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Protein

Coiled-coil domain-containing protein 7

Gene

CCDC7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

May play a role in tumorigenesis.By similarity

Enzyme and pathway databases

BioCyciZFISH:G66-32622-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 7
Alternative name(s):
Protein BIOT2
Gene namesi
Name:CCDC7
Synonyms:BIOT2, C10orf68
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:26533. CCDC7.

Pathology & Biotechi

Organism-specific databases

DisGeNETi79741.
OpenTargetsiENSG00000216937.
PharmGKBiPA134879457.
PA134955273.

Polymorphism and mutation databases

BioMutaiC10orf68.
CCDC7.
DMDMi317373344.
48428133.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000893991 – 1385Coiled-coil domain-containing protein 7Add BLAST1385

Proteomic databases

PaxDbiQ96M83.
Q9H943.
PRIDEiQ96M83.

PTM databases

iPTMnetiQ96M83.
PhosphoSitePlusiQ96M83.

Expressioni

Tissue specificityi

Expressed in epithelium of normal cervix and cervical cancer. Overexpressed in early and interim cervical cancer.1 Publication

Gene expression databases

BgeeiENSG00000216937.
CleanExiHS_CCDC7.
ExpressionAtlasiQ96M83. baseline and differential.
GenevisibleiQ96M83. HS.

Interactioni

Protein-protein interaction databases

BioGridi122854. 4 interactors.
IntActiQ96M83. 3 interactors.
MINTiMINT-1438908.
STRINGi9606.ENSP00000277657.

Structurei

3D structure databases

ProteinModelPortaliQ96M83.
SMRiQ96M83.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili299 – 330Sequence analysisAdd BLAST32
Coiled coili374 – 411Sequence analysisAdd BLAST38

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410II8P. Eukaryota.
ENOG411157R. LUCA.
GeneTreeiENSGT00390000009751.
HOGENOMiHOG000111445.
HOVERGENiHBG050824.
InParanoidiQ96M83.
OMAiFENQANM.
OrthoDBiEOG091G01ZL.
TreeFamiTF337205.
TF351892.

Family and domain databases

InterProiIPR029272. CCDC7.
[Graphical view]
PfamiPF15368. BioT2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96M83-1) [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
MKPVKHLLTT SNKSANVPAL TTKKGLHNLP LSPELKEKHN AKLIHDKIEP
60 70 80 90 100
MVLRSPPTGE SILRYALPIP SSKTKNLLPE DEMIGKIIKH LKMVVSTLEE
110 120 130 140 150
TYGHCDQNGE EPFVKHEHEE LSLSVGDDMN SFLTYCSQFA AQLEEALKEE
160 170 180 190 200
QNILESLFKW FQWQVNQMEE ISKDQTLLQA EPPKPDKTVI LNIAEIVRLV
210 220 230 240 250
QRFEELKNRL KQRSKSSVKV MLSKTMDKEN RPEAVKSCEA LAQKIEEFLE
260 270 280 290 300
AHSTDEFKDV SATEPQTAHS MTNRFNAMLK VFENQANMLE RAVNDQVLLD
310 320 330 340 350
AEYKQMQCDF QLLSEEKLVL ENELQKLKDK EKTKPTNNRT KKAVKTVKKK
360 370 380 390 400
DKGKSEDSEK KMSPEKEFKI KEDLDQVQKV ARLEIENKVL QEQLKQALQE
410 420 430 440 450
AEKAKHQLNY FLNQEKLLKS EGKTETTMQV GNSQTKVKGE DSKNIPLEKE
460 470 480 490 500
TRKSLVSDSG GQRTSDKIQE YPQITAQSGR LIEKSSEKKR SSPAISDLSQ
510 520 530 540 550
ILKSQDESAF LESSNEVSVA ENQSYKSPSE THDKSLTTVS SSKEVQDSLS
560 570 580 590 600
VGTLAQKNET VISPFILPPV LTESKKADVS EEQLQKMTEE QTYQAAEKSQ
610 620 630 640 650
ADSEVPDENL MVENKDSVTK VQIEQMKQRT SSMERHEETL TTPQLPEDMV
660 670 680 690 700
LVSRIQSETK NLKATRNESF HSHNDVPEEN LMLEQDTKSK TEVEVKKQKS
710 720 730 740 750
FQDNQLSTHN EVPNERLVVE HQESLSKTKL QIKKQETSTE QPLTTPDKEP
760 770 780 790 800
NENLILRHQD SMSKSEMQVK EQRTLKGQRI ITHDEEPGKN LVLEHQDSVS
810 820 830 840 850
KLEMQIEKTK KLPREKRHST HDEESGENPM LKHQDSVSKI QVQLEIQETS
860 870 880 890 900
EGEGRSIPDK NSMFVHQDSV SKLQMQEKKK ITPGRERRNT RIVVPNENVI
910 920 930 940 950
SVHQDSKSKL QMQEKKQINS GVERHKTFPL EIKKKDISLE HLLPEEKVLL
960 970 980 990 1000
SRSESQTKKL QAKVTSRKIK NEAASELPDT AENLPAMYPS ISDLIIQFDL
1010 1020 1030 1040 1050
NKVVETDIES LRGALGRRLL NDEFKTQSKS FPGPDIEQLT DAFGRDILKD
1060 1070 1080 1090 1100
EFKTRSKSLP ETDERLHSTT ERGTINDAIK TQLKRKSYPE TVLKHLKGVN
1110 1120 1130 1140 1150
GKDIIKHLIN IQSKSHGETD KEHLADDTGR GIIKGSINAQ LKGHQKTDKN
1160 1170 1180 1190 1200
FFAYATGRGL MKESTTTQLK SHPETDKEFL ADAIGRGIII GPITTQLKSH
1210 1220 1230 1240 1250
RETDKELLKD AIGRDIIKGP ISAQLKSHQE TDVEPLTNAI GSSKTIGEIK
1260 1270 1280 1290 1300
TQLRTHYDVN LFKNKDMSVQ RQEGIFTRSI TPSKFPTKVI NLSPFENKEE
1310 1320 1330 1340 1350
TYEYSSPYVT APSKAIYRTY RAGPSFSKDI HLPLLNQLPS GHSKVVTLSQ
1360 1370 1380
KTIEFTLPTV TNTVGKPTYK VLHAAARKSV PHPYF
Length:1,385
Mass (Da):157,448
Last modified:June 8, 2016 - v3
Checksum:i90D132BC39C458C7
GO
Isoform 2 (identifier: Q96M83-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-267: T → L
     268-1385: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:267
Mass (Da):30,493
Checksum:i5980867D49E63675
GO
Isoform 3 (identifier: Q96M83-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     485-486: SS → RC
     487-1385: Missing.

