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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-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

HGNCiHGNC:27564. CCDC57.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672173.

Polymorphism and mutation databases

BioMutaiCCDC57.
DMDMi317373337.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 916916Coiled-coil domain-containing protein 57PRO_0000288871Add
BLAST

Proteomic databases

PaxDbiQ2TAC2.
PeptideAtlasiQ2TAC2.
PRIDEiQ2TAC2.
TopDownProteomicsiQ2TAC2-1. [Q2TAC2-1]

PTM databases

iPTMnetiQ2TAC2.
PhosphoSiteiQ2TAC2.

Expressioni

Gene expression databases

BgeeiENSG00000176155.
CleanExiHS_CCDC57.
ExpressionAtlasiQ2TAC2. baseline and differential.
GenevisibleiQ2TAC2. HS.

Organism-specific databases

HPAiHPA023315.
HPA023326.
HPA023342.
HPA023344.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
A8KAD63EBI-2808286,EBI-10174974
AESQ081173EBI-2808286,EBI-717810
AQP1P299723EBI-2808286,EBI-745213
ARL4AP406173EBI-2808286,EBI-2875746
CBX8Q9HC523EBI-2808286,EBI-712912
CCDC120Q96HB5-43EBI-2808286,EBI-10185348
CDC20BQ86Y333EBI-2808286,EBI-10260504
CEP57L1Q8IYX8-23EBI-2808286,EBI-10181988
FAM161AQ3B8203EBI-2808286,EBI-719941
FAM50BQ9Y2473EBI-2808286,EBI-742802
FAM90A1Q86YD73EBI-2808286,EBI-6658203
GPKOWQ929173EBI-2808286,EBI-746309
HAUS1Q96CS23EBI-2808286,EBI-2514791
HBA2P699053EBI-2808286,EBI-714680
LENG1Q96BZ83EBI-2808286,EBI-726510
LINC00526Q96FQ73EBI-2808286,EBI-10286106
MFAP1P550813EBI-2808286,EBI-1048159
NAPRTQ6XQN6-23EBI-2808286,EBI-10254820
NELFEP186153EBI-2808286,EBI-348444
NUMA1Q149803EBI-2808286,EBI-521611
PPHLN1Q8NEY83EBI-2808286,EBI-474076
PPP1R18Q6NYC83EBI-2808286,EBI-2557469
PRAM1Q96QH23EBI-2808286,EBI-2860740
PRPF31F1T0A53EBI-2808286,EBI-10177194
PRR3P795223EBI-2808286,EBI-2803328
PTPN7P352363EBI-2808286,EBI-2265723
RAB3IL1Q8TBN03EBI-2808286,EBI-743796
ROBO3Q96HH03EBI-2808286,EBI-10288358
TBC1D22BQ9NU193EBI-2808286,EBI-8787464
TMEM100Q9NV293EBI-2808286,EBI-8644968
TSGA10IPQ3SY003EBI-2808286,EBI-10241197
USP15Q9Y4E83EBI-2808286,EBI-1043104
USP2O756043EBI-2808286,EBI-743272
UTP14CQ08E773EBI-2808286,EBI-10225961
ZFC3H1G3V1X13EBI-2808286,EBI-6448783
ZGPATQ8N5A53EBI-2808286,EBI-3439227
ZMAT2Q96NC03EBI-2808286,EBI-2682299
ZNF417Q8TAU33EBI-2808286,EBI-740727

Protein-protein interaction databases

BioGridi129725. 50 interactions.
IntActiQ2TAC2. 46 interactions.
STRINGi9606.ENSP00000374292.

Structurei

3D structure databases

ProteinModelPortaliQ2TAC2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili25 – 487463Sequence analysisAdd
BLAST
Coiled coili518 – 60588Sequence analysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJ7V. Eukaryota.
ENOG410XPZ8. LUCA.
GeneTreeiENSGT00390000010571.
HOGENOMiHOG000111424.
HOVERGENiHBG096613.
InParanoidiQ2TAC2.
OMAiTFKRKHE.
OrthoDBiEOG091G05KS.
PhylomeDBiQ2TAC2.
TreeFamiTF333001.

Sequences (2)i

Sequence statusi: Complete.

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

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

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti458 – 4581Q → K in BAB84885 (PubMed:12693554).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti237 – 2371E → Q.
Corresponds to variant rs34543170 [ dbSNP | Ensembl ].
VAR_032516
Natural varianti321 – 3211Q → R.
Corresponds to variant rs7406116 [ dbSNP | Ensembl ].
VAR_032517
Natural varianti480 – 4801V → M.1 Publication
Corresponds to variant rs7209474 [ dbSNP | Ensembl ].
VAR_032518
Natural varianti775 – 7751R → G.
Corresponds to variant rs4625783 [ dbSNP | Ensembl ].
VAR_032519
Natural varianti777 – 7771D → N.
Corresponds to variant rs7406163 [ dbSNP | Ensembl ].
VAR_032520
Natural varianti778 – 7781A → T.
Corresponds to variant rs7406162 [ dbSNP | Ensembl ].
VAR_032521
Natural varianti811 – 8111Q → K.
Corresponds to variant rs7213172 [ dbSNP | Ensembl ].
VAR_032522
Natural varianti834 – 8341M → T.
Corresponds to variant rs11077969 [ dbSNP | Ensembl ].
VAR_032523

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei748 – 7514QDAK → VGAR in isoform 2. 2 PublicationsVSP_025802
Alternative sequencei752 – 916165Missing in isoform 2. 2 PublicationsVSP_025803Add
BLAST

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.
RefSeqiNP_001303250.1. NM_001316321.1. [Q2TAC2-2]
NP_932348.2. NM_198082.2.
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

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.
RefSeqiNP_001303250.1. NM_001316321.1. [Q2TAC2-2]
NP_932348.2. NM_198082.2.
UniGeneiHs.631724.

3D structure databases

ProteinModelPortaliQ2TAC2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129725. 50 interactions.
IntActiQ2TAC2. 46 interactions.
STRINGi9606.ENSP00000374292.

PTM databases

iPTMnetiQ2TAC2.
PhosphoSiteiQ2TAC2.

Polymorphism and mutation databases

BioMutaiCCDC57.
DMDMi317373337.

Proteomic databases

PaxDbiQ2TAC2.
PeptideAtlasiQ2TAC2.
PRIDEiQ2TAC2.
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.
GeneCardsiCCDC57.
H-InvDBHIX0019621.
HGNCiHGNC:27564. CCDC57.
HPAiHPA023315.
HPA023326.
HPA023342.
HPA023344.
neXtProtiNX_Q2TAC2.
PharmGKBiPA142672173.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ7V. Eukaryota.
ENOG410XPZ8. LUCA.
GeneTreeiENSGT00390000010571.
HOGENOMiHOG000111424.
HOVERGENiHBG096613.
InParanoidiQ2TAC2.
OMAiTFKRKHE.
OrthoDBiEOG091G05KS.
PhylomeDBiQ2TAC2.
TreeFamiTF333001.

Miscellaneous databases

ChiTaRSiCCDC57. human.
GeneWikiiCCDC57.
GenomeRNAii284001.
PROiQ2TAC2.

Gene expression databases

BgeeiENSG00000176155.
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 historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: January 11, 2011
Last modified: September 7, 2016
This is version 87 of the entry and version 2 of the sequence. [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 chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.