Q96ER9 (CCD51_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 51

Gene names

Name:

CCDC51

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	411 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence caution	The sequence AAH11993.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrion Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96ER9-1)

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.

Isoform 2 (identifier: Q96ER9-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 411	411	Coiled-coil domain-containing protein 51		PRO_0000288868
Regions
	Transmembrane	202 – 222	21	Helical; Potential
	Transmembrane	387 – 407	21	Helical; Potential
	Coiled coil	111 – 173	63	Potential
Natural variations
	Alternative sequence	1 – 109	109	Missing in isoform 2.		VSP_025800
	Natural variant	360	1	F → S. Corresponds to variant rs7618609 [ dbSNP | Ensembl ].		VAR_032515

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 29, 2007. Version 2. Checksum: D99F1D8AF9EB8C04	FASTA	411	45,811
	10 20 30 40 50 60 MMGRSPGFAM QHIVGVPHVL VRRGLLGRDL FMTRTLCSPG PSQPGEKRPE EVALGLHHRL 70 80 90 100 110 120 PALGRALGHS IQQRATSTAK TWWDRYEEFV GLNEVREAQG KVTEAEKVFM VARGLVREAR 130 140 150 160 170 180 EDLEVHQAKL KEVRDRLDRV SREDSQYLEL ATLEHRMLQE EKRLRTAYLR AEDSEREKFS 190 200 210 220 230 240 LFSAAVRESH EKERTRAERT KNWSLIGSVL GALIGVAGST YVNRVRLQEL KALLLEAQKG 250 260 270 280 290 300 PVSLQEAIRE QASSYSRQQR DLHNLMVDLR GLVHAAGPGQ DSGSQAGSPP TRDRDVDVLS 310 320 330 340 350 360 AALKEQLSHS RQVHSCLEGL REQLDGLEKT CSQMAGVVQL VKSAAHPGLV EPADGAMPSF 370 380 390 400 410 LLEQGSMILA LSDTEQRLEA QVNRNTIYST LVTCVTFVAT LPVLYMLFKA S
	Isoform 2 [UniParc]. Checksum: 12C2189386744A44	FASTA	302	33,657
	10 20 30 40 50 60 MVARGLVREA REDLEVHQAK LKEVRDRLDR VSREDSQYLE LATLEHRMLQ EEKRLRTAYL 70 80 90 100 110 120 RAEDSEREKF SLFSAAVRES HEKERTRAER TKNWSLIGSV LGALIGVAGS TYVNRVRLQE 130 140 150 160 170 180 LKALLLEAQK GPVSLQEAIR EQASSYSRQQ RDLHNLMVDL RGLVHAAGPG QDSGSQAGSP 190 200 210 220 230 240 PTRDRDVDVL SAALKEQLSH SRQVHSCLEG LREQLDGLEK TCSQMAGVVQ LVKSAAHPGL 250 260 270 280 290 300 VEPADGAMPS FLLEQGSMIL ALSDTEQRLE AQVNRNTIYS TLVTCVTFVA TLPVLYMLFK AS

References

[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]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK022498 mRNA. Translation: BAB14060.1. BC011993 mRNA. Translation: AAH11993.1. Different initiation.
IPI	IPI00153023. IPI00795428.
RefSeq	NP_001243893.1. NM_001256964.1. NP_001243894.1. NM_001256965.1. NP_001243895.1. NM_001256966.1. NP_001243896.1. NM_001256967.1. NP_001243897.1. NM_001256968.1. NP_001243898.1. NM_001256969.1. NP_078937.3. NM_024661.4.
UniGene	Hs.187657. Hs.740720.
3D structure databases
ProteinModelPortal	Q96ER9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000296441.
PTM databases
PhosphoSite	Q96ER9.
Polymorphism databases
DMDM	152032342.
Proteomic databases
PaxDb	Q96ER9.
PRIDE	Q96ER9.
Protocols and materials databases
DNASU	79714.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000395694; ENSP00000379047; ENSG00000164051. ENST00000395696; ENSP00000379049; ENSG00000164051. ENST00000412398; ENSP00000401194; ENSG00000164051. ENST00000442740; ENSP00000392898; ENSG00000164051. ENST00000447018; ENSP00000412300; ENSG00000164051.
GeneID	79714.
KEGG	hsa:79714.
UCSC	uc003ctc.3. human.
Organism-specific databases
CTD	79714.
GeneCards	GC03M048450.
H-InvDB	HIX0003284.
HGNC	HGNC:25714. CCDC51.
HPA	HPA010980. HPA011408.
neXtProt	NX_Q96ER9.
PharmGKB	PA142672167.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG83482.
HOGENOM	HOG000111419.
HOVERGEN	HBG100936.
InParanoid	Q96ER9.
OMA	SRQVHSC.
Gene expression databases
ArrayExpress	Q96ER9.
Bgee	Q96ER9.
CleanEx	HS_CCDC51.
Genevestigator	Q96ER9.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	79714.
NextBio	69051.

Entry information

Entry name

CCD51_HUMAN

Accession

Primary (citable) accession number: Q96ER9
Secondary accession number(s): Q9HA01

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	May 29, 2007
Last modified:	April 3, 2013
This is version 69 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.