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Entry version 102 (08 May 2019)
Sequence version 3 (04 Feb 2015)
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Protein

Cilia- and flagella-associated protein 54

Gene

CFAP54

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

Required for assembly and function of cilia and flagella.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

<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, Differentiation, Spermatogenesis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cilia- and flagella-associated protein 54Curated
<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:CFAP54Imported
Synonyms:C12orf55Imported, C12orf63Imported
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26456 CFAP54

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96N23

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

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

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
144535

Open Targets

More...
OpenTargetsi
ENSG00000188596

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA144596481

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFAP54

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434452

<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_00003246061 – 3096Cilia- and flagella-associated protein 54Add BLAST3096

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96N23

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

More...
PaxDbi
Q96N23

PeptideAtlas

More...
PeptideAtlasi
Q96N23

PRoteomics IDEntifications database

More...
PRIDEi
Q96N23

ProteomicsDB human proteome resource

More...
ProteomicsDBi
77458

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96N23

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

More...
PhosphoSitePlusi
Q96N23

<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

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Bgeei
ENSG00000188596 Expressed in 90 organ(s), highest expression level in quadriceps femoris

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96N23 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96N23 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039897

<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

Protein interaction database and analysis system

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IntActi
Q96N23, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000431759

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96N23

Database of comparative protein structure models

More...
ModBasei
Search...

<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

<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 CFAP54 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IECN Eukaryota
ENOG410ZUA4 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162446

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000171091

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96N23

Identification of Orthologs from Complete Genome Data

More...
OMAi
TCHELVE

Database of Orthologous Groups

More...
OrthoDBi
31951at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96N23

