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Q96ER9

- CCD51_HUMAN

UniProt

Q96ER9 - CCD51_HUMAN

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Protein

Coiled-coil domain-containing protein 51

Gene

CCDC51

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

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 51
Gene namesi
Name:CCDC51
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:25714. CCDC51.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrion Source: HPA
  3. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672167.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 411411Coiled-coil domain-containing protein 51PRO_0000288868Add
BLAST

Proteomic databases

MaxQBiQ96ER9.
PaxDbiQ96ER9.
PRIDEiQ96ER9.

PTM databases

PhosphoSiteiQ96ER9.

Expressioni

Gene expression databases

BgeeiQ96ER9.
CleanExiHS_CCDC51.
ExpressionAtlasiQ96ER9. baseline and differential.
GenevestigatoriQ96ER9.

Organism-specific databases

HPAiHPA010980.
HPA011408.

Interactioni

Protein-protein interaction databases

BioGridi122831. 26 interactions.
STRINGi9606.ENSP00000296441.

Structurei

3D structure databases

ProteinModelPortaliQ96ER9.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei202 – 22221HelicalSequence AnalysisAdd
BLAST
Transmembranei387 – 40721HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili111 – 17363Sequence AnalysisAdd
BLAST

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG83482.
GeneTreeiENSGT00390000001709.
HOGENOMiHOG000111419.
HOVERGENiHBG100936.
InParanoidiQ96ER9.
OMAiMTRTLCS.
OrthoDBiEOG7W6WN1.
PhylomeDBiQ96ER9.
TreeFamiTF318449.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96ER9-1) [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
MMGRSPGFAM QHIVGVPHVL VRRGLLGRDL FMTRTLCSPG PSQPGEKRPE
60 70 80 90 100
EVALGLHHRL PALGRALGHS IQQRATSTAK TWWDRYEEFV GLNEVREAQG
110 120 130 140 150
KVTEAEKVFM VARGLVREAR EDLEVHQAKL KEVRDRLDRV SREDSQYLEL
160 170 180 190 200
ATLEHRMLQE EKRLRTAYLR AEDSEREKFS LFSAAVRESH EKERTRAERT
210 220 230 240 250
KNWSLIGSVL GALIGVAGST YVNRVRLQEL KALLLEAQKG PVSLQEAIRE
260 270 280 290 300
QASSYSRQQR DLHNLMVDLR GLVHAAGPGQ DSGSQAGSPP TRDRDVDVLS
310 320 330 340 350
AALKEQLSHS RQVHSCLEGL REQLDGLEKT CSQMAGVVQL VKSAAHPGLV
360 370 380 390 400
EPADGAMPSF LLEQGSMILA LSDTEQRLEA QVNRNTIYST LVTCVTFVAT
410
LPVLYMLFKA S
Length:411
Mass (Da):45,811
Last modified:May 29, 2007 - v2
Checksum:iD99F1D8AF9EB8C04
GO
Isoform 2 (identifier: Q96ER9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-109: Missing.

Note: No experimental confirmation available.

Show »
Length:302
Mass (Da):33,657
Checksum:i12C2189386744A44
GO

Sequence cautioni

The sequence AAH11993.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti360 – 3601F → S.
Corresponds to variant rs7618609 [ dbSNP | Ensembl ].
VAR_032515

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 109109Missing in isoform 2. 1 PublicationVSP_025800Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK022498 mRNA. Translation: BAB14060.1.
BC011993 mRNA. Translation: AAH11993.1. Different initiation.
CCDSiCCDS2766.2. [Q96ER9-1]
CCDS58830.1. [Q96ER9-2]
RefSeqiNP_001243893.1. NM_001256964.1. [Q96ER9-1]
NP_001243894.1. NM_001256965.2. [Q96ER9-2]
NP_001243895.1. NM_001256966.2. [Q96ER9-2]
NP_001243896.1. NM_001256967.2. [Q96ER9-2]
NP_001243897.1. NM_001256968.2. [Q96ER9-2]
NP_001243898.1. NM_001256969.2. [Q96ER9-2]
NP_078937.3. NM_024661.4. [Q96ER9-1]
UniGeneiHs.187657.
Hs.740720.

