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UniProtKB - Q8NHU2 (CFA61_HUMAN)

Entry version 137 (10 Feb 2021)
Sequence version 3 (17 Oct 2006)
Previous versions | rss
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Protein

Cilia- and flagella-associated protein 61

Gene

CFAP61

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

Annotation score:4 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

May regulate cilium motility through its role in the assembly of the axonemal radial spokes.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

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NHU2

<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 61Imported
<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:CFAP61Imported
Synonyms:C20orf26Imported
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 20

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:15872, CFAP61

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NHU2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000089101.17

<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, 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		26074

Open Targets

More...OpenTargetsi		ENSG00000089101

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25741

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NHU2, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CFAP61

Domain mapping of disease mutations (DMDM)

More...DMDMi		116241319

<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_00000794171 – 1237Cilia- and flagella-associated protein 61CuratedAdd BLAST1237

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NHU2

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

More...PaxDbi		Q8NHU2

PeptideAtlas

More...PeptideAtlasi		Q8NHU2

PRoteomics IDEntifications database

More...PRIDEi		Q8NHU2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73753 [Q8NHU2-1]
73754 [Q8NHU2-3]
73755 [Q8NHU2-4]
73756 [Q8NHU2-5]
73757 [Q8NHU2-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NHU2

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

More...PhosphoSitePlusi		Q8NHU2

<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		ENSG00000089101, Expressed in skeletal muscle tissue and 121 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NHU2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NHU2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000089101, Tissue enhanced (fallopian tube, heart muscle, pituitary gland, skeletal muscle, testis)

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

Protein-protein interaction databases

Protein interaction database and analysis system

More...IntActi		Q8NHU2, 1 interactor

Molecular INTeraction database

More...MINTi		Q8NHU2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000245957

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NHU2, 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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QSEC, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000004987

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_037088_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NHU2

Identification of Orthologs from Complete Genome Data

More...OMAi		WTHSNFN

Database of Orthologous Groups

More...OrthoDBi		38948at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NHU2

TreeFam database of animal gene trees

More...TreeFami		TF323897

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.50.50.60, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR038884, CFAP61
IPR032151, CFAP61_N
IPR036188, FAD/NAD-bd_sf

