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Entry version 106 (12 Aug 2020)
Sequence version 2 (15 Jun 2010)
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Protein

Cilia- and flagella-associated protein 221

Gene

CFAP221

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

Annotation score:4 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 protein 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 cilium morphogenesis.By similarity

<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 - Molecular functioni

GO - Biological processi

<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>Keywordsi

Molecular functionCalmodulin-binding
Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q4G0U5

<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%5Fand%5Ftaxonomy%5Fsection">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:
Cilia- and flagella-associated protein 221Imported
Alternative name(s):
Primary ciliary dyskinesia protein 11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CFAP221Imported
Synonyms:PCDP11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000163075.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:33720, CFAP221

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
618704, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q4G0U5

<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

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<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
200373

MalaCards human disease database

More...
MalaCardsi
CFAP221

Open Targets

More...
OpenTargetsi
ENSG00000163075

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

More...
Orphaneti
244, Primary ciliary dyskinesia

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q4G0U5, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFAP221

Domain mapping of disease mutations (DMDM)

More...
DMDMi
298286840

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003206141 – 840Cilia- and flagella-associated protein 221Add BLAST840

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q4G0U5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q4G0U5

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

More...
PaxDbi
Q4G0U5

PeptideAtlas

More...
PeptideAtlasi
Q4G0U5

PRoteomics IDEntifications database

More...
PRIDEi
Q4G0U5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
62129 [Q4G0U5-1]
62130 [Q4G0U5-2]
62131 [Q4G0U5-3]
62132 [Q4G0U5-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q4G0U5

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

More...
PhosphoSitePlusi
Q4G0U5

<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 ciliated respiratory epithelial cells and brain ependymal cells (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163075, Expressed in right uterine tube and 146 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q4G0U5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q4G0U5, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000163075, Tissue enhanced (fallopian tube, testis)

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with calmodulin; calcium-dependent.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000393222

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q4G0U5, protein

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni467 – 501Interaction with calmodulinBy similarityAdd BLAST35

<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 PCDP1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QT0T, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000006925

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_020964_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q4G0U5

Identification of Orthologs from Complete Genome Data

More...
OMAi
LINNTWV

Database of Orthologous Groups

More...
OrthoDBi
1411975at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q4G0U5

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029676, Gm101
IPR013783, Ig-like_fold

The PANTHER Classification System

More...
PANTHERi
PTHR46500, PTHR46500, 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%5Flength">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 4 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q4G0U5-1) [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
MAVVKTPSRG LKNAKEPFNN ASPHLLKNLV EEPKKRKEVP NHLLESKVYA
60 70 80 90 100
KLVNNKVIQA RPGIIHFGGY QVEKQHQQIL HLVNVSNEDT RVHILPPQTK
110 120 130 140 150
YFEINYVRKE HHLVPGLSLT VTVTFSPDEW RYYYDCIRVH CKGDDTLLVP
160 170 180 190 200
IHAYPVMNSL DFPSFINLSN VLLGESKTYV IPLQCSCPVD FEFYITLIQS
210 220 230 240 250
HQAFAIEPTS GIIPANGKMT VTIKFTPFQY GTAQIKMQLW ISQFNSQPYE
260 270 280 290 300
CVFTGTCYPN MALPLEEFER LNTLSKKVNV PPEKAMMHIN FHRPPAKPKP
310 320 330 340 350
QKVKEIEYQN LRFPVDLSNP FAVATVLNQE PGKLKIKELR EVLDQGTEIS
360 370 380 390 400
KTRQMKEALF EQKVRQDIHE EMENHLKWQV HLGKDPMSFK LKKELTEEWQ
410 420 430 440 450
KACAKYKLDR GDPILDEEFQ RLKTEVSHKR VVRNQEEKIK EFHPTFDPLI
460 470 480 490 500
NNTWLSRSRA QKRFQQVARK VMIQGRLFNM LSAVREMDKE SILRKIGQAK
510 520 530 540 550
QSIAQEANFF KFFLRRISQD DYTSRFSVSP KEVLPFAFPD CSPPQDSNEL
560 570 580 590 600
APDGLGLVPI KSSEVQIKQS YSFFNLQVPQ LYKIKRYQPF SVHKSSTSYR
610 620 630 640 650
PQKLARALKQ GAEDEVTTIT ALPKQDSTTQ LSGKTSVLSM KPPEALAMSL
660 670 680 690 700
DYDPLYVFNP NPGLFAVMHP LTYAETLIDY HLCSHPKYKF TKESRHGSSI
710 720 730 740 750
PVTQKQFLHH TDIIPGIMHW KSFQSLVLSS LPDPSKMETT KSCDSFNSFM
760 770 780 790 800
LPIDVPAILD ALPEEDRLET VERELCEQNV EVMLTPEMIK VEFPMLNYKD
810 820 830 840
IRKEKEVKDQ AQPAEKAGEK LLEEMRNLRG KALNTYLILE
Length:840
Mass (Da):96,891
Last modified:June 15, 2010 - 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:i7669C7FA1FFD22E5
GO
Isoform 2 (identifier: Q4G0U5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-286: Missing.