Genome annotation databases

EnsembliENST00000395694; ENSP00000379047; ENSG00000164051. [Q96ER9-1]
ENST00000412398; ENSP00000401194; ENSG00000164051. [Q96ER9-2]
ENST00000442740; ENSP00000392898; ENSG00000164051. [Q96ER9-2]
ENST00000447018; ENSP00000412300; ENSG00000164051. [Q96ER9-2]
GeneIDi79714.
KEGGihsa:79714.
UCSCiuc003ctc.3. human. [Q96ER9-1]

Polymorphism databases

DMDMi152032342.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK022498 mRNA. Translation: BAB14060.1 .
BC011993 mRNA. Translation: AAH11993.1 . Different initiation.
CCDSi CCDS2766.2. [Q96ER9-1 ]
CCDS58830.1. [Q96ER9-2 ]
RefSeqi NP_001243893.1. NM_001256964.1. [Q96ER9-1 ]
NP_001243894.1. NM_001256965.2. [Q96ER9-2 ]
NP_001243895.1. NM_001256966.2. [Q96ER9-2 ]
NP_001243896.1. NM_001256967.2. [Q96ER9-2 ]
NP_001243897.1. NM_001256968.2. [Q96ER9-2 ]
NP_001243898.1. NM_001256969.2. [Q96ER9-2 ]
NP_078937.3. NM_024661.4. [Q96ER9-1 ]
UniGenei Hs.187657.
Hs.740720.

3D structure databases

ProteinModelPortali Q96ER9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122831. 26 interactions.
STRINGi 9606.ENSP00000296441.

PTM databases

PhosphoSitei Q96ER9.

Polymorphism databases

DMDMi 152032342.

Proteomic databases

MaxQBi Q96ER9.
PaxDbi Q96ER9.
PRIDEi Q96ER9.

Protocols and materials databases

DNASUi 79714.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000395694 ; ENSP00000379047 ; ENSG00000164051 . [Q96ER9-1 ]
ENST00000412398 ; ENSP00000401194 ; ENSG00000164051 . [Q96ER9-2 ]
ENST00000442740 ; ENSP00000392898 ; ENSG00000164051 . [Q96ER9-2 ]
ENST00000447018 ; ENSP00000412300 ; ENSG00000164051 . [Q96ER9-2 ]
GeneIDi 79714.
KEGGi hsa:79714.
UCSCi uc003ctc.3. human. [Q96ER9-1 ]

Organism-specific databases

CTDi 79714.
GeneCardsi GC03M048473.
H-InvDB HIX0003284.
HGNCi HGNC:25714. CCDC51.
HPAi HPA010980.
HPA011408.
neXtProti NX_Q96ER9.
PharmGKBi PA142672167.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG83482.
GeneTreei ENSGT00390000001709.
HOGENOMi HOG000111419.
HOVERGENi HBG100936.
InParanoidi Q96ER9.
OMAi MTRTLCS.
OrthoDBi EOG7W6WN1.
PhylomeDBi Q96ER9.
TreeFami TF318449.

Miscellaneous databases

GenomeRNAii 79714.
NextBioi 69051.
PROi Q96ER9.

Gene expression databases

Bgeei Q96ER9.
CleanExi HS_CCDC51.
ExpressionAtlasi Q96ER9. baseline and differential.
Genevestigatori Q96ER9.

Family and domain databases

ProtoNeti Search...

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] (ISOFORM 2).
  2. "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).
    Tissue: Ovary.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiCCD51_HUMAN
AccessioniPrimary (citable) accession number: Q96ER9
Secondary accession number(s): Q9HA01
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: October 29, 2014
This is version 80 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 3
    Human chromosome 3: 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

External Data

Dasty 3