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UniProtKB - Q2TAC2 (CCD57_HUMAN)

Entry version 122 (02 Dec 2020)
Sequence version 3 (10 Apr 2019)
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Protein

Coiled-coil domain-containing protein 57

Gene

CCDC57

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q2TAC2

<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 57
<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:CCDC57
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 17

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000176155.18

Human Gene Nomenclature Database

More...HGNCi		HGNC:27564, CCDC57

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q2TAC2

<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		284001

Open Targets

More...OpenTargetsi		ENSG00000176155

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672173

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q2TAC2, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CCDC57

Domain mapping of disease mutations (DMDM)

More...DMDMi		317373337

<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_00002888711 – 915Coiled-coil domain-containing protein 57Add BLAST915

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q2TAC2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q2TAC2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q2TAC2

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

More...PaxDbi		Q2TAC2

PeptideAtlas

More...PeptideAtlasi		Q2TAC2

PRoteomics IDEntifications database

More...PRIDEi		Q2TAC2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61457 [Q2TAC2-1]
61458 [Q2TAC2-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q2TAC2-1 [Q2TAC2-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q2TAC2

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

More...PhosphoSitePlusi		Q2TAC2

<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		ENSG00000176155, Expressed in left lobe of thyroid gland and 181 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q2TAC2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q2TAC2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000176155, Low tissue specificity

