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Q9HA90

- EFCC1_HUMAN

UniProt

Q9HA90 - EFCC1_HUMAN

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Protein

EF-hand and coiled-coil domain-containing protein 1

Gene

EFCC1

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

Functioni

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand and coiled-coil domain-containing protein 1
Alternative name(s):
Coiled-coil domain-containing protein 48
Gene namesi
Name:EFCC1
Synonyms:C3orf73, CCDC48
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:25692. EFCC1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672165.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 598598EF-hand and coiled-coil domain-containing protein 1PRO_0000234510Add
BLAST

Proteomic databases

PaxDbiQ9HA90.
PRIDEiQ9HA90.

Expressioni

Gene expression databases

BgeeiQ9HA90.
CleanExiHS_CCDC48.
GenevestigatoriQ9HA90.

Organism-specific databases

HPAiHPA042798.
HPA050888.

Interactioni

Protein-protein interaction databases

BioGridi122918. 1 interaction.
STRINGi9606.ENSP00000265050.

Structurei

3D structure databases

ProteinModelPortaliQ9HA90.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini54 – 8936EF-handPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili196 – 303108Sequence AnalysisAdd
BLAST
Coiled coili479 – 53355Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi175 – 18410Poly-Arg
Compositional biasi582 – 5898Poly-Ala

Sequence similaritiesi

Contains 1 EF-hand domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG45785.
GeneTreeiENSGT00680000100042.
HOGENOMiHOG000090223.
HOVERGENiHBG078065.
InParanoidiQ9HA90.
OMAiRCDDQTA.
OrthoDBiEOG7BKCTH.
PhylomeDBiQ9HA90.
TreeFamiTF330736.

Family and domain databases

InterProiIPR002048. EF_hand_dom.
[Graphical view]
PROSITEiPS50222. EF_HAND_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9HA90) [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
MEPVSTGAEA GMEGAGGDPY RRPARRTQWL LSALAHHYGL DRGVENEIVV
60 70 80 90 100
LATGLDQYLQ EVFHHLDCRG AGRLPRADFR ALCAVLGLRA EGATTAGQAA
110 120 130 140 150
GDGNSRDVTP GDAAAELATD GDSDTDEEAR LALRAEPPEL TFRQFHARLC
160 170 180 190 200
GYFGTRAGPR LPRGALSEHI ETQIRLRRPR RRRRPPCAPG PDSGPDCERV
210 220 230 240 250
ARLEEENSSL RELVEDLRAA LQSSDARCLA LQVGLWKSQA STHEMGHGGP
260 270 280 290 300
EAAVRELRQA QGALAAAEAR AGRLRRGQAE VRRRAEEARQ VVLRSLHRVR
310 320 330 340 350
ELEALAQQVP GLQRWVRRLE AELQRYRSED SQLPTPQLAN PEPGDKSNEP
360 370 380 390 400
EDAGTRDPDP TPEGAWQSDS SSGSRALDEV DEQLFRSVEG QAASDEEEVE
410 420 430 440 450
EERWQEEKKT PAAEAKTLLA RLSSCRGRCD DQTAEKLMTY FGHFGGANHA
460 470 480 490 500
HTLGELEACI AMLVEQLRTQ GCGGRTLGTS EEEAELQQKV EENEHLRLEL
510 520 530 540 550
QMVETERVRL SLLEEKLVDV LQLLQRLRDL NISKRALGKI LLSTLDAFRD
560 570 580 590
PTHEGRPSPA AILDALHQAL AACQLLRRQP SAPASAAAAL TNPLLVSC
Length:598
Mass (Da):65,701
Last modified:July 13, 2010 - v2
Checksum:i414C1E0FF5F47EA0
GO
Isoform 2 (identifier: Q9HA90-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:161
Mass (Da):17,669
Checksum:i3F15DC9A94532B6B
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti528 – 5281R → Q.
Corresponds to variant rs3732430 [ dbSNP | Ensembl ].
VAR_050753

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 437437Missing in isoform 2. 1 PublicationVSP_039449Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS3054.2. [Q9HA90-1]
RefSeqiNP_079044.2. NM_024768.2. [Q9HA90-1]
UniGeneiHs.134807.

Genome annotation databases

EnsembliENST00000436022; ENSP00000414597; ENSG00000114654. [Q9HA90-1]
GeneIDi79825.
KEGGihsa:79825.
UCSCiuc011bkt.2. human. [Q9HA90-1]

Polymorphism databases

DMDMi300669629.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS3054.2. [Q9HA90-1 ]
RefSeqi NP_079044.2. NM_024768.2. [Q9HA90-1 ]
UniGenei Hs.134807.

3D structure databases

ProteinModelPortali Q9HA90.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122918. 1 interaction.
STRINGi 9606.ENSP00000265050.

Polymorphism databases

DMDMi 300669629.

Proteomic databases

PaxDbi Q9HA90.
PRIDEi Q9HA90.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000436022 ; ENSP00000414597 ; ENSG00000114654 . [Q9HA90-1 ]
GeneIDi 79825.
KEGGi hsa:79825.
UCSCi uc011bkt.2. human. [Q9HA90-1 ]

Organism-specific databases

CTDi 79825.
GeneCardsi GC03P129058.
HGNCi HGNC:25692. EFCC1.
HPAi HPA042798.
HPA050888.
neXtProti NX_Q9HA90.
PharmGKBi PA142672165.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG45785.
GeneTreei ENSGT00680000100042.
HOGENOMi HOG000090223.
HOVERGENi HBG078065.
InParanoidi Q9HA90.
OMAi RCDDQTA.
OrthoDBi EOG7BKCTH.
PhylomeDBi Q9HA90.
TreeFami TF330736.

Miscellaneous databases

GenomeRNAii 79825.
NextBioi 69454.
PROi Q9HA90.

Gene expression databases

Bgeei Q9HA90.
CleanExi HS_CCDC48.
Genevestigatori Q9HA90.

Family and domain databases

InterProi IPR002048. EF_hand_dom.
[Graphical view ]
PROSITEi PS50222. EF_HAND_2. 1 hit.
[Graphical view ]
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).
    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.

Entry informationi

Entry nameiEFCC1_HUMAN
AccessioniPrimary (citable) accession number: Q9HA90
Secondary accession number(s): A8MYE2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: July 13, 2010
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

Caution

It is uncertain whether Met-1 or Met-12 is the initiator.Curated

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
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3