UniProtKB - Q6TDU7 (CASC1_HUMAN)
Protein
Dynein intermediate chain CFAP94, axonemal
Gene
CFAP94
Organism
Homo sapiens (Human)
Status
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
GO - Molecular functioni
- beta-tubulin binding Source: UniProtKB
- microtubule binding Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q6TDU7 |
Names & Taxonomyi
Protein namesi | Recommended name: Dynein intermediate chain CFAP94, axonemalCuratedAlternative 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 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000118307.18 |
HGNCi | HGNC:29599, CFAP94 |
MIMi | 616906, gene |
neXtProti | NX_Q6TDU7 |
Subcellular locationi
Cytoskeleton
- axonemal dynein complex Source: UniProtKB
Other locations
- cilium Source: UniProtKB
Keywords - Cellular componenti
Cell projection, CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 55259 |
OpenTargetsi | ENSG00000118307 |
PharmGKBi | PA134895953 |
Miscellaneous databases
Pharosi | Q6TDU7, Tbio |
Polymorphism and mutation databases
BioMutai | CASC1 |
DMDMi | 313104089 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000332731 | 1 – 716 | Dynein intermediate chain CFAP94, axonemalAdd BLAST | 716 |
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 conjugationProteomic databases
jPOSTi | Q6TDU7 |
MassIVEi | Q6TDU7 |
MaxQBi | Q6TDU7 |
PaxDbi | Q6TDU7 |
PeptideAtlasi | Q6TDU7 |
PRIDEi | Q6TDU7 |
ProteomicsDBi | 27287 67386 [Q6TDU7-1] 67387 [Q6TDU7-2] 67388 [Q6TDU7-3] |
PTM databases
iPTMneti | Q6TDU7 |
PhosphoSitePlusi | Q6TDU7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000118307, Expressed in bronchial epithelial cell and 138 other tissues |
ExpressionAtlasi | Q6TDU7, baseline and differential |
Genevisiblei | Q6TDU7, HS |
Organism-specific databases
HPAi | ENSG00000118307, Tissue enhanced (fallopian tube, pituitary gland, testis) |
Interactioni
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 similarityBinary interactionsi
Hide detailsQ6TDU7
With | #Exp. | IntAct |
---|---|---|
ABI2 - isoform 2 [Q9NYB9-2] | 3 | EBI-5235378,EBI-11096309 |
NME7 [Q9Y5B8] | 3 | EBI-5235378,EBI-744782 |
GO - Molecular functioni
- beta-tubulin binding Source: UniProtKB
- microtubule binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 120550, 8 interactors |
IntActi | Q6TDU7, 7 interactors |
STRINGi | 9606.ENSP00000379310 |
Miscellaneous databases
RNActi | Q6TDU7, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 5 – 8 | Poly-Lys | 4 | |
Compositional biasi | 20 – 88 | Glu-richAdd BLAST | 69 |
Sequence similaritiesi
Belongs to the CFAP94 family.Curated
Phylogenomic databases
eggNOGi | ENOG502QQM9, Eukaryota |
GeneTreei | ENSGT00390000004708 |
InParanoidi | Q6TDU7 |
OrthoDBi | 526857at2759 |
PhylomeDBi | Q6TDU7 |
Family and domain databases
InterProi | View protein in InterPro IPR023247, Casc1 IPR031826, Casc1_N |
PANTHERi | PTHR20929, PTHR20929, 1 hit |
Pfami | View protein in Pfam PF15927, Casc1_N, 1 hit |
PRINTSi | PR02043, CANCERSCCP1 |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8W8F9 | F8W8F9_HUMAN | Cilia and flagella associated prote... | CFAP94 | 722 | Annotation score: | ||
H0YJM7 | H0YJM7_HUMAN | Cilia and flagella associated prote... | CFAP94 | 548 | Annotation score: | ||
G3V3G6 | G3V3G6_HUMAN | Cilia and flagella associated prote... | CFAP94 | 92 | Annotation score: | ||
B4DY27 | B4DY27_HUMAN | Cilia and flagella associated prote... | CFAP94 | 455 | Annotation score: | ||
G3V2J3 | G3V2J3_HUMAN | Dynein intermediate chain CFAP94, a... | CFAP94 | 35 | Annotation score: | ||
G3V333 | G3V333_HUMAN | Dynein intermediate chain CFAP94, a... | CFAP94 | 45 | Annotation score: | ||
A0A6Q8PG26 | A0A6Q8PG26_HUMAN | Dynein intermediate chain CFAP94, a... | CFAP94 | 559 | Annotation score: |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043008 | 33 | R → S1 PublicationCorresponds to variant dbSNP:rs10842496Ensembl. | 1 | |