<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%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q2TAC2
With#Exp.IntAct
AQP1 [P29972]3EBI-2808286,EBI-745213
ARL4A [P40617]3EBI-2808286,EBI-2875746
CBX8 [Q9HC52]3EBI-2808286,EBI-712912
CCDC120 - isoform 4 [Q96HB5-4]3EBI-2808286,EBI-10185348
CDC20B [Q86Y33]3EBI-2808286,EBI-10260504
CEP57L1 - isoform 2 [Q8IYX8-2]3EBI-2808286,EBI-10181988
CWF19L2 [Q2TBE0]3EBI-2808286,EBI-5453285
FAM161A [Q3B820]3EBI-2808286,EBI-719941
FAM50B [Q9Y247]3EBI-2808286,EBI-742802
FAM90A1 [Q86YD7]3EBI-2808286,EBI-6658203
GPKOW [Q92917]3EBI-2808286,EBI-746309
HAUS1 [Q96CS2]3EBI-2808286,EBI-2514791
HBA2 [P69905]3EBI-2808286,EBI-714680
LENG1 [Q96BZ8]3EBI-2808286,EBI-726510
LINC00526 [Q96FQ7]3EBI-2808286,EBI-10286106
MFAP1 [P55081]3EBI-2808286,EBI-1048159
NAPRT - isoform 2 [Q6XQN6-2]3EBI-2808286,EBI-10254820
NELFE [P18615]3EBI-2808286,EBI-348444
NUMA1 [Q14980]3EBI-2808286,EBI-521611
PPHLN1 [Q8NEY8]3EBI-2808286,EBI-474076
PPP1R18 [Q6NYC8]3EBI-2808286,EBI-2557469
PRAM1 [Q96QH2]3EBI-2808286,EBI-2860740
PRPF31 [Q8WWY3]3EBI-2808286,EBI-1567797
PRR3 [P79522]3EBI-2808286,EBI-2803328
PTPN7 [P35236]3EBI-2808286,EBI-2265723
RAB3IL1 [Q8TBN0]3EBI-2808286,EBI-743796
ROBO3 [Q96HH0]3EBI-2808286,EBI-10288358
TBC1D22B [Q9NU19]3EBI-2808286,EBI-8787464
TLE5 [Q08117]3EBI-2808286,EBI-717810
TMEM100 [Q9NV29]3EBI-2808286,EBI-8644968
TSGA10IP [Q3SY00]3EBI-2808286,EBI-10241197
USP15 [Q9Y4E8]3EBI-2808286,EBI-1043104
USP2 [O75604]3EBI-2808286,EBI-743272
UTP14C [Q08E77]3EBI-2808286,EBI-10225961
ZFC3H1 [G3V1X1]3EBI-2808286,EBI-6448783
ZGPAT [Q8N5A5]3EBI-2808286,EBI-3439227
ZMAT2 [Q96NC0]3EBI-2808286,EBI-2682299
ZNF417 [Q8TAU3]3EBI-2808286,EBI-740727
Isoform 2 [Q2TAC2-2]
With#Exp.IntAct
ABI1 - isoform 5 [Q8IZP0-5]3EBI-10961624,EBI-11743294
ABI2 - isoform 2 [Q9NYB9-2]3EBI-10961624,EBI-11096309
ABLIM1 - isoform 4 [O14639-4]3EBI-10961624,EBI-11030084
AMOTL2 [Q9Y2J4]3EBI-10961624,EBI-746752
ANKRD23 [Q86SG2]3EBI-10961624,EBI-5661893
ARID5A [Q03989]3EBI-10961624,EBI-948603
AXIN1 [A0A0S2Z4M1]3EBI-10961624,EBI-16429430
AXIN1 [O15169]3EBI-10961624,EBI-710484
BCAR3 [O75815]3EBI-10961624,EBI-702336
BEX2 [Q9BXY8]3EBI-10961624,EBI-745073
C19orf44 - isoform 2 [Q9H6X5-2]3EBI-10961624,EBI-12061599
C2CD6 [Q53TS8]3EBI-10961624,EBI-739879
C4orf45 [Q96LM5]3EBI-10961624,EBI-12020542
CBY2 - isoform 2 [Q8NA61-2]3EBI-10961624,EBI-11524851
CCDC120 [Q96HB5]3EBI-10961624,EBI-744556
CFAP53 [Q96M91]3EBI-10961624,EBI-742422
COIL [P38432]3EBI-10961624,EBI-945751
CRTC2 [Q53ET0]3EBI-10961624,EBI-1181987
DCLK2 [G5E9L9]3EBI-10961624,EBI-12174057
DISC1 - isoform 2 [Q9NRI5-2]3EBI-10961624,EBI-11988027
DTX2 [Q86UW9]3EBI-10961624,EBI-740376
EFHC2 [Q5JST6]3EBI-10961624,EBI-2349927
EIF3D [O15371]3EBI-10961624,EBI-353818
EIF4G1 - isoform 9 [Q04637-9]3EBI-10961624,EBI-12012124
ELOA [Q14241]3EBI-10961624,EBI-742350
EMILIN3 [Q9NT22]3EBI-10961624,EBI-3197883
ESS2 [Q96DF8]3EBI-10961624,EBI-3928124
FAM107A - isoform 4 [O95990-4]3EBI-10961624,EBI-11977223
FAM161A [Q3B820]6EBI-10961624,EBI-719941
FAM161B [Q96MY7]6EBI-10961624,EBI-7225287
FAM228A [Q86W67]3EBI-10961624,EBI-12958227
FAM90A1 [Q86YD7]3EBI-10961624,EBI-6658203
FH [P07954]3EBI-10961624,EBI-1050358
FOXD4L1 [Q9NU39]3EBI-10961624,EBI-11320806
FTO - isoform 2 [Q9C0B1-2]3EBI-10961624,EBI-18138793
GFAP [P14136]3EBI-10961624,EBI-744302
