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Protein

Coiled-coil domain-containing protein 7

Gene

CCDC7

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

Functioni

May play a role in tumorigenesis.By similarity

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

EuPathDBiHostDB:ENSG00000150076.22
HostDB:ENSG00000216937.11
HGNCiHGNC:26533 CCDC7
neXtProtiNX_Q96M83

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
PeptideAtlasiQ96M83
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

Organism-specific databases

HPAiHPA075536

Interactioni

Protein-protein interaction databases

BioGridi122854, 4 interactors
IntActiQ96M83, 3 interactors

Structurei

3D structure databases

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

InterProiView protein in InterPro
IPR029272 CCDC7
PfamiView protein in Pfam
PF15368 BioT2, 1 hit

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 dbSNP:rs56391924Ensembl.1
Natural variantiVAR_050766449K → T. Corresponds to variant dbSNP:rs12268559Ensembl.1
Natural variantiVAR_0336921117G → A1 PublicationCorresponds to variant dbSNP:rs4448627Ensembl.1
Natural variantiVAR_0243081267M → T. Corresponds to variant dbSNP:rs2504011Ensembl.1
Natural variantiVAR_0336931364V → I1 PublicationCorresponds to variant dbSNP:rs1418538Ensembl.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]
ENST00000476558; ENSP00000436435; ENSG00000216937 [Q96M83-2]
ENST00000639629; ENSP00000491655; ENSG00000216937 [Q96M83-1]
GeneIDi79741
KEGGihsa:79741
UCSCiuc001iwj.5 human [Q96M83-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCCDC7_HUMAN
AccessioniPrimary (citable) accession number: Q96M83
Secondary accession number(s): B0QZ71
, Q08AN7, Q5VW55, Q8IVQ0, Q8N7T7, Q8NEQ0, Q9H943
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 8, 2016
Last modified: May 23, 2018
This is version 114 of the entry and version 3 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 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

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