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UniProtKB - Q6TDU7 (CASC1_HUMAN)

Entry version 110 (10 Feb 2021)
Sequence version 2 (30 Nov 2010)
Previous versions | rss
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Protein

Dynein intermediate chain CFAP94, axonemal

Gene

CFAP94

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 protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

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

Via its association with the multisubunit axonemal dynein complex, is potentially involved in the regulation of cilia function. May also act as a cell cycle regulator.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6TDU7

<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:
Dynein intermediate chain CFAP94, axonemalCurated
Alternative name(s):
Cancer susceptibility candidate gene 1 protein
Short name:
Protein CASC1
Cilia and flagella associated protein 94Imported
Lung adenoma susceptibility 1-like protein
Protein phosphatase 1 regulatory subunit 54
<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:CFAP94Imported
Synonyms:CASC1, LAS1, PPP1R54
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:29599, CFAP94

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		616906, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6TDU7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000118307.18

<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

<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		55259

Open Targets

More...OpenTargetsi		ENSG00000118307

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134895953

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6TDU7, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CASC1

Domain mapping of disease mutations (DMDM)

More...DMDMi		313104089

<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_00003327311 – 716Dynein intermediate chain CFAP94, axonemalAdd BLAST716

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated. Ubiquitination leads to its degradation through the 26S proteasome. Ubiquitin-proteasome-mediated CFAP94 degradation occurs in mitosis.By similarity

Keywords - PTMi

Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6TDU7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6TDU7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6TDU7

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

More...PaxDbi		Q6TDU7

PeptideAtlas

More...PeptideAtlasi		Q6TDU7

PRoteomics IDEntifications database

More...PRIDEi		Q6TDU7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		27287
67386 [Q6TDU7-1]
67387 [Q6TDU7-2]
67388 [Q6TDU7-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6TDU7

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

More...PhosphoSitePlusi		Q6TDU7

<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		ENSG00000118307, Expressed in bronchial epithelial cell and 138 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6TDU7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6TDU7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000118307, Tissue enhanced (fallopian tube, pituitary gland, testis)

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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of the multisubunit axonemal dynein complex formed at least of two heavy chains and a number of intermediate and light chains.

Interacts with tubulin. Associates with microtubule.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120550, 9 interactors

Protein interaction database and analysis system

More...IntActi		Q6TDU7, 7 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000379310

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6TDU7, protein

<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

More...SMRi		Q6TDU7

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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi5 – 8Poly-Lys4
Compositional biasi20 – 88Glu-richAdd BLAST69

<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 CFAP94 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QQM9, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000004708

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6TDU7

Database of Orthologous Groups

More...OrthoDBi		526857at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6TDU7

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR023247, IC97/Casc1-like
IPR031826, IC97/Casc1_N

The PANTHER Classification System

More...PANTHERi		PTHR20929, PTHR20929, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15927, Casc1_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR02043, CANCERSCCP1

<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 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6TDU7-1) [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
MSGSKKKKVT KAERLKLLQE EEERRLKEEE EARLKYEKEE MERLEIQRIE 
        60         70         80         90        100
KEKWHRLEAK DLERRNEELE ELYLLERCFP EAEKLKQETK LLSQWKHYIQ 
       110        120        130        140        150
CDGSPDPSVA QEMNTFISLW KEKTNETFEE VIEKSKVVLN LIEKLKFILL 
       160        170        180        190        200
ETPPCDLQDK NIIQYQESIL QLQELLHLKF GVATEILLKQ ASTLADLDSG 
       210        220        230        240        250
NMEKVIKDEN VTLYVWANLK KNPRHRSVRF SETQIGFEIP RILATSDIAV 
       260        270        280        290        300
RLLHTHYDHV SALHPVSTPS KEYTSAVTEL VKDDVKNVEK AISKEVEEES 
       310        320        330        340        350
KQQERGSHLI QEEEIKVEEE QGDIEVKMSS AEEESEAIKC EREMKVLSET 
       360        370        380        390        400
VSAAQLLLVE NSSEKPDFFE DNVVDLCQFT TLGGVYHLDI LELPPQCKPV 
       410        420        430        440        450
KGWMIVEILK EGLQKYTYPP ETTEEFETEN AFPPIEVTLE VHENVIFFED 
       460        470        480        490        500
PVVVRWDAEG KHWRTDGISN VSYKPKERLV TFSLDTFGPV TLIQDAHINM 
       510        520        530        540        550
PYQSWELRPL DVNKVLLTVT TVFTEIQIQI KENLCMLSSI KLKDKKHISI 
       560        570        580        590        600
LEGTWMTPIP FIIALKEAGL NIFPTRHSHF YVIINNKVPL VEVKAYRQMA 
       610        620        630        640        650
LLSSAFAFGW SKWNLLCNST KVVFKVREHL TEACTENPNW ALLMFSGDRA 
       660        670        680        690        700
QRLKIKEESE AFSEALKEET EFHSTLYHMV KDFASEEAME KVRSSNCQFV 
       710 
NSVCHMLLST RLLSYS
Length:716
Mass (Da):83,160
Last modified:November 30, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iBDDCE21CB7E701B6
GO
Isoform 2 (identifier: Q6TDU7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: Missing.

Show »
Length:676
Mass (Da):78,271
Checksum:i4BD6965C94C15D13
GO
Isoform 3 (identifier: Q6TDU7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRQTGGGATTDSASPVLNNVIKSQSYFTAKRVGLGNNSYLGVGRPSSQQWLSLPGPGGQGPKAKK
     626-626: V → W
     627-716: Missing.

Show »
Length:690
Mass (Da):79,372
Checksum:i953D0341CA7037B8
GO
Isoform 4 (identifier: Q6TDU7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MSGSKKKKVTKAERLKLLQEEEERRLKEEEEARLKYEKEEMERLEIQRIEKEKWHRLEAK → M

Show »
Length:657
Mass (Da):75,797
Checksum:i9A5D380A7C20A648
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W8F9F8W8F9_HUMAN
Cilia and flagella associated prote...
CFAP94
722Annotation score:

Annotation score:2 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>
H0YJM7H0YJM7_HUMAN
Cilia and flagella associated prote...
CFAP94
548Annotation 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>
G3V3G6G3V3G6_HUMAN
Cilia and flagella associated prote...
CFAP94
92Annotation 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>
B4DY27B4DY27_HUMAN
Cilia and flagella associated prote...
CFAP94
455Annotation 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>
A0A6Q8PG26A0A6Q8PG26_HUMAN
Cilia and flagella associated prote...
CFAP94
559Annotation 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>
G3V2J3G3V2J3_HUMAN
Dynein intermediate chain CFAP94, a...
CFAP94
35Annotation 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>
G3V333G3V333_HUMAN
Dynein intermediate chain CFAP94, a...
CFAP94
45Annotation 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 BAA91908 differs from that shown. Reason: Frameshift.Curated
The sequence BAA91908 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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_04300833R → S1 PublicationCorresponds to variant dbSNP:rs10842496Ensembl.1
Natural variantiVAR_062232633A → E4 PublicationsCorresponds to variant dbSNP:rs859146Ensembl.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_0469171 – 60MSGSK…RLEAK → M in isoform 4. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_0333801 – 40Missing in isoform 2. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_0333811M → MRQTGGGATTDSASPVLNNV IKSQSYFTAKRVGLGNNSYL GVGRPSSQQWLSLPGPGGQG PKAKK in isoform 3. 1 Publication1
Alternative sequenceiVSP_033382626V → W in isoform 3. 1 Publication1
Alternative sequenceiVSP_033383627 – 716Missing in isoform 3. 1 PublicationAdd BLAST90

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
AY423543 mRNA Translation: AAQ93499.1
AK001783 mRNA Translation: BAA91908.1 Sequence problems.
AK297998 mRNA Translation: BAG60304.1
AC023510 Genomic DNA No translation available.
AC092794 Genomic DNA No translation available.
CH471094 Genomic DNA Translation: EAW96509.1
BC028415 mRNA Translation: AAH28415.1
BC047415 mRNA Translation: AAH47415.2
BC057795 mRNA Translation: AAH57795.1
BC117281 mRNA Translation: AAI17282.2
BC117283 mRNA Translation: AAI17284.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41762.1 [Q6TDU7-1]
CCDS41763.1 [Q6TDU7-3]
CCDS55810.1 [Q6TDU7-2]
CCDS55811.1 [Q6TDU7-4]

NCBI Reference Sequences

More...RefSeqi		NP_001076441.1, NM_001082972.2 [Q6TDU7-3]
NP_001076442.1, NM_001082973.2 [Q6TDU7-1]
NP_001191030.1, NM_001204101.2 [Q6TDU7-4]
NP_001191031.1, NM_001204102.2 [Q6TDU7-2]
NP_001306906.1, NM_001319977.1
NP_001306907.1, NM_001319978.1 [Q6TDU7-2]
NP_060742.3, NM_018272.4
XP_016875050.1, XM_017019561.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000320267; ENSP00000313141; ENSG00000118307 [Q6TDU7-1]
ENST00000354189; ENSP00000346126; ENSG00000118307 [Q6TDU7-3]
ENST00000395990; ENSP00000379313; ENSG00000118307 [Q6TDU7-2]
ENST00000545133; ENSP00000437373; ENSG00000118307 [Q6TDU7-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55259