GIGYF1 [O75420]3EBI-10961624,EBI-947774
GPBP1 [Q86WP2]3EBI-10961624,EBI-2349758
GRPEL1 [Q9HAV7]3EBI-10961624,EBI-1043499
HDX [Q7Z353]3EBI-10961624,EBI-1052734
IHO1 [Q8IYA8]3EBI-10961624,EBI-8638439
IKZF3 [Q9UKT9]5EBI-10961624,EBI-747204
INCA1 [Q0VD86]3EBI-10961624,EBI-6509505
INTS2 [Q9H0H0]3EBI-10961624,EBI-8471507
JRK - isoform 2 [O75564-2]3EBI-10961624,EBI-17181882
KANK2 [Q63ZY3]3EBI-10961624,EBI-2556193
KIAA0408 [Q6ZU52]3EBI-10961624,EBI-739493
KLF1 [Q13351]3EBI-10961624,EBI-8284732
KLF15 [Q9UIH9]3EBI-10961624,EBI-2796400
KPRP [Q5T749]3EBI-10961624,EBI-10981970
KRT4 [P19013]3EBI-10961624,EBI-2371606
KRT76 [Q01546]3EBI-10961624,EBI-2952745
KRTAP13-2 [Q52LG2]3EBI-10961624,EBI-11953846
KRTAP13-3 [Q3SY46]3EBI-10961624,EBI-10241252
LENG1 [Q96BZ8]3EBI-10961624,EBI-726510
LZTS1 [Q9Y250]3EBI-10961624,EBI-1216080
MAD1L1 [Q9Y6D9]3EBI-10961624,EBI-742610
MDM1 [Q8TC05]3EBI-10961624,EBI-3951677
MT1E [P04732]3EBI-10961624,EBI-12310079
MYOZ3 [Q8TDC0]3EBI-10961624,EBI-5662487
NAB2 [Q15742]3EBI-10961624,EBI-8641936
NME4 [O00746]5EBI-10961624,EBI-744871
PAK5 [Q9P286]3EBI-10961624,EBI-741896
POM121 - isoform 2 [Q96HA1-2]3EBI-10961624,EBI-11956563
PPP1R32 - isoform 2 [Q7Z5V6-2]3EBI-10961624,EBI-12000762
PRAM1 [Q96QH2]3EBI-10961624,EBI-2860740
PRDM6 [Q9NQX0]3EBI-10961624,EBI-11320284
PROSER3 [Q2NL68]3EBI-10961624,EBI-11336487
PRPF18 [Q99633]3EBI-10961624,EBI-2798416
PRPF31 [Q8WWY3]6EBI-10961624,EBI-1567797
PSMB4 [P28070]3EBI-10961624,EBI-603350
PTCHD3 [Q3KNS1]3EBI-10961624,EBI-2860313
RASD1 [Q9Y272]3EBI-10961624,EBI-740818
RBM48 [Q5RL73]3EBI-10961624,EBI-473821
RDM1 [Q8NG50]5EBI-10961624,EBI-10288724
RINT1 [Q6NUQ1]3EBI-10961624,EBI-726876
RNF6 [A0A0S2Z4G9]3EBI-10961624,EBI-16428950
ROBO3 [Q96HH0]3EBI-10961624,EBI-10288358
RUSC1 [Q9BVN2]3EBI-10961624,EBI-6257312
SH3KBP1 [Q96B97]3EBI-10961624,EBI-346595
SHISA6 [Q6ZSJ9]3EBI-10961624,EBI-12037847
SLC25A48 - isoform 3 [Q6ZT89-3]3EBI-10961624,EBI-12065614
SMG9 [Q9H0W8]3EBI-10961624,EBI-2872322
SMRP1 [Q8NCR6]3EBI-10961624,EBI-10269322
SNRNP35 - isoform 2 [Q16560-2]3EBI-10961624,EBI-12938570
SORBS3 [O60504]3EBI-10961624,EBI-741237
SPRY1 [O43609]3EBI-10961624,EBI-3866665
SYT6 - isoform 2 [Q5T7P8-2]3EBI-10961624,EBI-10246152
TCP10L [Q8TDR4]3EBI-10961624,EBI-3923210
TFIP11 [Q9UBB9]3EBI-10961624,EBI-1105213
TFPT [P0C1Z6]3EBI-10961624,EBI-1245626
TIMM44 [O43615]3EBI-10961624,EBI-861737
TMEM100 [Q9NV29]3EBI-10961624,EBI-8644968
TNNI1 [P19237]3EBI-10961624,EBI-746692
TP53BP2 [Q05BL1]3EBI-10961624,EBI-11952721
TRIM14 [Q14142]3EBI-10961624,EBI-2820256
TRIM29 [Q14134]6EBI-10961624,EBI-702370
TSEN54 [Q7Z6J9]3EBI-10961624,EBI-2559824
TSGA10IP [Q3SY00]3EBI-10961624,EBI-10241197
TSHZ2 [Q9NRE2]3EBI-10961624,EBI-10687282
TXLNA [P40222]3EBI-10961624,EBI-359793
VPS52 [Q8N1B4]3EBI-10961624,EBI-2799833
YJU2 [Q9BW85]3EBI-10961624,EBI-10300345
ZBTB4 [Q9P1Z0]3EBI-10961624,EBI-2564133
ZC2HC1C - isoform 2 [Q53FD0-2]3EBI-10961624,EBI-14104088
ZGPAT - isoform 2 [Q8N5A5-2]3EBI-10961624,EBI-10183064
ZNF436 [Q9C0F3]3EBI-10961624,EBI-8489702
ZNF474 [Q6S9Z5]3EBI-10961624,EBI-17269964
ZNF552 [Q9H707]3EBI-10961624,EBI-2555731
ZNF648 [Q5T619]3EBI-10961624,EBI-11985915
ZNF655 [Q8N720]3EBI-10961624,EBI-625509
ZNF688 [A0A0S2Z5X4]3EBI-10961624,EBI-16429014
ZNF835 [Q9Y2P0]3EBI-10961624,EBI-5667516
ZSWIM3 [Q96MP5]3EBI-10961624,EBI-5235554

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		129725, 161 interactors

Protein interaction database and analysis system

More...IntActi		Q2TAC2, 152 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000374292

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q2TAC2, 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		Q2TAC2

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 coili92 – 173Sequence analysisAdd BLAST82
Coiled coili214 – 422Sequence analysisAdd BLAST209
Coiled coili456 – 483Sequence analysisAdd BLAST28
Coiled coili521 – 548Sequence analysisAdd BLAST28

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

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QSW3, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153251

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_011424_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q2TAC2

Database of Orthologous Groups

More...OrthoDBi		490834at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q2TAC2

TreeFam database of animal gene trees

More...TreeFami		TF333001

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR042481, CCDC57

The PANTHER Classification System

More...PANTHERi		PTHR46725, PTHR46725, 2 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%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>Sequences (2+)i

<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.

This entry describes 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q2TAC2-1) [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
MLPLGSEPAL NELLLRKEEE WRALQAHRTQ LQEAALQDTR SQLEEAQGKL 
        60         70         80         90        100
RCLQEDFVYN LQVLEERDLE LERYDAAFAQ AREWEEARRA EVSELKIEAA 
       110        120        130        140        150
KLRQALAREA RKVEELQQQQ QLAFQEHRLE LERVHSDKNG EIDHHREQYE 
       160        170        180        190        200
NLKWTLERKL EELDGELALQ RQELLLEFES KMRKREHEFR LQADNMSNTA 
       210        220        230        240        250
LSRELKVKLL HKELEALKEA GAKAAESLQR AEATNAELER KLQSRAGELQ 
       260        270        280        290        300
DLEAMSRARV KDLEDKLHSV QLTRKKEEET FKRKHEELDR LAREKDAVLV 
       310        320        330        340        350
AVKGAHVEQL QELQTRVLEL QAHCETLEAQ LRRAEWRQAD TAKEKDAAID 
       360        370        380        390        400
QLREDASTVK SAWDAQIAQL SKEMVSRDLQ IQTLQEEEVK LKAQVARSQQ 
       410        420        430        440        450
DIERYKQQLS LAVERERSLE RDQVQLGLDW QRRCDDIERD QIQKSEALIQ 
       460        470        480        490        500
GLSMAKSQVA AKLQETEQAL QEQEVVLKAV TLERDQAVQA LRMHGLPRPG 
       510        520        530        540        550
AQMLLRQHEE EISKDFPSSE IQRLREQNTS LRNAIAQMRK EMEALSHQIP 
       560        570        580        590        600
PPIQTAAEST DANQPDPEAG GDAATPDYVL ALEAEIRTLK HKFKTLEKHL 
       610        620        630        640        650
EDVLDPLKMS SPHAESQPSV RTSTETTGGS AQAGQAGGSV QAGQAGGSVQ 
       660        670        680        690        700
AGPVSSGLAL RKLGDRVQLL NLLVTRLRQK VLREPLEPAA LQRELPREVD 
       710        720        730        740        750
QVHLEVLELR KQVAELGKHL RIAQHGGAEP SGRKQPPASD AVALGREDAK 
       760        770        780        790        800
SAEDEAPSRH LGKHQPRSAQ VGSRLDALQG PKTQHSIHTV TCKSPRQKED 
       810        820        830        840        850
RSPKPPQAPQ HPEEHGRQSH SSSSFASGTL QDMWRLLDLG SSPSGVTSQG 
       860        870        880        890        900
DSTPELPAPP AADRRPVKMQ AGIATPGMKT AAQAKAKTTG ASRSHPAKAK 
       910 
GCQRPPKIRN YNIMD
Length:915
Mass (Da):103,039
Last modified:April 10, 2019 - 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:iEACE3433538F7FC2
GO
Isoform 2 (identifier: Q2TAC2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     748-751: DAKS → VGAR
     752-915: Missing.

Show »
Length:751
Mass (Da):85,465
Checksum:i5523C434F52B646F
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PDF5E9PDF5_HUMAN
Coiled-coil domain-containing prote...
CCDC57
352Annotation 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>
K7N7D6K7N7D6_HUMAN
Coiled-coil domain-containing prote...
CCDC57
490Annotation 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>
A0A590UJT6A0A590UJT6_HUMAN
Coiled-coil domain-containing prote...
CCDC57
1,027Annotation 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>
H7BYI8H7BYI8_HUMAN
Coiled-coil domain-containing prote...
CCDC57
212Annotation 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>
J3QQX7J3QQX7_HUMAN
Coiled-coil domain-containing prote...
CCDC57
54Annotation 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>
J3KRQ8J3KRQ8_HUMAN
Coiled-coil domain-containing prote...
CCDC57
35Annotation 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>
J3KSU5J3KSU5_HUMAN
Coiled-coil domain-containing prote...
CCDC57
45Annotation 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>
A0A494BX66A0A494BX66_HUMAN
Coiled-coil domain-containing prote...
CCDC57
916Annotation 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 AAI10998 differs from that shown. Aberrant splicing.Curated
The sequence EAW89746 differs from that shown. Reason: Erroneous gene model prediction.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 conflicti458Q → K in BAB84885 (PubMed:12693554).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_032516237E → Q. Corresponds to variant dbSNP:rs34543170Ensembl.1
Natural variantiVAR_032517321Q → R. Corresponds to variant dbSNP:rs7406116Ensembl.1
Natural variantiVAR_032518480V → M1 PublicationCorresponds to variant dbSNP:rs7209474Ensembl.1
Natural variantiVAR_032519774R → G. Corresponds to variant dbSNP:rs4625783Ensembl.1
Natural variantiVAR_032520776D → N. Corresponds to variant dbSNP:rs7406163Ensembl.1
Natural variantiVAR_032521777A → T. Corresponds to variant dbSNP:rs7406162Ensembl.1
Natural variantiVAR_032522810Q → K. Corresponds to variant dbSNP:rs7213172Ensembl.1
Natural variantiVAR_032523833M → T. Corresponds to variant dbSNP:rs11077969Ensembl.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_025802748 – 751DAKS → VGAR in isoform 2. 2 Publications4
Alternative sequenceiVSP_025803752 – 915Missing in isoform 2. 2 PublicationsAdd BLAST164

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
AC129510 Genomic DNA No translation available.
AC132872 Genomic DNA No translation available.
AC135056 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89746.1 Sequence problems.
BC040264 mRNA Translation: AAH40264.1
BC110997 mRNA Translation: AAI10998.1 Sequence problems.
AK074059 mRNA Translation: BAB84885.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11803.1 [Q2TAC2-2]

