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Protein

Otoferlin

Gene

Otof

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation 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 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

Key calcium ion sensor involved in the Ca2+-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes.3 Publications

Miscellaneous

Mice lacking Otof display hearing loss. Both outer hair cells (OHCs) and the afferent auditory pathway are functional. Despite normal inner hair cells (IHCs) and ribbon synapse ultrastructures, these mice exhibit an almost complete abolition of IHC synaptic exocytosis in response to cell depolarization.

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Ca2+Note: Binds Ca2+. The ions are bound to the C2 1 domain.

<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 - Molecular functioni

GO - Biological processi

  • sensory perception of sound Source: UniProtKB-KW
  • synaptic vesicle exocytosis Source: UniProtKB
  • synaptic vesicle priming Source: CACAO

<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>Keywordsi

Biological processHearing
LigandCalcium

<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
Recommended name:
Otoferlin
Alternative name(s):
Fer-1-like protein 2
<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:Otof
Synonyms:Fer1l2
<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>OrganismiMus musculus (Mouse)
<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 identifieri10090 [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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
<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
  • UP000000589 <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: Unplaced

Organism-specific databases

Mouse genome database (MGD) from Mouse Genome Informatics (MGI)

More...
MGIi
MGI:1891247 Otof

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 1963CytoplasmicSequence analysisAdd BLAST1963
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1964 – 1984HelicalSequence analysisAdd BLAST21
Topological domaini1985 – 1997ExtracellularSequence analysisAdd BLAST13

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasmic vesicle, Endoplasmic reticulum, Membrane, Synapse

<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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000578821 – 1997OtoferlinAdd BLAST1997

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9ESF1

PRoteomics IDEntifications database

More...
PRIDEi
Q9ESF1

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9ESF1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9ESF1

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform 1 is expressed in cochlea and brain. Expressed in the cochlear and vestibular hair cells. Expressed in both inner and outer hair cells (IHCs and OHCs) and cochlear ganglions neurons at postnatal day 2 (P2) and 6 (P6). Expressed only in IHCs at postnatal day 60 (P60) (at protein level). Strongly expressed in brain and inner ear. In the inner ear, it is mainly expressed in the cochlear IHC and vestibular type I sensory hair cells. Weakly expressed in eye, heart, skeletal muscle, liver, kidney, lung and testis.4 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in the organ of Corti in the inner hair cells (IHCs), but not in the outer hair cells (OHCs) at 16 dpc. Expressed strongly in the IHCs and faintly in the OHCs at 18 dpc (at protein level).1 Publication

Gene expression databases

CleanEx database of gene expression profiles

More...
CleanExi
MM_OTOF

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SNAP25; the interaction is direct. Interacts with STX1; the interaction is direct. Interacts with RAB8B.2 Publications

Protein-protein interaction databases

Protein interaction database and analysis system

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IntActi
Q9ESF1, 1 interactor

STRING: functional protein association networks

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STRINGi
10090.ENSMUSP00000073803

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9ESF1

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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>Domaini240 – 337C2 1PROSITE-ProRule annotationAdd BLAST98
Domaini403 – 513C2 2PROSITE-ProRule annotationAdd BLAST111
Domaini946 – 1051C2 3PROSITE-ProRule annotationAdd BLAST106
Domaini1479 – 1577C2 4PROSITE-ProRule annotationAdd BLAST99

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 coili791 – 820Sequence analysisAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1305 – 1310Poly-Lys6
Compositional biasi1314 – 1320Poly-Glu7
Compositional biasi1970 – 1978Poly-Leu9

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminal first 124 residues can be classified as C2 domain, based on their 3D-structure. They are not sufficient for calcium ion or phospholipid binding (By similarity).By similarity

<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.Curated

Keywords - Domaini

Coiled coil, Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1326 Eukaryota
ENOG410XPT2 LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000006770

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108221

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9ESF1

KEGG Orthology (KO)

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KOi
K19949

Database of Orthologous Groups

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OrthoDBi
20162at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9ESF1

Family and domain databases

Conserved Domains Database

More...
CDDi
cd08373 C2A_Ferlin, 1 hit
cd04011 C2B_Ferlin, 1 hit
cd04018 C2C_Ferlin, 1 hit
cd04017 C2D_Ferlin, 1 hit
cd04037 C2E_Ferlin, 1 hit
cd08374 C2F_Ferlin, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.150, 6 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037726 C2A_Ferlin
IPR037720 C2B_Ferlin
IPR037722 C2C_Ferlin
IPR037723 C2D_Ferlin
IPR037724 C2E_Ferlin
IPR037725 C2F_Ferlin
IPR012968 FerIin_dom
IPR037721 Ferlin
IPR012561 Ferlin_B-domain
IPR032362 Ferlin_C
IPR029996 Otoferlin

The PANTHER Classification System

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PANTHERi
PTHR12546 PTHR12546, 1 hit
PTHR12546:SF32 PTHR12546:SF32, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00168 C2, 6 hits
PF08150 FerB, 1 hit
PF08151 FerI, 1 hit
PF16165 Ferlin_C, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00360 C2DOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239 C2, 6 hits
SM01201 FerB, 1 hit
SM01202 FerI, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50004 C2, 4 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9ESF1-1) [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
MALIVHLKTV SELRGKGDRI AKVTFRGQSF YSRVLENCEG VADFDETFRW
60 70 80 90 100
PVASSIDRNE VLEIQIFNYS KVFSNKLIGT FCMVLQKVVE ENRVEVTDTL
110 120 130 140 150
MDDSNAIIKT SLSMEVRYQA TDGTVGPWDD GDFLGDESLQ EEKDSQETDG
160 170 180 190 200
LLPGSRPSTR ISGEKSFRRA GRSVFSAMKL GKTRSHKEEP QRQDEPAVLE
210 220 230 240 250
MEDLDHLAIQ LGDGLDPDSV SLASVTALTS NVSNKRSKPD IKMEPSAGRP
260 270 280 290 300
MDYQVSITVI EARQLVGLNM DPVVCVEVGD DKKYTSMKES TNCPYYNEYF
310 320 330 340 350
VFDFHVSPDV MFDKIIKISV IHSKNLLRSG TLVGSFKMDV GTVYSQPEHQ
360 370 380 390 400
FHHKWAILSD PDDISAGLKG YVKCDVAVVG KGDNIKTPHK ANETDEDDIE
410 420 430 440 450
GNLLLPEGVP PERQWARFYV KIYRAEGLPR MNTSLMANVK KAFIGENKDL
460 470 480 490 500
VDPYVQVFFA GQKGKTSVQK SSYEPLWNEQ VVFTDLFPPL CKRMKVQIRD
510 520 530 540 550
SDKVNDVAIG THFIDLRKIS NDGDKGFLPT LGPAWVNMYG STRNYTLLDE
560 570 580 590 600
HQDLNEGLGE GVSFRARLML GLAVEILDTS NPELTSSTEV QVEQATPVSE
610 620 630 640 650
SCTGRMEEFF LFGAFLEASM IDRKNGDKPI TFEVTIGNYG NEVDGMSRPL
660 670 680 690 700
RPRPRKEPGD EEEVDLIQNS SDDEGDEAGD LASVSSTPPM RPQITDRNYF
710 720 730 740 750
HLPYLERKPC IYIKSWWPDQ RRRLYNANIM DHIADKLEEG LNDVQEMIKT
760 770 780 790 800
