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Protein

Coiled-coil domain-containing protein 129

Gene

CCDC129

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

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 129
Gene namesi
Name:CCDC129
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:27363. CCDC129.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162381298.

Polymorphism and mutation databases

BioMutaiCCDC129.
DMDMi302393683.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10441044Coiled-coil domain-containing protein 129PRO_0000270963Add
BLAST

Proteomic databases

PaxDbiQ6ZRS4.
PRIDEiQ6ZRS4.

PTM databases

iPTMnetiQ6ZRS4.
PhosphoSiteiQ6ZRS4.

Expressioni

Gene expression databases

BgeeiQ6ZRS4.
CleanExiHS_CCDC129.
ExpressionAtlasiQ6ZRS4. baseline and differential.
GenevisibleiQ6ZRS4. HS.

Organism-specific databases

HPAiHPA024103.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000384416.

Structurei

3D structure databases

ProteinModelPortaliQ6ZRS4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili896 – 93742Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi793 – 83442Cys-richAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IIRH. Eukaryota.
ENOG410YK4C. LUCA.
GeneTreeiENSGT00530000063345.
HOGENOMiHOG000111385.
HOVERGENiHBG080711.
InParanoidiQ6ZRS4.
OMAiPEWLEFW.
OrthoDBiEOG7NGQ9S.
PhylomeDBiQ6ZRS4.
TreeFamiTF331566.

Family and domain databases

InterProiIPR029325. IP3R-bd.
IPR029326. SSFA2_C.
[Graphical view]
PfamiPF14722. KRAP_IP3R_bind. 1 hit.
PF14723. SSFA2_C. 1 hit.
[Graphical view]
SMARTiSM01257. KRAP_IP3R_bind. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZRS4-1) [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
MMAQKSQGSD NLQEGQEKSK REILKCTKSA WAPLDEWLPP DPEEESQSLT
60 70 80 90 100
IPMLEDSKQE SIQQWLDSGF FVSANENFQQ VIDRTVSLYE QGMVQMTVKD
110 120 130 140 150
YMRSLHQFSE TPILSRGTSF NSCYSTASVP QSIPEWLEFW EIDPVEILLD
160 170 180 190 200
LGFGADEPDI CMQIPARFLG CGSAARGINI RVFLEAQKQR MDIENPNLYG
210 220 230 240 250
RFRQLEILDH VTNAFSSLLS DVSILPNRAE EKAGGESVQR TSVSAAKEHR
260 270 280 290 300
RRMGKLLRRA SKQNIRRDCN PEVSESFKVK DEVFVPFTKP WDCGAELAAT
310 320 330 340 350
SINHKQNHLS LSVEHQSLQA CDDLLPYPPH GLLSKQWPCS SMPAKQAPPS
360 370 380 390 400
CVSEGSVKGR TQKENLFQTN KLKSLSHLAG KGPDSFEMEE VQSFEEETGN
410 420 430 440 450
PLDMTSGTVG ARVDRANSCQ SDSSGFLEEP LEPLPLQMPS LPNSQSPAEN
460 470 480 490 500
GGRKPRDQSH SLVSSQDCQL ESDGPDSKSR ASMSFSSQEA NALEQRASVS
510 520 530 540 550
VMEEEFLLEA MEGPPELYIP DMACAKTTTR GECPRKDSHL WQLLPMPHAE
560 570 580 590 600
YEVTRPTATS KYDHPLGFMV THVTEMQDSF VRPEGAGKVQ SHHNESQRSP
610 620 630 640 650
GNDHTQDKFL HVDSEAPREE ESSGFCPHTN HSLLVPESSS QCIPKHSEIT
660 670 680 690 700
PYATDLAQTS EKLIPHLHKL PGDPAQVKSR SGTLGQILPG TEAEMENLPL
710 720 730 740 750
NTGSSRSVMT QMSSSLVSAA QRAVALGTGP RGTSLECTVC DPVTATETRL
760 770 780 790 800
GTKARQLNDA SIQTSALSNK TLTHGPQPLT KSVSLDSGFS SICPMGTCHA
810 820 830 840 850
IPAHCCICCH HHPHCHGERQ SPGPEPSVCR HCLCSLTGHQ EAQFMTTLKA
860 870 880 890 900
LQDTTVRELC SCTVHEMEAM KTICQSFREY LEEIEQHLMG QQALFSRDMS
910 920 930 940 950
EEEREEAEQL QTLREALRQQ VAELEFQLGD RAQQIREGIL LQLEVLTAEP
960 970 980 990 1000
PEHYSNLHQY NWIEESNGQT SCSKIHPGMA PRTVFPPDDG QEAPCSGGTQ
1010 1020 1030 1040
LAAFTPPTLE NSTRMSPSSS AWAKLGPTPL SNCPVGEKDA DVFL
Length:1,044
Mass (Da):115,403
Last modified:August 10, 2010 - v2
Checksum:iAADC89ADA69B8B7B
GO
Isoform 2 (identifier: Q6ZRS4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     244-391: Missing.

