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MYH14 myosin heavy chain 14 [ Homo sapiens (human) ]

Gene ID: 79784, updated on 4-Oct-2020

Summary

Official Symbol
MYH14provided by HGNC
Official Full Name
myosin heavy chain 14provided by HGNC
Primary source
HGNC:HGNC:23212
See related
Ensembl:ENSG00000105357 MIM:608568
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNA4; MHC16; MYH17; PNMHH; DFNA4A; myosin; FP17425; NMHC II-C; NMHC-II-C
Summary
This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression
Broad expression in colon (RPKM 39.5), duodenum (RPKM 33.8) and 16 other tissues See more
Orthologs

Genomic context

See MYH14 in Genome Data Viewer
Location:
19q13.33
Exon count:
46
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (50188186..50310540)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50706885..50813801)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372436 Neighboring gene small NF90 (ILF3) associated RNA D Neighboring gene IZUMO family member 2 Neighboring gene Sharpr-MPRA regulatory region 11330/13384 Neighboring gene uncharacterized LOC105372437 Neighboring gene potassium voltage-gated channel subfamily C member 3 Neighboring gene napsin B aspartic peptidase, pseudogene

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

Associated conditions

Description Tests
Deafness, autosomal dominant 4 Compare labs
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
GeneReviews: Not available
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
MedGen: C3280556 OMIM: 614369 GeneReviews: Not available
Compare labs

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 protease cleaves human myosin heavy chain in vitro PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13881, FLJ43092, KIAA2034, DKFZp667A1311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to actin-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
microfilament motor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin filament-based movement IEA
Inferred from Electronic Annotation
more info
 
actomyosin structure organization IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuronal action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
vocalization behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
actomyosin IDA
Inferred from Direct Assay
more info
PubMed 
brush border IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
growth cone IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
myosin II complex IDA
Inferred from Direct Assay
more info
PubMed 
myosin II filament IDA
Inferred from Direct Assay
more info
PubMed 
stress fiber IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myosin-14
Names
MYH14 variant protein
myosin heavy chain, non-muscle IIc
myosin, heavy chain 14, non-muscle
myosin, heavy polypeptide 14
non-muscle myosin heavy chain IIc
nonmuscle myosin heavy chain II-C
NP_001070654.1
NP_001139281.1
NP_079005.3
XP_006723449.1
XP_011525622.1
XP_011525623.1
XP_011525625.1
XP_024307489.1

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.

Genomic

  1. NG_011645.1 RefSeqGene

    Range
    4995..111913
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001077186.2NP_001070654.1  myosin-14 isoform 1

    See identical proteins and their annotated locations for NP_001070654.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. The resulting isoform (1) lacks an internal segment in the motor domain, compared to isoform 3.
    Source sequence(s)
    AB111886, AC008655, AC010515, AC020906, AK125082, AY165122, BC007877, BC018933
    Consensus CDS
    CCDS46151.1
    UniProtKB/Swiss-Prot
    Q7Z406
    UniProtKB/TrEMBL
    B3KWH4
    Related
    ENSP00000407879.1, ENST00000425460.5
    Conserved Domains (5) summary
    cd14930
    Location:119796
    MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
    pfam00063
    Location:108796
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8731953
    Myosin_tail_1; Myosin tail
    cd16269
    Location:16891706
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:16211721
    GBP_C; Guanylate-binding protein, C-terminal domain
  2. NM_001145809.2NP_001139281.1  myosin-14 isoform 3

    See identical proteins and their annotated locations for NP_001139281.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AB290169, AC020906, AK125082, BC007877, BC018933, BC129803, DB110776
    Consensus CDS
    CCDS54295.1
    UniProtKB/Swiss-Prot
    Q7Z406
    UniProtKB/TrEMBL
    A1L2Z2, B3KWH4
    Related
    ENSP00000493594.1, ENST00000642316.2
    Conserved Domains (5) summary
    cd14930
    Location:119829
    MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
    pfam00063
    Location:108829
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:9061986
    Myosin_tail_1; Myosin tail
    cd16269
    Location:17221739
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:16541754
    GBP_C; Guanylate-binding protein, C-terminal domain
  3. NM_024729.4NP_079005.3  myosin-14 isoform 2

    See identical proteins and their annotated locations for NP_079005.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, compared to variant 3. The resulting isoform (2) lacks two separate segments in the motor domain, compared to isoform 3.
    Source sequence(s)
    AB111886, AC008655, AC010515, AC020906, AY165122, BC007877, BC018933
    Consensus CDS
    CCDS59411.1
    UniProtKB/Swiss-Prot
    Q7Z406
    Related
    ENSP00000366169.3, ENST00000376970.6
    Conserved Domains (2) summary
    cd14930
    Location:119788
    MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
    cl25732
    Location:8651945
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    50188186..50310540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527320.2XP_011525622.1  myosin-14 isoform X1

    Conserved Domains (5) summary
    cd14930
    Location:159836
    MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
    pfam00063
    Location:148836
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:9131993
    Myosin_tail_1; Myosin tail
    cd16269
    Location:17291746
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:16611761
    GBP_C; Guanylate-binding protein, C-terminal domain
  2. XM_011527321.2XP_011525623.1  myosin-14 isoform X2

    Conserved Domains (5) summary
    cd14930
    Location:159828
    MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
    pfam00063
    Location:148828
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:9051985
    Myosin_tail_1; Myosin tail
    cd16269
    Location:17211738
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:16531753
    GBP_C; Guanylate-binding protein, C-terminal domain
  3. XM_006723386.4XP_006723449.1  myosin-14 isoform X3

    See identical proteins and their annotated locations for XP_006723449.1

    UniProtKB/Swiss-Prot
    Q7Z406
    Conserved Domains (5) summary
    cd14930
    Location:119796
    MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
    pfam00063
    Location:108796
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8731953
    Myosin_tail_1; Myosin tail
    cd16269
    Location:16891706
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:16211721
    GBP_C; Guanylate-binding protein, C-terminal domain
  4. XM_024451721.1XP_024307489.1  myosin-14 isoform X4

    Conserved Domains (2) summary
    cd14930
    Location:119788
    MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
    cl25732
    Location:8651945
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_011527323.2XP_011525625.1  myosin-14 isoform X3

    See identical proteins and their annotated locations for XP_011525625.1

    UniProtKB/Swiss-Prot
    Q7Z406
    Conserved Domains (5) summary
    cd14930
    Location:119796
    MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
    pfam00063
    Location:108796
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8731953
    Myosin_tail_1; Myosin tail
    cd16269
    Location:16891706
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:16211721
    GBP_C; Guanylate-binding protein, C-terminal domain
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