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Protein

Coiled-coil domain-containing protein 141

Gene

CCDC141

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Plays a critical role in radial migration and centrosomal function.By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 141
Alternative name(s):
Coiled-coil protein associated with myosin II and DISC11 Publication
Gene namesi
Name:CCDC141
Synonyms:CAMDI1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:26821. CCDC141.

Subcellular locationi

  • Cytoplasm By similarity
  • Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity

  • Note: Co-localized with DISC1 at/around the centrosome. Localizes to the centrosome, at least in part, in a DISC1-dependent manner.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162381449.

Polymorphism and mutation databases

BioMutaiCCDC141.
DMDMi74758754.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14501450Coiled-coil domain-containing protein 141PRO_0000317296Add
BLAST

Proteomic databases

EPDiQ6ZP82.
PaxDbiQ6ZP82.
PRIDEiQ6ZP82.

PTM databases

iPTMnetiQ6ZP82.
PhosphoSiteiQ6ZP82.

Expressioni

Gene expression databases

BgeeiQ6ZP82.
CleanExiHS_CCDC141.
ExpressionAtlasiQ6ZP82. baseline and differential.
GenevisibleiQ6ZP82. HS.

Organism-specific databases

HPAiHPA012718.

Interactioni

Subunit structurei

Interacts with DISC1. Interacts preferentially with phosphorylated forms of myosin regulatory light chain (MRLC).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
DISC1Q9NRI55EBI-928795,EBI-529989

Protein-protein interaction databases

BioGridi130000. 1 interaction.
IntActiQ6ZP82. 2 interactions.
STRINGi9606.ENSP00000395995.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1409 – 145042Ig-likeAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili642 – 70665Sequence analysisAdd
BLAST
Coiled coili758 – 78326Sequence analysisAdd
BLAST
Coiled coili861 – 970110Sequence analysisAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Immunoglobulin domain

