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Entry version 123 (18 Sep 2019)
Sequence version 2 (16 Jun 2009)
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Protein

Differentially expressed in FDCP 8 homolog

Gene

DEF8

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

Annotation score:4 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

Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts. Involved in bone resorption.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri199 – 250Phorbol-ester/DAG-type 1PROSITE-ProRule annotationAdd BLAST52
Zinc fingeri429 – 489Phorbol-ester/DAG-type 2PROSITE-ProRule annotationAdd BLAST61

<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

<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

LigandMetal-binding, Zinc

<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:
Differentially expressed in FDCP 8 homolog
Short name:
DEF-8
<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:DEF8
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25969 DEF8

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZN54

<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

DisGeNET

More...
DisGeNETi
54849

Open Targets

More...
OpenTargetsi
ENSG00000140995

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162383526

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DEF8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
239938619

<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_00003219131 – 512Differentially expressed in FDCP 8 homologAdd BLAST512

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei501PhosphoserineBy similarity1
Isoform 2 (identifier: Q6ZN54-2)
Modified residuei1N-acetylmethionineCombined sources1
Isoform 3 (identifier: Q6ZN54-3)
Modified residuei1N-acetylmethionineCombined sources1
Isoform 5 (identifier: Q6ZN54-5)
Modified residuei1N-acetylmethionineCombined sources1
Isoform 6 (identifier: Q6ZN54-6)
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6ZN54

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6ZN54

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6ZN54

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

More...
PaxDbi
Q6ZN54

PeptideAtlas

More...
PeptideAtlasi
Q6ZN54

PRoteomics IDEntifications database

More...
PRIDEi
Q6ZN54

ProteomicsDB human proteome resource

More...
ProteomicsDBi
42925
67977 [Q6ZN54-1]
67978 [Q6ZN54-2]
67979 [Q6ZN54-3]
67980 [Q6ZN54-4]
67981 [Q6ZN54-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ZN54

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

More...
PhosphoSitePlusi
Q6ZN54

<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
ENSG00000140995 Expressed in 208 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6ZN54 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6ZN54 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041745
HPA049434

<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 (via C-terminus) with PLEKHM1; this interaction is weak but increased in a RAB7A-dependent manner.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120199, 33 interactors

Protein interaction database and analysis system

More...
IntActi
Q6ZN54, 35 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000268676

<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

<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 DEF8 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri199 – 250Phorbol-ester/DAG-type 1PROSITE-ProRule annotationAdd BLAST52
Zinc fingeri429 – 489Phorbol-ester/DAG-type 2PROSITE-ProRule annotationAdd BLAST61

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1829 Eukaryota
ENOG410XP8S LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159182

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6ZN54

Identification of Orthologs from Complete Genome Data

More...
OMAi
IEPRLCD

Database of Orthologous Groups

More...
OrthoDBi
177737at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6ZN54

TreeFam database of animal gene trees

More...
TreeFami
TF317067

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002219 PE/DAG-bd
IPR025258 Zf-RING_9

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00130 C1_1, 1 hit
PF13901 zf-RING_9, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00109 C1, 2 hits
SM01175 DUF4206, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00479 ZF_DAG_PE_1, 1 hit
PS50081 ZF_DAG_PE_2, 1 hit

<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>Sequences (6+)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 6 <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

This entry has 6 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZN54-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAILSLRAPG PWQAMQVWAD RTLLTPHTGV TSQVLGVAAA VMTPLPGGHA
60 70 80 90 100
AGRTREARWD AMEYDEKLAR FRQAHLNPFN KQSGPRQHEQ GPGEEVPDVT
110 120 130 140 150
PEEALPELPP GEPEFRCPER VMDLGLSEDH FSRPVGLFLA SDVQQLRQAI
160 170 180 190 200
EECKQVILEL PEQSEKQKDA VVRLIHLRLK LQELKDPNED EPNIRVLLEH
210 220 230 240 250
RFYKEKSKSV KQTCDKCNTI IWGLIQTWYT CTGCYYRCHS KCLNLISKPC
260 270 280 290 300
VSSKVSHQAE YELNICPETG LDSQDYRCAE CRAPISLRGV PSEARQCDYT
310 320 330 340 350
GQYYCSHCHW NDLAVIPARV VHNWDFEPRK VSRCSMRYLA LMVSRPVLRL
360 370 380 390 400
REINPLLFSY VEELVEIRKL RQDILLMKPY FITCREAMEA RLLLQLQDRQ
410 420 430 440 450
HFVENDEMYS VQDLLDVHAG RLGCSLTEIH TLFAKHIKLD CERCQAKGFV
460 470 480 490 500
CELCREGDVL FPFDSHTSVC ADCSAVFHRD CYYDNSTTCP KCARLSLRKQ
510
SLFQEPGPDV EA
Length:512
Mass (Da):58,710
Last modified:June 16, 2009 - v2
<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:i2909333CBD68F5C7
GO
Isoform 2 (identifier: Q6ZN54-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.
     234-258: CYYRCHSKCLNLISKPCVSSKVSHQ → GPRPRRGVRNERDQSSCLRWAHIQM
     259-512: Missing.