TreeFam database of animal gene trees

More...
TreeFami
TF328826

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027912 CFAP54

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14858 DUF4486, 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_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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96N23-1) [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
MAAQGSPSSS PSDDSTTSGS LPELPPTSTA TSRSPPESKG SSRSSLLQWT
60 70 80 90 100
CPEDSLPLAV FYGPLDAKNP LLASCEKEIQ ELLGFMRKKK ALATTEEEKH
110 120 130 140 150
EFRRRCATSL FNIWTKYAPR LPADYYNEKL LKVGDSLCQM KEYKLALLQC
160 170 180 190 200
YGRYLQQFNT NFDENKVDVT QFKATFFPKG FKDKTAGLTF HALSGKNMCN
210 220 230 240 250
YQLVCDSDEN LKNKESVVQC LHILSSLRLI MQVALPQEHL CWIIFNGTIY
260 270 280 290 300
IYTICRKLMV IGQSSKALEY LLWASMCMES LVPLLSLRYL TWRATLYTAV
310 320 330 340 350
CQCCYDCHAG IHGEAFARRA LAKIDELRQL ELMSSSKSQE ESRRYFREAT
360 370 380 390 400
MKMAVMIFKR GVFESRRKNK AVFRPKIRIN LREVQTLSWP RTVTERLLDE
410 420 430 440 450
MFDSTASQFL AVLEALSDSN RRILQTGPIV TDEVEIHDVV SELFMAGKEL
460 470 480 490 500
LIMSNIGADG MLDFPKTSLL ELMIGRKDVI SVDAAVKFIK LAFTYEEWSL
510 520 530 540 550
FESSAVHLIY FLQRQDDPES KKAEKDLTLL IAMEPLINVK RNKGLIFPLE
560 570 580 590 600
NYKEGQSTQI YLKKIAVHDT CLKTCGYSED IFHLAATLYV CVCTAPQDVQ
610 620 630 640 650
PDKEIVVDTI MFLWQKCKLG IQRLNISRND YAKFTQKIST NKWIYLLWQI
660 670 680 690 700
NEVIHCYKME DIDIVVVAEV TLRLSEILES LGSPGRKFKQ SLDVPLREGT
710 720 730 740 750
NKFPGAPKGI TEILPILQKN PVEQLLFAYK LLDRAIGGIN LNCMLTSLPN
760 770 780 790 800
GSSVIDHCYA KRTHHIDGDT YKPLASNSFM MDLHLELIQA QHRIAVVLLD
810 820 830 840 850
KLQVLQTPTV SKDISTKGPE KLKQSGSTDC FTELNIMNKI KKNTLSKAIY
860 870 880 890 900
LMQKALLIFE KDATSTSSWE LLMEAYSLIQ RIEAEQNALY SYQKYLESSK
910 920 930 940 950
RKKSRVPPPP ILLSRTHCSV TLKPAPFTSE VKVSWYCILG CKAEGSYGKV
960 970 980 990 1000
RLNNNHLPNS GEAIPADGKS VFEVKGLETN EKYVFAVAAY SNNGKLVGGA
1010 1020 1030 1040 1050
IGETTKPILV YPPLSTITAR MFLTQVAYQV GNYELAKKVF SPVWDYFVAS
1060 1070 1080 1090 1100
PLQDEQSVIC LSNIITITQR RLHSDILAET SSILLYLFLR NIFVTSDIKI
1110 1120 1130 1140 1150
KEENLFCDNI KGNEIFPSQQ IARLIECERV LVALELSNFL NDSSYALQAV
1160 1170 1180 1190 1200
TQCYGLLAPI IYHNIVLVPV VQILIKCIVV LQGLPSIVCS KKHTASFESI
1210 1220 1230 1240 1250
QHMIACCIFY ITKILRSWRE YDLAVMIINY GKKMLDITPG CKSLFDGSNE
1260 1270 1280 1290 1300
QEEMPEEDSS KKSLKTKKPQ QILLPEKINE QLALLETHLL KLTKQYVTSE
1310 1320 1330 1340 1350
LSGGEDPIFL YPVVLNWSVK GAVKEVMKFK QKPRFLEFFT QVMLKCMNEE
1360 1370 1380 1390 1400
KFHLMVEVTT PVHDFLKRRN ESLLGLIKVK YKDSALNKKA NKSLKFKAAV
1410 1420 1430 1440 1450
MEIGRSAEMQ QRIRSKKKET LRDFIFKNPA ISEMVAHERN RRTSVRKAAQ
1460 1470 1480 1490 1500
RYLMDYLNPL ILSYVKRKRF HRLSLEEMPW RAQMNLYLAG AHFNLVLQKL
1510 1520 1530 1540 1550
WECTKMKFGT SHMMVSFRSC DPNMFSLYNS GTVLPTRKLT VENYKAMLDF
1560 1570 1580 1590 1600
LLTAKKRKAN LPSDAEEFST FINSIMSDEN MSKTQTVYDS DSQSGSSAKE
1610 1620 1630 1640 1650
KDRGANLCVM DHFMKIFLYC RRAMVLAHRG GYWTLLQNCC RALWNFTQEL
1660 1670 1680 1690 1700
QILLKQAVDL DKTFPISQDG FLCTSVLPFY LGAELLIDML IQLQNTSSIK
1710 1720 1730 1740 1750
PIEDKGEFSV PSCYGNIKND NGGSSLTFEH PLDDVNVVDL KWIHDFVLKS
1760 1770 1780 1790 1800
LEVLYQVEKW ETLVSLAIQF NTVSHERYTE QVTPLLVYAQ RQLLLRIQKF
1810 1820 1830 1840 1850
KGPDITQQPC ARYEAEYGEK ITCRNFIGKQ LKINSSTIEA TSNCTDLLKM
1860 1870 1880 1890 1900
LISSEYSRAK ALVCVPVDVT DTLRCFRETL EKSKYHNRSI RHSRKLLSLF
1910 1920 1930 1940 1950
LAQTQDVLQA SNQRSLKVQA LHSLGSLLIF AEKKRAAFKC WCQALDDIFR
1960 1970 1980 1990 2000
KPDVLHTWKE FGPSLTNVTN SHSPPGFKDY SEEFLSRVGI WGCLQGAVIS
2010 2020 2030 2040 2050
AKIAQFIKSL NVEKKTDCCI LSALLFQGLL RTTLPHPKAE RCYAQYEITQ
2060 2070 2080 2090 2100
LLPGIELFSD RYRADICSVI ASLYYIIREL HFVRQNLIVL PLLALYQYFV
2110 2120 2130 2140 2150
SGICQDITRN LEARILKIEV LIDLRFFSEA FYEISQIFYG KNMPCPIPAG
2160 2170 2180 2190 2200
YKATGKMKIF QSFDSGKLLT SKENIQAIDE LRNKGLPAVL VTIGQPHLLN
2210 2220 2230 2240 2250
KFNFVKAYFF LSVAATINCV PENKFKTVIT NKSKPNLPNL EEIYSKDDGS
2260 2270 2280 2290 2300
SFYNLTKLKD EITLSMLKSM LLMEAEDRLN FLLSEVEQKT LSQCSAGELE
2310 2320 2330 2340 2350
IVVEARLQLA AVALQRHRAA YSAAIVFSTL TLLQDSKLFE KKVVQDDTEN
2360 2370 2380 2390 2400
PVSPGTSVTE NKDDSEFLDP ISLNAREYFN IHLWLRCRLA LVTAFVAQIH
2410 2420 2430 2440 2450
GIGIVKEDDM TDCLSLINEV CMEAKSAGDT ELQAEFLTQA VILGLQEKHL
2460 2470 2480 2490 2500
KADIMTNLQD IIHLLEGNEF ISPQSRLTLA RSLVLLDDLT KAEKFKESPS
2510 2520 2530 2540 2550
SKTGKLNLLT RAHSILTEQM LAFGETIEFR SSNTKYANPL QPLKNIYLPH
2560 2570 2580 2590 2600
VMLLAKIKMR IGHTVAKQVY YKNKRKDPSK WLPALHLFDV ALKLCRTTAV
2610 2620 2630 2640 2650
EEHEVEAEIL FQKGKIERQI LMEEKSPSFQ LESLYEAIQL SLKNDQNSGL
2660 2670 2680 2690 2700
IRDSYLEMAL LYFHLKKPKI KISGSPLTLK PPLRRSSSVK ETSANKFEMY
2710 2720 2730 2740 2750
SSLAWIAIRA AAQVSEAVLA INLLIGKKNT RMHKVNQVAL PNIPEFAALD
2760 2770 2780 2790 2800
LLSSYTDYLL DNYQVLFQTS CTFLYQNDDV CDSADGRKKT QTKVDITWIL
2810 2820 2830 2840 2850
LLRYYIHLQR INNLSKLLAS ATPVSGISLP DDTLLTSLYN SELILRQKEV
2860 2870 2880 2890 2900
HFFLKKFLQL YSSSCIDEFP KELLCQLENP PLSEKDLRES SAKLYRDSSV
2910 2920 2930 2940 2950
QSILSFKPVS GSSCVDITPI EMVTQASNKE LCFQWYIPPL DRPPKETEPM
2960 2970 2980 2990 3000
VLLLYAYNLK PLKISDVRHS TYNSTCVGSL WIPLNRVIAI HEKLSNLAQI
3010 3020 3030 3040 3050
AELSLPAAPE ITSNENIYEV EVEEESVDNE MEDMIIQCCS EIASLFLNDK
3060 3070 3080 3090
EPTPLSEVPF DISLPSIFNL ERLFDLANGC ILSGGSLFNW IVSIIP
Note: No experimental confirmation available. Gene prediction based on partial mRNA data.
Length:3,096
Mass (Da):351,970
Last modified:February 4, 2015 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA36A8FF3D80354CF
GO
Isoform 2 (identifier: Q96N23-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2761-2772: DNYQVLFQTSCT → GMFGCLHIMQKN
     2773-3096: Missing.

