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Entry version 57 (29 Sep 2021)
Sequence version 1 (22 Feb 2012)
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Protein
Submitted name:

Myoferlin

Gene

MYOF

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Submitted name:
MyoferlinImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MYOFImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3656, MYOF

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000138119

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000138119

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
H0YD14

PeptideAtlas

More...
PeptideAtlasi
H0YD14

PRoteomics IDEntifications database

More...
PRIDEi
H0YD14

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
37245

PTM databases

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
H0YD14

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138119, Expressed in nasal cavity epithelium and 239 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
H0YD14, baseline and differential

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
H0YD14, 1 interactor

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini498 – 626C2InterPro annotationAdd BLAST129
Domaini657 – 785C2InterPro annotationAdd BLAST129
Domaini930 – 1048C2InterPro annotationAdd BLAST119

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni313 – 342DisorderedSequence analysisAdd BLAST30

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili122 – 142Sequence analysisAdd BLAST21
Coiled coili403 – 423Sequence analysisAdd BLAST21

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ferlin family.ARBA annotation

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini

Coiled coilSequence analysis

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154741

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_001183_2_0_1

Family and domain databases

Conserved Domains Database

More...
CDDi
cd04017, C2D_Ferlin, 1 hit
cd04037, C2E_Ferlin, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.150, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000008, C2_dom
IPR035892, C2_domain_sf
IPR037723, C2D_Ferlin
IPR037724, C2E_Ferlin
IPR037721, Ferlin
IPR012560, Ferlin_A-domain
IPR012561, Ferlin_B-domain
IPR029999, Myoferlin
IPR006614, Peroxin/Ferlin

The PANTHER Classification System

More...
PANTHERi
PTHR12546, PTHR12546, 1 hit
PTHR12546:SF55, PTHR12546:SF55, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00168, C2, 3 hits
PF08165, FerA, 1 hit
PF08150, FerB, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239, C2, 3 hits
SM00694, DysFC, 2 hits
SM00693, DysFN, 2 hits
SM01200, FerA, 1 hit
SM01201, FerB, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49562, SSF49562, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50004, C2, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Fragment.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

H0YD14-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
XNYYYYLPWA HTKPVVTLTS YWEDISHRLD AVNTLLAMAE RLQTNIEALK
60 70 80 90 100
SGIQGKIPAN QLAELWLKLI DEVIEDTRYT LPLTEGKANV TVLDTQIRKL
110 120 130 140 150
RSRSLSQIHE AAVRMRSEAT DVKSTLAEIE DWLDKLMQLT EEPQNSMPDI
160 170 180 190 200
IIWMIRGEKR LAYARIPAHQ VLYSTSGENA SGKYCGKTQT IFLKYPQEKN
210 220 230 240 250
NGPKVPVELR VNIWLGLSAV EKKFNSFAEG TFTVFAEMYE NQALMFGKWG
260 270 280 290 300
TSGLVGRHKF SDVTGKIKLK REFFLPPKGW EWEGEWIVDP ERSLLTEADA
310 320 330 340 350
GHTEFTDEVY QNESRYPGGD WKPAEDTYTD ANGDKAASPS ELTCPPGWEW
360 370 380 390 400
EDDAWSYDIN RAVDEKGWEY GITIPPDHKP KSWVAAEKMY HTHRRRRLVR
410 420 430 440 450
KRKKDLTQTA SSTARAMEEL QDQEGWEYAS LIGWKFHWKQ RSSDTFRRRR
460 470 480 490 500
WRRKMAPSET HGAAAIFKLE GALGADTTED GDEKSLEKQK HSATTVFGAN
510 520 530 540 550
TPIVSCNFDR VYIYHLRCYV YQARNLLALD KDSFSDPYAH ICFLHRSKTT
560 570 580 590 600
EIIHSTLNPT WDQTIIFDEV EIYGEPQTVL QNPPKVIMEL FDNDQVGKDE
610 620 630 640 650
FLGRSIFSPV VKLNSEMDIT PKLLWHPVMN GDKACGDVLV TAELILRGKD
660 670 680 690 700
GSNLPILPPQ RAPNLYMVPQ GIRPVVQLTA IEILAWGLRN MKNFQMASIT
710 720 730 740 750
SPSLVVECGG ERVESVVIKN LKKTPNFPSS VLFMKVFLPK EELYMPPLVI
760 770 780 790 800
KVIDHRQFGR KPVVGQCTIE RLDRFRCDPY AGKEDIVPQL KASLLSAPPC
810 820 830 840 850
RDIVIEMEDT KPLLASKCLS SMSTALSKMA SPATVHLTEK EEEIVDWWSK
860 870 880 890 900
FYASSGEHEK CGQYIQKGYS KLKIYNCELE NVAEFEGLTD FSDTFKLYRG
910 920 930 940 950
KSDENEDPSV VGEFKGSFRI YPLPDDPSVP APPRQFRELP DSVPQECTVR
960 970 980 990 1000
IYIVRGLELQ PQDNNGLCDP YIKITLGKKV IEDRDHYIPN TLNPVFGRMY
1010 1020 1030 1040 1050
ELSCYLPQEK DLKISVYDYD TFTRDEKVGE TIIDLENRFL SRFGSHCGIP
1060 1070 1080 1090 1100
EEYCVSGVNT WRDQLRPTQL LQNVARFKGF PQPILSEDGS RIRYGGRDYS
1110 1120 1130 1140 1150
LDEFEANKIL HQHLGAPEER LALHILRTQG LVPEHVETRT LHSTFQPNIS
1160 1170
QILPACDHLE HQGRYLGREK HHRRGNE
Length:1,177
Mass (Da):134,823
Last modified:February 22, 2012 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8D6EF677ACDEE203
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q9NZM1MYOF_HUMAN
Myoferlin
MYOF FER1L3, KIAA1207
2,061Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section is used for sequence fragments to indicate that the residue at the extremity of the sequence is not the actual terminal residue in the complete protein sequence.<p><a href='/help/non_ter' target='_top'>More...</a></p>Non-terminal residuei1Imported1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AL360229 Genomic DNA No translation available.
AL365364 Genomic DNA No translation available.

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000463743; ENSP00000432708; ENSG00000138119

UCSC genome browser

More...
UCSCi
uc057uwv.1, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL360229 Genomic DNA No translation available.
AL365364 Genomic DNA No translation available.

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

Protein-protein interaction databases

IntActiH0YD14, 1 interactor

PTM databases

SwissPalmiH0YD14

Proteomic databases

MaxQBiH0YD14
PeptideAtlasiH0YD14
PRIDEiH0YD14
ProteomicsDBi37245

Genome annotation databases

EnsembliENST00000463743; ENSP00000432708; ENSG00000138119
UCSCiuc057uwv.1, human

Organism-specific databases

HGNCiHGNC:3656, MYOF
OpenTargetsiENSG00000138119
VEuPathDBiHostDB:ENSG00000138119

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000154741
HOGENOMiCLU_001183_2_0_1

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MYOF, human

Gene expression databases

BgeeiENSG00000138119, Expressed in nasal cavity epithelium and 239 other tissues
ExpressionAtlasiH0YD14, baseline and differential

Family and domain databases

CDDicd04017, C2D_Ferlin, 1 hit
cd04037, C2E_Ferlin, 1 hit
Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR000008, C2_dom
IPR035892, C2_domain_sf
IPR037723, C2D_Ferlin
IPR037724, C2E_Ferlin
IPR037721, Ferlin
IPR012560, Ferlin_A-domain
IPR012561, Ferlin_B-domain
IPR029999, Myoferlin
IPR006614, Peroxin/Ferlin
PANTHERiPTHR12546, PTHR12546, 1 hit
PTHR12546:SF55, PTHR12546:SF55, 1 hit
PfamiView protein in Pfam
PF00168, C2, 3 hits
PF08165, FerA, 1 hit
PF08150, FerB, 1 hit
SMARTiView protein in SMART
SM00239, C2, 3 hits
SM00694, DysFC, 2 hits
SM00693, DysFN, 2 hits
SM01200, FerA, 1 hit
SM01201, FerB, 1 hit
SUPFAMiSSF49562, SSF49562, 3 hits
PROSITEiView protein in PROSITE
PS50004, C2, 3 hits

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiH0YD14_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: H0YD14
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/TrEMBL: February 22, 2012
Last sequence update: February 22, 2012
Last modified: September 29, 2021
This is version 57 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiUnreviewed (UniProtKB/TrEMBL)
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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Proteomics identificationCombined sources, Reference proteomeImported
UniProt is an ELIXIR core data resource
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