Show »
Length:197
Mass (Da):22,976
Checksum:iE2CAF588BBFD4DD1
GO
Isoform 3 (identifier: Q6ZN54-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.
     136-145: Missing.

Show »
Length:441
Mass (Da):51,222
Checksum:i21559BD6630D5EB3
GO
Isoform 4 (identifier: Q6ZN54-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-121: Missing.

Show »
Length:391
Mass (Da):45,388
Checksum:iFC519A19A9343287
GO
Isoform 5 (identifier: Q6ZN54-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.

Show »
Length:451
Mass (Da):52,281
Checksum:i74283C0DFBB04B5E
GO
Isoform 6 (identifier: Q6ZN54-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.
     395-411: Missing.

Note: No experimental confirmation available. Gene prediction based on cDNA data.Combined sources
Show »
Length:434
Mass (Da):50,161
Checksum:iA1356F61B3642E90
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BMT5H3BMT5_HUMAN
Differentially-expressed in FDCP 8 ...
DEF8
177Annotation 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>
H3BSH6H3BSH6_HUMAN
Differentially-expressed in FDCP 8 ...
DEF8
176Annotation 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>
H3BQX9H3BQX9_HUMAN
Differentially-expressed in FDCP 8 ...
DEF8
125Annotation 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>
H3BRA7H3BRA7_HUMAN
Differentially-expressed in FDCP 8 ...
DEF8
106Annotation 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>
H3BMP4H3BMP4_HUMAN
Differentially-expressed in FDCP 8 ...
DEF8
134Annotation 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>
H3BNN0H3BNN0_HUMAN
Differentially-expressed in FDCP 8 ...
DEF8
66Annotation 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>
H3BT87H3BT87_HUMAN
Differentially-expressed in FDCP 8 ...
DEF8
150Annotation 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>
H3BTS7H3BTS7_HUMAN
Differentially-expressed in FDCP 8 ...
DEF8
186Annotation 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>
H3BQ81H3BQ81_HUMAN
Differentially-expressed in FDCP 8 ...
DEF8
107Annotation 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>
H3BQH5H3BQH5_HUMAN
Differentially-expressed in FDCP 8 ...
DEF8
127Annotation 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>
There is more potential isoformShow all

<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 BAC04802 differs from that shown. Unlikely isoform. Aberrant splice sites.Curated
The sequence BAG64541 differs from that shown. Unlikely isoform. Aberrant splice sites.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 conflicti283A → V in BAD18521 (PubMed:14702039).Curated1
Sequence conflicti293E → A in BAG52977 (PubMed:14702039).Curated1

Natural variant

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_06148590Q → E. Corresponds to variant dbSNP:rs7194844Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0375231 – 121Missing in isoform 4. 1 PublicationAdd BLAST121
Alternative sequenceiVSP_0318211 – 61Missing in isoform 2, isoform 3, isoform 5 and isoform 6. 2 PublicationsAdd BLAST61
Alternative sequenceiVSP_031822136 – 145Missing in isoform 3. 1 Publication10
Alternative sequenceiVSP_031823234 – 258CYYRC…KVSHQ → GPRPRRGVRNERDQSSCLRW AHIQM in isoform 2. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_031824259 – 512Missing in isoform 2. 2 PublicationsAdd BLAST254
Alternative sequenceiVSP_047179395 – 411Missing in isoform 6. CuratedAdd BLAST17