Note: No experimental confirmation available.
Show »
Length:896
Mass (Da):98,868
Checksum:iF0A45E42A3F5FA76
GO
Isoform 3 (identifier: Q6ZRS4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: Missing.

Note: No experimental confirmation available.
Show »
Length:952
Mass (Da):104,885
Checksum:i27605E9AA15F2F61
GO
Isoform 4 (identifier: Q6ZRS4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPTTASCKTISLLKLLYSVSLQNYSPM
     998-1044: GTQLAAFTPP...VGEKDADVFL → ELLSAELDPF...FLKTQDSGLL

Note: No experimental confirmation available.
Show »
Length:1,062
Mass (Da):117,716
Checksum:iD141260E5E14596C
GO

Sequence cautioni

The sequence BAG65223.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti802 – 8021P → S in BAC87235 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321A → D.2 Publications
Corresponds to variant rs7811042 [ dbSNP | Ensembl ].
VAR_033660
Natural varianti105 – 1051L → V in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035496
Natural varianti377 – 3771H → R.2 Publications
Corresponds to variant rs10252720 [ dbSNP | Ensembl ].
VAR_063505
Natural varianti490 – 4901A → V.2 Publications
Corresponds to variant rs4141001 [ dbSNP | Ensembl ].
VAR_033661
Natural varianti809 – 8091C → Y.2 Publications
Corresponds to variant rs10247620 [ dbSNP | Ensembl ].
VAR_033662
Natural varianti887 – 8871H → Y.
Corresponds to variant rs7799540 [ dbSNP | Ensembl ].
VAR_033663

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9292Missing in isoform 3. 1 PublicationVSP_039586Add
BLAST
Alternative sequencei1 – 11M → MPTTASCKTISLLKLLYSVS LQNYSPM in isoform 4. 1 PublicationVSP_045000
Alternative sequencei244 – 391148Missing in isoform 2. 1 PublicationVSP_039587Add
BLAST
Alternative sequencei998 – 104447GTQLA…ADVFL → ELLSAELDPFFFSSKANNSA KDEKIKSKDFLKTQDSGLL in isoform 4. 1 PublicationVSP_045001Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095663 mRNA. Translation: BAG53101.1.
AK128026 mRNA. Translation: BAC87235.1.
AK295011 mRNA. Translation: BAG58071.1.
AK304387 mRNA. Translation: BAG65223.1. Different initiation.
AC005090 Genomic DNA. No translation available.
AC006044 Genomic DNA. No translation available.
BC132719 mRNA. Translation: AAI32720.1.
CCDSiCCDS5435.2. [Q6ZRS4-1]
CCDS59050.1. [Q6ZRS4-4]
RefSeqiNP_001244896.1. NM_001257967.1.
NP_001244897.1. NM_001257968.1. [Q6ZRS4-4]
NP_919276.2. NM_194300.3. [Q6ZRS4-1]
XP_011513515.1. XM_011515213.1. [Q6ZRS4-1]
XP_011513516.1. XM_011515214.1. [Q6ZRS4-1]
UniGeneiHs.224269.

