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Entry version 129 (02 Dec 2020)
Sequence version 2 (29 May 2007)
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Protein

Cilia- and flagella-associated protein 65

Gene

CFAP65

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

Plays a role in flagellar formation and sperm motility.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

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6ZU64

<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 65Curated
Alternative name(s):
Coiled-coil domain-containing protein 108Imported
<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:CFAP65Imported
Synonyms:CCDC108Imported
<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 and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000181378.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25325, CFAP65

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614270, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZU64

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei188 – 208HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoplasmic vesicle, Flagellum, Membrane

<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 40 (SPGF40)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head.
Related information in OMIM
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_083169762 – 1925Missing in SPGF40. 1 PublicationAdd BLAST1164
Natural variantiVAR_083170892 – 1925Missing in SPGF40. 1 PublicationAdd BLAST1034
Natural variantiVAR_0831711007N → K in SPGF40; unknown pathological significance. 1 Publication1
Natural variantiVAR_0831721016L → R in SPGF40; unknown pathological significance. 1 Publication1
Natural variantiVAR_0831731619 – 1925Missing in SPGF40. 1 PublicationAdd BLAST307
Natural variantiVAR_0831741757 – 1925Missing in SPGF40. 1 PublicationAdd BLAST169
Natural variantiVAR_0809031781 – 1925Missing in SPGF40. 3 PublicationsAdd BLAST145

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
255101

MalaCards human disease database

More...
MalaCardsi
CFAP65
MIMi618664, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000181378

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
PA145008681

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6ZU64, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFAP65

Domain mapping of disease mutations (DMDM)

More...
DMDMi
148841209

<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_00002888051 – 1925Cilia- and flagella-associated protein 65Add BLAST1925

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6ZU64

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6ZU64

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

More...
PaxDbi
Q6ZU64

PeptideAtlas

More...
PeptideAtlasi
Q6ZU64

PRoteomics IDEntifications database

More...
PRIDEi
Q6ZU64

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
19496
20228
20258
68312 [Q6ZU64-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ZU64

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

More...
PhosphoSitePlusi
Q6ZU64

<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
ENSG00000181378, Expressed in right uterine tube and 99 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6ZU64, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6ZU64, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000181378, Tissue enhanced (brain, 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 binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
129075, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q6ZU64, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000340776

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6ZU64, 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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini877 – 986MSPPROSITE-ProRule annotationAdd BLAST110

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 coili1525 – 1550Sequence analysisAdd BLAST26

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 biasi1761 – 1848Glu-richAdd BLAST88

<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 CFAP65 family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QSJW, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00430000031142

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000944_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6ZU64

Identification of Orthologs from Complete Genome Data

More...
OMAi
TICLTAC

Database of Orthologous Groups

More...
OrthoDBi
1127899at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6ZU64

TreeFam database of animal gene trees

More...
TreeFami
TF329056

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 7 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013783, Ig-like_fold
IPR000535, MSP_dom