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55259

UCSC genome browser

More...UCSCi		uc001rgj.4, human [Q6TDU7-1]

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
AY423543 mRNA Translation: AAQ93499.1
AK001783 mRNA Translation: BAA91908.1 Sequence problems.
AK297998 mRNA Translation: BAG60304.1
AC023510 Genomic DNA No translation available.
AC092794 Genomic DNA No translation available.
CH471094 Genomic DNA Translation: EAW96509.1
BC028415 mRNA Translation: AAH28415.1
BC047415 mRNA Translation: AAH47415.2
BC057795 mRNA Translation: AAH57795.1
BC117281 mRNA Translation: AAI17282.2
BC117283 mRNA Translation: AAI17284.2
CCDSiCCDS41762.1 [Q6TDU7-1]
CCDS41763.1 [Q6TDU7-3]
CCDS55810.1 [Q6TDU7-2]
CCDS55811.1 [Q6TDU7-4]
RefSeqiNP_001076441.1, NM_001082972.2 [Q6TDU7-3]
NP_001076442.1, NM_001082973.2 [Q6TDU7-1]
NP_001191030.1, NM_001204101.2 [Q6TDU7-4]
NP_001191031.1, NM_001204102.2 [Q6TDU7-2]
NP_001306906.1, NM_001319977.1
NP_001306907.1, NM_001319978.1 [Q6TDU7-2]
NP_060742.3, NM_018272.4
XP_016875050.1, XM_017019561.1

3D structure databases

SMRiQ6TDU7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120550, 9 interactors
IntActiQ6TDU7, 7 interactors
STRINGi9606.ENSP00000379310

PTM databases

iPTMnetiQ6TDU7
PhosphoSitePlusiQ6TDU7

Genetic variation databases

BioMutaiCASC1
DMDMi313104089

Proteomic databases

jPOSTiQ6TDU7
MassIVEiQ6TDU7
MaxQBiQ6TDU7
PaxDbiQ6TDU7
PeptideAtlasiQ6TDU7
PRIDEiQ6TDU7
ProteomicsDBi27287
67386 [Q6TDU7-1]
67387 [Q6TDU7-2]
67388 [Q6TDU7-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		50635, 33 antibodies

The DNASU plasmid repository

More...DNASUi		55259

Genome annotation databases

EnsembliENST00000320267; ENSP00000313141; ENSG00000118307 [Q6TDU7-1]
ENST00000354189; ENSP00000346126; ENSG00000118307 [Q6TDU7-3]
ENST00000395990; ENSP00000379313; ENSG00000118307 [Q6TDU7-2]
ENST00000545133; ENSP00000437373; ENSG00000118307 [Q6TDU7-4]
GeneIDi55259
KEGGihsa:55259
UCSCiuc001rgj.4, human [Q6TDU7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55259
DisGeNETi55259

GeneCards: human genes, protein and diseases

More...GeneCardsi		CFAP94
HGNCiHGNC:29599, CFAP94
HPAiENSG00000118307, Tissue enhanced (fallopian tube, pituitary gland, testis)
MIMi616906, gene
neXtProtiNX_Q6TDU7
OpenTargetsiENSG00000118307
PharmGKBiPA134895953
VEuPathDBiHostDB:ENSG00000118307.18

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QQM9, Eukaryota
GeneTreeiENSGT00390000004708
InParanoidiQ6TDU7
OrthoDBi526857at2759
PhylomeDBiQ6TDU7

Enzyme and pathway databases

PathwayCommonsiQ6TDU7

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55259, 9 hits in 870 CRISPR screens

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

More...ChiTaRSi		CASC1, human

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

More...GenomeRNAii		55259
PharosiQ6TDU7, Tbio

Protein Ontology

More...PROi		PR:Q6TDU7
RNActiQ6TDU7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000118307, Expressed in bronchial epithelial cell and 138 other tissues
ExpressionAtlasiQ6TDU7, baseline and differential
GenevisibleiQ6TDU7, HS

Family and domain databases

InterProiView protein in InterPro
IPR023247, IC97/Casc1-like
IPR031826, IC97/Casc1_N
PANTHERiPTHR20929, PTHR20929, 1 hit
PfamiView protein in Pfam
PF15927, Casc1_N, 1 hit
PRINTSiPR02043, CANCERSCCP1

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 nameiCASC1_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: Q6TDU7
Secondary accession number(s): B4DNP2
, F5H6T6, Q17RL2, Q4G171, Q5U5K5, Q9NV50
<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: April 29, 2008
Last sequence update: November 30, 2010
Last modified: February 10, 2021
This is version 110 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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