Natural variantiVAR_062232 | 633 | A → E4 PublicationsCorresponds to variant dbSNP:rs859146Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046917 | 1 – 60 | MSGSK…RLEAK → M in isoform 4. 1 PublicationAdd BLAST | 60 | |
Alternative sequenceiVSP_033380 | 1 – 40 | Missing in isoform 2. 1 PublicationAdd BLAST | 40 | |
Alternative sequenceiVSP_033381 | 1 | M → MRQTGGGATTDSASPVLNNV IKSQSYFTAKRVGLGNNSYL GVGRPSSQQWLSLPGPGGQG PKAKK in isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_033382 | 626 | V → W in isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_033383 | 627 – 716 | Missing in isoform 3. 1 PublicationAdd BLAST | 90 |
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 |
CCDSi | CCDS41762.1 [Q6TDU7-1] CCDS41763.1 [Q6TDU7-3] CCDS55810.1 [Q6TDU7-2] CCDS55811.1 [Q6TDU7-4] |
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
Ensembli | ENST00000320267; ENSP00000313141; ENSG00000118307 [Q6TDU7-1] ENST00000354189; ENSP00000346126; ENSG00000118307 [Q6TDU7-3] ENST00000395990; ENSP00000379313; ENSG00000118307 [Q6TDU7-2] ENST00000545133; ENSP00000437373; ENSG00000118307 [Q6TDU7-4] |
GeneIDi | 55259 |
KEGGi | hsa:55259 |
UCSCi | uc001rgj.4, human [Q6TDU7-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS41762.1 [Q6TDU7-1] CCDS41763.1 [Q6TDU7-3] CCDS55810.1 [Q6TDU7-2] CCDS55811.1 [Q6TDU7-4] |
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 |
3D structure databases
SMRi | Q6TDU7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120550, 8 interactors |
IntActi | Q6TDU7, 7 interactors |
STRINGi | 9606.ENSP00000379310 |
PTM databases
iPTMneti | Q6TDU7 |
PhosphoSitePlusi | Q6TDU7 |
Polymorphism and mutation databases
BioMutai | CASC1 |
DMDMi | 313104089 |
Proteomic databases
jPOSTi | Q6TDU7 |
MassIVEi | Q6TDU7 |
MaxQBi | Q6TDU7 |
PaxDbi | Q6TDU7 |
PeptideAtlasi | Q6TDU7 |
PRIDEi | Q6TDU7 |
ProteomicsDBi | 27287 67386 [Q6TDU7-1] 67387 [Q6TDU7-2] 67388 [Q6TDU7-3] |
Protocols and materials databases
Antibodypediai | 50635, 33 antibodies |
DNASUi | 55259 |
Genome annotation databases
Ensembli | ENST00000320267; ENSP00000313141; ENSG00000118307 [Q6TDU7-1] ENST00000354189; ENSP00000346126; ENSG00000118307 [Q6TDU7-3] ENST00000395990; ENSP00000379313; ENSG00000118307 [Q6TDU7-2] ENST00000545133; ENSP00000437373; ENSG00000118307 [Q6TDU7-4] |
GeneIDi | 55259 |
KEGGi | hsa:55259 |
UCSCi | uc001rgj.4, human [Q6TDU7-1] |
Organism-specific databases
CTDi | 55259 |
DisGeNETi | 55259 |
EuPathDBi | HostDB:ENSG00000118307.18 |
GeneCardsi | CFAP94 |
HGNCi | HGNC:29599, CFAP94 |
HPAi | ENSG00000118307, Tissue enhanced (fallopian tube, pituitary gland, testis) |
MIMi | 616906, gene |
neXtProti | NX_Q6TDU7 |
OpenTargetsi | ENSG00000118307 |
PharmGKBi | PA134895953 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QQM9, Eukaryota |
GeneTreei | ENSGT00390000004708 |
InParanoidi | Q6TDU7 |
OrthoDBi | 526857at2759 |
PhylomeDBi | Q6TDU7 |
Enzyme and pathway databases
PathwayCommonsi | Q6TDU7 |
Miscellaneous databases
BioGRID-ORCSi | 55259, 9 hits in 839 CRISPR screens |
ChiTaRSi | CASC1, human |
GenomeRNAii | 55259 |
Pharosi | Q6TDU7, Tbio |
PROi | PR:Q6TDU7 |
RNActi | Q6TDU7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000118307, Expressed in bronchial epithelial cell and 138 other tissues |
ExpressionAtlasi | Q6TDU7, baseline and differential |
Genevisiblei | Q6TDU7, HS |
Family and domain databases
InterProi | View protein in InterPro IPR023247, Casc1 IPR031826, Casc1_N |
PANTHERi | PTHR20929, PTHR20929, 1 hit |
Pfami | View protein in Pfam PF15927, Casc1_N, 1 hit |
PRINTSi | PR02043, CANCERSCCP1 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CASC1_HUMAN | |
Accessioni | Q6TDU7Primary (citable) accession number: Q6TDU7 Secondary accession number(s): B4DNP2 Q9NV50 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 29, 2008 |
Last sequence update: | November 30, 2010 | |
Last modified: | December 2, 2020 | |
This is version 109 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations