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Entry version 103 (08 May 2019)
Sequence version 3 (03 Mar 2009)
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Protein

Cilia- and flagella-associated protein 69

Gene

CFAP69

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 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

Cilium- and flagellum-associated protein (PubMed:29606301). In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similarity). Required for sperm flagellum assembly and stability (PubMed:29606301).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>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

Biological processDifferentiation, Olfaction, Sensory transduction, Spermatogenesis

<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:
Cilia- and flagella-associated protein 69Imported
<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:CFAP69Imported
Synonyms:C7orf63Imported
<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 7

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:26107 CFAP69

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_A5D8W1

<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

Keywords - Cellular componenti

Cell projection, Cilium, Flagellum

<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

Spermatogenic failure 24 (SPGF24)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate.
See also OMIM:617959
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_081046255 – 941Missing in SPGF24. 1 PublicationAdd BLAST687

Organism-specific databases

DisGeNET

More...
DisGeNETi
79846

MalaCards human disease database

More...
MalaCardsi
CFAP69

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617959 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000105792

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

More...
Orphaneti
276234 Non-syndromic male infertility due to sperm motility disorder

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162380735

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFAP69

<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_00003205961 – 941Cilia- and flagella-associated protein 69CuratedAdd BLAST941

Proteomic databases

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

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PaxDbi
A5D8W1

PRoteomics IDEntifications database

More...
PRIDEi
A5D8W1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
714
715 [A5D8W1-2]
716 [A5D8W1-3]
717 [A5D8W1-4]
718 [A5D8W1-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
A5D8W1

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

More...
PhosphoSitePlusi
A5D8W1

<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

Highly expressed in the testis, specifically in sperm (at protein level) (PubMed:29606301). Expressed in the brain, kidney, liver, lung, and intestine (PubMed:29606301).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000105792 Expressed in 177 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
A5D8W1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
A5D8W1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA062883

<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)

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BioGridi
122937, 5 interactors

Protein interaction database and analysis system

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IntActi
A5D8W1, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000373948

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi21 – 25Poly-Ser5

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IEVQ Eukaryota
ENOG410XTAP LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000014274

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
A5D8W1

Identification of Orthologs from Complete Genome Data

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OMAi
GAPMIES

Database of Orthologous Groups

More...
OrthoDBi
640213at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
A5D8W1

TreeFam database of animal gene trees

More...
TreeFami
TF328355

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 2 hits

<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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: A5D8W1-1) [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
MWTEEAGATA EAQESGIRNK SSSSSQIPVV GVVTEDDEAQ DVFKPMDLNR
60 70 80 90 100
VIKLLEETDK DGLEEKQLKF VKKLVQCYQN GLPLRDLAQI FKILNLCSGK
110 120 130 140 150
IKNQPRFIES AYDIIKLCGL PFLKKKVSDE ITYAEDTANS IALLGDLMKI
160 170 180 190 200
PSSELRIQIC KCIVDFYHAE PPKKHIPGYQ QASSSYKIQM AEVGGLAKTM
210 220 230 240 250
VQSMTLLENQ LVEKLWVLKV LQHLSTSEVN CTIMMKAQAA SGICTHLNDP
260 270 280 290 300
DPSGQLLFRS SEILWNLLEK SSKEEVIQQL SNLECLLALK EVFKNLFMRG
310 320 330 340 350
FSHYDRQLRN DILVITTIIA QNPEAPMIEC GFTKDLILFA TFNEVKSQNL
360 370 380 390 400
LVKGLKLSNS YEDFELKKLL FNVIVILCKD LPTVQLLIDG KVILALFTYV
410 420 430 440 450
KKPEKQKIID WSAAQHEELQ LHAIATLSSV APLLIEEYMS CQGNARVLAF
460 470 480 490 500
LEWCESEDPF FSHGNSFHGT GGRGNKFAQM RYSLRLLRAV VYLEDETVNK
510 520 530 540 550
DLCEKGTIQQ MIGIFKNIIS KPNEKEEAIV LEIQSDILLI LSGLCENHIQ
560 570 580 590 600
RKEIFGTEGV DIVLHVMKTD PRKLQSGLGY NVLLFSTLDS IWCCILGCYP
610 620 630 640 650
SEDYFLEKEG IFLLLDLLAL NQKKFCNLIL GIMVEFCDNP KTAAHVNAWQ
660 670 680 690 700
GKKDQTAASL LIKLWRKEEK ELGVKRDKNG KIIDTKKPLF TSFQEEQKII
710 720 730 740 750
PLPANCPSIA VMDVSENIRA KIYAILGKLD FENLPGLSAE DFVTLCIIHR
760 770 780 790 800
YLDFKIGEIW NEIYEEIKLE KLRPVTTDKK ALEAITTASE NIGKMVASLQ
810 820 830 840 850
SDIIESQACQ DMQNEQKVYA KIQATHKQRE LANKSWEDFL ARTSNAKTLK
860 870 880 890 900
KAKSLQEKAI EASRYHKRPQ NAIFHQTHIK GLNTTVPSGG VVTVESTPAR
910 920 930 940
LVGGPLVDTD IALKKLPIRG GALQRVKAVK IVDAPKKSIP T
Length:941
Mass (Da):105,883
Last modified:March 3, 2009 - 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:iBE2C49835F217D1F
GO
Isoform 2 (identifier: A5D8W1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     685-730: Missing.