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
AK000193 mRNA Translation: BAA91000.1
AK095051 mRNA Translation: BAG52977.1
AK096485 mRNA Translation: BAC04802.1 Sequence problems.
AK131370 mRNA Translation: BAD18521.1
AK295880 mRNA Translation: BAH12212.1
AK296410 mRNA Translation: BAG59074.1
AK303510 mRNA Translation: BAG64541.1 Sequence problems.
AC092143 Genomic DNA No translation available.
CH471184 Genomic DNA Translation: EAW66667.1
BC015482 mRNA Translation: AAH15482.1
BC105592 mRNA Translation: AAI05593.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10989.1 [Q6ZN54-1]
CCDS45555.1 [Q6ZN54-2]
CCDS58493.1 [Q6ZN54-5]
CCDS58494.1 [Q6ZN54-6]
CCDS58495.1 [Q6ZN54-3]
CCDS58496.1 [Q6ZN54-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001229745.1, NM_001242816.1 [Q6ZN54-3]
NP_001229746.1, NM_001242817.1 [Q6ZN54-4]
NP_001229747.1, NM_001242818.1 [Q6ZN54-5]
NP_001229748.1, NM_001242819.1 [Q6ZN54-6]
NP_001229749.1, NM_001242820.1 [Q6ZN54-5]
NP_001229750.1, NM_001242821.1 [Q6ZN54-2]
NP_001229751.1, NM_001242822.1 [Q6ZN54-2]
NP_060172.1, NM_017702.3 [Q6ZN54-2]
NP_997397.1, NM_207514.2 [Q6ZN54-1]
XP_005256375.2, XM_005256318.2 [Q6ZN54-6]
XP_016878847.1, XM_017023358.1 [Q6ZN54-5]
XP_016878849.1, XM_017023360.1 [Q6ZN54-6]
XP_016878852.1, XM_017023363.1 [Q6ZN54-1]
XP_016878856.1, XM_017023367.1 [Q6ZN54-5]
XP_016878857.1, XM_017023368.1 [Q6ZN54-5]
XP_016878858.1, XM_017023369.1 [Q6ZN54-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000268676; ENSP00000268676; ENSG00000140995 [Q6ZN54-1]
ENST00000418391; ENSP00000412784; ENSG00000140995 [Q6ZN54-2]
ENST00000563594; ENSP00000458019; ENSG00000140995 [Q6ZN54-5]
ENST00000563795; ENSP00000457627; ENSG00000140995 [Q6ZN54-6]
ENST00000567874; ENSP00000456095; ENSG00000140995 [Q6ZN54-4]
ENST00000569453; ENSP00000456501; ENSG00000140995 [Q6ZN54-5]
ENST00000570182; ENSP00000456799; ENSG00000140995 [Q6ZN54-3]
ENST00000610455; ENSP00000480073; ENSG00000140995 [Q6ZN54-2]
ENST00000617948; ENSP00000482524; ENSG00000140995 [Q6ZN54-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54849

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54849

UCSC genome browser

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UCSCi
uc002fpl.4 human [Q6ZN54-1]

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
AK000193 mRNA Translation: BAA91000.1
AK095051 mRNA Translation: BAG52977.1
AK096485 mRNA Translation: BAC04802.1 Sequence problems.
AK131370 mRNA Translation: BAD18521.1
AK295880 mRNA Translation: BAH12212.1
AK296410 mRNA Translation: BAG59074.1
AK303510 mRNA Translation: BAG64541.1 Sequence problems.
AC092143 Genomic DNA No translation available.
CH471184 Genomic DNA Translation: EAW66667.1
BC015482 mRNA Translation: AAH15482.1
BC105592 mRNA Translation: AAI05593.1
CCDSiCCDS10989.1 [Q6ZN54-1]
CCDS45555.1 [Q6ZN54-2]
CCDS58493.1 [Q6ZN54-5]
CCDS58494.1 [Q6ZN54-6]
CCDS58495.1 [Q6ZN54-3]
CCDS58496.1 [Q6ZN54-4]
RefSeqiNP_001229745.1, NM_001242816.1 [Q6ZN54-3]
NP_001229746.1, NM_001242817.1 [Q6ZN54-4]
NP_001229747.1, NM_001242818.1 [Q6ZN54-5]
NP_001229748.1, NM_001242819.1 [Q6ZN54-6]
NP_001229749.1, NM_001242820.1 [Q6ZN54-5]
NP_001229750.1, NM_001242821.1 [Q6ZN54-2]
NP_001229751.1, NM_001242822.1 [Q6ZN54-2]
NP_060172.1, NM_017702.3 [Q6ZN54-2]
NP_997397.1, NM_207514.2 [Q6ZN54-1]
XP_005256375.2, XM_005256318.2 [Q6ZN54-6]
XP_016878847.1, XM_017023358.1 [Q6ZN54-5]
XP_016878849.1, XM_017023360.1 [Q6ZN54-6]
XP_016878852.1, XM_017023363.1 [Q6ZN54-1]
XP_016878856.1, XM_017023367.1 [Q6ZN54-5]
XP_016878857.1, XM_017023368.1 [Q6ZN54-5]
XP_016878858.1, XM_017023369.1 [Q6ZN54-6]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi120199, 33 interactors
IntActiQ6ZN54, 35 interactors
STRINGi9606.ENSP00000268676

