UniProtKB - Q2TAC2 (CCD57_HUMAN)
Protein
Coiled-coil domain-containing protein 57
Gene
CCDC57
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: Coiled-coil domain-containing protein 57 |
Gene namesi | Name:CCDC57 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000176155.18 |
HGNCi | HGNC:27564, CCDC57 |
neXtProti | NX_Q2TAC2 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 284001 |
OpenTargetsi | ENSG00000176155 |
PharmGKBi | PA142672173 |
Miscellaneous databases
Pharosi | Q2TAC2, Tdark |
Polymorphism and mutation databases
BioMutai | CCDC57 |
DMDMi | 317373337 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000288871 | 1 – 915 | Coiled-coil domain-containing protein 57Add BLAST | 915 |
Proteomic databases
jPOSTi | Q2TAC2 |
MassIVEi | Q2TAC2 |
MaxQBi | Q2TAC2 |
PaxDbi | Q2TAC2 |
PeptideAtlasi | Q2TAC2 |
PRIDEi | Q2TAC2 |
ProteomicsDBi | 61457 [Q2TAC2-1] 61458 [Q2TAC2-2] |
TopDownProteomicsi | Q2TAC2-1 [Q2TAC2-1] |
PTM databases
iPTMneti | Q2TAC2 |
PhosphoSitePlusi | Q2TAC2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000176155, Expressed in left lobe of thyroid gland and 181 other tissues |
ExpressionAtlasi | Q2TAC2, baseline and differential |
Genevisiblei | Q2TAC2, HS |
Organism-specific databases
HPAi | ENSG00000176155, Low tissue specificity |
Interactioni
Binary interactionsi
Q2TAC2
Isoform 2 [Q2TAC2-2]
Protein-protein interaction databases
BioGRIDi | 129725, 161 interactors |
IntActi | Q2TAC2, 152 interactors |
STRINGi | 9606.ENSP00000374292 |
Miscellaneous databases
RNActi | Q2TAC2, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 92 – 173 | Sequence analysisAdd BLAST | 82 | |
Coiled coili | 214 – 422 | Sequence analysisAdd BLAST | 209 | |
Coiled coili | 456 – 483 | Sequence analysisAdd BLAST | 28 | |
Coiled coili | 521 – 548 | Sequence analysisAdd BLAST | 28 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QSW3, Eukaryota |
GeneTreei | ENSGT00940000153251 |
HOGENOMi | CLU_011424_1_0_1 |
InParanoidi | Q2TAC2 |
OrthoDBi | 490834at2759 |
PhylomeDBi | Q2TAC2 |
TreeFami | TF333001 |
Family and domain databases
InterProi | View protein in InterPro IPR042481, CCDC57 |
PANTHERi | PTHR46725, PTHR46725, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PDF5 | E9PDF5_HUMAN | Coiled-coil domain-containing prote... | CCDC57 | 352 | Annotation score: | ||
K7N7D6 | K7N7D6_HUMAN | Coiled-coil domain-containing prote... | CCDC57 | 490 | Annotation score: | ||
A0A590UJT6 | A0A590UJT6_HUMAN | Coiled-coil domain-containing prote... | CCDC57 | 1,027 | Annotation score: | ||
H7BYI8 | H7BYI8_HUMAN | Coiled-coil domain-containing prote... | CCDC57 | 212 | Annotation score: | ||
J3QQX7 | J3QQX7_HUMAN | Coiled-coil domain-containing prote... | CCDC57 | 54 | Annotation score: | ||
J3KRQ8 | J3KRQ8_HUMAN | Coiled-coil domain-containing prote... | CCDC57 | 35 | Annotation score: | ||
J3KSU5 | J3KSU5_HUMAN | Coiled-coil domain-containing prote... | CCDC57 | 45 | Annotation score: | ||
A0A494BX66 | A0A494BX66_HUMAN | Coiled-coil domain-containing prote... | CCDC57 | 916 | Annotation score: |
Sequence cautioni
The sequence EAW89746 differs from that shown. Reason: Erroneous gene model prediction.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 458 | Q → K in BAB84885 (PubMed:12693554).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032516 | 237 | E → Q. Corresponds to variant dbSNP:rs34543170Ensembl. | 1 | |
Natural variantiVAR_032517 | 321 | Q → R. Corresponds to variant dbSNP:rs7406116Ensembl. | 1 | |
