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MYO1B myosin IB [ Homo sapiens (human) ]

Gene ID: 4430, updated on 17-Jun-2019

Summary

Official Symbol
MYO1Bprovided by HGNC
Official Full Name
myosin IBprovided by HGNC
Primary source
HGNC:HGNC:7596
See related
Ensembl:ENSG00000128641 MIM:606537
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
Expression
Broad expression in liver (RPKM 53.1), lung (RPKM 45.2) and 23 other tissues See more
Orthologs

Genomic context

See MYO1B in Genome Data Viewer
Location:
2q32.3
Exon count:
34
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (191245400..191425386)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (192110107..192290115)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373804 Neighboring gene high mobility group box 1 pseudogene 27 Neighboring gene Sharpr-MPRA regulatory region 10229 Neighboring gene RNA, U6 small nuclear 1045, pseudogene Neighboring gene uncharacterized LOC107985833 Neighboring gene nucleic acid binding protein 1

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin-dependent ATPase activity IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
microfilament motor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
microfilament motor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol-3,4,5-trisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol-4,5-bisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
actin filament bundle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin filament-based movement ISS
Inferred from Sequence or Structural Similarity
more info
 
post-Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
actin filament IDA
Inferred from Direct Assay
more info
PubMed 
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
brush border ISS
Inferred from Sequence or Structural Similarity
more info
 
cell periphery ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
filopodium ISS
Inferred from Sequence or Structural Similarity
more info
 
myosin complex IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
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)

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
    O43795
    UniProtKB/TrEMBL
    B0I1S9
    Related
    ENSP00000376132.3, ENST00000392318.8
    Conserved Domains (2) summary
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9411116
    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
    O43795
    UniProtKB/TrEMBL
    B0I1S9
    Related
    ENSP00000306382.4, ENST00000304164.8
    Conserved Domains (2) summary
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9411116
    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 (2) summary
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9121087
    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 (4) summary
    smart00015
    Location:749771
    IQ; Calmodulin-binding motif
    smart00242
    Location:16701
    MYSc; Myosin. Large ATPases
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9121086
    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 (2) summary
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:8831058
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    191245400..191425386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452915.1XP_024308683.1  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:9031078
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
  2. XM_024452914.1XP_024308682.1  unconventional myosin-Ib isoform X2

    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
  3. XM_005246572.1XP_005246629.1  unconventional myosin-Ib isoform X1

    See identical proteins and their annotated locations for XP_005246629.1

    UniProtKB/Swiss-Prot
    O43795
    UniProtKB/TrEMBL
    B0I1S9
    Conserved Domains (2) summary
    cd01378
    Location:29688
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:9411116
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
  4. XM_017004158.1XP_016859647.1  unconventional myosin-Ib isoform X4

    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
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