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Entry version 131 (02 Dec 2020)
Sequence version 5 (28 Mar 2018)
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Protein

Cilia- and flagella-associated protein 47

Gene

CFAP47

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

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6ZTR5

<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 47Curated
<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:CFAP47Imported
Synonyms:CHDC2Imported, CXorf22Imported, CXorf30Imported, CXorf59Imported
<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 X

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000165164.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26708, CFAP47

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZTR5

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000165164

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145149062

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6ZTR5, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFAP47

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74751127

<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_00000797311 – 3187Cilia- and flagella-associated protein 47Add BLAST3187

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6ZTR5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6ZTR5

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

More...
PaxDbi
Q6ZTR5

PeptideAtlas

More...
PeptideAtlasi
Q6ZTR5

PRoteomics IDEntifications database

More...
PRIDEi
Q6ZTR5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
1739
68288 [Q6ZTR5-1]
68289 [Q6ZTR5-2]
72578

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ZTR5

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

More...
PhosphoSitePlusi
Q6ZTR5

<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
ENSG00000165164, Expressed in right uterine tube and 79 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6ZTR5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6ZTR5, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000165164, Tissue enhanced (brain, fallopian tube, pituitary gland)

<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
127994, 1 interactor
130387, 3 interactors

Protein interaction database and analysis system

More...
IntActi
Q6ZTR5, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000297866

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6ZTR5, 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>Domaini1746 – 1869Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST124

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QQ4Q, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000163202

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_008435_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6ZTR5

Identification of Orthologs from Complete Genome Data

More...
OMAi
RDCKREL

Database of Orthologous Groups

More...
OrthoDBi
37218at2759

TreeFam database of animal gene trees

More...
TreeFami
TF328359

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.418.10, 1 hit
2.60.40.10, 5 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001715, CH-domain
IPR036872, CH_dom_sf
IPR013783, Ig-like_fold

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47576, SSF47576, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50021, CH, 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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 5 (identifier: Q6ZTR5-5) [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
MNTQKGSLTI NVHRGSLAMS IQRGSLVPRD MDSSGRDMQL RVIPAEVKFL
60 70 80 90 100
DTMAGRVYRL PITVHNICRW NQKIRFKEPV KPQFKLMLTS LDKELASGLQ
110 120 130 140 150
MTAMVEYHPD KDEDTFDRLL ISIENKTTEI PLIGLIPSCQ LEIESVVNFG
160 170 180 190 200
TLVANSKVYS KEITITNHGK APGIFKAEYH GQLPILIFPT SGIVDAKSSM
210 220 230 240 250
VIKVDFCADQ PRIVDEEAIV ILQGQPEMLL SIKAHVVEQI IELLSMSSDR
260 270 280 290 300
RLECIHFGPV FFGSSKIKHA RVYNNSPEPI NWVAIIQDDA VGEELGTDIQ
310 320 330 340 350
QRTDIALNNL TYIRKIKNID TTIIISCLPN EGTLQPYQKT VITFCFTPKL
360 370 380 390 400
MAVGKKDIGP SYRQDYALFL RFESVGSKDG FLRDDDYKTI KSERFQKVEL
410 420 430 440 450
ALTGTGLPVL LQFDPGPVLN FKPCFMGERS EIQCIIKNQC ELLPVTYHFK
460 470 480 490 500
KTANFEIDPE KGKITGGGMV DVMCSFVPHQ LGVFKVKQMI EIIGLVAEED
510 520 530 540 550
LQSLSVKSFH HVYLAFNSIC KASTKKVVMK FDPGILPSIR NPTGKFVVKD
560 570 580 590 600
LAKRKNYAPV AMLQSAMTRT HNHRSCEEPV KDMLLAFPND RAATIRSKDH
610 620 630 640 650
HKHFRPIFTK VPRFNYVNHD FAYTTFEKQQ KKLHENYYAM YLKYLRSVRL
660 670 680 690 700
QKKQAERERM YSYDDTDIGL EPGSGLKSPS LSEAEIEEEL SSAANSIRAN
710 720 730 740 750
RLLTTRGIAS QEEESVRRKV LKGLKSEPST PQEKHDCSLM LTPKQIHQVI
760 770 780 790 800
VGPSVLNFGN ICVNSPNTHL LHVINMLPMH VLLQLDTDLE ELQKTNQFSY
810 820 830 840 850
VILPTSSTYI SMVFDSPTIG KFWKSFTFTV NNVPSGHILV VAVVQPVTLE
860 870 880 890 900
LSSNELVLRP RGFFMKTCFR GTVRLYNRQN CCAQFQWQPV NTGRGIAFSI
910 920 930 940 950
CPAKGTVEAY SSLECEVTWQ QGFSSPEEGE FILHVFQGNA LKLKCVAHLG
960 970 980 990 1000
RTKVLLLQPR ILFSNCPQGL TTWRKAILQN VGQNHAYFKV CSQSLLPIIN
1010 1020 1030 1040 1050
IIPSQGIVPF GGITVLNISC KPTVAEKFDT RAKVSIRHAN VIDLRIGGSA
1060 1070 1080 1090 1100
EIADVEINPD VFNFSGAYIG GTQIIPFVIK NKGITRARVE FNLKDFPDFS
1110 1120 1130 1140 1150
MDLKDKSEEF KDPAVPYIYS LELEENTSLE CSITFSPKEV TVVEFIIQVQ
1160 1170 1180 1190 1200
INFFESSKLY TKYLSSSPSN PKTVPLIRPC YVQATALQSP LNLSSTKFVF
1210 1220 1230 1240 1250
EIPLHEMNPN NKVTKTQNLV LYNITKHHVT WTLDLSNTGK LFKDGTFKFS
1260 1270 1280 1290 1300
VLNGILRPNE KYNVSISFCP NRPGTYTADI PMLLNYIPVC YKILHLTGEV
1310 1320 1330 1340 1350
KSPELLFDPP FIFFTPVPLD ITTVMDINIL PQNYFRNSTL CVQIPTVRLL
1360 1370 1380 1390 1400
DGEEIHPLSV KFPKGRVIPG SHSGINNKLT CHLSFKSSKP VSFFTNLLFC
1410 1420 1430 1440 1450
DDRKNWFSLP VTATAENCIL TIYPYMAIHL DKQNIILKND KDEYLKKTRD
1460 1470 1480 1490 1500
GVLPPYQDAK PPSPASIKKT YTTSKFNDAE PAKGNLFIGV EVLPENLHLD
1510 1520 1530 1540 1550
ESETSEEDHG SLEKEKYEQF LSLEEGTKAH YFFEKVVNAA QTWFSLFGWP
1560 1570 1580 1590 1600
EGPHSFSIPE TIRRDVYKMQ FYSSTSPPQK FSRQNDFSKY NKTIYDVLLH
1610 1620 1630 1640 1650
