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MYBPHL myosin binding protein H like [ Homo sapiens (human) ]

Gene ID: 343263, updated on 5-Aug-2022

Summary

Official Symbol
MYBPHLprovided by HGNC
Official Full Name
myosin binding protein H likeprovided by HGNC
Primary source
HGNC:HGNC:30434
See related
Ensembl:ENSG00000221986 MIM:619807; AllianceGenome:HGNC:30434
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
Summary
This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Expression
Restricted expression toward heart (RPKM 11.5) See more
Orthologs
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Genomic context

See MYBPHL in Genome Data Viewer
Location:
1p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109292365..109307011, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109325168..109339817, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109834987..109849633, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 472 Neighboring gene proline and serine rich coiled-coil 1 Neighboring gene sortilin 1 Neighboring gene proteasome 20S subunit alpha 5

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in myofilament IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcomere IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myosin-binding protein H-like

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.

Genomic

  1. NG_032757.1 RefSeqGene

    Range
    5031..19677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001010985.3NP_001010985.2  myosin-binding protein H-like isoform 1

    See identical proteins and their annotated locations for NP_001010985.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AK129834, AL390252, BC132900
    Consensus CDS
    CCDS30793.1
    UniProtKB/Swiss-Prot
    A2RUH7, Q5T2Z7
    Related
    ENSP00000349678.1, ENST00000357155.2
    Conserved Domains (5) summary
    cd00096
    Location:280344
    Ig; Immunoglobulin domain
    smart00410
    Location:61142
    IG_like; Immunoglobulin like
    cd00063
    Location:146235
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:261350
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:70142
    Ig; Immunoglobulin domain
  2. NM_001265613.2NP_001252542.1  myosin-binding protein H-like isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AL390252, BC144471
    UniProtKB/Swiss-Prot
    A2RUH7
    Conserved Domains (4) summary
    cd00096
    Location:257321
    Ig; Immunoglobulin domain
    cd00063
    Location:123212
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:238327
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:70120
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    109292365..109307011 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001175.2XP_016856664.1  myosin-binding protein H-like isoform X2

    UniProtKB/Swiss-Prot
    A2RUH7
    Conserved Domains (4) summary
    cd00096
    Location:257321
    Ig; Immunoglobulin domain
    cd00063
    Location:123212
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:238327
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:70120
    Ig; Immunoglobulin domain
  2. XM_017001173.2XP_016856662.1  myosin-binding protein H-like isoform X1

    UniProtKB/Swiss-Prot
    A2RUH7, Q5T2Z7
    Conserved Domains (5) summary
    cd00096
    Location:280344
    Ig; Immunoglobulin domain
    smart00410
    Location:61142
    IG_like; Immunoglobulin like
    cd00063
    Location:146235
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:261350
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:70142
    Ig; Immunoglobulin domain
  3. XM_017001174.2XP_016856663.1  myosin-binding protein H-like isoform X1

    UniProtKB/Swiss-Prot
    A2RUH7, Q5T2Z7
    Conserved Domains (5) summary
    cd00096
    Location:280344
    Ig; Immunoglobulin domain
    smart00410
    Location:61142
    IG_like; Immunoglobulin like
    cd00063
    Location:146235
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:261350
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:70142
    Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    109325168..109339817 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)