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

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (109292365..109307011, complement)
RS_2023_10	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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A proof-of-concept study for the pathogenetic role of enhancer hypomethylation of MYBPHL in multiple myeloma.
Title: A proof-of-concept study for the pathogenetic role of enhancer hypomethylation of MYBPHL in multiple myeloma.
Myosin binding protein H-like (MYBPHL): a promising biomarker to predict atrial damage.
Title: Myosin binding protein H-like (MYBPHL): a promising biomarker to predict atrial damage.
MYBPHL truncations may increase risk for human arrhythmias and cardiomyopathy.
Title: Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help

Preferred Names: myosin-binding protein H-like

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_032757.1 RefSeqGene

Range

5031..19677

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001010985.3 → NP_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, B7ZME5, Q5T2Z7

Related

ENSP00000349678.1, ENST00000357155.2

Conserved Domains (5) summary

cd00096
Location:280 → 344

Ig; Immunoglobulin domain

smart00410
Location:61 → 142

IG_like; Immunoglobulin like

cd00063
Location:146 → 235

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:261 → 350

I-set; Immunoglobulin I-set domain

cl11960
Location:70 → 142

Ig; Immunoglobulin domain
NM_001265613.2 → NP_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:257 → 321

Ig; Immunoglobulin domain

cd00063
Location:123 → 212

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:238 → 327

I-set; Immunoglobulin I-set domain

cl11960
Location:70 → 120

Ig; Immunoglobulin domain

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

109292365..109307011 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A2RUH7

Conserved Domains (4) summary

cd00096
Location:257 → 321

Ig; Immunoglobulin domain

cd00063
Location:123 → 212

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:238 → 327

I-set; Immunoglobulin I-set domain

cl11960
Location:70 → 120

Ig; Immunoglobulin domain
XM_017001173.2 → XP_016856662.1 myosin-binding protein H-like isoform X1

UniProtKB/Swiss-Prot

A2RUH7, B7ZME5, Q5T2Z7

Conserved Domains (5) summary

cd00096
Location:280 → 344

Ig; Immunoglobulin domain

smart00410
Location:61 → 142

IG_like; Immunoglobulin like

cd00063
Location:146 → 235

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:261 → 350

I-set; Immunoglobulin I-set domain

cl11960
Location:70 → 142

Ig; Immunoglobulin domain
XM_017001174.2 → XP_016856663.1 myosin-binding protein H-like isoform X1

UniProtKB/Swiss-Prot

A2RUH7, B7ZME5, Q5T2Z7

Conserved Domains (5) summary

cd00096
Location:280 → 344

Ig; Immunoglobulin domain

smart00410
Location:61 → 142

IG_like; Immunoglobulin like

cd00063
Location:146 → 235

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:261 → 350

I-set; Immunoglobulin I-set domain

cl11960
Location:70 → 142

Ig; Immunoglobulin domain