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Protein

Myosin-binding protein H-like

Gene

MYBPHL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin-binding protein H-like
Gene namesi
Name:MYBPHL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:30434. MYBPHL.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA147357579.

Polymorphism and mutation databases

BioMutaiMYBPHL.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 354354Myosin-binding protein H-likePRO_0000330019Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei38 – 381PhosphoserineBy similarity
Disulfide bondi282 ↔ 333PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

PaxDbiA2RUH7.
PRIDEiA2RUH7.

PTM databases

PhosphoSiteiA2RUH7.

Expressioni

Gene expression databases

BgeeiENSG00000221986.
CleanExiHS_MYBPHL.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FHL3Q136433EBI-9088235,EBI-741101

Protein-protein interaction databases

BioGridi131240. 7 interactions.
IntActiA2RUH7. 3 interactions.
STRINGi9606.ENSP00000349678.

Structurei

3D structure databases

ProteinModelPortaliA2RUH7.
SMRiA2RUH7. Positions 14-248, 260-350.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini45 – 13995Ig-like C2-type 1Add
BLAST
Domaini148 – 23891Fibronectin type-IIIPROSITE-ProRule annotationAdd
BLAST
Domaini261 – 34585Ig-like C2-type 2Add
BLAST

Sequence similaritiesi

Belongs to the immunoglobulin superfamily. MyBP family.Curated
Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiENOG410IF9Q. Eukaryota.
ENOG410YAE6. LUCA.
GeneTreeiENSGT00840000129685.
HOGENOMiHOG000290713.
HOVERGENiHBG056788.
InParanoidiA2RUH7.
OMAiPIEEHPK.
OrthoDBiEOG091G07IP.
PhylomeDBiA2RUH7.
TreeFamiTF334735.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
InterProiIPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
PF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
SM00409. IG. 2 hits.
SM00408. IGc2. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
SSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A2RUH7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEAATAPEVA AGSKLKVKEA SPADAEPPQA SPGQGAGSPT PQLLPPIEEH
60 70 80 90 100
PKIWLPRALR QTYIRKVGDT VNLLIPFQGK PKPQAIWTHD GCALDTRRVS
110 120 130 140 150
VRNGEQDSIL FIREAQRADS GRYQLRVQLG GLEATATIDI LVIERPGPPQ
160 170 180 190 200
SIKLVDVWGF SATLEWTPPQ DTGNTALLGY TVQKADTKSG LWFTVLEHYH
210 220 230 240 250
RTSCIVSDLI IGNSYAFRVF AENQCGLSET APITTDLAHI QKAATVYKTK
260 270 280 290 300
GFAQRDFSEA PKFTQPLADC TTVTGYNTQL FCCVRASPRP KIIWLKNKMD
310 320 330 340 350
IQGNPKYRAL THLGICSLEI RKPGPFDGGI YTCKAVNPLG EASVDCRVDV

KVPN
Length:354
Mass (Da):38,733
Last modified:November 2, 2010 - v2
Checksum:i6DD100AAC995587C
GO
Isoform 2 (identifier: A2RUH7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     121-143: Missing.

Note: No experimental confirmation available.
Show »
Length:331
Mass (Da):36,251
Checksum:i4E2700516668C062
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti269 – 2691D → N.2 Publications
Corresponds to variant rs629001 [ dbSNP | Ensembl ].
VAR_042686

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei121 – 14323Missing in isoform 2. 1 PublicationVSP_055601Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL390252 Genomic DNA. Translation: CAI13179.1.
CH471122 Genomic DNA. Translation: EAW56379.1.
BC132900 mRNA. Translation: AAI32901.1.
BC132902 mRNA. Translation: AAI32903.1.
BC144471 mRNA. Translation: AAI44472.1.
CCDSiCCDS30793.1. [A2RUH7-1]
RefSeqiNP_001010985.2. NM_001010985.2. [A2RUH7-1]
NP_001252542.1. NM_001265613.1. [A2RUH7-2]
UniGeneiHs.443402.

Genome annotation databases

EnsembliENST00000357155; ENSP00000349678; ENSG00000221986. [A2RUH7-1]
GeneIDi343263.
KEGGihsa:343263.
UCSCiuc001dxk.1. human. [A2RUH7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL390252 Genomic DNA. Translation: CAI13179.1.
CH471122 Genomic DNA. Translation: EAW56379.1.
BC132900 mRNA. Translation: AAI32901.1.
BC132902 mRNA. Translation: AAI32903.1.
BC144471 mRNA. Translation: AAI44472.1.
CCDSiCCDS30793.1. [A2RUH7-1]
RefSeqiNP_001010985.2. NM_001010985.2. [A2RUH7-1]
NP_001252542.1. NM_001265613.1. [A2RUH7-2]
UniGeneiHs.443402.

3D structure databases

ProteinModelPortaliA2RUH7.
SMRiA2RUH7. Positions 14-248, 260-350.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131240. 7 interactions.
IntActiA2RUH7. 3 interactions.
STRINGi9606.ENSP00000349678.

PTM databases

PhosphoSiteiA2RUH7.

Polymorphism and mutation databases

BioMutaiMYBPHL.

Proteomic databases

PaxDbiA2RUH7.
PRIDEiA2RUH7.

Protocols and materials databases

DNASUi343263.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357155; ENSP00000349678; ENSG00000221986. [A2RUH7-1]
GeneIDi343263.
KEGGihsa:343263.
UCSCiuc001dxk.1. human. [A2RUH7-1]

Organism-specific databases

CTDi343263.
GeneCardsiMYBPHL.
HGNCiHGNC:30434. MYBPHL.
neXtProtiNX_A2RUH7.
PharmGKBiPA147357579.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF9Q. Eukaryota.
ENOG410YAE6. LUCA.
GeneTreeiENSGT00840000129685.
HOGENOMiHOG000290713.
HOVERGENiHBG056788.
InParanoidiA2RUH7.
OMAiPIEEHPK.
OrthoDBiEOG091G07IP.
PhylomeDBiA2RUH7.
TreeFamiTF334735.

Miscellaneous databases

ChiTaRSiMYBPHL. human.
GenomeRNAii343263.
PROiA2RUH7.

Gene expression databases

BgeeiENSG00000221986.
CleanExiHS_MYBPHL.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
InterProiIPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
PF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
SM00409. IG. 2 hits.
SM00408. IGc2. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
SSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMBPHL_HUMAN
AccessioniPrimary (citable) accession number: A2RUH7
Secondary accession number(s): B7ZME5, Q5T2Z7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: November 2, 2010
Last modified: September 7, 2016
This is version 88 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.