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    MYO1B myosin IB [ Homo sapiens (human) ]

    Gene ID: 4430, updated on 28-Oct-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 trans-Golgi network membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in liver (RPKM 53.1), lung (RPKM 45.2) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYO1B in Genome Data Viewer
    Location:
    2q32.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (191245404..191425386)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (191734489..191914303)
    RS_2024_09 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 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_2024_08

    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