Q96A33 (CCD47_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 47

Gene names

Name:	CCDC47
ORF Names:	GK001, MSTP041, PSEC0077

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	483 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Membrane; Single-pass membrane protein Potential.
Sequence caution	The sequence AAG39292.1 differs from that shown. Reason: Frameshift at position 306.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Coiled coil Signal Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ER overload response Inferred from electronic annotation. Source: Compara calcium ion homeostasis Inferred from electronic annotation. Source: Compara embryo development Inferred from electronic annotation. Source: Compara post-embryonic development Inferred from electronic annotation. Source: Compara
Cellular_component	endoplasmic reticulum Inferred from electronic annotation. Source: Compara integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Irak1	Q99J34	2	EBI-720151,EBI-6117042	From a different organism.
IRF7	Q92985	2	EBI-720151,EBI-968267
Sarm1	Q6PDS3	2	EBI-720151,EBI-6117196	From a different organism.
TIRAP	P58753	2	EBI-720151,EBI-528644
TMEM173	Q86WV6	2	EBI-720151,EBI-2800345

Alternative products

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

Isoform 1 (identifier: Q96A33-1)

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: Q96A33-2)

The sequence of this isoform differs from the canonical sequence as follows:
     458-483: EAALRREQKKLEKKQMKMKQIKVKAM → VRQTYHWGKTTICKDDCLCSVGC

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 483	463	Coiled-coil domain-containing protein 47		PRO_0000235797
Regions
	Transmembrane	136 – 155	20	Helical; Potential
	Coiled coil	450 – 483	34	Potential
Amino acid modifications
	Glycosylation	178	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	458 – 483	26	EAALR…KVKAM → VRQTYHWGKTTICKDDCLCS VGC in isoform 2.		VSP_018478
Experimental info
	Sequence conflict	464 – 465	2	EQ → AK in AAF86954. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 2C77CB7359B6A857	FASTA	483	55,874
	10 20 30 40 50 60 MKAFHTFCVV LLVFGSVSEA KFDDFEDEED IVEYDDNDFA EFEDVMEDSV TESPQRVIIT 70 80 90 100 110 120 EDDEDETTVE LEGQDENQEG DFEDADTQEG DTESEPYDDE EFEGYEDKPD TSSSKNKDPI 130 140 150 160 170 180 TIVDVPAHLQ NSWESYYLEI LMVTGLLAYI MNYIIGKNKN SRLAQAWFNT HRELLESNFT 190 200 210 220 230 240 LVGDDGTNKE ATSTGKLNQE NEHIYNLWCS GRVCCEGMLI QLRFLKRQDL LNVLARMMRP 250 260 270 280 290 300 VSDQVQIKVT MNDEDMDTYV FAVGTRKALV RLQKEMQDLS EFCSDKPKSG AKYGLPDSLA 310 320 330 340 350 360 ILSEMGEVTD GMMDTKMVHF LTHYADKIES VHFSDQFSGP KIMQEEGQPL KLPDTKRTLL 370 380 390 400 410 420 FTFNVPGSGN TYPKDMEALL PLMNMVIYSI DKAKKFRLNR EGKQKADKNR ARVEENFLKL 430 440 450 460 470 480 THVQRQEAAQ SRREEKKRAE KERIMNEEDP EKQRRLEEAA LRREQKKLEK KQMKMKQIKV KAM
	Isoform 2 [UniParc]. Checksum: 5312D8D979B50D1C	FASTA	480	55,318
	10 20 30 40 50 60 MKAFHTFCVV LLVFGSVSEA KFDDFEDEED IVEYDDNDFA EFEDVMEDSV TESPQRVIIT 70 80 90 100 110 120 EDDEDETTVE LEGQDENQEG DFEDADTQEG DTESEPYDDE EFEGYEDKPD TSSSKNKDPI 130 140 150 160 170 180 TIVDVPAHLQ NSWESYYLEI LMVTGLLAYI MNYIIGKNKN SRLAQAWFNT HRELLESNFT 190 200 210 220 230 240 LVGDDGTNKE ATSTGKLNQE NEHIYNLWCS GRVCCEGMLI QLRFLKRQDL LNVLARMMRP 250 260 270 280 290 300 VSDQVQIKVT MNDEDMDTYV FAVGTRKALV RLQKEMQDLS EFCSDKPKSG AKYGLPDSLA 310 320 330 340 350 360 ILSEMGEVTD GMMDTKMVHF LTHYADKIES VHFSDQFSGP KIMQEEGQPL KLPDTKRTLL 370 380 390 400 410 420 FTFNVPGSGN TYPKDMEALL PLMNMVIYSI DKAKKFRLNR EGKQKADKNR ARVEENFLKL 430 440 450 460 470 480 THVQRQEAAQ SRREEKKRAE KERIMNEEDP EKQRRLEVRQ TYHWGKTTIC KDDCLCSVGC

