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Protein

Otoferlin

Gene

OTOF

Organism
Homo sapiens (Human)
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 (By similarity).By similarity

<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+By similarityNote: Binds Ca2+. The ions are bound to the C2 1 domain.By similarity

<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

  • membrane fusion Source: ProtInc
  • sensory perception of sound Source: ProtInc
  • synaptic vesicle exocytosis Source: UniProtKB

<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>OrganismiHomo sapiens (Human)
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000115155.16

Human Gene Nomenclature Database

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HGNCi
HGNC:8515 OTOF

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603681 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HC10

<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 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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 9 (DFNB9)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:601071
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_032228490P → Q in DFNB9. 2 PublicationsCorresponds to variant dbSNP:rs80356585EnsemblClinVar.1
Natural variantiVAR_032232794R → H in DFNB9. 1 PublicationCorresponds to variant dbSNP:rs80356592EnsemblClinVar.1
Natural variantiVAR_0322361157R → Q in DFNB9. 2 PublicationsCorresponds to variant dbSNP:rs56054534EnsemblClinVar.1
Natural variantiVAR_0322391825P → A in DFNB9. 1 PublicationCorresponds to variant dbSNP:rs28937591EnsemblClinVar.1
Auditory neuropathy, autosomal recessive, 1 (AUNB1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive.
See also OMIM:601071
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046003255Q → H in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515611EnsemblClinVar.1
Natural variantiVAR_046004964A → E in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs201329629EnsemblClinVar.1
Natural variantiVAR_0460051138L → P in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515599EnsemblClinVar.1
Natural variantiVAR_0460081795F → C in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515606EnsemblClinVar.1
Natural variantiVAR_0322411939R → Q in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs80356605EnsemblClinVar.1
Natural variantiVAR_0322421987P → R in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs80356606EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Neuropathy, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
9381

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
OTOF

MalaCards human disease database

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MalaCardsi
OTOF
MIMi601071 phenotype

Open Targets

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OpenTargetsi
ENSG00000115155

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA32841

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
OTOF

Domain mapping of disease mutations (DMDM)

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DMDMi
116242695

<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_00000578811 – 1997OtoferlinAdd BLAST1997

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9HC10

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

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PaxDbi
Q9HC10

PeptideAtlas

More...
PeptideAtlasi
Q9HC10

PRoteomics IDEntifications database

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PRIDEi
Q9HC10

ProteomicsDB human proteome resource

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ProteomicsDBi
81618
81619 [Q9HC10-2]
81620 [Q9HC10-3]
81621 [Q9HC10-4]
81622 [Q9HC10-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9HC10

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

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PhosphoSitePlusi
Q9HC10

<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 and isoform 3 are found in adult brain. Isoform 2 is expressed in the fetus and in adult brain, heart, placenta, skeletal muscle and kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000115155 Expressed in 57 organ(s), highest expression level in nucleus accumbens

CleanEx database of gene expression profiles

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CleanExi
HS_OTOF

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9HC10 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HC10 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA012410

<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 SNAP2; the interaction is direct. Interacts with STX1; the interaction is direct. Interacts with RAB8B (By similarity).By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114782, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000272371

<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

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ProteinModelPortali
Q9HC10

Database of comparative protein structure models

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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>Domaini241 – 338C2 1PROSITE-ProRule annotationAdd BLAST98
Domaini404 – 514C2 2PROSITE-ProRule annotationAdd BLAST111
Domaini947 – 1052C2 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 coili792 – 821Sequence 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 biasi1303 – 1310Poly-Lys8
Compositional biasi1314 – 1320Poly-Glu7
Compositional biasi1965 – 1983Poly-LeuAdd BLAST19

<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

More...
eggNOGi
KOG1326 Eukaryota
ENOG410XPT2 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155086

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108221

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9HC10

KEGG Orthology (KO)

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KOi
K19949

Identification of Orthologs from Complete Genome Data

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OMAi
CYRFLSL

Database of Orthologous Groups

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OrthoDBi
EOG091G0IG2

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9HC10

TreeFam database of animal gene trees

More...
TreeFami
TF316871

Family and domain databases

Conserved Domains Database

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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

