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Entry version 150 (16 Oct 2019)
Sequence version 2 (10 Oct 2018)
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Protein

Cilia- and flagella-associated protein 44

Gene

CFAP44

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

Flagellar protein involved in sperm flagellum axoneme organization and function.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 - Biological processi

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q96MT7

<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 44Imported
Alternative name(s):
WD repeat-containing protein 52Imported
<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:CFAP44Imported
Synonyms:WDR52Imported
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25631 CFAP44

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617559 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96MT7

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

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

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

Cell projection, Cilium, Cytoplasm, Cytoskeleton, 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 20 (SPGF20)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility.
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_080886463 – 1854Missing in SPGF20. 1 PublicationAdd BLAST1392
Natural variantiVAR_0808871059 – 1854Missing in SPGF20. 1 PublicationAdd BLAST796

Organism-specific databases

DisGeNET

More...
DisGeNETi
55779

MalaCards human disease database

More...
MalaCardsi
CFAP44
MIMi617593 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000206530

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
PA134928828

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96MT7

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFAP44

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74760982

<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_00003051021 – 1854Cilia- and flagella-associated protein 44Add BLAST1854

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1083Phosphoserine1 Publication1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96MT7

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

More...
PaxDbi
Q96MT7

PeptideAtlas

More...
PeptideAtlasi
Q96MT7

PRoteomics IDEntifications database

More...
PRIDEi
Q96MT7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77404 [Q96MT7-1]
77405 [Q96MT7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96MT7

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

More...
PhosphoSitePlusi
Q96MT7

<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

Testis-specific.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000206530 Expressed in 149 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96MT7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96MT7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA067258

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120894, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q96MT7, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000377428

<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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati226 – 267WD 1Sequence analysisAdd BLAST42
Repeati270 – 309WD 2Sequence analysisAdd BLAST40
Repeati315 – 358WD 3Sequence analysisAdd BLAST44
Repeati365 – 402WD 4Sequence analysisAdd BLAST38
Repeati468 – 507WD 5Sequence analysisAdd BLAST40
Repeati513 – 553WD 6Sequence analysisAdd BLAST41
Repeati573 – 612WD 7Sequence analysisAdd BLAST40
Repeati804 – 843WD 8Sequence analysisAdd BLAST40
Repeati856 – 895WD 9Sequence analysisAdd BLAST40

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 coili931 – 958Sequence analysisAdd BLAST28

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 biasi688 – 741Glu-richAdd BLAST54

<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 CFAP44 family.Curated

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IS9Z Eukaryota
ENOG410XRYZ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161555

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000068177

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96MT7

Identification of Orthologs from Complete Genome Data

More...
OMAi
KGRKPCH

Database of Orthologous Groups

More...
OrthoDBi
88812at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96MT7