Note: Incomplete sequence. No experimental confirmation available.
Show »
Length:2,772
Mass (Da):315,259
Checksum:iD0092837C29FC87B
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MTQ3A0A0A0MTQ3_HUMAN
Cilia- and flagella-associated prot...
CFAP54
644Annotation 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>
A0A1B0GU80A0A1B0GU80_HUMAN
Cilia- and flagella-associated prot...
CFAP54
2,067Annotation 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>
H0YIB5H0YIB5_HUMAN
Cilia- and flagella-associated prot...
CFAP54
265Annotation 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 BAC86439 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti233V → A in BAB71089 (PubMed:14702039).Curated1
Sequence conflicti1672L → F in BAC86439 (PubMed:14702039).Curated1
Sequence conflicti2168L → P in BAC86439 (PubMed:14702039).Curated1
Sequence conflicti2241E → K in BAC86439 (PubMed:14702039).Curated1
Sequence conflicti2365S → N in BAC86439 (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_05683411P → S. Corresponds to variant dbSNP:rs3809197Ensembl.1
Natural variantiVAR_056835558T → A. Corresponds to variant dbSNP:rs2160501Ensembl.1
Natural variantiVAR_056836562L → F. Corresponds to variant dbSNP:rs2160502Ensembl.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_0573652761 – 2772DNYQV…QTSCT → GMFGCLHIMQKN in isoform 2. Add BLAST12
Alternative sequenceiVSP_0573662773 – 3096Missing in isoform 2. Add BLAST324