Phylogenomic databases

eggNOGiENOG410IFKI. Eukaryota.
ENOG410XSUV. LUCA.
GeneTreeiENSGT00440000038972.
HOGENOMiHOG000111390.
InParanoidiQ6ZP82.
OMAiECTSPDD.
OrthoDBiEOG7DNNT9.
TreeFamiTF331580.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR002017. Spectrin_repeat.
[Graphical view]
PfamiPF00435. Spectrin. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZP82-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MSSQGSPSVA LSTTTVSSVA VQAGDSKIVI AVIKCGKWVQ LQLAESQPNL
60 70 80 90 100
LEIGSSQDET KKLLHDHELL LAKLKALEDR VWELLQEADK TAEENKDQSQ
110 120 130 140 150
VYDAMAETLG EAWAALVSML ERRTELLRLT SEFFENALEF AIKIDQAEDF
160 170 180 190 200
LQNTHEFESA ESLKSLLQLH EHHTKELLER SLALLNKSQQ LTDFIEKFKC
210 220 230 240 250
EGPNVNPELT QGAHSSCLKV DRLLELLQDR RRQLDKYLKQ QWQELSQVLQ
260 270 280 290 300
ICQWDQQENQ VTCWFQKTIR NLQEQSLGSS LSDNEDRIHK QEELIIKAKE
310 320 330 340 350
WNSAVEKLKS EALRILLSKD YVEKEHLQLS HQKLSQLQEE FGQLMVERNT
360 370 380 390 400
WLKKANEFFN SANKAFDVLG RVEAYLKLLK SEGLSLAVLA VRHEELHRKI
410 420 430 440 450
KDCTTDALQK GQTLISQVDS CSSQVSGIHE MMGCIKRRVD HLTEQCSAHK
460 470 480 490 500
EYALKKQQLT ASVEGYLRKV EMSIQKISPV LSNAMDVGST RSESEKILNK
510 520 530 540 550
YLELDIQAKE TSHELEAAAK TMMEKNEFVS DEMVSLSSKA RWLAEELNLF
560 570 580 590 600
GQSIDYRSQV LQTYVAFLKS SEEVEMQFQS LKEFYETEIP QKEQDDAKAK
610 620 630 640 650
HCSDSAEKQW QLFLKKSFIT QDLGLEFLNL INMAKENEIL DVKNEVYLMK
660 670 680 690 700
NTMENQKAER EELSLLRLAW QLKATESKPG KQQWAAFKEQ LKKTSHNLKL
710 720 730 740 750
LQEALMPVSA LDLGGSLQFI LDLRQKWNDM KPQFQQLNDE VQYIMKESEE
760 770 780 790 800
LTGRGAPVKE KSQQLKDLIH FHQKQKERIQ DYEDILYKVV QFHQVKEELG
810 820 830 840 850
RLIKSRELEF VEQPKELGDA HDVQIHLRCS QEKQARVDHL HRLALSLGVD
860 870 880 890 900
IISSVQRPHC SNVSAKNLQQ QLELLEEDSM KWRAKAEEYG RTLSRSVEYC
910 920 930 940 950
AMRDEINELK DSFKDIKKKF NNLKFNYTKK NEKSRNLKAL KYQIQQVDMY
960 970 980 990 1000
AEKMQALKRK MEKVSNKTSD SFLNYPSDKV NVLLEVMKDL QKHVDDFDKV
1010 1020 1030 1040 1050
VTDYKKNLDL TEHFQEVIEE CHFWYEDASA TVVRVGKYST ECKTKEAVKI
1060 1070 1080 1090 1100
LHQQFNKFIA PSVPQQEERI QEATDLAQHL YGLEEGQKYI EKIVTKHKEV
1110 1120 1130 1140 1150
LESVTELCES LTELEEKLKQ GDVLKMNPNL EDFHYDYIDL LKEPAKNKQT
1160 1170 1180 1190 1200
IFNEERNKGQ VQVADLLGIN GTGEERLPQD LKVSTDKEGG VQDLLLPEDM
1210 1220 1230 1240 1250
LSGEEYECVS PDDISLPPLP GSPESPLAPS DMEVEEPVSS SLSLHISSYG
1260 1270 1280 1290 1300
VQAGTSSPGD AQESVLPPPV AFADACNDKR ETFSSHFERP YLQFKAEPPL
1310 1320 1330 1340 1350
TSRGFVEKST ALHRISAEHP ESMMSEVHER ALQQHPQAQG GLLETREKMH
1360 1370 1380 1390 1400
ADNNFTKTQD RLHASSDAFS GLRFQSGTSR GYQRQMVPRE EIKSTSAKSS
1410 1420 1430 1440 1450
VVSLADQAPN FSRLLSNVTV MEGSPVTLEV EVTGFPEPTL TWWVAYNDKP
Note: No experimental confirmation available. Gene prediction based on EST data.
Length:1,450
Mass (Da):166,261
Last modified:November 26, 2014 - v2
Checksum:iB2C38E3A4B16FA86
GO
Isoform 2 (identifier: Q6ZP82-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1443-1450: WVAYNDKP → YKKGQKLSAD...VSLMYWLLTQ

Show »
Length:1,530
Mass (Da):175,067
Checksum:iF2F1CA3F2791A40B
GO

Sequence cautioni

The sequence AAI15379.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAX88845.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence BAC04869.1 differs from that shown.Contaminating sequence.Curated
The sequence BAC04869.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC85242.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti828 – 8281R → W Reduced affinity for MRLC and impairs cortical migration.
Corresponds to variant rs1298830 [ dbSNP | Ensembl ].
VAR_047904
Natural varianti935 – 9351R → W.
Corresponds to variant rs17362588 [ dbSNP | Ensembl ].
VAR_047905
Natural varianti1170 – 11701N → S.
Corresponds to variant rs13419085 [ dbSNP | Ensembl ].
VAR_047906

