470 480 QALHSAVKQH SFIGVLDIYG FETFEINSFE QFCINYANEK LQQQFNMHVF KLEQEEYMKE 490 500 510 520 530 540 QIPWTLIDFY DNQPCINLIE SKLGILDLLD EECKMPKGTD DTWAQKLYNT HLNKCALFEK 550 560 570 580 590 600 PRLSNKAFII QHFADKVEYQ CEGFLEKNKD TVFEEQIKVL KSSKFKMLPE LFQDDEKAIS 610 620 630 640 650 660 PTSATSSGRT PLTRTPAKPT KGRPGQMAKE HKKTVGHQFR NSLHLLMETL NATTPHYVRC 670 680 690 700 710 720 IKPNDFKFPF TFDEKRAVQQ LRACGVLETI RISAAGFPSR WTYQEFFSRY RVLMKQKDVL 730 740 750 760 770 780 SDRKQTCKNV LEKLILDKDK YQFGKTKIFF RAGQVAYLEK LRADKLRAAC IRIQKTIRGW 790 800 810 820 830 840 LLRKKYLRMR KAAITMQRYV RGYQARCYAK FLRRTKAATI IQKYWRMYVV RRRYKIRRAA 850 860 870 880 890 900 TIVLQSYLRG FLARNRYRKI LREHKAVIIQ KRVRGWLART HYKRSMHAII YLQCCFRRMM 910 920 930 940 950 960 AKRELKKLKI EARSVERYKK LHIGMENKIM QLQRKVDEQN KDYKCLVEKL TNLEGIYNSE 970 980 990 1000 1010 1020 TEKLRSDLER LQLSEEEAKV ATGRVLSLQE EIAKLRKDLE QTRSEKKCIE EHADRYKQET 1030 1040 1050 1060 1070 1080 EQLVSNLKEE NTLLKQEKEA LNHRIVQQAK EMTETMEKKL VEETKQLELD LNDERLRYQN 1090 1100 1110 1120 1130 1140 LLNEFSRLEE RYDDLKEEMT LMVHVPKPGH KRTDSTHSSN ESEYIFSSEI AEMEDIPSRT 1150 1160 1170 1180 1190 1200 EEPSEKKVPL DMSLFLKLQK RVTELEQEKQ VMQDELDRKE EQVLRSKAKE EERPQIRGAE 1210 1220 1230 1240 1250 1260 LEYESLKRQE LESENKKLKN ELNELRKALS EKSAPEVTAP GAPAYRVLME QLTSVSEELD 1270 1280 1290 1300 1310 1320 VRKEEVLILR SQLVSQKEAI QPKDDKNTMT DSTILLEDVQ KMKDKGEIAQ AYIGLKETNR 1330 1340 1350 1360 1370 1380 LLESQLQSQK RSHENEAEAL RGEIQSLKEE NNRQQQLLAQ NLQLPPEARI EASLQHEITR 1390 1400 1410 1420 1430 1440 LTNENLDLME QLEKQDKTVR KLKKQLKVFA KKIGELEVGQ MENISPGQII DEPIRPVNIP 1450 1460 1470 1480 1490 1500 RKEKDFQGML EYKKEDEQKL VKNLILELKP RGVAVNLIPG LPAYILFMCV RHADYLNDDQ 1510 1520 1530 1540 1550 1560 KVRSLLTSTI NSIKKVLKKR GDDFETVSFW LSNTCRFLHC LKQYSGEEGF MKHNTSRQNE 1570 1580 1590 1600 1610 1620 HCLTNFDLAE YRQVLSDLAI QIYQQLVRVL ENILQPMIVS GMLEHETIQG VSGVKPTGLR 1630 1640 1650 1660 1670 1680 KRTSSIADEG TYTLDSILRQ LNSFHSVMCQ HGMDPELIKQ VVKQMFYIIG AITLNNLLLR 1690 1700 1710 1720 1730 1740 KDMCSWSKGM QIRYNVSQLE EWLRDKNLMN SGAKETLEPL IQAAQLLQVK KKTDDDAEAI 1750 1760 1770 1780 1790 1800 CSMCNALTTA QIVKVLNLYT PVNEFEERVS VSFIRTIQMR LRDRKDSPQL LMDAKHIFPV 1810 1820 TFPFNPSSLA LETIQIPASL GLGFISRV
	Isoform 3 [UniParc]. Checksum: 86CCDF8124408640	FASTA	1,880	218,608
	10 20 30 40 50 60 MAASELYTKF ARVWIPDPEE VWKSAELLKD YKPGDKVLLL HLEEGKDLEY HLDPKTKELP 70 80 90 100 110 120 HLRNPDILVG ENDLTALSYL HEPAVLHNLR VRFIDSKLIY TYCGIVLVAI NPYEQLPIYG 130 140 150 160 170 180 EDIINAYSGQ NMGDMDPHIF AVAEEAYKQM ARDERNQSII VSGESGAGKT VSAKYAMRYF 190 200 210 220 230 240 ATVSGSASEA NVEEKVLASN PIMESIGNAK TTRNDNSSRF GKYIEIGFDK RYRIIGANMR 250 260 270 280 290 300 TYLLEKSRVV FQAEEERNYH IFYQLCASAK LPEFKMLRLG NADNFNYTKQ GGSPVIEGVD 310 320 330 340 350 360 DAKEMAHTRQ ACTLLGISES HQMGIFRILA GILHLGNVGF TSRDADSCTI PPKHEPLCIF 370 380 390 400 410 420 CELMGVDYEE MCHWLCHRKL ATATETYIKP ISKLQATNAR DALAKHIYAK LFNWIVDNVN 430 440 450 460 470 480 QALHSAVKQH SFIGVLDIYG FETFEINSFE QFCINYANEK LQQQFNMHVF KLEQEEYMKE 490 