Natural variantiVAR_032518 | 480 | V → M1 PublicationCorresponds to variant dbSNP:rs7209474Ensembl. | 1 | |
Natural variantiVAR_032519 | 774 | R → G. Corresponds to variant dbSNP:rs4625783Ensembl. | 1 | |
Natural variantiVAR_032520 | 776 | D → N. Corresponds to variant dbSNP:rs7406163Ensembl. | 1 | |
Natural variantiVAR_032521 | 777 | A → T. Corresponds to variant dbSNP:rs7406162Ensembl. | 1 | |
Natural variantiVAR_032522 | 810 | Q → K. Corresponds to variant dbSNP:rs7213172Ensembl. | 1 | |
Natural variantiVAR_032523 | 833 | M → T. Corresponds to variant dbSNP:rs11077969Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_025802 | 748 – 751 | DAKS → VGAR in isoform 2. 2 Publications | 4 | |
Alternative sequenceiVSP_025803 | 752 – 915 | Missing in isoform 2. 2 PublicationsAdd BLAST | 164 |
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 |
CCDSi | CCDS11803.1 [Q2TAC2-2] |
RefSeqi | NP_001303250.1, NM_001316321.1 [Q2TAC2-2] NP_932348.2, NM_198082.2 [Q2TAC2-1] |
Genome annotation databases
Ensembli | ENST00000389641; ENSP00000374292; ENSG00000176155 [Q2TAC2-1] ENST00000392343; ENSP00000376154; ENSG00000176155 [Q2TAC2-2] |
GeneIDi | 284001 |
KEGGi | hsa:284001 |
UCSCi | uc002kdz.2, human [Q2TAC2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS11803.1 [Q2TAC2-2] |
RefSeqi | NP_001303250.1, NM_001316321.1 [Q2TAC2-2] NP_932348.2, NM_198082.2 [Q2TAC2-1] |
3D structure databases
SMRi | Q2TAC2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 129725, 161 interactors |
IntActi | Q2TAC2, 152 interactors |
STRINGi | 9606.ENSP00000374292 |
PTM databases
iPTMneti | Q2TAC2 |
PhosphoSitePlusi | Q2TAC2 |
Polymorphism and mutation databases
BioMutai | CCDC57 |
DMDMi | 317373337 |
Proteomic databases
jPOSTi | Q2TAC2 |
MassIVEi | Q2TAC2 |
MaxQBi | Q2TAC2 |
PaxDbi | Q2TAC2 |
PeptideAtlasi | Q2TAC2 |
PRIDEi | Q2TAC2 |
ProteomicsDBi | 61457 [Q2TAC2-1] 61458 [Q2TAC2-2] |
TopDownProteomicsi | Q2TAC2-1 [Q2TAC2-1] |
Protocols and materials databases
Antibodypediai | 19887, 55 antibodies |
DNASUi | 284001 |
Genome annotation databases
Ensembli | ENST00000389641; ENSP00000374292; ENSG00000176155 [Q2TAC2-1] ENST00000392343; ENSP00000376154; ENSG00000176155 [Q2TAC2-2] |
GeneIDi | 284001 |
KEGGi | hsa:284001 |
UCSCi | uc002kdz.2, human [Q2TAC2-1] |
Organism-specific databases
CTDi | 284001 |
DisGeNETi | 284001 |
EuPathDBi | HostDB:ENSG00000176155.18 |
GeneCardsi | CCDC57 |
HGNCi | HGNC:27564, CCDC57 |
HPAi | ENSG00000176155, Low tissue specificity |
neXtProti | NX_Q2TAC2 |
OpenTargetsi | ENSG00000176155 |
PharmGKBi | PA142672173 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSW3, Eukaryota |
GeneTreei | ENSGT00940000153251 |
HOGENOMi | CLU_011424_1_0_1 |
InParanoidi | Q2TAC2 |
OrthoDBi | 490834at2759 |
PhylomeDBi | Q2TAC2 |
TreeFami | TF333001 |
Enzyme and pathway databases
PathwayCommonsi | Q2TAC2 |
Miscellaneous databases
BioGRID-ORCSi | 284001, 2 hits in 94 CRISPR screens |
ChiTaRSi | CCDC57, human |
GeneWikii | CCDC57 |
GenomeRNAii | 284001 |
Pharosi | Q2TAC2, Tdark |
PROi | PR:Q2TAC2 |
RNActi | Q2TAC2, protein |
Gene expression databases
Bgeei | ENSG00000176155, Expressed in left lobe of thyroid gland and 181 other tissues |
ExpressionAtlasi | Q2TAC2, baseline and differential |
Genevisiblei | Q2TAC2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR042481, CCDC57 |
PANTHERi | PTHR46725, PTHR46725, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CCD57_HUMAN | |
Accessioni | Q2TAC2Primary (citable) accession number: Q2TAC2 Secondary accession number(s): A6NP51 Q8TER3 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations