EFCC1 (EF-hand and coiled-coil domain containing 1) - Rat Genome Database

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Gene: EFCC1 (EF-hand and coiled-coil domain containing 1) Canis lupus familiaris
Analyze
Symbol: EFCC1
Name: EF-hand and coiled-coil domain containing 1
RGD ID: 12197706
Description: ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH alkaptonuria (ortholog); genetic disease (ortholog); immunodeficiency 21 (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: CCDC48; coiled-coil domain containing 48; EF-hand and coiled-coil domain-containing protein 1
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1203,047,915 - 3,089,138 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl203,049,673 - 3,087,023 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha203,084,631 - 3,126,294 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0203,068,745 - 3,110,418 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1202,788,309 - 2,829,984 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0203,110,910 - 3,152,578 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0203,075,343 - 3,117,029 (-)NCBIUU_Cfam_GSD_1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References
Additional References at PubMed
PMID:22301074  


Genomics

Comparative Map Data
EFCC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1203,047,915 - 3,089,138 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl203,049,673 - 3,087,023 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha203,084,631 - 3,126,294 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0203,068,745 - 3,110,418 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1202,788,309 - 2,829,984 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0203,110,910 - 3,152,578 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0203,075,343 - 3,117,029 (-)NCBIUU_Cfam_GSD_1.0
EFCC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383129,001,304 - 129,040,742 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3129,001,304 - 129,040,742 (+)EnsemblGRCh38hg38GRCh38
GRCh373128,720,147 - 128,759,585 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,231,982 - 130,242,273 (+)NCBINCBI36Build 36hg18NCBI36
Celera3127,152,648 - 127,191,825 (+)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3126,106,963 - 126,146,067 (+)NCBIHuRef
CHM1_13128,683,912 - 128,723,015 (+)NCBICHM1_1
T2T-CHM13v2.03131,746,185 - 131,785,616 (+)NCBIT2T-CHM13v2.0
Efcc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39687,707,577 - 87,739,410 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl687,707,851 - 87,732,890 (+)EnsemblGRCm39 Ensembl
GRCm38687,730,590 - 87,762,428 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl687,730,869 - 87,755,908 (+)EnsemblGRCm38mm10GRCm38
MGSCv37687,680,863 - 87,705,906 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36687,696,510 - 87,699,658 (+)NCBIMGSCv36mm8
Celera689,665,461 - 89,690,504 (+)NCBICelera
Cytogenetic Map6D1NCBI
cM Map639.02NCBI
Efcc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84121,745,547 - 121,778,475 (+)NCBIGRCr8
mRatBN7.24120,188,202 - 120,223,464 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4120,188,470 - 120,217,516 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4125,667,362 - 125,694,847 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04121,442,162 - 121,469,647 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04120,066,384 - 120,093,869 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04119,633,214 - 119,663,081 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4119,633,755 - 119,661,004 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04184,885,715 - 184,915,192 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44121,917,925 - 121,945,822 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4109,149,270 - 109,176,624 (+)NCBICelera
Cytogenetic Map4q34NCBI
Efcc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545010,494,407 - 10,523,125 (-)NCBIChiLan1.0ChiLan1.0
EFCC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22126,935,767 - 126,975,903 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13126,940,809 - 126,980,630 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03126,060,648 - 126,100,007 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13133,410,543 - 133,459,445 (+)NCBIpanpan1.1PanPan1.1panPan2
Efcc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494220,106,653 - 20,126,083 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936798149,027 - 167,705 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936798148,549 - 167,924 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EFCC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1371,505,035 - 71,540,592 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11371,504,832 - 71,538,394 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21379,102,645 - 79,128,367 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EFCC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12252,023,814 - 52,066,719 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2252,023,262 - 52,066,700 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041114,299,797 - 114,344,142 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Efcc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247817,595,408 - 7,624,733 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247817,589,756 - 7,625,387 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EFCC1
404 total Variants

Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system reproductive system respiratory system adipose tissue
High
Medium 5 9
Low 5 5 10 6 6 2 12 1 6
Below cutoff 7 6 6 4 8

Sequence


RefSeq Acc Id: ENSCAFT00000006971   ⟹   ENSCAFP00000006453
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl203,049,673 - 3,087,023 (-)Ensembl
RefSeq Acc Id: XM_038426777   ⟹   XP_038282705
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0203,068,745 - 3,110,418 (-)NCBI
RefSeq Acc Id: XM_038455706   ⟹   XP_038311634
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
Dog10K_Boxer_Tasha203,084,631 - 3,126,294 (-)NCBI
RefSeq Acc Id: XM_038502586   ⟹   XP_038358514
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.1202,788,309 - 2,829,984 (-)NCBI
RefSeq Acc Id: XM_038565496   ⟹   XP_038421424
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.0203,075,343 - 3,117,029 (-)NCBI
RefSeq Acc Id: XM_038629617   ⟹   XP_038485545
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.0203,110,910 - 3,152,578 (-)NCBI
RefSeq Acc Id: ENSCAFP00000006453   ⟸   ENSCAFT00000006971
RefSeq Acc Id: XP_038358514   ⟸   XM_038502586
RefSeq Acc Id: XP_038485545   ⟸   XM_038629617
RefSeq Acc Id: XP_038282705   ⟸   XM_038426777
- UniProtKB: A0A8C0TYK0 (UniProtKB/TrEMBL),   A0A8I3P958 (UniProtKB/TrEMBL),   A0A8C0Z7E1 (UniProtKB/TrEMBL),   A0A8I3PB99 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038311634   ⟸   XM_038455706
- UniProtKB: A0A8P0N741 (UniProtKB/TrEMBL),   A0A8I3PB99 (UniProtKB/TrEMBL),   A0A8C0Z7E1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038421424   ⟸   XM_038565496
- UniProtKB: A0A8C0TYK0 (UniProtKB/TrEMBL),   A0A8C0Z7E1 (UniProtKB/TrEMBL),   A0A8I3P958 (UniProtKB/TrEMBL),   A0A8I3PB99 (UniProtKB/TrEMBL)
Protein Domains
EF-hand


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000004343 Ensembl, UniProtKB/TrEMBL
  ENSCAFG00040025974 UniProtKB/TrEMBL
  ENSCAFG00845020839 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCAFT00000006971.4 UniProtKB/TrEMBL
  ENSCAFT00040048604.1 UniProtKB/TrEMBL
  ENSCAFT00040048606.1 UniProtKB/TrEMBL
  ENSCAFT00845036747 ENTREZGENE
  ENSCAFT00845036747.1 UniProtKB/TrEMBL
  ENSCAFT00845036818.1 UniProtKB/TrEMBL
InterPro CCD48 UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/TrEMBL
NCBI Gene EFCC1 ENTREZGENE
Pfam CCD48 UniProtKB/TrEMBL
PROSITE EF_HAND_2 UniProtKB/TrEMBL
UniProt A0A8C0TYK0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C0Z7E1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3P958 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3PB99 ENTREZGENE, UniProtKB/TrEMBL
  A0A8P0N741 ENTREZGENE, UniProtKB/TrEMBL
VGNC ID VGNC:54941 ENTREZGENE