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 (5+)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 5 <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 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HC10-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MALLIHLKTV SELRGRGDRI AKVTFRGQSF YSRVLENCED VADFDETFRW
60 70 80 90 100
PVASSIDRNE MLEIQVFNYS KVFSNKLIGT FRMVLQKVVE ESHVEVTDTL
110 120 130 140 150
IDDNNAIIKT SLCVEVRYQA TDGTVGSWDD GDFLGDESLQ EEEKDSQETD
160 170 180 190 200
GLLPGSRPSS RPPGEKSFRR AGRSVFSAMK LGKNRSHKEE PQRPDEPAVL
210 220 230 240 250
EMEDLDHLAI RLGDGLDPDS VSLASVTALT TNVSNKRSKP DIKMEPSAGR
260 270 280 290 300
PMDYQVSITV IEARQLVGLN MDPVVCVEVG DDKKYTSMKE STNCPYYNEY
310 320 330 340 350
FVFDFHVSPD VMFDKIIKIS VIHSKNLLRS GTLVGSFKMD VGTVYSQPEH
360 370 380 390 400
QFHHKWAILS DPDDISSGLK GYVKCDVAVV GKGDNIKTPH KANETDEDDI
410 420 430 440 450
EGNLLLPEGV PPERQWARFY VKIYRAEGLP RMNTSLMANV KKAFIGENKD
460 470 480 490 500
LVDPYVQVFF AGQKGKTSVQ KSSYEPLWNE QVVFTDLFPP LCKRMKVQIR
510 520 530 540 550
DSDKVNDVAI GTHFIDLRKI SNDGDKGFLP TLGPAWVNMY GSTRNYTLLD
560 570 580 590 600
EHQDLNEGLG EGVSFRARLL LGLAVEIVDT SNPELTSSTE VQVEQATPIS
610 620 630 640 650
ESCAGKMEEF FLFGAFLEAS MIDRRNGDKP ITFEVTIGNY GNEVDGLSRP
660 670 680 690 700
QRPRPRKEPG DEEEVDLIQN ASDDEAGDAG DLASVSSTPP MRPQVTDRNY
710 720 730 740 750
FHLPYLERKP CIYIKSWWPD QRRRLYNANI MDHIADKLEE GLNDIQEMIK
760 770 780 790 800
TEKSYPERRL RGVLEELSCG CCRFLSLADK DQGHSSRTRL DRERLKSCMR
810 820 830 840 850
ELENMGQQAR MLRAQVKRHT VRDKLRLCQN FLQKLRFLAD EPQHSIPDIF
860 870 880 890 900
IWMMSNNKRV AYARVPSKDL LFSIVEEETG KDCAKVKTLF LKLPGKRGFG
910 920 930 940 950
SAGWTVQAKV ELYLWLGLSK QRKEFLCGLP CGFQEVKAAQ GLGLHAFPPV
960 970 980 990 1000
SLVYTKKQAF QLRAHMYQAR SLFAADSSGL SDPFARVFFI NQSQCTEVLN
1010 1020 1030 1040 1050
ETLCPTWDQM LVFDNLELYG EAHELRDDPP IIVIEIYDQD SMGKADFMGR
1060 1070 1080 1090 1100
TFAKPLVKMA DEAYCPPRFP PQLEYYQIYR GNATAGDLLA AFELLQIGPA
1110 1120 1130 1140 1150
GKADLPPING PVDVDRGPIM PVPMGIRPVL SKYRVEVLFW GLRDLKRVNL
1160 1170 1180 1190 1200
AQVDRPRVDI ECAGKGVQSS LIHNYKKNPN FNTLVKWFEV DLPENELLHP
1210 1220 1230 1240 1250
PLNIRVVDCR AFGRYTLVGS HAVSSLRRFI YRPPDRSAPS WNTTVRLLRR
1260 1270 1280 1290 1300
CRVLCNGGSS SHSTGEVVVT MEPEVPIKKL ETMVKLDATS EAVVKVDVAE
1310 1320 1330 1340 1350
EEKEKKKKKK GTAEEPEEEE PDESMLDWWS KYFASIDTMK EQLRQQEPSG
1360 1370 1380 1390 1400
IDLEEKEEVD NTEGLKGSMK GKEKARAAKE EKKKKTQSSG SGQGSEAPEK
1410 1420 1430 1440 1450
KKPKIDELKV YPKELESEFD NFEDWLHTFN LLRGKTGDDE DGSTEEERIV
1460 1470 1480 1490 1500
GRFKGSLCVY KVPLPEDVSR EAGYDSTYGM FQGIPSNDPI NVLVRVYVVR
1510 1520 1530 1540 1550
ATDLHPADIN GKADPYIAIR LGKTDIRDKE NYISKQLNPV FGKSFDIEAS
1560 1570 1580 1590 1600
FPMESMLTVA VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYST
1610 1620 1630 1640 1650
HGYNIWRDPM KPSQILTRLC KDGKVDGPHF GPPGRVKVAN RVFTGPSEIE
1660 1670 1680 1690 1700
DENGQRKPTD EHVALLALRH WEDIPRAGCR LVPEHVETRP LLNPDKPGIE
1710 1720 1730 1740 1750
QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIIWN TDEVVLEDDD
1760 1770 1780 1790 1800
FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL
1810 1820 1830 1840 1850
AAEEKIVISK 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 TYRWLLLKLL LLLLLLLLLA LFLYSVPGYL VKKILGA
Length:1,997
Mass (Da):226,753
Last modified:October 17, 2006 - v3
<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:i24DE196371FB7385
GO
Isoform 2 (identifier: Q9HC10-2) [UniParc]FASTAAdd to basket
Also known as: Short-1

The sequence of this isoform differs from the canonical sequence as follows:
     1-747: Missing.
     1245-1264: Missing.
     1943-1997: SFIWFLNPLK...GYLVKKILGA → AFVWFLNPLK...GYMVKKLLGA

Show »
Length:1,230
Mass (Da):140,295
Checksum:i4DE2F70848ED18E3
GO
Isoform 3 (identifier: Q9HC10-3) [UniParc]FASTAAdd to basket
Also known as: Short-2

The sequence of this isoform differs from the canonical sequence as follows:
     1-690: Missing.
     691-738: MRPQVTDRNY...NIMDHIADKL → MMTDTQDGPS...PSITHTPDSQ

Show »
Length:1,307
Mass (Da):148,927
Checksum:iCDB151AA2CB43174
GO
Isoform 4 (identifier: Q9HC10-4) [UniParc]FASTAAdd to basket
Also known as: Short-3

The sequence of this isoform differs from the canonical sequence as follows:
     1-747: Missing.
     1245-1264: Missing.

Show »
Length:1,230
Mass (Da):140,513
Checksum:iDE8475F1756298EE
GO
Isoform 5 (identifier: Q9HC10-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1943-1997: SFIWFLNPLK...GYLVKKILGA → AFVWFLNPLK...GYMVKKLLGA

Show »
Length:1,997
Mass (Da):226,535
Checksum:iB7B89B9A4C74F388
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
A0A2U3TZT7A0A2U3TZT7_HUMAN
Otoferlin
OTOF
1,250Annotation 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>
H7BZJ5H7BZJ5_HUMAN
Otoferlin
OTOF
141Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAG58982 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti1088L → P in AAD26117 (PubMed:10192385).Curated1
Sequence conflicti1088L → P in AAG12992 (PubMed:10903124).Curated1
Sequence conflicti1088L → P in AAG17468 (PubMed:10903124).Curated1
Sequence conflicti1787G → S in BAG58982 (PubMed:14702039).Curated1
Isoform 3 (identifier: Q9HC10-3)
Sequence conflicti21P → L in AAG12992 (PubMed:10903124).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03222653A → V1 PublicationCorresponds to variant dbSNP:rs1879761EnsemblClinVar.1
Natural variantiVAR_03222782R → C2 PublicationsCorresponds to variant dbSNP:rs13031859EnsemblClinVar.1
Natural variantiVAR_046003255Q → H in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515611EnsemblClinVar.1
Natural variantiVAR_032228490P → Q in DFNB9. 2 PublicationsCorresponds to variant dbSNP:rs80356585EnsemblClinVar.1
Natural variantiVAR_032229515I → T in DFNB9 and AUNB1; temperature sensitive AUNB1 phenotype with severe hearing loss during febrile illness. 2 PublicationsCorresponds to variant dbSNP:rs80356586EnsemblClinVar.1
Natural variantiVAR_032230575V → M1 PublicationCorresponds to variant dbSNP:rs55676840EnsemblClinVar.1
Natural variantiVAR_032231773R → S2 Publications1
Natural variantiVAR_032232794R → H in DFNB9. 1 PublicationCorresponds to variant dbSNP:rs80356592EnsemblClinVar.1
Natural variantiVAR_028028818R → W. Corresponds to variant dbSNP:rs2272070EnsemblClinVar.1
Natural variantiVAR_032233822R → W3 PublicationsCorresponds to variant dbSNP:rs80356570EnsemblClinVar.1
Natural variantiVAR_046004964A → E in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs201329629EnsemblClinVar.1
Natural variantiVAR_0322341011L → P in AUNB1 and DFNB9. 2 PublicationsCorresponds to variant dbSNP:rs80356596EnsemblClinVar.1
Natural variantiVAR_0322351083A → P1 PublicationCorresponds to variant dbSNP:rs80356574EnsemblClinVar.1
Natural variantiVAR_0460051138L → P in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515599EnsemblClinVar.1
Natural variantiVAR_0322361157R → Q in DFNB9. 2 PublicationsCorresponds to variant dbSNP:rs56054534EnsemblClinVar.1
Natural variantiVAR_0460061236R → Q1 Publication1
Natural variantiVAR_0322371322D → E1 PublicationCorresponds to variant dbSNP:rs80356576EnsemblClinVar.1
Natural variantiVAR_0358951323E → K in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs546115388Ensembl.1
Natural variantiVAR_0358961547I → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0322381625V → M1 PublicationCorresponds to variant dbSNP:rs80356579EnsemblClinVar.1
Natural variantiVAR_0280291646P → S1 PublicationCorresponds to variant dbSNP:rs17005371EnsemblClinVar.1
Natural variantiVAR_0280301680R → H. Corresponds to variant dbSNP:rs11893228EnsemblClinVar.1
Natural variantiVAR_0460071688T → K1 Publication1
Natural variantiVAR_0460081795F → C in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515606EnsemblClinVar.1
Natural variantiVAR_0322391825P → A in DFNB9. 1 PublicationCorresponds to variant dbSNP:rs28937591EnsemblClinVar.1
Natural variantiVAR_0490571886V → A. Corresponds to variant dbSNP:rs45442103Ensembl.1
Natural variantiVAR_0322401888G → D1 PublicationCorresponds to variant dbSNP:rs80356583EnsemblClinVar.1
Natural variantiVAR_0322411939R → Q in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs80356605EnsemblClinVar.1
Natural variantiVAR_0322421987P → R in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs80356606EnsemblClinVar.1

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_0015071 – 747Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST747
Alternative sequenceiVSP_0015091 – 690Missing in isoform 3. 1 PublicationAdd BLAST690
Alternative sequenceiVSP_001510691 – 738MRPQV…IADKL → MMTDTQDGPSESSQIMRSLT PLINREEAFGEAGEAGLWPS ITHTPDSQ in isoform 3. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_0015081245 – 1264Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST20
Alternative sequenceiVSP_0015111943 – 1997SFIWF…KILGA → AFVWFLNPLKSIKYLICTRY KWLIIKIVLALLGLLMLGLF LYSLPGYMVKKLLGA in isoform 2 and isoform 5. 2 PublicationsAdd BLAST55

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
AF107403 mRNA Translation: AAD26117.1
AF183185 mRNA Translation: AAG12991.1
AF183186 mRNA Translation: AAG12992.1
AF183187 mRNA Translation: AAG17468.1
AC093378 Genomic DNA Translation: AAY15083.1
AC108070 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00684.1
CH471053 Genomic DNA Translation: EAX00686.1
AK296272 mRNA Translation: BAG58982.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1724.1 [Q9HC10-2]
CCDS1725.1 [Q9HC10-1]
CCDS1726.1 [Q9HC10-4]
CCDS46241.1 [Q9HC10-3]
CCDS74497.1 [Q9HC10-5]

NCBI Reference Sequences

More...
RefSeqi
NP_001274418.1, NM_001287489.1 [Q9HC10-5]
NP_004793.2, NM_004802.3 [Q9HC10-4]
NP_919224.1, NM_194248.2 [Q9HC10-1]
NP_919303.1, NM_194322.2 [Q9HC10-3]
NP_919304.1, NM_194323.2 [Q9HC10-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.91608