NCBI Reference Sequences

More...RefSeqi		NP_001303250.1, NM_001316321.1 [Q2TAC2-2]
NP_932348.2, NM_198082.2 [Q2TAC2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000389641; ENSP00000374292; ENSG00000176155 [Q2TAC2-1]
ENST00000392343; ENSP00000376154; ENSG00000176155 [Q2TAC2-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		284001

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:284001

UCSC genome browser

More...UCSCi		uc002kdz.2, human [Q2TAC2-1]

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
AC129510 Genomic DNA No translation available.
AC132872 Genomic DNA No translation available.
AC135056 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89746.1 Sequence problems.
BC040264 mRNA Translation: AAH40264.1
BC110997 mRNA Translation: AAI10998.1 Sequence problems.
AK074059 mRNA Translation: BAB84885.1
CCDSiCCDS11803.1 [Q2TAC2-2]
RefSeqiNP_001303250.1, NM_001316321.1 [Q2TAC2-2]
NP_932348.2, NM_198082.2 [Q2TAC2-1]

3D structure databases

SMRiQ2TAC2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi129725, 161 interactors
IntActiQ2TAC2, 152 interactors
STRINGi9606.ENSP00000374292

PTM databases

iPTMnetiQ2TAC2
PhosphoSitePlusiQ2TAC2

Polymorphism and mutation databases

BioMutaiCCDC57
DMDMi317373337

Proteomic databases

jPOSTiQ2TAC2
MassIVEiQ2TAC2
MaxQBiQ2TAC2
PaxDbiQ2TAC2
PeptideAtlasiQ2TAC2
PRIDEiQ2TAC2
ProteomicsDBi61457 [Q2TAC2-1]
61458 [Q2TAC2-2]
TopDownProteomicsiQ2TAC2-1 [Q2TAC2-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		19887, 55 antibodies

The DNASU plasmid repository

More...DNASUi		284001

Genome annotation databases

EnsembliENST00000389641; ENSP00000374292; ENSG00000176155 [Q2TAC2-1]
ENST00000392343; ENSP00000376154; ENSG00000176155 [Q2TAC2-2]
GeneIDi284001
KEGGihsa:284001
UCSCiuc002kdz.2, human [Q2TAC2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		284001
DisGeNETi284001
EuPathDBiHostDB:ENSG00000176155.18

GeneCards: human genes, protein and diseases

More...GeneCardsi		CCDC57
HGNCiHGNC:27564, CCDC57
HPAiENSG00000176155, Low tissue specificity
neXtProtiNX_Q2TAC2
OpenTargetsiENSG00000176155
PharmGKBiPA142672173

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QSW3, Eukaryota
GeneTreeiENSGT00940000153251
HOGENOMiCLU_011424_1_0_1
InParanoidiQ2TAC2
OrthoDBi490834at2759
PhylomeDBiQ2TAC2
TreeFamiTF333001

Enzyme and pathway databases

PathwayCommonsiQ2TAC2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		284001, 2 hits in 94 CRISPR screens

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

More...ChiTaRSi		CCDC57, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CCDC57

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

More...GenomeRNAii		284001
PharosiQ2TAC2, Tdark

Protein Ontology

More...PROi		PR:Q2TAC2
RNActiQ2TAC2, protein

Gene expression databases

BgeeiENSG00000176155, Expressed in left lobe of thyroid gland and 181 other tissues
ExpressionAtlasiQ2TAC2, baseline and differential
GenevisibleiQ2TAC2, HS

Family and domain databases

InterProiView protein in InterPro
IPR042481, CCDC57
PANTHERiPTHR46725, PTHR46725, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiCCD57_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: Q2TAC2
Secondary accession number(s): A6NP51
, A8MQC7, Q8IWG2, Q8TER3
<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 29, 2007
Last sequence update: April 10, 2019
Last modified: December 2, 2020
This is version 122 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

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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