EKSYPERRLR GVLEELSCGC HRFLSLSDKD QGRSSRTRLD RERLKSCMRE
810 820 830 840 850
LESMGQQAKS LRAQVKRHTV RDKLRLCQNF LQKLRFLADE PQHSIPDVFI
860 870 880 890 900
WMMSNNKRIA YARVPSKDLL FSIVEEELGK DCAKVKTLFL KLPGKRGFGS
910 920 930 940 950
AGWTVQAKLE LYLWLGLSKQ RKDFLCGLPC GFEEVKAAQG LGLHSFPPIS
960 970 980 990 1000
LVYTKKQAFQ LRAHMYQARS LFAADSSGLS DPFARVFFIN QSQCTEVLNE
1010 1020 1030 1040 1050
TLCPTWDQML VFDNLELYGE AHELRDDPPI IVIEIYDQDS MGKADFMGRT
1060 1070 1080 1090 1100
FAKPLVKMAD EAYCPPRFPP QLEYYQIYRG SATAGDLLAA FELLQIGPSG
1110 1120 1130 1140 1150
KADLPPINGP VDMDRGPIMP VPVGIRPVLS KYRVEVLFWG LRDLKRVNLA
1160 1170 1180 1190 1200
QVDRPRVDIE CAGKGVQSSL IHNYKKNPNF NTLVKWFEVD LPENELLHPP
1210 1220 1230 1240 1250
LNIRVVDCRA FGRYTLVGSH AVSSLRRFIY RPPDRSAPNW NTTVRLLRGC
1260 1270 1280 1290 1300
HRLRNGGPSS RPTGEVVVSM EPEEPVKKLE TMVKLDATSD AVVKVDVAED
1310 1320 1330 1340 1350
EKERKKKKKK GPSEEPEEEE PDESMLDWWS KYFASIDTMK EQLRQHETSG
1360 1370 1380 1390 1400
TDLEEKEEME SAEGLKGPMK SKEKSRAAKE EKKKKNQSPG PGQGSEAPEK
1410 1420 1430 1440 1450
KKAKIDELKV YPKELESEFD SFEDWLHTFN LLRGKTGDDE DGSTEEERIV
1460 1470 1480 1490 1500
GRFKGSLCVY KVPLPEDVSR EAGYDPTYGM FQGIPSNDPI NVLVRIYVVR
1510 1520 1530 1540 1550
ATDLHPADIN GKADPYIAIK LGKTDIRDKE NYISKQLNPV FGKSFDIEAS
1560 1570 1580 1590 1600
FPMESMLTVA VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYSI
1610 1620 1630 1640 1650
HGYNIWRDPM KPSQILTRLC KEGKVDGPHF GPHGRVRVAN RVFTGPSEIE
1660 1670 1680 1690 1700
DENGQRKPTD EHVALSALRH WEDIPRVGCR LVPEHVETRP LLNPDKPGIE
1710 1720 1730 1740 1750
QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIVWN TDEVVLEDDD
1760 1770 1780 1790 1800
FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL
1810 1820 1830 1840 1850
AAEEKIVMSK KESMFSWDET EYKIPARLTL QIWDADHFSA DDFLGAIELD
1860 1870 1880 1890 1900
LNRFPRGAKT AKQCTMEMAT GEVDVPLVSI FKQKRVKGWW PLLARNENDE
1910 1920 1930 1940 1950
FELTGKVEAE LHLLTAEEAE KNPVGLARNE PDPLEKPNRP DTSFIWFLNP
1960 1970 1980 1990
LKSARYFLWH TYRWLLLKFL LLFLLLLLFA LFLYSLPGYL AKKILGA
Length:1,997
Mass (Da):227,033
Last modified:March 1, 2001 - 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:i7B9CCA918F79D4D1
GO
Isoform 2 (identifier: Q9ESF1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     169-169: R → SKGREETKGGRDGEHK
     1244-1263: Missing.
     1943-1997: SFIWFLNPLK...GYLAKKILGA → AFVWFLNPLK...GYMVKKLLGA