TreeFam database of animal gene trees

More...
TreeFami
TF323192

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.130.10.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00400 WD40, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00320 WD40, 6 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978 SSF50978, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 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>. 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 (2+)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 2 <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 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: Q96MT7-2) [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
MKEPDDQDTD GEKSVTSKSD GKKSLRSSKS ESRSPVQEDN TFLEDDTDET
60 70 80 90 100
FTKGEGSYLE EDSDEERLEG SLSSFQYGDL QSTTVPQQTP APAVEEAEEE
110 120 130 140 150
VKKKISESFF YDYMELASMP FVTLDSNIPL DLLTLVHSFG YDCRKRANLQ
160 170 180 190 200
LLDDSIAIYI AGNQLIFLNL KTKEQIYLRS SSGEGIGVIG VHPHKTYFTV
210 220 230 240 250
AEKGSFPDII IYEYPSLRPY RVLRDGTEKG YAYVDFNYSG NLLASVGSNP
260 270 280 290 300
DYTLTIWNWK EEQPILRTKA FSQEVFKVTF NPDKEEQLTT SGSGHIKFWE
310 320 330 340 350
MAFTFTGLKL QGSLGRFGKT ITTDIEGYME LPDGKVLSGS EWGNMLLWEG
360 370 380 390 400
GLIKVELCRG TSKSCHNGPI NQIMLYEGEV ITVGSDGYVR IWDFETIDTA
410 420 430 440 450
DVIDETGLLE IEPINELQVD KNVNLFSMIK MNETGNNFWL AQDANGAIWK
460 470 480 490 500
LDLSFSNITQ DPECLFSFHS GAIEAVAVSP LTYLMATTAL DCSVRIYDFA
510 520 530 540 550
SKTPLAQMKF KQGGTALVWV PRMVNFTGAQ IIVGFEDGVV RILELYDPKG
560 570 580 590 600
LTIFAGRKKI LDADIQLKQV FKPHTACVTA LAYERDGEIL ATGSKDQTVF
610 620 630 640 650
FFEVERDYKP IGYINTPGPV CQLMWSPMSH PESTLLIICE NGYILEAPLP
660 670 680 690 700
TIKQEEDDHD VVSYEIKDMC IKCFHFSSVK SKILRLIEIE KRERQRELKE
710 720 730 740 750
KIREERRNKL AAEMGEDGEK EFQEEEEEKE EEEEEEEPLP EIFIPSTPSP
760 770 780 790 800
ILCGFYSEPG KFWVSLGGYD SGFLYHCEFP PCDESSDFKE QKDEPIDVRY
810 820 830 840 850
LADTEDNPIQ TITFNINKVM MFCGMKNGAI RVYVLNQNDP SLTSLVDYWH
860 870 880 890 900
FNMHDNNYGC IKSIANSFDD RFLVTAGADG NIFVFNIFSE FMLRKDMKAK
910 920 930 940 950
VPSPRFGIET EPIPEDIEDP KAYSIENARR KREHDKLMKE VGEIKARKRE
960 970 980 990 1000
QIKALRSEFC NLLEMNEKLP KHMQFKRTDF DVDSQIRAEM HRKTAFKIQQ
1010 1020 1030 1040 1050
VEKELAWEKE KHELGLMKLK NRFRDPLESD TIVVHAILSD HKISSYRLVQ
1060 1070 1080 1090 1100
PSKYSKFKRA SQSERKPSKL DRFEKEGPGR KDSQRDAGGS VTIQEESIIE
1110 1120 1130 1140 1150
KGKKFRPKTL SEIIVENQIE KTRKLILKAE RAQLKIQQRK KEWEELYKSK
1160 1170 1180 1190 1200
PGDDYEDPKD LQAIKEAQVY MGDFNLKTAP DYKIPEHMRI NAAKKEEELG
1210 1220 1230 1240 1250
HLDSLVHGNK RHMNKCILSL RDLKVAVVEE IQCLVQELKN IQSTLHISKH
1260 1270 1280 1290 1300
IPIPKIPQIH PEEVPEKRFQ YDEETLLNFK QQQMKSKDEK SPGVEQTGSG
1310 1320 1330 1340 1350
GPVGGFLKLS SRKDGDLTTR DSISRSSKAS TFSLDIPKCL EFEKAEPTDV
1360 1370 1380 1390 1400
ELEIMKRDEI KHVYMQQYLV NRIKELVVTF DAELRLLRHQ KLKLDTQMKL
1410 1420 1430 1440 1450
SDLHHVTLFQ EILLLKNFEK QENILQERVN SLDKEEQYMQ WKINETLKEM
1460 1470 1480 1490 1500
EEKKNEITKL QEQEKALYAG FQAAIGENNK FANFLMKVLK KKIKRVKKKE
1510 1520 1530 1540 1550
VEGDADEDEE SEESSEEESS LESDEDESES EDEVFDDSIC PTNCDVALFE
1560 1570 1580 1590 1600
LALHLREKRL DIEEALVEEK KIVDNLKKEY DTLSKKVKIV ATNLNAAEEA
1610 1620 1630 1640 1650
LEAYQREKQQ RLNELLVVIP LKLHQIEYVV FGEIPSDLSG TLVFSNHALR
1660 1670 1680 1690 1700
RLQERIHELQ EENSKQQKLN KEWRERRKQL IREKREMTKT IHKMEETVRQ
1710 1720 1730 1740 1750
LMISKFGRVV NLEALQTLSV NTTLEELKIR KLRKELANAK EMKMWEEKIA
1760 1770 1780 1790 1800
QMRWELMMKT KEHTRKLYQM NDLCIEKKKL DSRLNTLQNQ QGNAFQGPRE
1810 1820 1830 1840 1850
ADVVAREEVT ELIQLQAERI SALKEEIALL RRKGSLILPP IQSPREKEIQ

PADL
Length:1,854
Mass (Da):213,865
Last modified:October 10, 2018 - 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:iB086EB5D6455C187
GO
Isoform 1 (identifier: Q96MT7-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     979-982: DFDV → VSLI
     983-1854: Missing.

