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Protein

Coiled-coil domain-containing protein 57

Gene

CCDC57

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 57
Gene namesi
Name:CCDC57
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000176155.18
HGNCiHGNC:27564 CCDC57
neXtProtiNX_Q2TAC2

Pathology & Biotechi

Organism-specific databases

DisGeNETi284001
OpenTargetsiENSG00000176155
PharmGKBiPA142672173

Polymorphism and mutation databases

BioMutaiCCDC57
DMDMi317373337

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002888711 – 916Coiled-coil domain-containing protein 57Add BLAST916

Proteomic databases

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

PTM databases

iPTMnetiQ2TAC2
PhosphoSitePlusiQ2TAC2

Expressioni

Gene expression databases

BgeeiENSG00000176155 Expressed in 166 organ(s), highest expression level in liver
CleanExiHS_CCDC57
ExpressionAtlasiQ2TAC2 baseline and differential
GenevisibleiQ2TAC2 HS

Organism-specific databases

HPAiHPA023315
HPA023326
HPA023342
HPA023344

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi129725, 52 interactors
IntActiQ2TAC2, 146 interactors
STRINGi9606.ENSP00000374292

Structurei

3D structure databases

ProteinModelPortaliQ2TAC2
SMRiQ2TAC2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili25 – 487Sequence analysisAdd BLAST463
Coiled coili518 – 605Sequence analysisAdd BLAST88

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJ7V Eukaryota
ENOG410XPZ8 LUCA
GeneTreeiENSGT00390000010571
HOGENOMiHOG000111424
HOVERGENiHBG096613
InParanoidiQ2TAC2
OMAiSSLQDTW
OrthoDBiEOG091G05KS
PhylomeDBiQ2TAC2
TreeFamiTF333001

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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 AVALGREQDA
760 770 780 790 800
KSAEDEAPSR HLGKHQPRSA QVGSRLDALQ GPKTQHSIHT VTCKSPRQKE
810 820 830 840 850
DRSPKPPQAP QHPEEHGRQS HSSSSFASGT LQDMWRLLDL GSSPSGVTSQ
860 870 880 890 900
GDSTPELPAP PAADRRPVKM QAGIATPGMK TAAQAKAKTT GASRSHPAKA
910
KGCQRPPKIR NYNIMD
Length:916
Mass (Da):103,167
Last modified:January 11, 2011 - v2
Checksum:i2DFCD179A1994170
GO
Isoform 2 (identifier: Q2TAC2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     748-751: QDAK → VGAR
     752-916: Missing.

Show »
Length:751
Mass (Da):85,465
Checksum:i5523C434F52B646F
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7N7D6K7N7D6_HUMAN
Coiled-coil domain-containing prote...
CCDC57
490Annotation score:
E9PDF5E9PDF5_HUMAN
Coiled-coil domain-containing prote...
CCDC57
352Annotation score:
J3KRQ8J3KRQ8_HUMAN
Coiled-coil domain-containing prote...
CCDC57
35Annotation score:
J3QQX7J3QQX7_HUMAN
Coiled-coil domain-containing prote...
CCDC57
54Annotation score:
H7BYI8H7BYI8_HUMAN
Coiled-coil domain-containing prote...
CCDC57
212Annotation score:
J3KSU5J3KSU5_HUMAN
Coiled-coil domain-containing prote...
CCDC57
45Annotation score:

Sequence cautioni

The sequence EAW89746 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti458Q → K in BAB84885 (PubMed:12693554).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_032519775R → G. Corresponds to variant dbSNP:rs4625783Ensembl.1
Natural variantiVAR_032520777D → N. Corresponds to variant dbSNP:rs7406163Ensembl.1
Natural variantiVAR_032521778A → T. Corresponds to variant dbSNP:rs7406162Ensembl.1
Natural variantiVAR_032522811Q → K. Corresponds to variant dbSNP:rs7213172Ensembl.1
Natural variantiVAR_032523834M → T. Corresponds to variant dbSNP:rs11077969Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_025802748 – 751QDAK → VGAR in isoform 2. 2 Publications4
Alternative sequenceiVSP_025803752 – 916Missing in isoform 2. 2 PublicationsAdd BLAST165

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
AK074059 mRNA Translation: BAB84885.1
CCDSiCCDS11803.1 [Q2TAC2-2]
RefSeqiNP_001303250.1, NM_001316321.1 [Q2TAC2-2]
UniGeneiHs.631724

Genome annotation databases

EnsembliENST00000389641; ENSP00000374292; ENSG00000176155 [Q2TAC2-1]
ENST00000392343; ENSP00000376154; ENSG00000176155 [Q2TAC2-2]
ENST00000392347; ENSP00000376158; ENSG00000176155 [Q2TAC2-1]
GeneIDi284001
KEGGihsa:284001
UCSCiuc002kdz.2 human [Q2TAC2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
AK074059 mRNA Translation: BAB84885.1
CCDSiCCDS11803.1 [Q2TAC2-2]
RefSeqiNP_001303250.1, NM_001316321.1 [Q2TAC2-2]
UniGeneiHs.631724

3D structure databases

ProteinModelPortaliQ2TAC2
SMRiQ2TAC2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129725, 52 interactors
IntActiQ2TAC2, 146 interactors
STRINGi9606.ENSP00000374292

PTM databases

iPTMnetiQ2TAC2
PhosphoSitePlusiQ2TAC2

Polymorphism and mutation databases

BioMutaiCCDC57
DMDMi317373337

Proteomic databases

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

Protocols and materials databases

DNASUi284001
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389641; ENSP00000374292; ENSG00000176155 [Q2TAC2-1]
ENST00000392343; ENSP00000376154; ENSG00000176155 [Q2TAC2-2]
ENST00000392347; ENSP00000376158; ENSG00000176155 [Q2TAC2-1]
GeneIDi284001
KEGGihsa:284001
UCSCiuc002kdz.2 human [Q2TAC2-1]

Organism-specific databases

CTDi284001
DisGeNETi284001
EuPathDBiHostDB:ENSG00000176155.18
GeneCardsiCCDC57
H-InvDBiHIX0019621
HGNCiHGNC:27564 CCDC57
HPAiHPA023315
HPA023326
HPA023342
HPA023344
neXtProtiNX_Q2TAC2
OpenTargetsiENSG00000176155
PharmGKBiPA142672173
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ7V Eukaryota
ENOG410XPZ8 LUCA
GeneTreeiENSGT00390000010571
HOGENOMiHOG000111424
HOVERGENiHBG096613
InParanoidiQ2TAC2
OMAiSSLQDTW
OrthoDBiEOG091G05KS
PhylomeDBiQ2TAC2
TreeFamiTF333001

Miscellaneous databases

ChiTaRSiCCDC57 human
GeneWikiiCCDC57
GenomeRNAii284001
PROiPR:Q2TAC2

Gene expression databases

BgeeiENSG00000176155 Expressed in 166 organ(s), highest expression level in liver
CleanExiHS_CCDC57
ExpressionAtlasiQ2TAC2 baseline and differential
GenevisibleiQ2TAC2 HS

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiCCD57_HUMAN
AccessioniPrimary (citable) accession number: Q2TAC2
Secondary accession number(s): A6NP51
, A8MQC7, Q8IWG2, Q8TER3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: January 11, 2011
Last modified: November 7, 2018
This is version 104 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

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