500 510 520 530 540 QIPWTLIDFY DNQPCINLIE SKLGILDLLD EECKMPKGTD DTWAQKLYNT HLNKCALFEK 550 560 570 580 590 600 PRLSNKAFII QHFADKVEYQ CEGFLEKNKD TVFEEQIKVL KSSKFKMLPE LFQDDEKAIS 610 620 630 640 650 660 PTSATSSGRT PLTRTPAKPT KGRPGQMAKE HKKTVGHQFR NSLHLLMETL NATTPHYVRC 670 680 690 700 710 720 IKPNDFKFPF TFDEKRAVQQ LRACGVLETI RISAAGFPSR WTYQEFFSRY RVLMKQKDVL 730 740 750 760 770 780 SDRKQTCKNV LEKLILDKDK YQFGKTKIFF RAGQVAYLEK LRADKLRAAC IRIQKTIRGW 790 800 810 820 830 840 LLRKKYLRMR KAAITMQRYV RGYQARCYAK FLRRTKAATI IQKYWRMYVV RRRYKIRRAA 850 860 870 880 890 900 TIVLQSYLRG FLARNRYRKI LREHKAVIIQ KRVRGWLART HYKRSMHAII YLQCCFRRMM 910 920 930 940 950 960 AKRELKKLKI EARSVERYKK LHIGMENKIM QLQRKVDEQN KDYKCLVEKL TNLEGIYNSE 970 980 990 1000 1010 1020 TEKLRSDLER LQLSEEEAKV ATGRVLSLQE EIAKLRKDLE QTRSEKKCIE EHADRYKQET 1030 1040 1050 1060 1070 1080 EQLVSNLKEE NTLLKQEKEA LNHRIVQQAK EMTETMEKKL VEETKQLELD LNDERLRYQN 1090 1100 1110 1120 1130 1140 LLNEFSRLEE RYDDLKEEMT LMVHVPKPGH KRTDSTHSSN ESEYIFSSEI AEMEDIPSRT 1150 1160 1170 1180 1190 1200 EEPSEKKVPL DMSLFLKLQK RVTELEQEKQ VMQDELDRKE EQVLRSKAKE EERPQIRGAE 1210 1220 1230 1240 1250 1260 LEYESLKRQE LESENKKLKN ELNELRKALS EKSAPEVTAP GAPAYRVLME QLTSVSEELD 1270 1280 1290 1300 1310 1320 VRKEEVLILR SQLVSQKEAI QPKDDKNTMT DSTILLEDVQ KMKDKGEIAQ AYIGLKETNR 1330 1340 1350 1360 1370 1380 SSALDYHELN EDGELWLVYE GLKQANRLLE SQLQSQKRSH ENEAEALRGE IQSLKEENNR 1390 1400 1410 1420 1430 1440 QQQLLAQNLQ LPPEARIEAS LQHEITRLTN ENLYFEELYA DDPKKYQSYR ISLYKRMIDL 1450 1460 1470 1480 1490 1500 MEQLEKQDKT VRKLKKQLKV FAKKIGELEV GQMENISPGQ IIDEPIRPVN IPRKEKDFQG 1510 1520 1530 1540 1550 1560 MLEYKKEDEQ KLVKNLILEL KPRGVAVNLI PGLPAYILFM CVRHADYLND DQKVRSLLTS 1570 1580 1590 1600 1610 1620 TINSIKKVLK KRGDDFETVS FWLSNTCRFL HCLKQYSGEE GFMKHNTSRQ NEHCLTNFDL 1630 1640 1650 1660 1670 1680 AEYRQVLSDL AIQIYQQLVR VLENILQPMI VSGMLEHETI QGVSGVKPTG LRKRTSSIAD 1690 1700 1710 1720 1730 1740 EGTYTLDSIL RQLNSFHSVM CQHGMDPELI KQVVKQMFYI IGAITLNNLL LRKDMCSWSK 1750 1760 1770 1780 1790 1800 GMQIRYNVSQ LEEWLRDKNL MNSGAKETLE PLIQAAQLLQ VKKKTDDDAE AICSMCNALT 1810 1820 1830 1840 1850 1860 TAQIVKVLNL YTPVNEFEER VSVSFIRTIQ MRLRDRKDSP QLLMDAKHIF PVTFPFNPSS 1870 1880 LALETIQIPA SLGLGFISRV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The complete cDNA for human myosin heavy chain 12, a class V myosin." Meurers B.H., Zimmermann R., Vosberg H.P. Submitted (SEP-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Skin.
[2]	"Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene." Pastural E., Barrat F.J., Dufourcq-Lagelouse R., Certain S., Sanal O., Jabado N., Seger R., Griscelli C., Fischer A., de Saint Basile G. Nat. Genet. 16:289-292(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT CYS-1246.
[3]	Erratum Pastural E., Barrat F.J., Dufourcq-Lagelouse R., Certain S., Sanal O., Jabado N., Seger R., Griscelli C., Fischer A., de Saint Basile G. Nat. Genet. 23:373-373(1999)
[4]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene." Engle L.J., Kennett R.H. Genomics 19:407-416(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 638-1477 (ISOFORM 2). Tissue: Fetal brain.
[6]	"Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21." Moore K.J., Testa J.R., Francke U., Milatovich A., Copeland N.G., Jenkins N.A. Cytogenet. Cell Genet. 69:53-58(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1061-1498 (ISOFORM 2). Tissue: Brain.
[7]	"Inhibition of dendrite formation in melanocytes transiently transfected with antisense DNA to myosin V." Edgar A.J., Bennett J.P. Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1358-1460 (ISOFORM 3).
[8]	"Myosin-V is a processive actin-based motor." Mehta A.D., Rock R.S., Rief M., Spudich J.A., Mooseker M.S., Cheney R.E. Nature 400:590-593(1999) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[9]	"Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions." Nagashima K., Torii S., Yi Z., Igarashi M., Okamoto K., Takeuchi T., Izumi T. FEBS Lett. 517:233-238(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MLPH.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[11]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell.
[12]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1452, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[13]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]	"Rab10 and myosin-Va mediate insulin-stimulated GLUT4 storage vesicle translocation in adipocytes." Chen Y., Wang Y., Zhang J., Deng Y., Jiang L., Song E., Wu X.S., Hammer J.A., Xu T., Lippincott-Schwartz J. J. Cell Biol. 198:545-560(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH RAB10.
[15]	"Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome." Lambert J., Naeyaert J.-M., De Paepe A., Van Coster R., Ferster A., Song M., Messiaen L. J. Invest. Dermatol. 114:731-733(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CYS-1246.
[16]	"Two genes are responsible for Griscelli syndrome at the same 15q21 locus." Pastural E., Ersoy F., Yalman N., Wulffraat N., Grillo E., Ozkinay F., Tezcan I., Gedikoglu G., Philippe N., Fischer A., de Saint Basile G. Genomics 63:299-306(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN GS1.
[17]	"Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A." Anikster Y., Huizing M., Anderson P.D., Fitzpatrick D.L., Klar A., Gross-Kieselstein E., Berkun Y., Shazberg G., Gahl W.A., Hurvitz H. Am. J. Hum. Genet. 71:407-414(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN ELEJAS.
[18]	Erratum Anikster Y., Huizing M., Anderson P.D., Fitzpatrick D.L., Klar A., Gross-Kieselstein E., Berkun Y., Shazberg G., Gahl W.A., Hurvitz H. Am. J. Hum. Genet. 71:1007-1007(2002)
[19]	"Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)." Menasche G., Ho C.H., Sanal O., Feldmann J., Tezcan I., Ersoy F., Houdusse A., Fischer A., de Saint Basile G. J. Clin. Invest. 112:450-456(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN GS3.
+	Additional computationally mapped references.