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50202, MSP, 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZU64-1) [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
MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI
60 70 80 90 100
KLHTQSAPFG LCPKDMMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI
110 120 130 140 150
PAINDSSAAM SACSTISAQP ASSMDTQMHS PKKQERVNKR VIWGIEVAEE
160 170 180 190 200
LHWKGWELGK ETTRNLVLKN RSLKLQKMKY RPPKTKFFFT VIPQPIFLSP
210 220 230 240 250
GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP CHRLICRPPS
260 270 280 290 300
LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
310 320 330 340 350
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH
360 370 380 390 400
KCPEDQDAEG FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE
410 420 430 440 450
LAEDQAFSCP TAHGIVLPGE KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS
460 470 480 490 500
KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG ERSEQPLWIE NQSDCTAHFQ
510 520 530 540 550
FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF RRVACLIHHQ
560 570 580 590 600
DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
610 620 630 640 650
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP
660 670 680 690 700
ISVEPVEVDF GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP
710 720 730 740 750
ESCDVPPLKS MAMRLHFQPP HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT
760 770 780 790 800
MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD VPKLFPAVSS GEPTYRSLLL
810 820 830 840 850
VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC TYPEGSSWKQ
860 870 880 890 900
HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
910 920 930 940 950
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE
960 970 980 990 1000
ETKYLFQVGM WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA
1010 1020 1030 1040 1050
FGNVLVNSKQ SRFLVLLNDG NCTLYYRLYL EQGSPEAVDN HPLALQLDRT
1060 1070 1080 1090 1100
EGSMPPRSQD TICLTACPKQ RSQYSWTITY SLLSHRDNKA GEKQELCCVS
1110 1120 1130 1140 1150
LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL ERDPTPCELT
1160 1170 1180 1190 1200
YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
1210 1220 1230 1240 1250
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG
1260 1270 1280 1290 1300
QEQMVELKYS HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT
1310 1320 1330 1340 1350
STTHQFIPIP IGDTLPPRQI YELYNGGSVP VTYEVQTDVL SQVQEKNFDH
1360 1370 1380 1390 1400
PIFCCLNPKG EIQPGSTARV LWIFSPIEAK TYTVDVPIHI LGWNSALIHF
1410 1420 1430 1440 1450
QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL SQSHISLGNI
1460 1470 1480 1490 1500
PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
1510 1520 1530 1540 1550
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF
1560 1570 1580 1590 1600
TITDMKVKKR TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS
1610 1620 1630 1640 1650
WPCPQPPSPG MLCLGLTARA HATDYFLANF FSEFPCHFLH RELPKRKAPR
1660 1670 1680 1690 1700
EESETSEEKS PNKWGPVSKQ KKQLLVDILT TIIRGLLEDK NFHEAVDQSL
1710 1720 1730 1740 1750
VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED GKGKQPKEDR
1760 1770 1780 1790 1800
PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
1810 1820 1830 1840 1850
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI
1860 1870 1880 1890 1900
RRLPAFANLQ EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL
1910 1920
TPDTLLPTQQ AEVLHPVVPL PTDLP
Length:1,925
Mass (Da):217,250
Last modified:May 29, 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:i000CFE2B83394B42
GO
Isoform 2 (identifier: Q6ZU64-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: Missing.
     182-229: PPKTKFFFTV...DQLWFEKAEG → YQYKGSRTQC...SECLKYVQYE
     230-1925: Missing.

Show »
Length:164
Mass (Da):18,571
Checksum:iE61DB5602ADD73C2
GO
Isoform 3 (identifier: Q6ZU64-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: Missing.
     739-795: LQSYSNIEED...PAVSSGEPTY → CARNEREECG...MSLSPPKLLA
     796-1925: Missing.

Show »
Length:730
Mass (Da):81,378
Checksum:iF42999BD58A1ACC8
GO
Isoform 4 (identifier: Q6ZU64-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MFTLTGCRLVEKTQKVENPSVSFASSFPLIPLLL → METAIWRRSYISLISSERPVHNW
     739-795: LQSYSNIEED...PAVSSGEPTY → CARNEREECG...MSLSPPKLLA
     796-1925: Missing.