References

[1]	"A novel gene expressed in human liver cancer tissue." Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Liver cancer.
[2]	"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 AND 2). Tissue: Placenta.
[3]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: Lymph and Ovary.
[6]	Liu B., Liu Y.Q., Wang X.Y., Zhao B., Sheng H., Zhao X.W., Liu S., Xu Y.Y., Ye J., Song L., Gao Y., Zhang C.L., Zhang J., Wei Y.J., Cao H.Q., Zhao Y., Liu L.S., Ding J.F. , Gao R.L., Wu Q.Y., Qiang B.Q., Yuan J.G., Liew C.C., Zhao M.S., Hui R.T. Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 107-483 (ISOFORM 1). Tissue: Heart.
[7]	"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	AF226054 mRNA. Translation: AAF86954.1. AK027786 mRNA. Translation: BAB55367.1. AK027844 mRNA. Translation: BAB55407.1. AK075387 mRNA. Translation: BAC11587.1. AK314328 mRNA. Translation: BAG36975.1. CH471109 Genomic DNA. Translation: EAW94279.1. CH471109 Genomic DNA. Translation: EAW94281.1. CH471109 Genomic DNA. Translation: EAW94282.1. BC008905 mRNA. Translation: AAH08905.1. BC013600 mRNA. Translation: AAH13600.2. AF113221 mRNA. Translation: AAG39292.1. Frameshift.
IPI	IPI00024642. IPI00743775.
RefSeq	NP_064583.2. NM_020198.2.
UniGene	Hs.202011.
3D structure databases
ProteinModelPortal	Q96A33.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96A33. 12 interactions.
MINT	MINT-1375420.
STRING	9606.ENSP00000225726.
PTM databases
PhosphoSite	Q96A33.
Polymorphism databases
DMDM	74731083.
Proteomic databases
PaxDb	Q96A33.
PRIDE	Q96A33.
Protocols and materials databases
DNASU	57003.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000225726; ENSP00000225726; ENSG00000108588. ENST00000403162; ENSP00000384888; ENSG00000108588. ENST00000582252; ENSP00000463577; ENSG00000108588.
GeneID	57003.
KEGG	hsa:57003.
UCSC	uc002jbs.4. human. uc002jbt.2. human.
Organism-specific databases
CTD	57003.
GeneCards	GC17M061822.
HGNC	HGNC:24856. CCDC47.
HPA	HPA029674.
neXtProt	NX_Q96A33.
PharmGKB	PA142672164.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG323483.
HOVERGEN	HBG081033.
InParanoid	Q96A33.
OMA	FAVGTKK.
OrthoDB	EOG4WWRJM.
PhylomeDB	Q96A33.
Gene expression databases
Bgee	Q96A33.
CleanEx	HS_CCDC47.
Genevestigator	Q96A33.
GermOnline	ENSG00000108588. Homo sapiens.
Family and domain databases
InterPro	IPR012879. DUF1682. [Graphical view]
PANTHER	PTHR12883. PTHR12883. 1 hit.
Pfam	PF07946. DUF1682. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	CCDC47. human.
GenomeRNAi	57003.
NextBio	62739.

Entry information

Entry name

CCD47_HUMAN

Accession

Primary (citable) accession number: Q96A33
Secondary accession number(s): B2RAS8 , D3DU20, Q96D00, Q96JZ7, Q9H3E4, Q9NRG3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 16, 2006
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 92 of the entry and version 1 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.