Show »
Length:982
Mass (Da):111,729
Checksum:iD7B481E2EB4D30E1
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y896H0Y896_HUMAN
Cilia- and flagella-associated prot...
CFAP44
419Annotation 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>
C9K0A4C9K0A4_HUMAN
Cilia- and flagella-associated prot...
CFAP44
84Annotation 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>
F8WEX0F8WEX0_HUMAN
Cilia- and flagella-associated prot...
CFAP44
37Annotation 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>
H7C591H7C591_HUMAN
Cilia- and flagella-associated prot...
CFAP44
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>
H0Y883H0Y883_HUMAN
Cilia- and flagella-associated prot...
CFAP44
56Annotation 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>
H7C512H7C512_HUMAN
Cilia- and flagella-associated prot...
CFAP44
26Annotation 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>
A0A1D5RMR1A0A1D5RMR1_HUMAN
Cilia- and flagella-associated prot...
CFAP44
10Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06210553K → E. Corresponds to variant dbSNP:rs59722850Ensembl.1
Natural variantiVAR_053435284K → N. Corresponds to variant dbSNP:rs16845107Ensembl.1
Natural variantiVAR_080886463 – 1854Missing in SPGF20. 1 PublicationAdd BLAST1392
Natural variantiVAR_0808871059 – 1854Missing in SPGF20. 1 PublicationAdd BLAST796

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_059893979 – 982DFDV → VSLI in isoform 1. 4
Alternative sequenceiVSP_059894983 – 1854Missing in isoform 1. Add BLAST872

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK056472 mRNA Translation: BAB71193.1
AC023894 Genomic DNA No translation available.
AC026329 Genomic DNA No translation available.
AC026348 Genomic DNA No translation available.
AC112128 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79641.1
BC101582 mRNA Translation: AAI01583.1
BC113553 mRNA Translation: AAI13554.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2972.1 [Q96MT7-1]
CCDS54624.1 [Q96MT7-2]

NCBI Reference Sequences

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RefSeqi
NP_001157968.1, NM_001164496.1 [Q96MT7-2]
NP_060808.2, NM_018338.3 [Q96MT7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000295868; ENSP00000295868; ENSG00000206530 [Q96MT7-1]
ENST00000393845; ENSP00000377428; ENSG00000206530 [Q96MT7-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55779

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55779

UCSC genome browser

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UCSCi
uc003ead.2 human [Q96MT7-2]

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
AK056472 mRNA Translation: BAB71193.1
AC023894 Genomic DNA No translation available.
AC026329 Genomic DNA No translation available.
AC026348 Genomic DNA No translation available.
AC112128 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79641.1
BC101582 mRNA Translation: AAI01583.1
BC113553 mRNA Translation: AAI13554.1
CCDSiCCDS2972.1 [Q96MT7-1]
CCDS54624.1 [Q96MT7-2]
RefSeqiNP_001157968.1, NM_001164496.1 [Q96MT7-2]
NP_060808.2, NM_018338.3 [Q96MT7-1]

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

BioGridi120894, 4 interactors
IntActiQ96MT7, 3 interactors
STRINGi9606.ENSP00000377428

PTM databases

iPTMnetiQ96MT7
PhosphoSitePlusiQ96MT7

Polymorphism and mutation databases

BioMutaiCFAP44
DMDMi74760982

Proteomic databases

MassIVEiQ96MT7
PaxDbiQ96MT7
PeptideAtlasiQ96MT7
PRIDEiQ96MT7
ProteomicsDBi77404 [Q96MT7-1]
77405 [Q96MT7-2]

Genome annotation databases

EnsembliENST00000295868; ENSP00000295868; ENSG00000206530 [Q96MT7-1]
ENST00000393845; ENSP00000377428; ENSG00000206530 [Q96MT7-2]
GeneIDi55779
KEGGihsa:55779
UCSCiuc003ead.2 human [Q96MT7-2]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55779
DisGeNETi55779

GeneCards: human genes, protein and diseases

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GeneCardsi
CFAP44
HGNCiHGNC:25631 CFAP44
HPAiHPA067258
MalaCardsiCFAP44
MIMi617559 gene
617593 phenotype
neXtProtiNX_Q96MT7
OpenTargetsiENSG00000206530
Orphaneti276234 Non-syndromic male infertility due to sperm motility disorder
PharmGKBiPA134928828

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IS9Z Eukaryota
ENOG410XRYZ LUCA
GeneTreeiENSGT00940000161555
HOGENOMiHOG000068177
InParanoidiQ96MT7
OMAiKGRKPCH
OrthoDBi88812at2759
PhylomeDBiQ96MT7
TreeFamiTF323192

Enzyme and pathway databases

SignaLinkiQ96MT7

Miscellaneous databases

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

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ChiTaRSi
CFAP44 human

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

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GenomeRNAii
55779
PharosiQ96MT7

Protein Ontology

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PROi
PR:Q96MT7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000206530 Expressed in 149 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ96MT7 baseline and differential
GenevisibleiQ96MT7 HS

Family and domain databases

Gene3Di2.130.10.10, 3 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 6 hits
SUPFAMiSSF50978 SSF50978, 3 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCFA44_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: Q96MT7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 10, 2018
Last modified: October 16, 2019
This is version 150 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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