Show »
Length:554
Mass (Da):64,220
Checksum:i6C4AA6BDD17E4319
GO
Isoform 3 (identifier: Q4G0U5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-156: Missing.
     659-678: NPNPGLFAVMHPLTYAETLI → VSDNWQKPCFLCSFISAITL
     679-840: Missing.

Show »
Length:522
Mass (Da):60,203
Checksum:iBBFC1133F934F2B6
GO
Isoform 4 (identifier: Q4G0U5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     177-187: KTYVIPLQCSC → LPNSVFLVPDN
     188-840: Missing.

Show »
Length:187
Mass (Da):21,399
Checksum:iDF5F81CE1FE3B61B
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6RIU2X6RIU2_HUMAN
Cilia- and flagella-associated prot...
CFAP221
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>
M0QWZ6M0QWZ6_HUMAN
Cilia- and flagella-associated prot...
CFAP221
269Annotation 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>
M0QZN4M0QZN4_HUMAN
Cilia- and flagella-associated prot...
CFAP221
134Annotation 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>
M0QZV1M0QZV1_HUMAN
Cilia- and flagella-associated prot...
CFAP221
90Annotation 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>
H7C1D6H7C1D6_HUMAN
Cilia- and flagella-associated prot...
CFAP221
96Annotation 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>
H7C3Q0H7C3Q0_HUMAN
Cilia- and flagella-associated prot...
CFAP221
399Annotation 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>
M0QZ41M0QZ41_HUMAN
Cilia- and flagella-associated prot...
CFAP221
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>
M0R095M0R095_HUMAN
Cilia- and flagella-associated prot...
CFAP221
118Annotation 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>
M0R1M9M0R1M9_HUMAN
Cilia- and flagella-associated prot...
CFAP221
88Annotation 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>
M0R1R6M0R1R6_HUMAN
Cilia- and flagella-associated prot...
CFAP221
46Annotation 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>
There is more potential isoformShow all

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 conflicti367D → G in BAG57111 (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_039232637V → I2 PublicationsCorresponds to variant dbSNP:rs2272058Ensembl.1
Natural variantiVAR_039233795M → I. Corresponds to variant dbSNP:rs11686014Ensembl.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_0393161 – 286Missing in isoform 2. 1 PublicationAdd BLAST286
Alternative sequenceiVSP_0393171 – 156Missing in isoform 3. 1 PublicationAdd BLAST156
Alternative sequenceiVSP_039319177 – 187KTYVIPLQCSC → LPNSVFLVPDN in isoform 4. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_039318188 – 840Missing in isoform 4. 1 PublicationAdd BLAST653
Alternative sequenceiVSP_039320659 – 678NPNPG…AETLI → VSDNWQKPCFLCSFISAITL in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_039321679 – 840Missing in isoform 3. 1 PublicationAdd BLAST162

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK293665 mRNA Translation: BAG57111.1
AK304416 mRNA Translation: BAG65247.1
AC013275 Genomic DNA No translation available.
AC069154 Genomic DNA No translation available.
AC104817 Genomic DNA No translation available.
BC036530 mRNA Translation: AAH36530.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33282.2 [Q4G0U5-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001257978.1, NM_001271049.1 [Q4G0U5-1]
XP_006712416.1, XM_006712353.3 [Q4G0U5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000413369; ENSP00000393222; ENSG00000163075 [Q4G0U5-1]
ENST00000598644; ENSP00000472563; ENSG00000163075 [Q4G0U5-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
200373

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:200373

UCSC genome browser

More...
UCSCi
uc031rou.2, human [Q4G0U5-1]

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
AK293665 mRNA Translation: BAG57111.1
AK304416 mRNA Translation: BAG65247.1
AC013275 Genomic DNA No translation available.
AC069154 Genomic DNA No translation available.
AC104817 Genomic DNA No translation available.
BC036530 mRNA Translation: AAH36530.1
CCDSiCCDS33282.2 [Q4G0U5-1]
RefSeqiNP_001257978.1, NM_001271049.1 [Q4G0U5-1]
XP_006712416.1, XM_006712353.3 [Q4G0U5-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

STRINGi9606.ENSP00000393222

PTM databases

iPTMnetiQ4G0U5
PhosphoSitePlusiQ4G0U5

Polymorphism and mutation databases

BioMutaiCFAP221
DMDMi298286840

Proteomic databases

jPOSTiQ4G0U5
MassIVEiQ4G0U5
PaxDbiQ4G0U5
PeptideAtlasiQ4G0U5
PRIDEiQ4G0U5
ProteomicsDBi62129 [Q4G0U5-1]
62130 [Q4G0U5-2]
62131 [Q4G0U5-3]
62132 [Q4G0U5-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
48000, 53 antibodies

Genome annotation databases

EnsembliENST00000413369; ENSP00000393222; ENSG00000163075 [Q4G0U5-1]
ENST00000598644; ENSP00000472563; ENSG00000163075 [Q4G0U5-4]
GeneIDi200373
KEGGihsa:200373
UCSCiuc031rou.2, human [Q4G0U5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
200373
DisGeNETi200373
EuPathDBiHostDB:ENSG00000163075.12

GeneCards: human genes, protein and diseases

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GeneCardsi
CFAP221
HGNCiHGNC:33720, CFAP221
HPAiENSG00000163075, Tissue enhanced (fallopian tube, testis)
MalaCardsiCFAP221
MIMi618704, gene
neXtProtiNX_Q4G0U5
OpenTargetsiENSG00000163075
Orphaneti244, Primary ciliary dyskinesia

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QT0T, Eukaryota
GeneTreeiENSGT00390000006925
HOGENOMiCLU_020964_0_0_1
InParanoidiQ4G0U5
OMAiLINNTWV
OrthoDBi1411975at2759
PhylomeDBiQ4G0U5

Enzyme and pathway databases

PathwayCommonsiQ4G0U5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
200373, 5 hits in 836 CRISPR screens

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

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ChiTaRSi
CFAP221, human

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

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GenomeRNAii
200373
PharosiQ4G0U5, Tdark

Protein Ontology

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PROi
PR:Q4G0U5
RNActiQ4G0U5, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163075, Expressed in right uterine tube and 146 other tissues
ExpressionAtlasiQ4G0U5, baseline and differential
GenevisibleiQ4G0U5, HS

Family and domain databases

Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR029676, Gm101
IPR013783, Ig-like_fold
PANTHERiPTHR46500, PTHR46500, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiPCDP1_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: Q4G0U5
Secondary accession number(s): B4DEK0, B4E2T5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: June 15, 2010
Last modified: August 12, 2020
This is version 106 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

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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