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Entry version 103 (07 Apr 2021)
Sequence version 2 (15 May 2007)
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Protein

Coiled-coil domain-containing protein 54

Gene

CCDC54

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

Annotation score:2 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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8NEL0

<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%5Fand%5Ftaxonomy%5Fsection">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:
Coiled-coil domain-containing protein 54
Alternative name(s):
Testis development protein NYD-SP17
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CCDC54
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 3

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:30703, CCDC54

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NEL0

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000138483.2

<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
84692

Open Targets

More...
OpenTargetsi
ENSG00000138483

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672170

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NEL0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CCDC54

Domain mapping of disease mutations (DMDM)

More...
DMDMi
147637038

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002866681 – 328Coiled-coil domain-containing protein 54Add BLAST328

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 residuei182PhosphothreonineCombined sources1

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

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8NEL0

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

More...
PaxDbi
Q8NEL0

PeptideAtlas

More...
PeptideAtlasi
Q8NEL0

PRoteomics IDEntifications database

More...
PRIDEi
Q8NEL0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73174

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NEL0

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

More...
PhosphoSitePlusi
Q8NEL0

<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
ENSG00000138483, Expressed in sperm and 62 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NEL0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NEL0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000138483, Tissue enriched (testis)

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
124207, 2 interactors

Protein interaction database and analysis system

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IntActi
Q8NEL0, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000261058

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NEL0, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8NEL0

Database of comparative protein structure models

More...
ModBasei
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

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 coili93 – 151Sequence analysisAdd BLAST59

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502SSGK, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000008948

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_074373_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NEL0

Identification of Orthologs from Complete Genome Data

More...
OMAi
TWIKLTF

Database of Orthologous Groups

More...
OrthoDBi
1013973at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NEL0

TreeFam database of animal gene trees

More...
TreeFami
TF338361

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR037758, Ccdc54

The PANTHER Classification System

More...
PANTHERi
PTHR37880, PTHR37880, 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%5Flength">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>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

Q8NEL0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MYTLHTKRVK AAARQMWTSN LSKVRQSLKN VYHKCKIRHQ DSTGYPTVTS
60 70 80 90 100
DDCNQDDDSY DGKMNLPVVL QDVKTAQVEL FSQMTDIVHM IPKVQEKTDL
110 120 130 140 150
YQKQMEVLET RMNVNEDKQC TTTKDILSMK EDIKALKKKV TELEIQNSCS
160 170 180 190 200
TIHCLEILEG ERGKEITELL YKLIQPATLK NTLASTDMEI SSAEPEKVPS
210 220 230 240 250
YPKSTDHLEK KTISPQMKTL KKRNHQNASR SFEKAKPNIY IYPDFSTWIK
260 270 280 290 300
LTFVHGGKWT FFLSATKLEE FIQWLLSRPT ILPEEPQVIT QRYCPFTGPI
310 320
LSLTTICLSI FNNIYGFICS LKEEVTRL
Length:328
Mass (Da):37,886
Last modified:May 15, 2007 - 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:i238D593D97AF3D11
GO

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_03215138R → Q1 PublicationCorresponds to variant dbSNP:rs709564Ensembl.1

Sequence databases

Select the link destinations:

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

More...
DDBJi
Links Updated
AF367469 mRNA Translation: AAK53405.1
AK058091 mRNA Translation: BAB71661.1
BC030780 mRNA Translation: AAH30780.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2949.1

NCBI Reference Sequences

More...
RefSeqi
NP_115989.1, NM_032600.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261058; ENSP00000261058; ENSG00000138483

Database of genes from NCBI RefSeq genomes

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GeneIDi
84692

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84692

UCSC genome browser

More...
UCSCi
uc003dwi.2, human

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF367469 mRNA Translation: AAK53405.1
AK058091 mRNA Translation: BAB71661.1
BC030780 mRNA Translation: AAH30780.1
CCDSiCCDS2949.1
RefSeqiNP_115989.1, NM_032600.2

3D structure databases

SMRiQ8NEL0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi124207, 2 interactors
IntActiQ8NEL0, 1 interactor
STRINGi9606.ENSP00000261058

PTM databases

iPTMnetiQ8NEL0
PhosphoSitePlusiQ8NEL0

Genetic variation databases

BioMutaiCCDC54
DMDMi147637038

Proteomic databases

MassIVEiQ8NEL0
PaxDbiQ8NEL0
PeptideAtlasiQ8NEL0
PRIDEiQ8NEL0
ProteomicsDBi73174

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
46519, 149 antibodies

The DNASU plasmid repository

More...
DNASUi
84692

Genome annotation databases

EnsembliENST00000261058; ENSP00000261058; ENSG00000138483
GeneIDi84692
KEGGihsa:84692
UCSCiuc003dwi.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
84692
DisGeNETi84692

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CCDC54
HGNCiHGNC:30703, CCDC54
HPAiENSG00000138483, Tissue enriched (testis)
neXtProtiNX_Q8NEL0
OpenTargetsiENSG00000138483
PharmGKBiPA142672170
VEuPathDBiHostDB:ENSG00000138483.2

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502SSGK, Eukaryota
GeneTreeiENSGT00390000008948
HOGENOMiCLU_074373_0_0_1
InParanoidiQ8NEL0
OMAiTWIKLTF
OrthoDBi1013973at2759
PhylomeDBiQ8NEL0
TreeFamiTF338361

Enzyme and pathway databases

PathwayCommonsiQ8NEL0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
84692, 10 hits in 980 CRISPR screens

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

More...
GenomeRNAii
84692
PharosiQ8NEL0, Tbio

Protein Ontology

More...
PROi
PR:Q8NEL0
RNActiQ8NEL0, protein

Gene expression databases

BgeeiENSG00000138483, Expressed in sperm and 62 other tissues
ExpressionAtlasiQ8NEL0, baseline and differential
GenevisibleiQ8NEL0, HS

Family and domain databases

InterProiView protein in InterPro
IPR037758, Ccdc54
PANTHERiPTHR37880, PTHR37880, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCCD54_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: Q8NEL0
Secondary accession number(s): Q96A43
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: April 7, 2021
This is version 103 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

Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
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