PTM databases

iPTMnetiQ6ZN54
PhosphoSitePlusiQ6ZN54

Polymorphism and mutation databases

BioMutaiDEF8
DMDMi239938619

Proteomic databases

jPOSTiQ6ZN54
MassIVEiQ6ZN54
MaxQBiQ6ZN54
PaxDbiQ6ZN54
PeptideAtlasiQ6ZN54
PRIDEiQ6ZN54
ProteomicsDBi42925
67977 [Q6ZN54-1]
67978 [Q6ZN54-2]
67979 [Q6ZN54-3]
67980 [Q6ZN54-4]
67981 [Q6ZN54-5]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
54849
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268676; ENSP00000268676; ENSG00000140995 [Q6ZN54-1]
ENST00000418391; ENSP00000412784; ENSG00000140995 [Q6ZN54-2]
ENST00000563594; ENSP00000458019; ENSG00000140995 [Q6ZN54-5]
ENST00000563795; ENSP00000457627; ENSG00000140995 [Q6ZN54-6]
ENST00000567874; ENSP00000456095; ENSG00000140995 [Q6ZN54-4]
ENST00000569453; ENSP00000456501; ENSG00000140995 [Q6ZN54-5]
ENST00000570182; ENSP00000456799; ENSG00000140995 [Q6ZN54-3]
ENST00000610455; ENSP00000480073; ENSG00000140995 [Q6ZN54-2]
ENST00000617948; ENSP00000482524; ENSG00000140995 [Q6ZN54-5]
GeneIDi54849
KEGGihsa:54849
UCSCiuc002fpl.4 human [Q6ZN54-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54849
DisGeNETi54849

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DEF8
HGNCiHGNC:25969 DEF8
HPAiHPA041745
HPA049434
neXtProtiNX_Q6ZN54
OpenTargetsiENSG00000140995
PharmGKBiPA162383526

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1829 Eukaryota
ENOG410XP8S LUCA
GeneTreeiENSGT00940000159182
InParanoidiQ6ZN54
OMAiIEPRLCD
OrthoDBi177737at2759
PhylomeDBiQ6ZN54
TreeFamiTF317067

Miscellaneous databases

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

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ChiTaRSi
DEF8 human

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

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GenomeRNAii
54849

Pharos

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Pharosi
Q6ZN54

Protein Ontology

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PROi
PR:Q6ZN54

Gene expression databases

BgeeiENSG00000140995 Expressed in 208 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ6ZN54 baseline and differential
GenevisibleiQ6ZN54 HS

Family and domain databases

InterProiView protein in InterPro
IPR002219 PE/DAG-bd
IPR025258 Zf-RING_9
PfamiView protein in Pfam
PF00130 C1_1, 1 hit
PF13901 zf-RING_9, 1 hit
SMARTiView protein in SMART
SM00109 C1, 2 hits
SM01175 DUF4206, 1 hit
PROSITEiView protein in PROSITE
PS00479 ZF_DAG_PE_1, 1 hit
PS50081 ZF_DAG_PE_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiDEFI8_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: Q6ZN54
Secondary accession number(s): B3KT65
, B4DK62, B4E0S9, B7Z3H6, H3BUG7, Q8N8N3, Q9NXL0
<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: February 26, 2008
Last sequence update: June 16, 2009
Last modified: September 18, 2019
This is version 123 of the entry and version 2 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 16
    Human chromosome 16: 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
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