Show »
Length:784
Mass (Da):87,601
Checksum:i15CFF1980112F460
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JVA0C9JVA0_HUMAN
Cilia- and flagella-associated prot...
CFAP65
234Annotation 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>
Q49A14Q49A14_HUMAN
CCDC108 protein
CFAP65 CCDC108
271Annotation 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>
C9JIV0C9JIV0_HUMAN
Cilia- and flagella-associated prot...
CFAP65
117Annotation 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>
C9JLP9C9JLP9_HUMAN
Cilia- and flagella-associated prot...
CFAP65
114Annotation 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>
H7C0B4H7C0B4_HUMAN
Cilia- and flagella-associated prot...
CFAP65
127Annotation 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 BAC86362 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC86878 differs from that shown. Unlikely isoform. Aberrant splice sites.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 conflicti129H → R in BAC86878 (PubMed:14702039).Curated1
Sequence conflicti320T → A in BAC86878 (PubMed:14702039).Curated1
Sequence conflicti665G → W in BAC86878 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03250066M → L2 PublicationsCorresponds to variant dbSNP:rs6736922Ensembl.1
Natural variantiVAR_083656639D → E1 Publication1
Natural variantiVAR_050726672V → I. Corresponds to variant dbSNP:rs13403802Ensembl.1
Natural variantiVAR_083169762 – 1925Missing in SPGF40. 1 PublicationAdd BLAST1164
Natural variantiVAR_050727806K → M. Corresponds to variant dbSNP:rs9653262Ensembl.1
Natural variantiVAR_083170892 – 1925Missing in SPGF40. 1 PublicationAdd BLAST1034
Natural variantiVAR_0831711007N → K in SPGF40; unknown pathological significance. 1 Publication1
Natural variantiVAR_0831721016L → R in SPGF40; unknown pathological significance. 1 Publication1
Natural variantiVAR_0836571240I → F1 Publication1
Natural variantiVAR_0831731619 – 1925Missing in SPGF40. 1 PublicationAdd BLAST307
Natural variantiVAR_0831741757 – 1925Missing in SPGF40. 1 PublicationAdd BLAST169
Natural variantiVAR_0809031781 – 1925Missing in SPGF40. 3 PublicationsAdd BLAST145
Natural variantiVAR_0507281858N → S. Corresponds to variant dbSNP:rs11893183Ensembl.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_0452211 – 65Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_0556311 – 34MFTLT…IPLLL → METAIWRRSYISLISSERPV HNW in isoform 4. CuratedAdd BLAST34
Alternative sequenceiVSP_045222182 – 229PPKTK…EKAEG → YQYKGSRTQCHSLEPRKQAL FKTKQNKQKKPLTCHIKASE CLKYVQYE in isoform 2. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_045223230 – 1925Missing in isoform 2. 1 PublicationAdd BLAST1696
Alternative sequenceiVSP_055632739 – 795LQSYS…GEPTY → CARNEREECGVSARSLSGLV GWQEVTEGSFRLHPLRARLS LGWTVTPMSLSPPKLLA in isoform 3 and isoform 4. CuratedAdd BLAST57
Alternative sequenceiVSP_055633796 – 1925Missing in isoform 3 and isoform 4. CuratedAdd BLAST1130

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
AK125957 mRNA Translation: BAC86362.1 Different initiation.
AK127189 mRNA Translation: BAC86878.1 Sequence problems.
AC097468 Genomic DNA No translation available.
BC031585 mRNA Translation: AAH31585.1
BC130281 mRNA Translation: AAI30282.1
AL833882 mRNA Translation: CAD38738.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2430.2 [Q6ZU64-1]
CCDS2431.2 [Q6ZU64-3]
CCDS63125.1 [Q6ZU64-4]
CCDS63126.1 [Q6ZU64-5]

NCBI Reference Sequences

More...
RefSeqi
NP_689602.2, NM_152389.3 [Q6ZU64-3]
NP_919278.2, NM_194302.3 [Q6ZU64-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000295729; ENSP00000295729; ENSG00000181378 [Q6ZU64-3]
ENST00000341552; ENSP00000340776; ENSG00000181378 [Q6ZU64-1]
ENST00000409865; ENSP00000386945; ENSG00000181378 [Q6ZU64-5]
ENST00000410037; ENSP00000386258; ENSG00000181378 [Q6ZU64-4]
ENST00000453220; ENSP00000409117; ENSG00000181378 [Q6ZU64-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
255101

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:255101

UCSC genome browser

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UCSCi
uc002vjl.3, human [Q6ZU64-1]