Note: No experimental confirmation available.
Show »
Length:486
Mass (Da):55,780
Checksum:iA1BD75D04CCF56EE
GO
Isoform 4 (identifier: Q96M83-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     474-479: ITAQSG → LREETI
     480-1385: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:479
Mass (Da):55,065
Checksum:i46BD3A8BD5C313C4
GO
Isoform 5 (identifier: Q96M83-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     474-516: ITAQSGRLIE...ESAFLESSNE → AVQETWCRHL...LIMKYQMKGL
     517-1385: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:516
Mass (Da):59,420
Checksum:iE1C24013DA045F1F
GO

Sequence cautioni

The sequence AAI25092 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated
The sequence BAB14400 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated
The sequence BAC05140 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1055R → Q in BAC05140 (PubMed:14702039).Curated1
Sequence conflicti1287T → A in BAC05140 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061586148K → Q.Corresponds to variant rs56391924dbSNPEnsembl.1
Natural variantiVAR_050766449K → T.Corresponds to variant rs12268559dbSNPEnsembl.1
Natural variantiVAR_0336921117G → A.1 PublicationCorresponds to variant rs4448627dbSNPEnsembl.1
Natural variantiVAR_0243081267M → T.Corresponds to variant rs2504011dbSNPEnsembl.1
Natural variantiVAR_0336931364V → I.1 PublicationCorresponds to variant rs1418538dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_010525267T → L in isoform 2. 1 Publication1
Alternative sequenceiVSP_010526268 – 1385Missing in isoform 2. 1 PublicationAdd BLAST1118
Alternative sequenceiVSP_058366474 – 516ITAQS…ESSNE → AVQETWCRHLLLARASGSFY SCRKVKWEQICHTLIMKYQM KGL in isoform 5. Add BLAST43
Alternative sequenceiVSP_058367474 – 479ITAQSG → LREETI in isoform 4. 6
Alternative sequenceiVSP_058368480 – 1385Missing in isoform 4. Add BLAST906
Alternative sequenceiVSP_058369485 – 486SS → RC in isoform 3. 2
Alternative sequenceiVSP_058370487 – 1385Missing in isoform 3. Add BLAST899
Alternative sequenceiVSP_058371517 – 1385Missing in isoform 5. Add BLAST869

