Q9UBC5 (MYO1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Unconventional myosin-Ia

Alternative name(s):
Brush border myosin I
Short name=BBM-I
Short name=BBMI
Myosin I heavy chain
Short name=MIHC

Gene names

Name:	MYO1A
Synonyms:	MYHL

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	1043 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in directing the movement of organelles along actin filaments Potential.
Involvement in disease	Deafness, autosomal dominant, 48 (DFNA48) [MIM:607841]: 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.5
Sequence similarities	Contains 3 IQ domains. Contains 1 myosin head-like domain.
Caution	Represents a unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1).

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Disease	Deafness Disease mutation Non-syndromic deafness
Domain	Repeat
Ligand	ATP-binding Actin-binding Calmodulin-binding Nucleotide-binding
Molecular function	Motor protein Myosin
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	microvillus assembly Inferred from electronic annotation. Source: Compara sensory perception of sound Inferred from mutant phenotype Ref.5. Source: UniProtKB vesicle localization Inferred from mutant phenotype PubMed 8692943. Source: UniProtKB
Cellular_component	apical plasma membrane Inferred from electronic annotation. Source: Compara basal plasma membrane Inferred from electronic annotation. Source: Compara basolateral plasma membrane Inferred from direct assay Ref.3. Source: UniProtKB brush border Inferred from direct assay Ref.3. Source: UniProtKB cortical actin cytoskeleton Inferred from direct assay PubMed 8692943. Source: UniProtKB filamentous actin Inferred from direct assay Ref.3. Source: UniProtKB lateral plasma membrane Inferred from direct assay Ref.3. Source: UniProtKB microvillus Inferred from direct assay Ref.3. Source: UniProtKB myosin complex Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW motor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1043	1043	Unconventional myosin-Ia		PRO_0000123438
Regions
	Domain	1 – 681	681	Myosin head-like
	Domain	697 – 719	23	IQ 1
	Domain	720 – 742	23	IQ 2
	Domain	743 – 772	30	IQ 3
	Nucleotide binding	101 – 108	8	ATP Potential
	Region	571 – 593	23	Actin-binding Potential
Natural variations
	Natural variant	116	1	S → SS in DFNA48. Ref.5		VAR_015945
	Natural variant	306	1	V → M in DFNA48; unknown pathological significance. Ref.5 Corresponds to variant rs55679042 [ dbSNP | Ensembl ].		VAR_015946
	Natural variant	385	1	E → D in DFNA48. Ref.5		VAR_015947
	Natural variant	426	1	P → L. Corresponds to variant rs4759043 [ dbSNP | Ensembl ].		VAR_050207
	Natural variant	506	1	C → S. Corresponds to variant rs12297756 [ dbSNP | Ensembl ].		VAR_050208
	Natural variant	600	1	F → L. Corresponds to variant rs2270738 [ dbSNP | Ensembl ].		VAR_020320
	Natural variant	662	1	G → E in DFNA48; unknown pathological significance. Ref.5 Corresponds to variant rs33962952 [ dbSNP | Ensembl ].		VAR_015948
	Natural variant	674	1	G → D in DFNA48. Ref.5		VAR_015949
	Natural variant	797	1	S → F in DFNA48. Ref.5		VAR_015950
	Natural variant	910	1	S → P in DFNA48. Ref.5		VAR_015951
	Natural variant	996	1	T → I. Corresponds to variant rs17119344 [ dbSNP | Ensembl ].		VAR_050209
Experimental info
	Sequence conflict	446	1	Q → P in AAC27437. Ref.3
	Sequence conflict	712	1	R → G in AAC27437. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9UBC5 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: EE5D79D9D6E085DC	FASTA	1,043	118,401
	10 20 30 40 50 60 MPLLEGSVGV EDLVLLEPLV EESLLKNLQL RYENKEIYTY IGNVVISVNP YQQLPIYGPE 70 80 90 100 110 120 FIAKYQDYTF YELKPHIYAL ANVAYQSLRD RDRDQCILIT GESGSGKTEA SKLVMSYVAA 130 140 150 160 170 180 VCGKGEQVNS VKEQLLQSNP VLEAFGNAKT IRNNNSSRFG KYMDIEFDFK GSPLGGVITN 190 200 210 220 230 240 YLLEKSRLVK QLKGERNFHI FYQLLAGADE QLLKALKLER DTTGYAYLNH EVSRVDGMDD 250 260 270 280 290 300 ASSFRAVQSA MAVIGFSEEE IRQVLEVTSM VLKLGNVLVA DEFQASGIPA SGIRDGRGVR 310 320 330 340 350 360 EIGEMVGLNS EEVERALCSR TMETAKEKVV TALNVMQAQY ARDALAKNIY SRLFDWIVNR 370 380 390 400 410 420 INESIKVGIG EKKKVMGVLD IYGFEILEDN SFEQFVINYC NEKLQQVFIE MTLKEEQEEY 430 440 450 460 470 480 KREGIPWTKV DYFDNGIICK LIEHNQRGIL AMLDEECLRP GVVSDSTFLA KLNQLFSKHG 490 500 510 520 530 540 HYESKVTQNA QRQYDHTMGL SCFRICHYAG KVTYNVTSFI DKNNDLLFRD LLQAMWKAQH 550 560 570 580 590 600 PLLRSLFPEG NPKQASLKRP PTAGAQFKSS VAILMKNLYS KSPNYIRCIK PNEHQQRGQF 610 620 630 640 650 660 SSDLVATQAR YLGLLENVRV RRAGYAHRQG YGPFLERYRL LSRSTWPHWN GGDREGVEKV 670 680 690 700 710 720 LGELSMSSGE LAFGKTKIFI RSPKTLFYLE EQRRLRLQQL ATLIQKIYRG WRCRTHYQLM 730 740 750 760 770 780 RKSQILISSW FRGNMQKKCY GKIKASVLLI QAFVRGWKAR KNYRKYFRSE AALTLADFIY 790 800 810 820 830 840 KSMVQKFLLG LKNNLPSTNV LDKTWPAAPY KCLSTANQEL QQLFYQWKCK RFRDQLSPKQ 850 860 870 880 890 900 VEILREKLCA SELFKGKKAS YPQSVPIPFC GDYIGLQGNP KLQKLKGGEE GPVLMAEAVK 910 920 930 940 950 960 KVNRGNGKTS SRILLLTKGH VILTDTKKSQ AKIVIGLDNV AGVSVTSLKD GLFSLHLSEM 970 980 990 1000 1010 1020 SSVGSKGDFL LVSEHVIELL TKMYRAVLDA TQRQLTVTVT EKFSVRFKEN SVAVKVVQGP 1030 1040 AGGDNSKLRY KKKGSHCLEV TVQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human brush border myosin I." Bikle D.D., Munson S.J. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Intestine.
[2]	"Brush border myosin I (BBMI): a basally localized transcript in human jejunal enterocytes." Li W., Wang J., Coluccio L.M., Matsudaira P., Grand R.J. J. Histochem. Cytochem. 48:89-94(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Jejunum.
[3]	"Human brush border myosin-I and myosin-Ic expression in human intestine and Caco-2BBe cells." Skowron J.F., Bement W.M., Mooseker M.S. Cell Motil. Cytoskeleton 41:308-324(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[5]	"Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss." Donaudy F., Ferrara A., Esposito L., Hertzano R., Ben-David O., Bell R.E., Melchionda S., Zelante L., Avraham K.B., Gasparini P. Am. J. Hum. Genet. 72:1571-1577(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DFNA48 SER-116 INS; MET-306; ASP-385; GLU-662; ASP-674; PHE-797 AND PRO-910.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF127026 mRNA. Translation: AAD31189.1. AF105424 mRNA. Translation: AAC78645.1. AF009961 mRNA. Translation: AAC27437.1. BC059387 mRNA. Translation: AAH59387.1.
IPI	IPI00294386.
RefSeq	NP_001242970.1. NM_001256041.1. NP_005370.1. NM_005379.3.
UniGene	Hs.5394.
3D structure databases
ProteinModelPortal	Q9UBC5.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UBC5. 2 interactions.
MINT	MINT-1137503.
STRING	9606.ENSP00000300119.
PTM databases
PhosphoSite	Q9UBC5.
Polymorphism databases
DMDM	13431715.
Proteomic databases
PaxDb	Q9UBC5.
PRIDE	Q9UBC5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000300119; ENSP00000300119; ENSG00000166866. ENST00000442789; ENSP00000393392; ENSG00000166866.
GeneID	4640.
KEGG	hsa:4640.
UCSC	uc001smw.4. human.
Organism-specific databases
CTD	4640.
GeneCards	GC12M057422.
HGNC	HGNC:7595. MYO1A.
HPA	HPA041633.
MIM	601478. gene. 607841. phenotype.
neXtProt	NX_Q9UBC5.
Orphanet	90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKB	PA31397.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5022.
HOGENOM	HOG000260264.
HOVERGEN	HBG062373.
InParanoid	Q9UBC5.
KO	K10356.
OMA	DNSKLRY.
OrthoDB	EOG4XD3QB.
PhylomeDB	Q9UBC5.
Gene expression databases
ArrayExpress	Q9UBC5.
Bgee	Q9UBC5.
CleanEx	HS_MYO1A.
Genevestigator	Q9UBC5.
GermOnline	ENSG00000166866. Homo sapiens.
Family and domain databases
InterPro	IPR000048. IQ_motif_EF-hand-BS. IPR001609. Myosin_head_motor_dom. IPR010926. Myosin_tail_2. [Graphical view]
Pfam	PF00612. IQ. 2 hits. PF00063. Myosin_head. 1 hit. PF06017. Myosin_TH1. 1 hit. [Graphical view]
PRINTS	PR00193. MYOSINHEAVY.
SMART	SM00015. IQ. 3 hits. SM00242. MYSc. 1 hit. [Graphical view]
PROSITE	PS50096. IQ. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4640.
NextBio	17876.
SOURCE	Search...

Entry information

Entry name

MYO1A_HUMAN

Accession

Primary (citable) accession number: Q9UBC5
Secondary accession number(s): Q9UQD7

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 120 of the entry and version 1 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.