Note: Incomplete sequence.
Show »
Length:895
Mass (Da):100,769
Checksum:iE313CE137D8AF8A1
GO
Isoform 3 (identifier: A5D8W1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     228-229: EV → GL
     230-941: Missing.

Show »
Length:229
Mass (Da):25,619
Checksum:i51EF125283DDDB7B
GO
Isoform 4 (identifier: A5D8W1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     118-119: Missing.
     228-229: EV → GL
     230-941: Missing.

Note: No experimental confirmation available.
Show »
Length:227
Mass (Da):25,459
Checksum:iEA362CED622F6988
GO
Isoform 5 (identifier: A5D8W1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-178: Missing.

Show »
Length:923
Mass (Da):103,822
Checksum:i8BFACBBDC33197A3
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C002H7C002_HUMAN
Cilia- and flagella-associated prot...
CFAP69
515Annotation 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>
H7BZV2H7BZV2_HUMAN
Cilia- and flagella-associated prot...
CFAP69
478Annotation 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>
F8WBX7F8WBX7_HUMAN
Cilia- and flagella-associated prot...
CFAP69
119Annotation 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>
H7C076H7C076_HUMAN
Cilia- and flagella-associated prot...
CFAP69
89Annotation 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>
H7C468H7C468_HUMAN
Cilia- and flagella-associated prot...
CFAP69
170Annotation 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>
H7C3Z7H7C3Z7_HUMAN
Cilia- and flagella-associated prot...
CFAP69
93Annotation 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 BAB14972 differs from that shown. Reason: Erroneous initiation.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 conflicti101I → V in BAG64159 (PubMed:14702039).Curated1
Sequence conflicti125K → R in AAQ56720 (Ref. 1) Curated1
Sequence conflicti420Q → H in BAB14972 (PubMed:14702039).Curated1
Sequence conflicti854S → R in BAB14972 (PubMed:14702039).Curated1
Sequence conflicti854S → R in BAG63878 (PubMed:14702039).Curated1
Sequence conflicti854S → R in BAG64159 (PubMed:14702039).Curated1
Sequence conflicti854S → R in AAI32772 (PubMed:15489334).Curated1
Sequence conflicti854S → R in AAI41835 (PubMed:15489334).Curated1
Sequence conflicti854S → R in AAI42656 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03921922S → R. Corresponds to variant dbSNP:rs17862129Ensembl.1
Natural variantiVAR_081046255 – 941Missing in SPGF24. 1 PublicationAdd BLAST687
Natural variantiVAR_039220306R → C. Corresponds to variant dbSNP:rs17866223Ensembl.1
Natural variantiVAR_039221459P → L. Corresponds to variant dbSNP:rs17865959Ensembl.1
Natural variantiVAR_039222490V → M2 PublicationsCorresponds to variant dbSNP:rs1029365Ensembl.1
Natural variantiVAR_039223885T → M2 PublicationsCorresponds to variant dbSNP:rs1134956Ensembl.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_031673118 – 119Missing in isoform 4. 1 Publication2
Alternative sequenceiVSP_036548161 – 178Missing in isoform 5. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_031674228 – 229EV → GL in isoform 3 and isoform 4. 2 Publications2
Alternative sequenceiVSP_031675230 – 941Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST712
Alternative sequenceiVSP_031676685 – 730Missing in isoform 2. 1 PublicationAdd BLAST46