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1443 – 14508WVAYNDKP → YKKGQKLSADGHLQVLHKET RHSVFIPKVCKADAGLYVAR AQNSSGALSSNVILHVTGNC RLPITRVNWITLCVVYVSVS LMYWLLTQ in isoform 2. 2 PublicationsVSP_035968

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC023270 Genomic DNA. Translation: AAX88845.1. Sequence problems.
AC093792 Genomic DNA. No translation available.
AC092640 Genomic DNA. No translation available.
CH471058 Genomic DNA. Translation: EAX11011.1.
AK096821 mRNA. Translation: BAC04869.1. Sequence problems.
AK129847 mRNA. Translation: BAC85242.1. Different initiation.
BC115378 mRNA. Translation: AAI15379.1. Different initiation.
RefSeqiNP_775919.3. NM_173648.3. [Q6ZP82-2]
UniGeneiHs.324341.

Genome annotation databases

EnsembliENST00000420890; ENSP00000395995; ENSG00000163492. [Q6ZP82-2]
GeneIDi285025.
KEGGihsa:285025.
UCSCiuc002une.2. human. [Q6ZP82-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC023270 Genomic DNA. Translation: AAX88845.1. Sequence problems.
AC093792 Genomic DNA. No translation available.
AC092640 Genomic DNA. No translation available.
CH471058 Genomic DNA. Translation: EAX11011.1.
AK096821 mRNA. Translation: BAC04869.1. Sequence problems.
AK129847 mRNA. Translation: BAC85242.1. Different initiation.
BC115378 mRNA. Translation: AAI15379.1. Different initiation.
RefSeqiNP_775919.3. NM_173648.3. [Q6ZP82-2]
UniGeneiHs.324341.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130000. 1 interaction.
IntActiQ6ZP82. 2 interactions.
STRINGi9606.ENSP00000395995.

PTM databases

iPTMnetiQ6ZP82.
PhosphoSiteiQ6ZP82.

Polymorphism and mutation databases

BioMutaiCCDC141.
DMDMi74758754.

Proteomic databases

EPDiQ6ZP82.
PaxDbiQ6ZP82.
PRIDEiQ6ZP82.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000420890; ENSP00000395995; ENSG00000163492. [Q6ZP82-2]
GeneIDi285025.
KEGGihsa:285025.
UCSCiuc002une.2. human. [Q6ZP82-1]

Organism-specific databases

CTDi285025.
GeneCardsiCCDC141.
HGNCiHGNC:26821. CCDC141.
HPAiHPA012718.
MIMi616031. gene.
neXtProtiNX_Q6ZP82.
PharmGKBiPA162381449.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFKI. Eukaryota.
ENOG410XSUV. LUCA.
GeneTreeiENSGT00440000038972.
HOGENOMiHOG000111390.
InParanoidiQ6ZP82.
OMAiECTSPDD.
OrthoDBiEOG7DNNT9.
TreeFamiTF331580.

Miscellaneous databases

ChiTaRSiCCDC141. human.
GenomeRNAii285025.
PROiQ6ZP82.
SOURCEiSearch...

Gene expression databases

BgeeiQ6ZP82.
CleanExiHS_CCDC141.
ExpressionAtlasiQ6ZP82. baseline and differential.
GenevisibleiQ6ZP82. HS.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR002017. Spectrin_repeat.
[Graphical view]
PfamiPF00435. Spectrin. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 557-1450 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1121-1450 (ISOFORM 2).
    Tissue: Heart.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 560-1450 (ISOFORM 1).
  5. "CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration."
    Fukuda T., Sugita S., Inatome R., Yanagi S.
    J. Biol. Chem. 285:40554-40561(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT 828-ARG.

Entry informationi

Entry nameiCC141_HUMAN
AccessioniPrimary (citable) accession number: Q6ZP82
Secondary accession number(s): H7C0P1, J3KNW6, Q8N8H3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: November 26, 2014
Last modified: June 8, 2016
This is version 114 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.