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC007513 Genomic DNA No translation available.
AC007564 Genomic DNA No translation available.
AC008118 Genomic DNA No translation available.
AK056076 mRNA Translation: BAB71089.1
AK126100 mRNA Translation: BAC86439.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS76588.1 [Q96N23-1]

NCBI Reference Sequences

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RefSeqi
NP_001293013.1, NM_001306084.1 [Q96N23-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000524981; ENSP00000431759; ENSG00000188596 [Q96N23-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
144535

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:144535

UCSC genome browser

More...
UCSCi
uc058sav.1 human

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
AC007513 Genomic DNA No translation available.
AC007564 Genomic DNA No translation available.
AC008118 Genomic DNA No translation available.
AK056076 mRNA Translation: BAB71089.1
AK126100 mRNA Translation: BAC86439.1 Different initiation.
CCDSiCCDS76588.1 [Q96N23-1]
RefSeqiNP_001293013.1, NM_001306084.1 [Q96N23-1]

3D structure databases

SMRiQ96N23
ModBaseiSearch...

Protein-protein interaction databases

IntActiQ96N23, 2 interactors
STRINGi9606.ENSP00000431759

PTM databases

iPTMnetiQ96N23
PhosphoSitePlusiQ96N23

Polymorphism and mutation databases

BioMutaiCFAP54
DMDMi296434452

Proteomic databases

jPOSTiQ96N23
PaxDbiQ96N23
PeptideAtlasiQ96N23
PRIDEiQ96N23
ProteomicsDBi77458

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000524981; ENSP00000431759; ENSG00000188596 [Q96N23-1]
GeneIDi144535
KEGGihsa:144535
UCSCiuc058sav.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
144535
DisGeNETi144535

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CFAP54
HGNCiHGNC:26456 CFAP54
HPAiHPA039897
neXtProtiNX_Q96N23
OpenTargetsiENSG00000188596
PharmGKBiPA144596481

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IECN Eukaryota
ENOG410ZUA4 LUCA
GeneTreeiENSGT00940000162446
HOGENOMiHOG000171091
InParanoidiQ96N23
OMAiTCHELVE
OrthoDBi31951at2759
PhylomeDBiQ96N23
TreeFamiTF328826

Miscellaneous databases

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

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ChiTaRSi
CFAP54 human

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

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GenomeRNAii
144535

Protein Ontology

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PROi
PR:Q96N23

Gene expression databases

BgeeiENSG00000188596 Expressed in 90 organ(s), highest expression level in quadriceps femoris
ExpressionAtlasiQ96N23 baseline and differential
GenevisibleiQ96N23 HS

Family and domain databases

InterProiView protein in InterPro
IPR027912 CFAP54
PfamiView protein in Pfam
PF14858 DUF4486, 1 hit

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 nameiCFA54_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: Q96N23
Secondary accession number(s): E9PJL5, Q6ZTY8
<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: March 18, 2008
Last sequence update: February 4, 2015
Last modified: May 8, 2019
This is version 102 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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