LSGKMPPGIN SSQSLPVDNH EKRVIQLHLQ HSSLLDFLNA QGGCISHVLP
1660 1670 1680 1690 1700
EFLLEPEDYK RWIEIMSSTN TMPVSSCTPK KKCSIVIEMS KFEAWSKRAW
1710 1720 1730 1740 1750
TDVFLQIYKV LVLSRVVPYC SNNMPPICVQ NTPKVNPCFA SSNIYSDSER
1760 1770 1780 1790 1800
ILLSWMNINY ENTRHVIWKN CHKDVIPSER WIVNFDKDLS DGLVFATQLG
1810 1820 1830 1840 1850
AYCPFLIESH FINMYTRPKS PEEYLHNCLI IVNTLYEIDF DVEIQATDIC
1860 1870 1880 1890 1900
DPNPILMLML CVYMYERLPT YLPKKVVSFE CTLHDTVLNK ILLKNSSSRN
1910 1920 1930 1940 1950
LVYNARIVGR DAADFSLSQK GNVVTISPRN EINVTLKFTS RFIRPAEASL
1960 1970 1980 1990 2000
LLISKPKNAV RGITMTFALK GKVLDFKAID IIKCESPCYQ FQEVTVNVKN
2010 2020 2030 2040 2050
PFHTAGDFSV ILVESSTFVS SPTKLTESRQ YPKHDDDMSS SGSDTDQGCS
2060 2070 2080 2090 2100
DSPNVLHTSI KSTFIREFFC SMHTVHLGVK GTSSLELRFL PFNMHVRYCV
2110 2120 2130 2140 2150
IILSNKKIGQ LIYVAEGKGM TPLPSSCLPM NTSSSPVYYS TTREEGPNKK
2160 2170 2180 2190 2200
YPVLYLKCKP YQILYVDLKL PMTNEAKEKA LAFAAQQQMS SIEYERRLIT
2210 2220 2230 2240 2250
GTLESSSIRV AIALLGLTKI ETLMLFRISK LRKPKTVSYT TEVSLPKYFY
2260 2270 2280 2290 2300
IPEKISIPWI PEPQVIKLSK AKASDGSVPL PLQFLPLQSG RYPCKILLKS
2310 2320 2330 2340 2350
RYDVRAYYVE GIVNEEQPEA KFEFETPAFE ALTQNIPIKN QTNDKWTFQV
2360 2370 2380 2390 2400
TIEGEWFYGP VDLHVGPDEI VEYPLTFKPI FECVITGKLI LQNEVDGREH
2410 2420 2430 2440 2450
IFDIKGVGKK PSALEHITVE CQVGNVTQKH ITLPHFTNTA LTFKVTADLP
2460 2470 2480 2490 2500
IVWGNPQITV YPYKEILYLI HVRPWKRGIL KGTITFSTTR RCTTRRKHDD
2510 2520 2530 2540 2550
YEEDTDQDQA LSCLDSITEQ SSILDDADTY GNFNNLRFWY NLEIHSTPGP
2560 2570 2580 2590 2600
PIEIMEMTCI ALDSTCIEIP LSNPKDRGLH LEVQLTSAAL NGDNEIILSP
2610 2620 2630 2640 2650
LQCTKYIVWY SPATTGYSDE SIIFQPEMAE EFWYLLKLTI ELPKPTTMPE
2660 2670 2680 2690 2700
IQCDLGKHVT QIIPLVNCTH ETLKLQVTNS NPENFVLDIN RKSQLIISPH
2710 2720 2730 2740 2750
STTELPVLFY PSALGRADHQ ACINFYCTQF TEWKFYLSGV GLFPQPLDTE
2760 2770 2780 2790 2800
RITTRIGLQS TIVIPFKNPT MEDVLIDIIL TSVEHPRNLV MDHCWDSFIY
2810 2820 2830 2840 2850
ESSAFRFSSP SEIQGIALPP KGNIDISLLF IPQIMKLHKT MVIIEMTKAN
2860 2870 2880 2890 2900
GKYWPIDNFD ELDIKFKSIV GIDSEEIQAI HWIYPIVGLP QAPPPKSPPV
2910 2920 2930 2940 2950
VIQCQSRKRA EEKVEIILNA GFFGFSLTPD LTEVLVIPKR NSHNFCEDPN
2960 2970 2980 2990 3000
EIPKIHEFEY EIQFESEAMK SKLESCVALY MIEKSYDIMA KRITFIFNLV
3010 3020 3030 3040 3050
FTPKKPLRSH ITLKIECVTE GIWKFPIMLI ATEPDTDAVI DIEGVGLFKE
3060 3070 3080 3090 3100
SVFELRLKSQ TRNPEPFTAH FLPGSDLEFF VKPQAGELLP FNTNGTLITV
3110 3120 3130 3140 3150
GFKPKMYCRK YKATLVIQTE EMYWKYEING LTPTTVPPKN AKAKIDATHK
3160 3170 3180
THDNMPVRPH NFVRENTKLI RTGVSSTIKG APLVKNQ
Length:3,187
Mass (Da):361,625
Last modified:March 28, 2018 - v5
<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:i63384F4597AAB067
GO
Isoform 1 (identifier: Q6ZTR5-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     949-976: LGRTKVLLLQPRILFSNCPQGLTTWRKA → VIIFLEHGFCFEGYEFVGYTLVYIVTYI
     977-3187: Missing.

Show »
Length:976
Mass (Da):110,411
Checksum:iDE14D0E93A093919
GO
Isoform 2 (identifier: Q6ZTR5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     752-754: GPS → VRY
     755-3187: Missing.

Show »
Length:754
Mass (Da):85,483
Checksum:i0888750DCD0293B9
GO
Isoform 6 (identifier: Q6ZTR5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1846-1927: ATDICDPNPI...SQKGNVVTIS → VCLRVFPKEM...HFFLLLPLDI
     1928-3187: Missing.

Show »
Length:1,927
Mass (Da):218,801
Checksum:i4210A17B805AFA08
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A182DWE8A0A182DWE8_HUMAN
Cilia- and flagella-associated prot...
CFAP47 RP13-11B7.1, hCG_1982542
502Annotation 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>
A0A0D9SEI5A0A0D9SEI5_HUMAN
Cilia- and flagella-associated prot...
CFAP47
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<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 AAI01699 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI01701 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC04251 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti522A → T in BAC86517 (PubMed:14702039).Curated1
Sequence conflicti903A → S in BAC86517 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_056856236V → M1 PublicationCorresponds to variant dbSNP:rs2336029Ensembl.1
Natural variantiVAR_060280345C → R. Corresponds to variant dbSNP:rs6632427Ensembl.1
Natural variantiVAR_060281561A → T. Corresponds to variant dbSNP:rs11795910Ensembl.1
Natural variantiVAR_060282634H → Y1 PublicationCorresponds to variant dbSNP:rs17852470Ensembl.1
Isoform 1 (identifier: Q6ZTR5-1)
Natural variantiVAR_082879964F → LCuratedCorresponds to variant dbSNP:rs6629027Ensembl.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_014372752 – 754GPS → VRY in isoform 2. 1 Publication3
Alternative sequenceiVSP_014373755 – 3187Missing in isoform 2. 1 PublicationAdd BLAST2433
Alternative sequenceiVSP_057885949 – 976LGRTK…TWRKA → VIIFLEHGFCFEGYEFVGYT LVYIVTYI in isoform 1. Add BLAST28
Alternative sequenceiVSP_057886977 – 3187Missing in isoform 1. 1 PublicationAdd BLAST2211
Alternative sequenceiVSP_0594901846 – 1927ATDIC…VVTIS → VCLRVFPKEMDAGVSGLRKE DMPSVWVVTIRLAVAVARTK RQKKGDIQFACFFVCLFFFI FVVISFSLWSRMHFFLLLPL DI in isoform 6. Add BLAST82
Alternative sequenceiVSP_0594911928 – 3187Missing in isoform 6. Add BLAST1260

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
AK093920 mRNA Translation: BAC04251.1 Different initiation.
AK126295 mRNA Translation: BAC86517.1
AC233304 Genomic DNA No translation available.
AL590065 Genomic DNA No translation available.
AL603753 Genomic DNA No translation available.
AL606467 Genomic DNA No translation available.
AL606516 Genomic DNA No translation available.
KF459051 Genomic DNA No translation available.
BC027936 mRNA Translation: AAH27936.1
BC101698 mRNA Translation: AAI01699.1 Different initiation.
BC101700 mRNA Translation: AAI01701.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS14237.2 [Q6ZTR5-1]
CCDS83464.1 [Q6ZTR5-5]

NCBI Reference Sequences

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RefSeqi
NP_001291477.1, NM_001304548.1 [Q6ZTR5-5]
NP_689845.2, NM_152632.3 [Q6ZTR5-1]
XP_016884942.1, XM_017029453.1 [Q6ZTR5-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000297866; ENSP00000297866; ENSG00000165164 [Q6ZTR5-1]
ENST00000378653; ENSP00000367922; ENSG00000165164 [Q6ZTR5-5]
ENST00000493930; ENSP00000433564; ENSG00000165164 [Q6ZTR5-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
286464