Genome annotation databases

EnsembliENST00000319386; ENSP00000313062; ENSG00000180347. [Q6ZRS4-2]
ENST00000407970; ENSP00000384416; ENSG00000180347. [Q6ZRS4-1]
ENST00000409210; ENSP00000387214; ENSG00000180347. [Q6ZRS4-3]
ENST00000451887; ENSP00000395835; ENSG00000180347. [Q6ZRS4-4]
GeneIDi223075.
KEGGihsa:223075.
UCSCiuc003tci.2. human. [Q6ZRS4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095663 mRNA. Translation: BAG53101.1.
AK128026 mRNA. Translation: BAC87235.1.
AK295011 mRNA. Translation: BAG58071.1.
AK304387 mRNA. Translation: BAG65223.1. Different initiation.
AC005090 Genomic DNA. No translation available.
AC006044 Genomic DNA. No translation available.
BC132719 mRNA. Translation: AAI32720.1.
CCDSiCCDS5435.2. [Q6ZRS4-1]
CCDS59050.1. [Q6ZRS4-4]
RefSeqiNP_001244896.1. NM_001257967.1.
NP_001244897.1. NM_001257968.1. [Q6ZRS4-4]
NP_919276.2. NM_194300.3. [Q6ZRS4-1]
XP_011513515.1. XM_011515213.1. [Q6ZRS4-1]
XP_011513516.1. XM_011515214.1. [Q6ZRS4-1]
UniGeneiHs.224269.

3D structure databases

ProteinModelPortaliQ6ZRS4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000384416.

PTM databases

iPTMnetiQ6ZRS4.
PhosphoSiteiQ6ZRS4.

Polymorphism and mutation databases

BioMutaiCCDC129.
DMDMi302393683.

Proteomic databases

PaxDbiQ6ZRS4.
PRIDEiQ6ZRS4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319386; ENSP00000313062; ENSG00000180347. [Q6ZRS4-2]
ENST00000407970; ENSP00000384416; ENSG00000180347. [Q6ZRS4-1]
ENST00000409210; ENSP00000387214; ENSG00000180347. [Q6ZRS4-3]
ENST00000451887; ENSP00000395835; ENSG00000180347. [Q6ZRS4-4]
GeneIDi223075.
KEGGihsa:223075.
UCSCiuc003tci.2. human. [Q6ZRS4-1]

Organism-specific databases

CTDi223075.
GeneCardsiCCDC129.
H-InvDBHIX0006576.
HGNCiHGNC:27363. CCDC129.
HPAiHPA024103.
neXtProtiNX_Q6ZRS4.
PharmGKBiPA162381298.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIRH. Eukaryota.
ENOG410YK4C. LUCA.
GeneTreeiENSGT00530000063345.
HOGENOMiHOG000111385.
HOVERGENiHBG080711.
InParanoidiQ6ZRS4.
OMAiPEWLEFW.
OrthoDBiEOG7NGQ9S.
PhylomeDBiQ6ZRS4.
TreeFamiTF331566.

Miscellaneous databases

ChiTaRSiCCDC129. human.
GenomeRNAii223075.
PROiQ6ZRS4.

Gene expression databases

BgeeiQ6ZRS4.
CleanExiHS_CCDC129.
ExpressionAtlasiQ6ZRS4. baseline and differential.
GenevisibleiQ6ZRS4. HS.

Family and domain databases

InterProiIPR029325. IP3R-bd.
IPR029326. SSFA2_C.
[Graphical view]
PfamiPF14722. KRAP_IP3R_bind. 1 hit.
PF14723. SSFA2_C. 1 hit.
[Graphical view]
SMARTiSM01257. KRAP_IP3R_bind. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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] (ISOFORMS 1; 2; 3 AND 4), VARIANTS ASP-32; ARG-377; VAL-490 AND TYR-809.
    Tissue: Fetal brain, Testis and Trachea.
  2. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORM 1), VARIANTS ASP-32; ARG-377; VAL-490 AND TYR-809.
  4. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-105.

Entry informationi

Entry nameiCC129_HUMAN
AccessioniPrimary (citable) accession number: Q6ZRS4
Secondary accession number(s): A2RU17
, B3KTI9, B4DHB0, B4E2R1, F5H3V5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: August 10, 2010
Last modified: June 8, 2016
This is version 76 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 7
    Human chromosome 7: 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

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.