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000272371; ENSP00000272371; ENSG00000115155 [Q9HC10-1]
ENST00000338581; ENSP00000345137; ENSG00000115155 [Q9HC10-4]
ENST00000339598; ENSP00000344521; ENSG00000115155 [Q9HC10-2]
ENST00000403946; ENSP00000385255; ENSG00000115155 [Q9HC10-5]
ENST00000646318; ENSP00000494578; ENSG00000115155 [Q9HC10-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9381

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9381

UCSC genome browser

More...
UCSCi
uc002rhh.3 human [Q9HC10-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF107403 mRNA Translation: AAD26117.1
AF183185 mRNA Translation: AAG12991.1
AF183186 mRNA Translation: AAG12992.1
AF183187 mRNA Translation: AAG17468.1
AC093378 Genomic DNA Translation: AAY15083.1
AC108070 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00684.1
CH471053 Genomic DNA Translation: EAX00686.1
AK296272 mRNA Translation: BAG58982.1 Different initiation.
CCDSiCCDS1724.1 [Q9HC10-2]
CCDS1725.1 [Q9HC10-1]
CCDS1726.1 [Q9HC10-4]
CCDS46241.1 [Q9HC10-3]
CCDS74497.1 [Q9HC10-5]
RefSeqiNP_001274418.1, NM_001287489.1 [Q9HC10-5]
NP_004793.2, NM_004802.3 [Q9HC10-4]
NP_919224.1, NM_194248.2 [Q9HC10-1]
NP_919303.1, NM_194322.2 [Q9HC10-3]
NP_919304.1, NM_194323.2 [Q9HC10-2]
UniGeneiHs.91608

3D structure databases

ProteinModelPortaliQ9HC10
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114782, 2 interactors
STRINGi9606.ENSP00000272371

PTM databases

iPTMnetiQ9HC10
PhosphoSitePlusiQ9HC10

Polymorphism and mutation databases

BioMutaiOTOF
DMDMi116242695

Proteomic databases

MaxQBiQ9HC10
PaxDbiQ9HC10
PeptideAtlasiQ9HC10
PRIDEiQ9HC10
ProteomicsDBi81618
81619 [Q9HC10-2]
81620 [Q9HC10-3]
81621 [Q9HC10-4]
81622 [Q9HC10-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272371; ENSP00000272371; ENSG00000115155 [Q9HC10-1]
ENST00000338581; ENSP00000345137; ENSG00000115155 [Q9HC10-4]
ENST00000339598; ENSP00000344521; ENSG00000115155 [Q9HC10-2]
ENST00000403946; ENSP00000385255; ENSG00000115155 [Q9HC10-5]
ENST00000646318; ENSP00000494578; ENSG00000115155 [Q9HC10-3]
GeneIDi9381
KEGGihsa:9381
UCSCiuc002rhh.3 human [Q9HC10-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9381
DisGeNETi9381
EuPathDBiHostDB:ENSG00000115155.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OTOF
GeneReviewsiOTOF
HGNCiHGNC:8515 OTOF
HPAiHPA012410
MalaCardsiOTOF
MIMi601071 phenotype
603681 gene
neXtProtiNX_Q9HC10
OpenTargetsiENSG00000115155
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA32841

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1326 Eukaryota
ENOG410XPT2 LUCA
GeneTreeiENSGT00940000155086
HOVERGENiHBG108221
InParanoidiQ9HC10
KOiK19949
OMAiCYRFLSL
OrthoDBiEOG091G0IG2
PhylomeDBiQ9HC10
TreeFamiTF316871

Miscellaneous databases

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

More...
ChiTaRSi
OTOF human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
OTOF

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9381

Protein Ontology

More...
PROi
PR:Q9HC10

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115155 Expressed in 57 organ(s), highest expression level in nucleus accumbens
CleanExiHS_OTOF
ExpressionAtlasiQ9HC10 baseline and differential
GenevisibleiQ9HC10 HS

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
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

More...
ProtoNeti
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 nameiOTOF_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: Q9HC10
Secondary accession number(s): B4DJX0
, B5MCC1, B9A0H6, Q53R90, Q9HC08, Q9HC09, Q9Y650
<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: October 17, 2006
Last modified: December 5, 2018
This is version 167 of the entry and version 3 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
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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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