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Entry version 121 (13 Feb 2019)
Sequence version 3 (08 Jun 2016)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May play a role in tumorigenesis.By similarity

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Coiled-coil domain-containing protein 7
Alternative name(s):
Protein BIOT2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CCDC7
Synonyms:BIOT2, C10orf68
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000150076.22
HostDB:ENSG00000216937.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26533 CCDC7

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96M83

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
79741

Open Targets

More...
OpenTargetsi
ENSG00000216937

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134879457

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CCDC7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
48428133

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000893991 – 1385Coiled-coil domain-containing protein 7Add BLAST1385

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96M83

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96M83

PeptideAtlas

More...
PeptideAtlasi
Q96M83

PRoteomics IDEntifications database

More...
PRIDEi
Q96M83

ProteomicsDB human proteome resource

More...
ProteomicsDBi
77306
77307 [Q96M83-2]
81280
81281
81282

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96M83

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96M83

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000216937 Expressed in 89 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96M83 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96M83 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA075536

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122854, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q96M83, 7 interactors

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96M83

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili299 – 330Sequence analysisAdd BLAST32
Coiled coili374 – 411Sequence analysisAdd BLAST38

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410II8P Eukaryota
ENOG410J0QB Eukaryota
ENOG411157R LUCA
ENOG41117EC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000009751

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230915

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG079994

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96M83

Identification of Orthologs from Complete Genome Data

More...
OMAi
WFQRQVN

Database of Orthologous Groups

More...
OrthoDBi
1514586at2759

TreeFam database of animal gene trees

More...
TreeFami
TF337205
TF351892

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029272 CCDC7

The PANTHER Classification System

More...
PANTHERi
PTHR22035 PTHR22035, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15368 BioT2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PNE7A0A1W2PNE7_HUMAN
Coiled-coil domain-containing prote...
CCDC7
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1C7CYY2A0A1C7CYY2_HUMAN
Coiled-coil domain containing 7, is...
CCDC7 hCG_2039339
267Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A6YTA0A6YTA0_HUMAN
BioT2-C
CCDC7
175Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A6YT98A6YT98_HUMAN
BioT2-A
CCDC7
173Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A6YT99A6YT99_HUMAN
BioT2-B
CCDC7
171Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A6YYA4A0A0A6YYA4_HUMAN
Coiled-coil domain-containing prote...
CCDC7
647Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWZ1A0A1B0GWZ1_HUMAN
Coiled-coil domain-containing prote...
CCDC7
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LNG8A0A096LNG8_HUMAN
Coiled-coil domain-containing prote...
CCDC7
62Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1055R → Q in BAC05140 (PubMed:14702039).Curated1
Sequence conflicti1287T → A in BAC05140 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7173.1 [Q96M83-3]
CCDS86081.1 [Q96M83-1]

NCBI Reference Sequences

More...
RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.585464

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000277657; ENSP00000277657; ENSG00000216937 [Q96M83-3]
ENST00000362006; ENSP00000355078; ENSG00000216937 [Q96M83-3]
ENST00000476558; ENSP00000436435; ENSG00000216937 [Q96M83-2]
ENST00000639629; ENSP00000491655; ENSG00000216937 [Q96M83-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79741

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79741

UCSC genome browser

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UCSCi
uc001iwj.5 human [Q96M83-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]
CCDS86081.1 [Q96M83-1]
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

SMRiQ96M83
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122854, 4 interactors
IntActiQ96M83, 7 interactors

PTM databases

iPTMnetiQ96M83
PhosphoSitePlusiQ96M83

Polymorphism and mutation databases

BioMutaiCCDC7
DMDMi48428133

Proteomic databases

jPOSTiQ96M83
PaxDbiQ96M83
PeptideAtlasiQ96M83
PRIDEiQ96M83
ProteomicsDBi77306
77307 [Q96M83-2]
81280
81281
81282

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
221016
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79741
DisGeNETi79741
EuPathDBiHostDB:ENSG00000150076.22
HostDB:ENSG00000216937.11

GeneCards: human genes, protein and diseases

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GeneCardsi
CCDC7
HGNCiHGNC:26533 CCDC7
HPAiHPA075536
neXtProtiNX_Q96M83
OpenTargetsiENSG00000216937
PharmGKBiPA134879457

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410II8P Eukaryota
ENOG410J0QB Eukaryota
ENOG411157R LUCA
ENOG41117EC LUCA
GeneTreeiENSGT00390000009751
HOGENOMiHOG000230915
HOVERGENiHBG079994
InParanoidiQ96M83
OMAiWFQRQVN
OrthoDBi1514586at2759
TreeFamiTF337205
TF351892

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CCDC7 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
79741

Protein Ontology

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PROi
PR:Q96M83

Gene expression databases

BgeeiENSG00000216937 Expressed in 89 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ96M83 baseline and differential
GenevisibleiQ96M83 HS

Family and domain databases

InterProiView protein in InterPro
IPR029272 CCDC7
PANTHERiPTHR22035 PTHR22035, 1 hit
PfamiView protein in Pfam
PF15368 BioT2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCCDC7_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96M83
Secondary accession number(s): B0QZ71
, Q08AN7, Q5VW55, Q8IVQ0, Q8N7T7, Q8NEQ0, Q9H943
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 8, 2016
Last modified: February 13, 2019
This is version 121 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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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