Q9HA90 (EFCC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
EF-hand and coiled-coil domain-containing protein 1

Alternative name(s):
Coiled-coil domain-containing protein 48

Gene names

Name:	EFCC1
Synonyms:	C3orf73, CCDC48

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	598 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Contains 1 EF-hand domain.
Caution	It is uncertain whether Met-1 or Met-12 is the initiator.
Sequence caution	The sequence AAH93800.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAI12196.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q9HA90-1)

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: Q9HA90-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-437: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 598	598	EF-hand and coiled-coil domain-containing protein 1		PRO_0000234510
Regions
	Domain	54 – 89	36	EF-hand
	Coiled coil	196 – 303	108	Potential
	Coiled coil	479 – 533	55	Potential
	Compositional bias	175 – 184	10	Poly-Arg
	Compositional bias	582 – 589	8	Poly-Ala
Natural variations
	Alternative sequence	1 – 437	437	Missing in isoform 2.		VSP_039449
	Natural variant	528	1	R → Q. Corresponds to variant rs3732430 [ dbSNP | Ensembl ].		VAR_050753

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 13, 2010. Version 2. Checksum: 414C1E0FF5F47EA0	FASTA	598	65,701
	10 20 30 40 50 60 MEPVSTGAEA GMEGAGGDPY RRPARRTQWL LSALAHHYGL DRGVENEIVV LATGLDQYLQ 70 80 90 100 110 120 EVFHHLDCRG AGRLPRADFR ALCAVLGLRA EGATTAGQAA GDGNSRDVTP GDAAAELATD 130 140 150 160 170 180 GDSDTDEEAR LALRAEPPEL TFRQFHARLC GYFGTRAGPR LPRGALSEHI ETQIRLRRPR 190 200 210 220 230 240 RRRRPPCAPG PDSGPDCERV ARLEEENSSL RELVEDLRAA LQSSDARCLA LQVGLWKSQA 250 260 270 280 290 300 STHEMGHGGP EAAVRELRQA QGALAAAEAR AGRLRRGQAE VRRRAEEARQ VVLRSLHRVR 310 320 330 340 350 360 ELEALAQQVP GLQRWVRRLE AELQRYRSED SQLPTPQLAN PEPGDKSNEP EDAGTRDPDP 370 380 390 400 410 420 TPEGAWQSDS SSGSRALDEV DEQLFRSVEG QAASDEEEVE EERWQEEKKT PAAEAKTLLA 430 440 450 460 470 480 RLSSCRGRCD DQTAEKLMTY FGHFGGANHA HTLGELEACI AMLVEQLRTQ GCGGRTLGTS 490 500 510 520 530 540 EEEAELQQKV EENEHLRLEL QMVETERVRL SLLEEKLVDV LQLLQRLRDL NISKRALGKI 550 560 570 580 590 LLSTLDAFRD PTHEGRPSPA AILDALHQAL AACQLLRRQP SAPASAAAAL TNPLLVSC
	Isoform 2 [UniParc]. Checksum: 3F15DC9A94532B6B	FASTA	161	17,669
	10 20 30 40 50 60 MTYFGHFGGA NHAHTLGELE ACIAMLVEQL RTQGCGGRTL GTSEEEAELQ QKVEENEHLR 70 80 90 100 110 120 LELQMVETER VRLSLLEEKL VDVLQLLQRL RDLNISKRAL GKILLSTLDA FRDPTHEGRP 130 140 150 160 SPAAILDALH QALAACQLLR RQPSAPASAA AALTNPLLVS C

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). Tissue: Embryo.
[2]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [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] OF 113-276 AND 431-598 (ISOFORM 1). Tissue: Brain and Ovary.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK022119 mRNA. Translation: BAB13964.1. AC112484 Genomic DNA. No translation available. BC093800 mRNA. Translation: AAH93800.1. Different initiation. BC112195 mRNA. Translation: AAI12196.1. Different initiation. BF058142 mRNA. No translation available.
IPI	IPI00944556. IPI00946049.
RefSeq	NP_079044.2. NM_024768.2.
UniGene	Hs.134807.
3D structure databases
ProteinModelPortal	Q9HA90.
SMR	Q9HA90. Positions 55-119.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000265050.
Polymorphism databases
DMDM	300669629.
Proteomic databases
PaxDb	Q9HA90.
PRIDE	Q9HA90.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000436022; ENSP00000414597; ENSG00000114654. ENST00000480450; ENSP00000420075; ENSG00000114654.
GeneID	79825.
KEGG	hsa:79825.
UCSC	uc011bkt.2. human.
Organism-specific databases
CTD	79825.
GeneCards	GC03P128720.
HGNC	HGNC:25692. EFCC1.
HPA	HPA042798. HPA050888.
neXtProt	NX_Q9HA90.
PharmGKB	PA142672165.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG45785.
HOGENOM	HOG000090223.
HOVERGEN	HBG078065.
InParanoid	Q9HA90.
OMA	RCDDQTA.
OrthoDB	EOG4PNXHZ.
Gene expression databases
Bgee	Q9HA90.
CleanEx	HS_CCDC48.
Genevestigator	Q9HA90.
GermOnline	ENSG00000114654. Homo sapiens.
Family and domain databases
InterPro	IPR002048. EF_hand_dom. [Graphical view]
PROSITE	PS00018. EF_HAND_1. False negative. PS50222. EF_HAND_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	79825.
NextBio	69454.

Entry information

Entry name

EFCC1_HUMAN

Accession

Primary (citable) accession number: Q9HA90
Secondary accession number(s): A8MYE2

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 16, 2006
Last sequence update:	July 13, 2010
Last modified:	May 1, 2013
This is version 68 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.