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
AY349356 mRNA Translation: AAQ56720.1
AK024715 mRNA Translation: BAB14972.1 Different initiation.
AK302636 mRNA Translation: BAG63878.1
AK303034 mRNA Translation: BAG64159.1
AC002064 Genomic DNA No translation available.
BC036351 mRNA Translation: AAH36351.1
BC132771 mRNA Translation: AAI32772.1
BC140742 mRNA Translation: AAI40743.1
BC141834 mRNA Translation: AAI41835.1
BC142655 mRNA Translation: AAI42656.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43613.2 [A5D8W1-1]
CCDS55122.1 [A5D8W1-5]

NCBI Reference Sequences

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RefSeqi
NP_001034795.2, NM_001039706.2 [A5D8W1-1]
NP_001153610.1, NM_001160138.1 [A5D8W1-5]
XP_016868116.1, XM_017012627.1 [A5D8W1-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000389297; ENSP00000373948; ENSG00000105792 [A5D8W1-1]
ENST00000451029; ENSP00000411234; ENSG00000105792 [A5D8W1-3]
ENST00000497910; ENSP00000419549; ENSG00000105792 [A5D8W1-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79846

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79846

UCSC genome browser

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UCSCi
uc010lep.3 human [A5D8W1-1]

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
AY349356 mRNA Translation: AAQ56720.1
AK024715 mRNA Translation: BAB14972.1 Different initiation.
AK302636 mRNA Translation: BAG63878.1
AK303034 mRNA Translation: BAG64159.1
AC002064 Genomic DNA No translation available.
BC036351 mRNA Translation: AAH36351.1
BC132771 mRNA Translation: AAI32772.1
BC140742 mRNA Translation: AAI40743.1
BC141834 mRNA Translation: AAI41835.1
BC142655 mRNA Translation: AAI42656.1
CCDSiCCDS43613.2 [A5D8W1-1]
CCDS55122.1 [A5D8W1-5]
RefSeqiNP_001034795.2, NM_001039706.2 [A5D8W1-1]
NP_001153610.1, NM_001160138.1 [A5D8W1-5]
XP_016868116.1, XM_017012627.1 [A5D8W1-2]

3D structure databases

Database of comparative protein structure models

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ModBasei
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi122937, 5 interactors
IntActiA5D8W1, 1 interactor
STRINGi9606.ENSP00000373948

PTM databases

iPTMnetiA5D8W1
PhosphoSitePlusiA5D8W1

Polymorphism and mutation databases

BioMutaiCFAP69

Proteomic databases

PaxDbiA5D8W1
PRIDEiA5D8W1
ProteomicsDBi714
715 [A5D8W1-2]
716 [A5D8W1-3]
717 [A5D8W1-4]
718 [A5D8W1-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389297; ENSP00000373948; ENSG00000105792 [A5D8W1-1]
ENST00000451029; ENSP00000411234; ENSG00000105792 [A5D8W1-3]
ENST00000497910; ENSP00000419549; ENSG00000105792 [A5D8W1-5]
GeneIDi79846
KEGGihsa:79846
UCSCiuc010lep.3 human [A5D8W1-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79846
DisGeNETi79846

GeneCards: human genes, protein and diseases

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GeneCardsi
CFAP69
HGNCiHGNC:26107 CFAP69
HPAiHPA062883
MalaCardsiCFAP69
MIMi617959 phenotype
neXtProtiNX_A5D8W1
OpenTargetsiENSG00000105792
Orphaneti276234 Non-syndromic male infertility due to sperm motility disorder
PharmGKBiPA162380735

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IEVQ Eukaryota
ENOG410XTAP LUCA
GeneTreeiENSGT00390000014274
InParanoidiA5D8W1
OMAiGAPMIES
OrthoDBi640213at2759
PhylomeDBiA5D8W1
TreeFamiTF328355

Miscellaneous databases

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

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ChiTaRSi
CFAP69 human

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

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GenomeRNAii
79846

Protein Ontology

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PROi
PR:A5D8W1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000105792 Expressed in 177 organ(s), highest expression level in right uterine tube
ExpressionAtlasiA5D8W1 baseline and differential
GenevisibleiA5D8W1 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
SUPFAMiSSF48371 SSF48371, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiCFA69_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: A5D8W1
Secondary accession number(s): A3KMP9
, B4DYW6, B4DZP7, B9EIM7, Q6V705, Q8IY89, Q9H7C2
<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: February 26, 2008
Last sequence update: March 3, 2009
Last modified: May 8, 2019
This is version 103 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 7
    Human chromosome 7: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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