The PANTHER Classification System

More...PANTHERi		PTHR21178, PTHR21178, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF16092, DUF4821, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51905, SSF51905, 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 (5+)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 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. 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
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 5 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NHU2-1) [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
MSVLTSPRGK VEVVHCRRTE SQDVYCIKSL IRKFTCKLFG KLNIIYLLEK 
        60         70         80         90        100
ANLAVTLCND KEEIMAQATF LDYPNWNVAK QDDWVSVFRE LDSDIPCTPL 
       110        120        130        140        150
NTLFMHLFVA VDEYSVGCCK EILRTVYKAV PELHFIFLIV PSYMSLGSTL 
       160        170        180        190        200
ITVFDQVGNI PCLTYEEDFA VHICHRHSHY PQLHVRKARV EDHDDLMPIF 
       210        220        230        240        250
MRYDTILKET YGEYFLAELI EAQDEENHAV VCEVEGTAVG FMSVCSRVNM 
       260        270        280        290        300
QLLHECFDLG PFHGLCFPHP DDVLESPQDL SVRRSQDAEL RSSSQGSQKI 
       310        320        330        340        350
VEELQEPVSP DTMENIQGNI AREAASEEAL TAVQSGNVSE PEDIEKLSDI 
       360        370        380        390        400
STGYAQYHHV SSRSLASLVL PEEPVHFRPI YRGASAAFCI QLFCIDEKYE 
       410        420        430        440        450
ARSLDFMNFV FSLFSDKNFC VISLPHLTPE FFLIQNFVKM VPFNTCTLEQ 
       460        470        480        490        500
DLYVFHRAGL LKSINIRFAT LLDTPGVENL VSTLMLNKSI LEDLDRYNKA 
       510        520        530        540        550
RKDPDGTLLQ AFVAEVAEQI VGIAVIRNEM DIEYIRSHYN IEDFIYFSHH 
       560        570        580        590        600
QREEHGHMHH FALNPIFRHY TKFFLKEILR LGFKSCLYYR VYPKSREGKF 
       610        620        630        640        650
QNPYAHSLTS ALHYLVPVRP RRQIVYPLEK LGINAPSKAV SKDPMSYALN 
       660        670        680        690        700
HTNRKLTLEP KITVNAKIIV VGASSVGISF LETLVFCSHM KFNNLTLIST 
       710        720        730        740        750
HGLPGKKLLD TEQRKFLASD HCFNDKDYAL MSLCSWVNVV VGRMTGIDRA 
       760        770        780        790        800
AKHVVLSTDE IVPYDHLILC TGQQYQVPCP TEADISQHLT NREVPNSSQR 
       810        820        830        840        850
RYTGKVPCNH FTLNEEEDCF KALIWIRNNS ITTEGNIIVY GNTIDTYTTV 
       860        870        880        890        900
ETLLNLGVSG SRIHLVQPPP ASTITCINNY SVESAVADAL GAAGVTMYRD 
       910        920        930        940        950
AILAQWNDGL HPDPIYSASF TTPTKPFRLQ CSMFFSFCEK NVDYETFKAL 
       960        970        980        990       1000
NDACLVYDSR LVIDTNFHTN DIAIRAAGSL TKFSNRYYSN EWTHSNFSSK 
      1010       1020       1030       1040       1050
EIGFQLAAAM LHLFDPTLEP VTEPPANLDR LIPMYKGAKI QGGILPGSYH 
      1060       1070       1080       1090       1100
YLHIAKPAIP TPLEVQMAQP NYGLELVTGS AKNGTYFRIH INKYKMVETI 
      1110       1120       1130       1140       1150
TCLSREPFPA SNYIRLFGQH EQLLNNLCAR YDENLITDLY SYFTEPWCLA 
      1160       1170       1180       1190       1200
LFHDRFIDLR KELRQILASK EEEDLPSIEQ LAHQIEDEEI NPTEKPRQYL 
      1210       1220       1230 
KRVFEESIYK TLVERSTLDY LHYNRYHLPM YAWPGIV
Length:1,237
Mass (Da):141,349
Last modified:October 17, 2006 - 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:iF10E9802BFAC8956
GO
Isoform 3 (identifier: Q8NHU2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     463-470: SINIRFAT → NICLGRSS
     471-1237: Missing.

Show »
Length:470
Mass (Da):53,551
Checksum:i0DFF08A0D16B1034
GO
Isoform 4 (identifier: Q8NHU2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     343-402: Missing.

Show »
Length:1,177
Mass (Da):134,537
Checksum:iE5459E025C959DAE
GO
Isoform 5 (identifier: Q8NHU2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-644: Missing.
     835-844: GNIIVYGNTI → DGGRASVLFC
     845-1237: Missing.

Note: Created from a fragment entry and may await further characterization.Curated
Show »
Length:200
Mass (Da):22,433
Checksum:i4C38A05D39B1979C
GO
Isoform 6 (identifier: Q8NHU2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-644: Missing.
     933-964: MFFSFCEKNVDYETFKALNDACLVYDSRLVID → GAFFLGLTIICILPSLPFQLPWRYKWHSLIMV
     965-1237: Missing.

Show »
Length:320
Mass (Da):35,610
Checksum:iCF8979E3AE27B7B5
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W6E2F8W6E2_HUMAN
Cilia- and flagella-associated prot...
CFAP61
370Annotation 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>
A0A6I8PRQ8A0A6I8PRQ8_HUMAN
Cilia- and flagella-associated prot...
CFAP61
705Annotation 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>
A0A6I8PIN3A0A6I8PIN3_HUMAN
Cilia- and flagella-associated prot...
CFAP61
54Annotation 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>
C9JMV0C9JMV0_HUMAN
Cilia- and flagella-associated prot...
CFAP61
160Annotation 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>
C9J610C9J610_HUMAN
Cilia- and flagella-associated prot...
CFAP61
135Annotation 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>
H0Y3Y7H0Y3Y7_HUMAN
Cilia- and flagella-associated prot...
CFAP61
227Annotation 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>
C9JHE8C9JHE8_HUMAN
Cilia- and flagella-associated prot...
CFAP61
189Annotation 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>
C9JA66C9JA66_HUMAN
Cilia- and flagella-associated prot...
CFAP61
67Annotation 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>
F8WDF5F8WDF5_HUMAN
Cilia- and flagella-associated prot...
CFAP61
55Annotation 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>

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 conflicti650N → S in AAH31674 (PubMed:15489334).Curated1
Isoform 6 (identifier: Q8NHU2-6)
Sequence conflicti123L → P in BAB71452 (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_02798174P → R1 PublicationCorresponds to variant dbSNP:rs17852602Ensembl.1
Natural variantiVAR_027982254H → R. Corresponds to variant dbSNP:rs6075614Ensembl.1
Natural variantiVAR_027983369V → I1 PublicationCorresponds to variant dbSNP:rs6081901Ensembl.1
Natural variantiVAR_027984371P → L. Corresponds to variant dbSNP:rs6075628Ensembl.1
Natural variantiVAR_027985505D → E. Corresponds to variant dbSNP:rs7344530Ensembl.1
Natural variantiVAR_027986660P → L. Corresponds to variant dbSNP:rs6081930Ensembl.1
Natural variantiVAR_027987671V → I. Corresponds to variant dbSNP:rs6046740Ensembl.1
Natural variantiVAR_069396790T → P1 Publication1

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_0038021 – 644Missing in isoform 5 and isoform 6. 2 PublicationsAdd BLAST644
Alternative sequenceiVSP_003798343 – 402Missing in isoform 4. CuratedAdd BLAST60
Alternative sequenceiVSP_003799463 – 470SINIRFAT → NICLGRSS in isoform 3. 1 Publication8
Alternative sequenceiVSP_003800471 – 1237Missing in isoform 3. 1 PublicationAdd BLAST767
Alternative sequenceiVSP_003803835 – 844GNIIVYGNTI → DGGRASVLFC in isoform 5. 1 Publication10
Alternative sequenceiVSP_003804845 – 1237Missing in isoform 5. 1 PublicationAdd BLAST393
Alternative sequenceiVSP_013682933 – 964MFFSF…RLVID → GAFFLGLTIICILPSLPFQL PWRYKWHSLIMV in isoform 6. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_013683965 – 1237Missing in isoform 6. 1 PublicationAdd BLAST273

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
AK057364 mRNA Translation: BAB71452.1
AL117439 mRNA Translation: CAB55925.1
AL035454 Genomic DNA No translation available.
AL049648 Genomic DNA No translation available.
AL121721 Genomic DNA No translation available.
AL161658 Genomic DNA No translation available.
BC028708 mRNA Translation: AAH28708.2
BC031674 mRNA Translation: AAH31674.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33447.1 [Q8NHU2-1]
CCDS54452.1 [Q8NHU2-3]

NCBI Reference Sequences

More...RefSeqi		NP_001161288.1, NM_001167816.1 [Q8NHU2-3]
NP_056400.3, NM_015585.3 [Q8NHU2-1]
XP_005260746.1, XM_005260689.2 [Q8NHU2-1]
XP_011527515.1, XM_011529213.1 [Q8NHU2-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000245957; ENSP00000245957; ENSG00000089101 [Q8NHU2-1]
ENST00000377293; ENSP00000366508; ENSG00000089101 [Q8NHU2-5]
ENST00000377306; ENSP00000366521; ENSG00000089101 [Q8NHU2-3]
ENST00000377308; ENSP00000366523; ENSG00000089101 [Q8NHU2-6]
ENST00000389656; ENSP00000374307; ENSG00000089101 [Q8NHU2-5]
ENST00000451767; ENSP00000414537; ENSG00000089101 [Q8NHU2-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26074

