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Entry version 126 (31 Jul 2019)
Sequence version 2 (02 Oct 2007)
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Protein

Coiled-coil domain-containing protein 40

Gene

CCDC40

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 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

Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<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 40Curated
<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:CCDC40Imported
Synonyms:KIAA16401 Publication
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26090 CCDC40

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613799 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q4G0X9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<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 - Cellular componenti

Cell projection, Cilium, Cytoplasm

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ciliary dyskinesia, primary, 15 (CILD15)5 Publications
The disease is caused by mutations affecting the gene represented in this entry. The disease is characterized by primary ciliary dyskinesia with inner dynein arm (IDA) defects and axonemal dizorganisation: defects in CCDC39 and CCDC40 constitute the major cause of this phenotype.2 Publications
Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Related information in OMIM

Keywords - Diseasei

Ciliopathy, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNET

More...
DisGeNETi
55036

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
CCDC40

MalaCards human disease database

More...
MalaCardsi
CCDC40
MIMi613808 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000141519

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
244 Primary ciliary dyskinesia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672195

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CCDC40

Domain mapping of disease mutations (DMDM)

More...
DMDMi
158706471

<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_00003052501 – 1142Coiled-coil domain-containing protein 40Add BLAST1142

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei252PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q4G0X9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q4G0X9

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

More...
PaxDbi
Q4G0X9

PeptideAtlas

More...
PeptideAtlasi
Q4G0X9

PRoteomics IDEntifications database

More...
PRIDEi
Q4G0X9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
62140 [Q4G0X9-1]
62141 [Q4G0X9-2]
62142 [Q4G0X9-3]
62143 [Q4G0X9-4]
62144 [Q4G0X9-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q4G0X9

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

More...
PhosphoSitePlusi
Q4G0X9

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000141519 Expressed in 134 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q4G0X9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q4G0X9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA022974

<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
120365, 28 interactors

Protein interaction database and analysis system

More...
IntActi
Q4G0X9, 8 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000380679

<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

More...
SMRi
Q4G0X9

Database of comparative protein structure models

More...
ModBasei
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 coili293 – 319Sequence analysisAdd BLAST27
Coiled coili349 – 470Sequence analysisAdd BLAST122
Coiled coili526 – 627Sequence analysisAdd BLAST102
Coiled coili684 – 950Sequence analysisAdd BLAST267
Coiled coili1005 – 1054Sequence analysisAdd BLAST50

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CCDC40 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IEY4 Eukaryota
ENOG410XTIY LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00440000035688

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q4G0X9

Identification of Orthologs from Complete Genome Data

More...
OMAi
FHHKQLE

Database of Orthologous Groups

More...
OrthoDBi
323186at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q4G0X9

TreeFam database of animal gene trees

More...
TreeFami
TF325559

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR037386 CCDC40

The PANTHER Classification System

More...
PANTHERi
PTHR16275 PTHR16275, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q4G0X9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST
60 70 80 90 100
EHPEEVTTQA EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET
110 120 130 140 150
SSPEGQISAA DTTYPYFSPP QELPGEEAYD SVSGEAGLQG FQQEATGPPE
160 170 180 190 200
SRERRVTSPE PSHGVLGPSE QMGQVTSGPA VGRLTGSTEE PQGQVLPMGV
210 220 230 240 250
QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD LPVFQDQIQQ
260 270 280 290 300
PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN
310 320 330 340 350
RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD
360 370 380 390 400
RHAMASSERR QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH
410 420 430 440 450
LFYMQNIDQD MRDDIRVMTQ VVKKAETERI RAEIEKKKQD LYVDQLTTRA
460 470 480 490 500
QQLEEDIALF EAQYLAQAED TRILRKAVSE ACTEIDAISV EKRRIMQQWA
510 520 530 540 550
SSLVGMKHRD EAHRAVLEAL RGCQHQAKST DGEIEAYKKS IMKEEEKNEK
560 570 580 590 600
LASILNRTET EATLLQKLTT QCLTKQVALQ SQFNTYRLTL QDTEDALSQD
610 620 630 640 650
QLEQMILTEE LQAIRQAIQG ELELRRKTDA AIREKLQEHM TSNKTTKYFN
660 670 680 690 700
QLILRLQKEK TNMMTHLSKI NGDIAQTTLD ITHTSSRLDA HQKTLVELDQ
710 720 730 740 750
DVKKVNELIT NSQSEISRRT ILIERKQGLI NFLNKQLERM VSELGGEEVG
760 770 780 790 800
PLELEIKRLS KLIDEHDGKA VQAQVTWLRL QQEMVKVTQE QEEQLASLDA
810 820 830 840 850
SKKELHIMEQ KKLRVESKIE QEKKEQKEIE HHMKDLDNDL KKLNMLMNKN
860 870 880 890 900
RCSSEELEQN NRVTENEFVR SLKASERETI KMQDKLNQLS EEKATLLNQL
910 920 930 940 950
VEAEHQIMLW EKKIQLAKEM RSSVDSEIGQ TEIRAMKGEI HRMKVRLGQL
960 970 980 990 1000
LKQQEKMIRA MELAVARRET VTTQAEGQRK MDRKALTRTD FHHKQLELRR
1010 1020 1030 1040 1050
KIRDVRKATD ECTKTVLELE ETQRNVSSSL LEKQEKLSVI QADFDTLEAD
1060 1070 1080 1090 1100
LTRLGALKRQ NLSEIVALQT RLKHLQAVKE GRYVFLFRSK QSLVLERQRL
1110 1120 1130 1140
DKRLALIATI LDRVRDEYPQ FQEALHKVSQ MIANKLESPG PS
Length:1,142
Mass (Da):130,113
Last modified:October 2, 2007 - v2
<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:iB18A5808B0BEC212
GO
Isoform 2 (identifier: Q4G0X9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     945-1030: VRLGQLLKQQ...ETQRNVSSSL → KYCRTTQDAH...HEHRTHTARA
     1031-1142: Missing.

Show »
Length:1,030
Mass (Da):116,800
Checksum:iA7BC295FB62A3B31
GO
Isoform 3 (identifier: Q4G0X9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-217: Missing.
     218-225: EEFVSQEP → MVSLSLPP

Show »
Length:925
Mass (Da):107,153
Checksum:iA54BBA3F9B469BDB
GO
Isoform 4 (identifier: Q4G0X9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     521-579: RGCQHQAKST...TQCLTKQVAL → SVSLERFPSQ...AAVDNRIREC
     580-1142: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:579
Mass (Da):64,007
Checksum:i0F0FD772989FB7C8
GO
Isoform 5 (identifier: Q4G0X9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     440-478: DLYVDQLTTR...EDTRILRKAV → GVGDTGAAFI...VVARVSPAEL
     479-1142: Missing.

Note: No experimental confirmation available.
Show »
Length:478
Mass (Da):52,263
Checksum:i194B85FFFF78D73C
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L2X6I3L2X6_HUMAN
Coiled-coil domain-containing prote...
CCDC40
126Annotation 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>
I3L292I3L292_HUMAN
Coiled-coil domain-containing prote...
CCDC40
99Annotation 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>
I3L477I3L477_HUMAN
Coiled-coil domain-containing prote...
CCDC40
83Annotation 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>
I3L3G6I3L3G6_HUMAN
Coiled-coil domain-containing prote...
CCDC40
85Annotation 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 BAB13466 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti117F → L in BAA91365 (PubMed:14702039).Curated1
Sequence conflicti362K → R in AAH35251 (PubMed:15489334).Curated1
Sequence conflicti405Q → R in BAA91365 (PubMed:14702039).Curated1
Sequence conflicti405Q → R in AAH35251 (PubMed:15489334).Curated1
Sequence conflicti553S → G in AAH35251 (PubMed:15489334).Curated1
Sequence conflicti816E → G in AAH35251 (PubMed:15489334).Curated1
Isoform 3 (identifier: Q4G0X9-3)
Sequence conflicti8P → A in BAB13466 (PubMed:10997877).Curated1
Isoform 4 (identifier: Q4G0X9-4)
Sequence conflicti570A → T in BAA91365 (PubMed:14702039).Curated1
Isoform 2 (identifier: Q4G0X9-2)
Sequence conflicti951Q → R in AAH35251 (PubMed:15489334).Curated1
Sequence conflicti954H → R in AAH35251 (PubMed:15489334).Curated1
Sequence conflicti964H → R in AAH35251 (PubMed:15489334).Curated1
Sequence conflicti970K → N in AAH35251 (PubMed:15489334).Curated1
Sequence conflicti987G → R in AAH35251 (PubMed:15489334).Curated1
Sequence conflicti1013T → TT in AAH35251 (PubMed:15489334).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_0351938A → P. Corresponds to variant dbSNP:rs2289530Ensembl.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_0283021 – 217Missing in isoform 3. 1 PublicationAdd BLAST217
Alternative sequenceiVSP_028303218 – 225EEFVSQEP → MVSLSLPP in isoform 3. 1 Publication8
Alternative sequenceiVSP_028304440 – 478DLYVD…LRKAV → GVGDTGAAFIPKTTQGDQVS GRGKKKPGTVVARVSPAEL in isoform 5. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_028305479 – 1142Missing in isoform 5. 1 PublicationAdd BLAST664
Alternative sequenceiVSP_028306521 – 579RGCQH…KQVAL → SVSLERFPSQNINTARSRLS TTWHSAGILLRGSFLPGASR AFASVCYGGAAVDNRIREC in isoform 4. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_028307580 – 1142Missing in isoform 4. 1 PublicationAdd BLAST563
Alternative sequenceiVSP_028308945 – 1030VRLGQ…VSSSL → KYCRTTQDAHRHVHEQHGTH AGTCTKNTGRAQARARTTRD ARGHVHEQHGTRAGTCTNNT GRAQARARTRDARRHVHEHR THTARA in isoform 2. 1 PublicationAdd BLAST86
Alternative sequenceiVSP_0283091031 – 1142Missing in isoform 2. 1 PublicationAdd BLAST112