Show »
Length:1,992
Mass (Da):226,123
Checksum:iAE487C8E9652B1F6
GO
Isoform 3 (identifier: Q9ESF1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1244-1263: Missing.

Show »
Length:1,977
Mass (Da):224,819
Checksum:iA8E2C6737567EEF7
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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PYR6E9PYR6_MOUSE
Otoferlin
Otof
1,997Annotation 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>
A0A0R4J1K2A0A0R4J1K2_MOUSE
Otoferlin
Otof
1,992Annotation 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti826L → S in AAT40586 (PubMed:17055430).Curated1
Sequence conflicti955K → E in BAC28229 (PubMed:16141072).Curated1
Sequence conflicti1853R → Q in AAI50703 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001512169R → SKGREETKGGRDGEHK in isoform 2. 3 Publications1
Alternative sequenceiVSP_0015131244 – 1263Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST20
Alternative sequenceiVSP_0015141943 – 1997SFIWF…KILGA → AFVWFLNPLKSIKYLICTRY KWLIIKIVLALLGLLMLALF LYSLPGYMVKKLLGA in isoform 2. 3 PublicationsAdd BLAST55

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF183183 mRNA Translation: AAG12989.1
AF183184 mRNA Translation: AAG12990.1
AY586513 mRNA Translation: AAT40586.1
BC150702 mRNA Translation: AAI50703.1
AK033317 mRNA Translation: BAC28229.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS19157.1 [Q9ESF1-1]
CCDS51452.1 [Q9ESF1-2]

NCBI Reference Sequences

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RefSeqi
NP_001093865.1, NM_001100395.1
NP_001273350.1, NM_001286421.1
NP_114081.2, NM_031875.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Mm.244502

Genome annotation databases

Database of genes from NCBI RefSeq genomes

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GeneIDi
83762

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
mmu:83762

UCSC genome browser

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UCSCi
uc008wvl.1 mouse [Q9ESF1-2]
uc012dud.1 mouse [Q9ESF1-3]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF183183 mRNA Translation: AAG12989.1
AF183184 mRNA Translation: AAG12990.1
AY586513 mRNA Translation: AAT40586.1
BC150702 mRNA Translation: AAI50703.1
AK033317 mRNA Translation: BAC28229.1
CCDSiCCDS19157.1 [Q9ESF1-1]
CCDS51452.1 [Q9ESF1-2]
RefSeqiNP_001093865.1, NM_001100395.1
NP_001273350.1, NM_001286421.1
NP_114081.2, NM_031875.2
UniGeneiMm.244502

3D structure databases

ProteinModelPortaliQ9ESF1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9ESF1, 1 interactor
STRINGi10090.ENSMUSP00000073803

PTM databases

iPTMnetiQ9ESF1
PhosphoSitePlusiQ9ESF1

Proteomic databases

PaxDbiQ9ESF1
PRIDEiQ9ESF1

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi83762
KEGGimmu:83762
UCSCiuc008wvl.1 mouse [Q9ESF1-2]
uc012dud.1 mouse [Q9ESF1-3]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9381
MGIiMGI:1891247 Otof

Phylogenomic databases

eggNOGiKOG1326 Eukaryota
ENOG410XPT2 LUCA
HOGENOMiHOG000006770
HOVERGENiHBG108221
InParanoidiQ9ESF1
KOiK19949
OrthoDBi20162at2759
PhylomeDBiQ9ESF1

Miscellaneous databases

Protein Ontology

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PROi
PR:Q9ESF1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

CleanExiMM_OTOF

Family and domain databases

CDDicd08373 C2A_Ferlin, 1 hit
cd04011 C2B_Ferlin, 1 hit
cd04018 C2C_Ferlin, 1 hit
cd04017 C2D_Ferlin, 1 hit
cd04037 C2E_Ferlin, 1 hit
cd08374 C2F_Ferlin, 1 hit
Gene3Di2.60.40.150, 6 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037726 C2A_Ferlin
IPR037720 C2B_Ferlin
IPR037722 C2C_Ferlin
IPR037723 C2D_Ferlin
IPR037724 C2E_Ferlin
IPR037725 C2F_Ferlin
IPR012968 FerIin_dom
IPR037721 Ferlin
IPR012561 Ferlin_B-domain
IPR032362 Ferlin_C
IPR029996 Otoferlin
PANTHERiPTHR12546 PTHR12546, 1 hit
PTHR12546:SF32 PTHR12546:SF32, 1 hit
PfamiView protein in Pfam
PF00168 C2, 6 hits
PF08150 FerB, 1 hit
PF08151 FerI, 1 hit
PF16165 Ferlin_C, 1 hit
PRINTSiPR00360 C2DOMAIN
SMARTiView protein in SMART
SM00239 C2, 6 hits
SM01201 FerB, 1 hit
SM01202 FerI, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiOTOF_MOUSE
<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: Q9ESF1
Secondary accession number(s): A3KLM3
, B2RWU0, Q8CCE7, Q9ESF2
<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/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: January 16, 2019
This is version 128 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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

<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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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