Web resources

MYO5Abase

MYO5A mutation db

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y07759 mRNA. Translation: CAA69035.1. Y07759 mRNA. Translation: CAA69036.1. U90942 mRNA. Translation: AAD00702.1. AC010674 Genomic DNA. No translation available. AC018902 Genomic DNA. No translation available. AC025917 Genomic DNA. No translation available. Z22957 mRNA. Translation: CAA80533.1. S74799 mRNA. Translation: AAB33211.1. AF055459 mRNA. Translation: AAC14188.1.
IPI	IPI00000807. IPI00220154. IPI00873959.
PIR	A53016. A59254. B59254. I52966.
RefSeq	NP_000250.3. NM_000259.3.
UniGene	Hs.21213. Hs.596221.
3D structure databases
ProteinModelPortal	Q9Y4I1.
SMR	Q9Y4I1. Positions 2-819, 1465-1855.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y4I1. 3 interactions.
MINT	MINT-3388025.
STRING	9606.ENSP00000382177.
PTM databases
PhosphoSite	Q9Y4I1.
Polymorphism databases
DMDM	296439234.
Proteomic databases
PaxDb	Q9Y4I1.
PRIDE	Q9Y4I1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000356338; ENSP00000348693; ENSG00000197535. ENST00000399231; ENSP00000382177; ENSG00000197535.
GeneID	4644.
KEGG	hsa:4644.
UCSC	uc002aby.2. human. uc010uge.1. human.
Organism-specific databases
CTD	4644.
GeneCards	GC15M052599.
HGNC	HGNC:7602. MYO5A.
HPA	HPA001356.
MIM	160777. gene. 214450. phenotype. 256710. phenotype. 609227. phenotype.
neXtProt	NX_Q9Y4I1.
Orphanet	79476. Griscelli disease type 1. 79478. Griscelli disease type 3. 33445. Neuroectodermal melanolysosomal disease.
PharmGKB	PA31407.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5022.
HOVERGEN	HBG052556.
KO	K10357.
OrthoDB	EOG4KPT8Z.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking. REACT_116125. Disease.
Gene expression databases
ArrayExpress	Q9Y4I1.
Bgee	Q9Y4I1.
CleanEx	HS_MYO5A.
Genevestigator	Q9Y4I1.
GermOnline	ENSG00000197535. Homo sapiens.
Family and domain databases
InterPro	IPR018444. Dil_domain. IPR002710. Dilute. IPR000048. IQ_motif_EF-hand-BS. IPR001609. Myosin_head_motor_dom. [Graphical view]
Pfam	PF01843. DIL. 1 hit. PF00612. IQ. 6 hits. PF00063. Myosin_head. 1 hit. [Graphical view]
PRINTS	PR00193. MYOSINHEAVY.
SMART	SM00015. IQ. 6 hits. SM00242. MYSc. 1 hit. [Graphical view]
PROSITE	PS51126. DILUTE. 1 hit. PS50096. IQ. 6 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MYO5A. human.
GenomeRNAi	4644.
NextBio	17896.
SOURCE	Search...

Entry information

Entry name

MYO5A_HUMAN

Accession

Primary (citable) accession number: Q9Y4I1
Secondary accession number(s): A8MZC5 , O60653, Q07902, Q16249, Q9UE30, Q9UE31

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 128 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.