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MYO1B myosin IB [ Homo sapiens (human) ]

Gene ID: 4430, updated on 5-Mar-2024

Summary

Official Symbol
MYO1Bprovided by HGNC
Official Full Name
myosin IBprovided by HGNC
Primary source
HGNC:HGNC:7596
See related
Ensembl:ENSG00000128641 MIM:606537; AllianceGenome:HGNC:7596
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MMIa; myr1; MYH-1c; MMI-alpha
Summary
Enables ATP binding activity; actin filament binding activity; and microfilament motor activity. Involved in actin filament organization and post-Golgi vesicle-mediated transport. Located in several cellular components, including actin filament; endosome; and perinuclear region of cytoplasm. Colocalizes with trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in liver (RPKM 53.1), lung (RPKM 45.2) and 23 other tissues See more
Orthologs
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Genomic context

See MYO1B in Genome Data Viewer
Location:
2q32.3
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (191245404..191425386)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (191734489..191914303)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (192110130..192290112)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373804 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:192053185-192054384 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192055155-192055352 Neighboring gene high mobility group box 1 pseudogene 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16881 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:192110016-192110638 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:192112141-192112934 Neighboring gene MYO1B antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 1767 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:192146127-192146627 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:192145626-192146126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:192168644-192169562 Neighboring gene Sharpr-MPRA regulatory region 10229 Neighboring gene RNA, U6 small nuclear 1045, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192310324-192310491 Neighboring gene NANOG hESC enhancer GRCh37_chr2:192320787-192321298 Neighboring gene NANOG hESC enhancer GRCh37_chr2:192343668-192344568 Neighboring gene uncharacterized LOC107985833 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192406286-192406448 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:192428730-192429929 Neighboring gene Sharpr-MPRA regulatory region 3391 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5925 Neighboring gene uncharacterized LOC124905959

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables actin filament binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables cadherin binding HDA PubMed 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables microfilament motor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables microfilament motor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidylinositol-3,4,5-trisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidylinositol-4,5-bisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in actin filament bundle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in actin filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in actin filament-based movement IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in actin filament-based movement ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in post-Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in actin filament IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical part of cell IEA
Inferred from Electronic Annotation
more info
 
is_active_in brush border IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in brush border ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell periphery ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in filopodium ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in microvillus IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of myosin complex IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with trans-Golgi network membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
unconventional myosin-Ib
Names
MYO1B variant protein
myosin-I alpha

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001130158.3NP_001123630.1  unconventional myosin-Ib isoform 1

    See identical proteins and their annotated locations for NP_001123630.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Both variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AB290176, AI751497, AJ001381, BC060849, BF061446, CA435949, DB461518
    Consensus CDS
    CCDS46477.1
    UniProtKB/Swiss-Prot
    O43794, O43795, Q7Z6L5
    UniProtKB/TrEMBL
    B0I1S9
    Related
    ENSP00000376132.3, ENST00000392318.8
    Conserved Domains (3) summary
    smart00015
    Location:749771
    IQ; Calmodulin-binding motif
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9411118
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
  2. NM_001161819.3NP_001155291.1  unconventional myosin-Ib isoform 1

    See identical proteins and their annotated locations for NP_001155291.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Both variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AB290176, AI751497, AJ001381, BC053558, BC060849, BF061446, BQ027157, CN295039
    Consensus CDS
    CCDS46477.1
    UniProtKB/Swiss-Prot
    O43794, O43795, Q7Z6L5
    UniProtKB/TrEMBL
    B0I1S9
    Related
    ENSP00000306382.4, ENST00000304164.8
    Conserved Domains (3) summary
    smart00015
    Location:749771
    IQ; Calmodulin-binding motif
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9411118
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
  3. NM_001330237.2NP_001317166.1  unconventional myosin-Ib isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC068056, AC092614, AC133534
    Consensus CDS
    CCDS82546.1
    UniProtKB/TrEMBL
    E9PDF6
    Related
    ENSP00000376130.1, ENST00000392316.5
    Conserved Domains (3) summary
    smart00015
    Location:749771
    IQ; Calmodulin-binding motif
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9121089
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
  4. NM_001330238.2NP_001317167.1  unconventional myosin-Ib isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AC068056, AC092614, AC133534
    Conserved Domains (3) summary
    smart00015
    Location:749771
    IQ; Calmodulin-binding motif
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9121089
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
  5. NM_012223.5NP_036355.2  unconventional myosin-Ib isoform 2

    See identical proteins and their annotated locations for NP_036355.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB290176, AI751497, AJ001381, BC060849, BF061446, CA435949
    Consensus CDS
    CCDS2311.1
    UniProtKB/Swiss-Prot
    O43795
    UniProtKB/TrEMBL
    B0I1S9
    Related
    ENSP00000341903.4, ENST00000339514.8
    Conserved Domains (3) summary
    smart00015
    Location:749771
    IQ; Calmodulin-binding motif
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:8831060
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    191245404..191425386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444410.1XP_047300366.1  unconventional myosin-Ib isoform X1

  2. XM_047444412.1XP_047300368.1  unconventional myosin-Ib isoform X4

  3. XM_024452914.2XP_024308682.1  unconventional myosin-Ib isoform X3

    Conserved Domains (3) summary
    smart00015
    Location:769791
    IQ; Calmodulin-binding motif
    cd01378
    Location:49708
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9321107
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
  4. XM_024452915.2XP_024308683.1  unconventional myosin-Ib isoform X6

    Conserved Domains (3) summary
    smart00015
    Location:769791
    IQ; Calmodulin-binding motif
    cd01378
    Location:49708
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9031078
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
  5. XM_047444415.1XP_047300371.1  unconventional myosin-Ib isoform X6

  6. XM_047444411.1XP_047300367.1  unconventional myosin-Ib isoform X1

  7. XM_005246572.2XP_005246629.1  unconventional myosin-Ib isoform X2

    See identical proteins and their annotated locations for XP_005246629.1

    UniProtKB/Swiss-Prot
    O43794, O43795, Q7Z6L5
    UniProtKB/TrEMBL
    B0I1S9
    Conserved Domains (3) summary
    smart00015
    Location:749771
    IQ; Calmodulin-binding motif
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9411118
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
  8. XM_047444413.1XP_047300369.1  unconventional myosin-Ib isoform X5

  9. XM_017004158.2XP_016859647.1  unconventional myosin-Ib isoform X7

    Conserved Domains (3) summary
    smart00242
    Location:1580
    MYSc; Myosin. Large ATPases
    cd01378
    Location:1567
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:820994
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    191734489..191914303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342133.1XP_054198108.1  unconventional myosin-Ib isoform X1

  2. XM_054342137.1XP_054198112.1  unconventional myosin-Ib isoform X4

  3. XM_054342136.1XP_054198111.1  unconventional myosin-Ib isoform X3

  4. XM_054342139.1XP_054198114.1  unconventional myosin-Ib isoform X6

  5. XM_054342140.1XP_054198115.1  unconventional myosin-Ib isoform X6

  6. XM_054342134.1XP_054198109.1  unconventional myosin-Ib isoform X1

  7. XM_054342135.1XP_054198110.1  unconventional myosin-Ib isoform X2

    UniProtKB/Swiss-Prot
    O43794, O43795, Q7Z6L5
    UniProtKB/TrEMBL
    B0I1S9
  8. XM_054342138.1XP_054198113.1  unconventional myosin-Ib isoform X5

  9. XM_054342141.1XP_054198116.1  unconventional myosin-Ib isoform X7