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023093 mRNA. Translation: BAB14400.1. Sequence problems.
AK057324 mRNA. Translation: BAB71426.1.
AK097668 mRNA. Translation: BAC05140.1. Different initiation.
AL354750 Genomic DNA. No translation available.
AL356053 Genomic DNA. No translation available.
AL365203 Genomic DNA. No translation available.
AL391839 Genomic DNA. No translation available.
AL591850 Genomic DNA. No translation available.
CH471072 Genomic DNA. Translation: EAW85966.1.
BC022020 mRNA. Translation: AAH22020.2.
BC042672 mRNA. Translation: AAH42672.1.
BC125091 mRNA. Translation: AAI25092.1. Sequence problems.
CCDSiCCDS7173.1. [Q96M83-3]
RefSeqiNP_001021554.1. NM_001026383.2. [Q96M83-3]
NP_001308044.1. NM_001321115.1. [Q96M83-1]
NP_659460.3. NM_145023.5. [Q96M83-3]
XP_011517965.1. XM_011519663.1. [Q96M83-1]
UniGeneiHs.585464.

Genome annotation databases

EnsembliENST00000277657; ENSP00000277657; ENSG00000216937. [Q96M83-3]
ENST00000362006; ENSP00000355078; ENSG00000216937. [Q96M83-3]
GeneIDi79741.
KEGGihsa:79741.
UCSCiuc001iwj.5. human. [Q96M83-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023093 mRNA. Translation: BAB14400.1. Sequence problems.
AK057324 mRNA. Translation: BAB71426.1.
AK097668 mRNA. Translation: BAC05140.1. Different initiation.
AL354750 Genomic DNA. No translation available.
AL356053 Genomic DNA. No translation available.
AL365203 Genomic DNA. No translation available.
AL391839 Genomic DNA. No translation available.
AL591850 Genomic DNA. No translation available.
CH471072 Genomic DNA. Translation: EAW85966.1.
BC022020 mRNA. Translation: AAH22020.2.
BC042672 mRNA. Translation: AAH42672.1.
BC125091 mRNA. Translation: AAI25092.1. Sequence problems.
CCDSiCCDS7173.1. [Q96M83-3]
RefSeqiNP_001021554.1. NM_001026383.2. [Q96M83-3]
NP_001308044.1. NM_001321115.1. [Q96M83-1]
NP_659460.3. NM_145023.5. [Q96M83-3]
XP_011517965.1. XM_011519663.1. [Q96M83-1]
UniGeneiHs.585464.

3D structure databases

ProteinModelPortaliQ96M83.
SMRiQ96M83.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122854. 4 interactors.
IntActiQ96M83. 3 interactors.
MINTiMINT-1438908.
STRINGi9606.ENSP00000277657.

PTM databases

iPTMnetiQ96M83.
PhosphoSitePlusiQ96M83.

Polymorphism and mutation databases

BioMutaiC10orf68.
CCDC7.
DMDMi317373344.
48428133.

Proteomic databases

PaxDbiQ96M83.
Q9H943.
PRIDEiQ96M83.

Protocols and materials databases

DNASUi221016.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000277657; ENSP00000277657; ENSG00000216937. [Q96M83-3]
ENST00000362006; ENSP00000355078; ENSG00000216937. [Q96M83-3]
GeneIDi79741.
KEGGihsa:79741.
UCSCiuc001iwj.5. human. [Q96M83-1]

Organism-specific databases

CTDi79741.
DisGeNETi79741.
GeneCardsiCCDC7.
HGNCiHGNC:26533. CCDC7.
neXtProtiNX_Q96M83.
OpenTargetsiENSG00000216937.
PharmGKBiPA134879457.
PA134955273.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II8P. Eukaryota.
ENOG411157R. LUCA.
GeneTreeiENSGT00390000009751.
HOGENOMiHOG000111445.
HOVERGENiHBG050824.
InParanoidiQ96M83.
OMAiFENQANM.
OrthoDBiEOG091G01ZL.
TreeFamiTF337205.
TF351892.

Enzyme and pathway databases

BioCyciZFISH:G66-32622-MONOMER.

Miscellaneous databases

ChiTaRSiC10orf68. human.
GenomeRNAii79741.
PROiQ96M83.

Gene expression databases

BgeeiENSG00000216937.
CleanExiHS_CCDC7.
ExpressionAtlasiQ96M83. baseline and differential.
GenevisibleiQ96M83. HS.

Family and domain databases

InterProiIPR029272. CCDC7.
[Graphical view]
PfamiPF15368. BioT2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCCDC7_HUMAN
AccessioniPrimary (citable) accession number: Q96M83
Secondary accession number(s): B0QZ71
, Q08AN7, Q5VW55, Q8IVQ0, Q8N7T7, Q8NEQ0, Q9H943
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 8, 2016
Last modified: November 30, 2016
This is version 103 of the entry and version 3 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 10
    Human chromosome 10: 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.