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
AK125957 mRNA Translation: BAC86362.1 Different initiation.
AK127189 mRNA Translation: BAC86878.1 Sequence problems.
AC097468 Genomic DNA No translation available.
BC031585 mRNA Translation: AAH31585.1
BC130281 mRNA Translation: AAI30282.1
AL833882 mRNA Translation: CAD38738.1
CCDSiCCDS2430.2 [Q6ZU64-1]
CCDS2431.2 [Q6ZU64-3]
CCDS63125.1 [Q6ZU64-4]
CCDS63126.1 [Q6ZU64-5]
RefSeqiNP_689602.2, NM_152389.3 [Q6ZU64-3]
NP_919278.2, NM_194302.3 [Q6ZU64-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi129075, 2 interactors
IntActiQ6ZU64, 3 interactors
STRINGi9606.ENSP00000340776

PTM databases

iPTMnetiQ6ZU64
PhosphoSitePlusiQ6ZU64

Polymorphism and mutation databases

BioMutaiCFAP65
DMDMi148841209

Proteomic databases

EPDiQ6ZU64
MassIVEiQ6ZU64
PaxDbiQ6ZU64
PeptideAtlasiQ6ZU64
PRIDEiQ6ZU64
ProteomicsDBi19496
20228
20258
68312 [Q6ZU64-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
34298, 37 antibodies

The DNASU plasmid repository

More...
DNASUi
255101

Genome annotation databases

EnsembliENST00000295729; ENSP00000295729; ENSG00000181378 [Q6ZU64-3]
ENST00000341552; ENSP00000340776; ENSG00000181378 [Q6ZU64-1]
ENST00000409865; ENSP00000386945; ENSG00000181378 [Q6ZU64-5]
ENST00000410037; ENSP00000386258; ENSG00000181378 [Q6ZU64-4]
ENST00000453220; ENSP00000409117; ENSG00000181378 [Q6ZU64-1]
GeneIDi255101
KEGGihsa:255101
UCSCiuc002vjl.3, human [Q6ZU64-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
255101
DisGeNETi255101
EuPathDBiHostDB:ENSG00000181378.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CFAP65
HGNCiHGNC:25325, CFAP65
HPAiENSG00000181378, Tissue enhanced (brain, fallopian tube, testis)
MalaCardsiCFAP65
MIMi614270, gene
618664, phenotype
neXtProtiNX_Q6ZU64
OpenTargetsiENSG00000181378
Orphaneti276234, Non-syndromic male infertility due to sperm motility disorder
PharmGKBiPA145008681

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QSJW, Eukaryota
GeneTreeiENSGT00430000031142
HOGENOMiCLU_000944_1_0_1
InParanoidiQ6ZU64
OMAiTICLTAC
OrthoDBi1127899at2759
PhylomeDBiQ6ZU64
TreeFamiTF329056

Enzyme and pathway databases

PathwayCommonsiQ6ZU64

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
255101, 2 hits in 848 CRISPR screens

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

More...
ChiTaRSi
CFAP65, human

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

More...
GenomeRNAii
255101
PharosiQ6ZU64, Tdark

Protein Ontology

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PROi
PR:Q6ZU64
RNActiQ6ZU64, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000181378, Expressed in right uterine tube and 99 other tissues
ExpressionAtlasiQ6ZU64, baseline and differential
GenevisibleiQ6ZU64, HS

Family and domain databases

Gene3Di2.60.40.10, 7 hits
InterProiView protein in InterPro
IPR013783, Ig-like_fold
IPR000535, MSP_dom
PROSITEiView protein in PROSITE
PS50202, MSP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiCFA65_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: Q6ZU64
Secondary accession number(s): A2BDD8
, E9PCR1, E9PG25, E9PG72, Q6ZSR8, Q8N0T4, Q8NDJ3
<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: May 29, 2007
Last sequence update: May 29, 2007
Last modified: December 2, 2020
This is version 129 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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