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:286464

UCSC genome browser

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UCSCi
uc004ddj.4, human [Q6ZTR5-5]
uc011mkc.4, human
uc064ymy.1, human

<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 - 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
AK093920 mRNA Translation: BAC04251.1 Different initiation.
AK126295 mRNA Translation: BAC86517.1
AC233304 Genomic DNA No translation available.
AL590065 Genomic DNA No translation available.
AL603753 Genomic DNA No translation available.
AL606467 Genomic DNA No translation available.
AL606516 Genomic DNA No translation available.
KF459051 Genomic DNA No translation available.
BC027936 mRNA Translation: AAH27936.1
BC101698 mRNA Translation: AAI01699.1 Different initiation.
BC101700 mRNA Translation: AAI01701.1 Different initiation.
CCDSiCCDS14237.2 [Q6ZTR5-1]
CCDS83464.1 [Q6ZTR5-5]
RefSeqiNP_001291477.1, NM_001304548.1 [Q6ZTR5-5]
NP_689845.2, NM_152632.3 [Q6ZTR5-1]
XP_016884942.1, XM_017029453.1 [Q6ZTR5-6]

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

BioGRIDi127994, 1 interactor
130387, 3 interactors
IntActiQ6ZTR5, 5 interactors
STRINGi9606.ENSP00000297866

PTM databases

iPTMnetiQ6ZTR5
PhosphoSitePlusiQ6ZTR5

Polymorphism and mutation databases

BioMutaiCFAP47
DMDMi74751127

Proteomic databases

jPOSTiQ6ZTR5
MassIVEiQ6ZTR5
PaxDbiQ6ZTR5
PeptideAtlasiQ6ZTR5
PRIDEiQ6ZTR5
ProteomicsDBi1739
68288 [Q6ZTR5-1]
68289 [Q6ZTR5-2]
72578

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
42875, 74 antibodies

Genome annotation databases

EnsembliENST00000297866; ENSP00000297866; ENSG00000165164 [Q6ZTR5-1]
ENST00000378653; ENSP00000367922; ENSG00000165164 [Q6ZTR5-5]
ENST00000493930; ENSP00000433564; ENSG00000165164 [Q6ZTR5-2]
GeneIDi286464
KEGGihsa:286464
UCSCiuc004ddj.4, human [Q6ZTR5-5]
uc011mkc.4, human
uc064ymy.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
286464
EuPathDBiHostDB:ENSG00000165164.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CFAP47
HGNCiHGNC:26708, CFAP47
HPAiENSG00000165164, Tissue enhanced (brain, fallopian tube, pituitary gland)
neXtProtiNX_Q6ZTR5
OpenTargetsiENSG00000165164
PharmGKBiPA145149062

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QQ4Q, Eukaryota
GeneTreeiENSGT00940000163202
HOGENOMiCLU_008435_0_0_1
InParanoidiQ6ZTR5
OMAiRDCKREL
OrthoDBi37218at2759
TreeFamiTF328359

Enzyme and pathway databases

PathwayCommonsiQ6ZTR5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
286464, 34 hits in 469 CRISPR screens

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

More...
ChiTaRSi
CFAP47, human

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

More...
GenomeRNAii
286464
PharosiQ6ZTR5, Tdark

Protein Ontology

More...
PROi
PR:Q6ZTR5
RNActiQ6ZTR5, protein

Gene expression databases

BgeeiENSG00000165164, Expressed in right uterine tube and 79 other tissues
ExpressionAtlasiQ6ZTR5, baseline and differential
GenevisibleiQ6ZTR5, HS

Family and domain databases

Gene3Di1.10.418.10, 1 hit
2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR001715, CH-domain
IPR036872, CH_dom_sf
IPR013783, Ig-like_fold
SUPFAMiSSF47576, SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS50021, CH, 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 nameiCFA47_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: Q6ZTR5
Secondary accession number(s): A0A140T8X2
, A6PW82, B1ARL5, Q5JRM8, Q8N6X8, Q8N9S7
<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: July 5, 2005
Last sequence update: March 28, 2018
Last modified: December 2, 2020
This is version 131 of the entry and version 5 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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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