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26074

UCSC genome browser

More...UCSCi		uc002wru.4, human [Q8NHU2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AK057364 mRNA Translation: BAB71452.1
AL117439 mRNA Translation: CAB55925.1
AL035454 Genomic DNA No translation available.
AL049648 Genomic DNA No translation available.
AL121721 Genomic DNA No translation available.
AL161658 Genomic DNA No translation available.
BC028708 mRNA Translation: AAH28708.2
BC031674 mRNA Translation: AAH31674.1
CCDSiCCDS33447.1 [Q8NHU2-1]
CCDS54452.1 [Q8NHU2-3]
RefSeqiNP_001161288.1, NM_001167816.1 [Q8NHU2-3]
NP_056400.3, NM_015585.3 [Q8NHU2-1]
XP_005260746.1, XM_005260689.2 [Q8NHU2-1]
XP_011527515.1, XM_011529213.1 [Q8NHU2-3]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

IntActiQ8NHU2, 1 interactor
MINTiQ8NHU2
STRINGi9606.ENSP00000245957

PTM databases

iPTMnetiQ8NHU2
PhosphoSitePlusiQ8NHU2

Genetic variation databases

BioMutaiCFAP61
DMDMi116241319

Proteomic databases

MassIVEiQ8NHU2
PaxDbiQ8NHU2
PeptideAtlasiQ8NHU2
PRIDEiQ8NHU2
ProteomicsDBi73753 [Q8NHU2-1]
73754 [Q8NHU2-3]
73755 [Q8NHU2-4]
73756 [Q8NHU2-5]
73757 [Q8NHU2-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2276, 63 antibodies

Genome annotation databases

EnsembliENST00000245957; ENSP00000245957; ENSG00000089101 [Q8NHU2-1]
ENST00000377293; ENSP00000366508; ENSG00000089101 [Q8NHU2-5]
ENST00000377306; ENSP00000366521; ENSG00000089101 [Q8NHU2-3]
ENST00000377308; ENSP00000366523; ENSG00000089101 [Q8NHU2-6]
ENST00000389656; ENSP00000374307; ENSG00000089101 [Q8NHU2-5]
ENST00000451767; ENSP00000414537; ENSG00000089101 [Q8NHU2-3]
GeneIDi26074
KEGGihsa:26074
UCSCiuc002wru.4, human [Q8NHU2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26074
DisGeNETi26074

GeneCards: human genes, protein and diseases

More...GeneCardsi		CFAP61
HGNCiHGNC:15872, CFAP61
HPAiENSG00000089101, Tissue enhanced (fallopian tube, heart muscle, pituitary gland, skeletal muscle, testis)
neXtProtiNX_Q8NHU2
OpenTargetsiENSG00000089101
PharmGKBiPA25741
VEuPathDBiHostDB:ENSG00000089101.17

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QSEC, Eukaryota
GeneTreeiENSGT00390000004987
HOGENOMiCLU_037088_0_0_1
InParanoidiQ8NHU2
OMAiWTHSNFN
OrthoDBi38948at2759
PhylomeDBiQ8NHU2
TreeFamiTF323897

Enzyme and pathway databases

PathwayCommonsiQ8NHU2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		26074, 1 hit in 866 CRISPR screens

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

More...ChiTaRSi		CFAP61, human

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

More...GenomeRNAii		26074
PharosiQ8NHU2, Tdark

Protein Ontology

More...PROi		PR:Q8NHU2
RNActiQ8NHU2, protein

Gene expression databases

BgeeiENSG00000089101, Expressed in skeletal muscle tissue and 121 other tissues
ExpressionAtlasiQ8NHU2, baseline and differential
GenevisibleiQ8NHU2, HS

Family and domain databases

Gene3Di3.50.50.60, 2 hits
InterProiView protein in InterPro
IPR038884, CFAP61
IPR032151, CFAP61_N
IPR036188, FAD/NAD-bd_sf
PANTHERiPTHR21178, PTHR21178, 1 hit
PfamiView protein in Pfam
PF16092, DUF4821, 1 hit
SUPFAMiSSF51905, SSF51905, 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 nameiCFA61_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: Q8NHU2
Secondary accession number(s): A6NHA1
, Q5JXV4, Q5TE18, Q8N5R9, Q96M59, Q9BQL2, Q9H127, Q9H128, Q9NQH4, Q9UFV8, Q9Y4V7
<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: February 28, 2003
Last sequence update: October 17, 2006
Last modified: February 10, 2021
This is version 137 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

Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
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