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

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DDBJi
Links Updated
AB046860 mRNA Translation: BAB13466.1 Different initiation.
AK000760 mRNA Translation: BAA91365.1
AC087741 Genomic DNA No translation available.
AC116025 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89578.1
CH471099 Genomic DNA Translation: EAW89579.1
BC035251 mRNA Translation: AAH35251.1
BC058288 mRNA Translation: AAH58288.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS42395.1 [Q4G0X9-1]
CCDS58604.1 [Q4G0X9-2]
CCDS82212.1 [Q4G0X9-4]

NCBI Reference Sequences

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RefSeqi
NP_001230271.1, NM_001243342.1 [Q4G0X9-2]
NP_001317437.1, NM_001330508.1 [Q4G0X9-4]
NP_060420.2, NM_017950.3 [Q4G0X9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000269318; ENSP00000269318; ENSG00000141519 [Q4G0X9-4]
ENST00000374876; ENSP00000364010; ENSG00000141519 [Q4G0X9-5]
ENST00000374877; ENSP00000364011; ENSG00000141519 [Q4G0X9-2]
ENST00000397545; ENSP00000380679; ENSG00000141519 [Q4G0X9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55036

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55036

UCSC genome browser

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UCSCi
uc010dht.4 human [Q4G0X9-1]
uc021uem.2 human

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Protein Spotlight

The length of things - Issue 170 of June 2015

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB046860 mRNA Translation: BAB13466.1 Different initiation.
AK000760 mRNA Translation: BAA91365.1
AC087741 Genomic DNA No translation available.
AC116025 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89578.1
CH471099 Genomic DNA Translation: EAW89579.1
BC035251 mRNA Translation: AAH35251.1
BC058288 mRNA Translation: AAH58288.1
CCDSiCCDS42395.1 [Q4G0X9-1]
CCDS58604.1 [Q4G0X9-2]
CCDS82212.1 [Q4G0X9-4]
RefSeqiNP_001230271.1, NM_001243342.1 [Q4G0X9-2]
NP_001317437.1, NM_001330508.1 [Q4G0X9-4]
NP_060420.2, NM_017950.3 [Q4G0X9-1]

3D structure databases

SMRiQ4G0X9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120365, 28 interactors
IntActiQ4G0X9, 8 interactors
STRINGi9606.ENSP00000380679

PTM databases

iPTMnetiQ4G0X9
PhosphoSitePlusiQ4G0X9

Polymorphism and mutation databases

BioMutaiCCDC40
DMDMi158706471

Proteomic databases

jPOSTiQ4G0X9
MaxQBiQ4G0X9
PaxDbiQ4G0X9
PeptideAtlasiQ4G0X9
PRIDEiQ4G0X9
ProteomicsDBi62140 [Q4G0X9-1]
62141 [Q4G0X9-2]
62142 [Q4G0X9-3]
62143 [Q4G0X9-4]
62144 [Q4G0X9-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269318; ENSP00000269318; ENSG00000141519 [Q4G0X9-4]
ENST00000374876; ENSP00000364010; ENSG00000141519 [Q4G0X9-5]
ENST00000374877; ENSP00000364011; ENSG00000141519 [Q4G0X9-2]
ENST00000397545; ENSP00000380679; ENSG00000141519 [Q4G0X9-1]
GeneIDi55036
KEGGihsa:55036
UCSCiuc010dht.4 human [Q4G0X9-1]
uc021uem.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55036
DisGeNETi55036

GeneCards: human genes, protein and diseases

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GeneCardsi
CCDC40
GeneReviewsiCCDC40
HGNCiHGNC:26090 CCDC40
HPAiHPA022974
MalaCardsiCCDC40
MIMi613799 gene
613808 phenotype
neXtProtiNX_Q4G0X9
OpenTargetsiENSG00000141519
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA142672195

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IEY4 Eukaryota
ENOG410XTIY LUCA
GeneTreeiENSGT00440000035688
InParanoidiQ4G0X9
OMAiFHHKQLE
OrthoDBi323186at2759
PhylomeDBiQ4G0X9
TreeFamiTF325559

Miscellaneous databases

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

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ChiTaRSi
CCDC40 human

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

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GenomeRNAii
55036

Protein Ontology

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PROi
PR:Q4G0X9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000141519 Expressed in 134 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ4G0X9 baseline and differential
GenevisibleiQ4G0X9 HS

Family and domain databases

InterProiView protein in InterPro
IPR037386 CCDC40
PANTHERiPTHR16275 PTHR16275, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiCCD40_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: Q4G0X9
Secondary accession number(s): A8MTD2
, C9JTI9, C9JTJ0, C9JXW1, J3QSY2, Q6PE47, Q9HCD2, Q9NWL5
<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: October 2, 2007
Last sequence update: October 2, 2007
Last modified: July 31, 2019
This is version 126 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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