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Protein

EF-hand calcium-binding domain-containing protein 6

Gene

EFCAB6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi754 – 765PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation
LigandCalcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand calcium-binding domain-containing protein 6
Alternative name(s):
CAP-binding protein complex-interacting protein 1
DJ-1-binding protein
Short name:
DJBP
Gene namesi
Name:EFCAB6
Synonyms:DJBP, KIAA1672
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000186976.14
HGNCiHGNC:24204 EFCAB6
neXtProtiNX_Q5THR3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000186976
PharmGKBiPA162384324

Polymorphism and mutation databases

BioMutaiEFCAB6
DMDMi74756634

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002460241 – 1501EF-hand calcium-binding domain-containing protein 6Add BLAST1501

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei884PhosphothreonineBy similarity1
Modified residuei1290PhosphoserineBy similarity1
Modified residuei1294PhosphothreonineBy similarity1
Modified residuei1304PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5THR3
PaxDbiQ5THR3
PeptideAtlasiQ5THR3
PRIDEiQ5THR3
ProteomicsDBi65162
65163 [Q5THR3-2]
65164 [Q5THR3-3]
65165 [Q5THR3-4]
65166 [Q5THR3-5]
65167 [Q5THR3-6]

PTM databases

iPTMnetiQ5THR3
PhosphoSitePlusiQ5THR3

Expressioni

Tissue specificityi

Specifically expressed in the testis.1 Publication

Gene expression databases

BgeeiENSG00000186976 Expressed in 125 organ(s), highest expression level in right testis
CleanExiHS_EFCAB6
ExpressionAtlasiQ5THR3 baseline and differential
GenevisibleiQ5THR3 HS

Organism-specific databases

HPAiHPA003098

Interactioni

Subunit structurei

Binds PARK7. Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR.

Protein-protein interaction databases

BioGridi122306, 4 interactors
CORUMiQ5THR3
IntActiQ5THR3, 1 interactor
STRINGi9606.ENSP00000262726

Structurei

Secondary structure

11501
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ5THR3
SMRiQ5THR3
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ5THR3

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini70 – 105EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini172 – 207EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini297 – 332EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini403 – 438EF-hand 4PROSITE-ProRule annotationAdd BLAST36
Domaini439 – 474EF-hand 5PROSITE-ProRule annotationAdd BLAST36
Domaini504 – 539EF-hand 6PROSITE-ProRule annotationAdd BLAST36
Domaini634 – 669EF-hand 7PROSITE-ProRule annotationAdd BLAST36
Domaini741 – 776EF-hand 8PROSITE-ProRule annotationAdd BLAST36
Domaini847 – 882EF-hand 9PROSITE-ProRule annotationAdd BLAST36
Domaini883 – 918EF-hand 10PROSITE-ProRule annotationAdd BLAST36
Domaini964 – 999EF-hand 11PROSITE-ProRule annotationAdd BLAST36
Domaini1069 – 1104EF-hand 12PROSITE-ProRule annotationAdd BLAST36
Domaini1176 – 1211EF-hand 13PROSITE-ProRule annotationAdd BLAST36
Domaini1212 – 1247EF-hand 14PROSITE-ProRule annotationAdd BLAST36
Domaini1359 – 1394EF-hand 15PROSITE-ProRule annotationAdd BLAST36
Domaini1434 – 1469EF-hand 16PROSITE-ProRule annotationAdd BLAST36
Domaini1470 – 1501EF-hand 17PROSITE-ProRule annotationAdd BLAST32

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1303 – 1501Interaction with PARK71 PublicationAdd BLAST199
Regioni1407 – 1501Interaction with AR1 PublicationAdd BLAST95

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00390000013629
HOVERGENiHBG095997
InParanoidiQ5THR3
OMAiQNCEPIE
OrthoDBiEOG091G0TP8
PhylomeDBiQ5THR3
TreeFamiTF329179

Family and domain databases

InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR015070 EF_hand_DJBP
IPR002048 EF_hand_dom
PfamiView protein in Pfam
PF08976 EF-hand_11, 2 hits
PF13833 EF-hand_8, 2 hits
SMARTiView protein in SMART
SM00054 EFh, 12 hits
SUPFAMiSSF47473 SSF47473, 7 hits
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 17 hits

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5THR3-1) [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
MCKMAIIPDW LRSHPHTRKF THSRPHSSPC RVYSRNGSPN KFRSSSTTAV
60 70 80 90 100
ANPTLSSLDV KRILFQKITD RGDELQKAFQ LLDTGQNLTV SKSELRRIIT
110 120 130 140 150
DFLMPLTREQ FQDVLAQIPL STSGTVPYLA FLSRFGGIDL YINGIKRGGG
160 170 180 190 200
NEMNCCRTLR ELEIQVGEKV FKNIKTVMKA FELIDVNKTG LVRPQELRRV
210 220 230 240 250
LETFCMKLRD EEYEKFSKHY NIHKDTAVDY NVFLKNLSIN NDLNLRYCMG
260 270 280 290 300
NQEVSLENQQ AKNSKKERLL GSASSEDIWR NYSLDEIERN FCLQLSKSYE
310 320 330 340 350
KVEKALSAGD PCKGGYVSFN YLKIVLDTFV YQIPRRIFIQ LMKRFGLKAT
360 370 380 390 400
TKINWKQFLT SFHEPQGLQV SSKGPLTKRN SINSRNESHK ENIITKLFRH
410 420 430 440 450
TEDHSASLKK ALLIINTKPD GPITREEFRY ILNCMAVKLS DSEFKELMQM
460 470 480 490 500
LDPGDTGVVN TSMFIDLIEE NCRMRKTSPC TDAKTPFLLA WDSVEEIVHD
510 520 530 540 550
TITRNLQAFY NMLRSYDLGD TGRIGRNNFK KIMHVFCPFL TNAHFIKLCS
560 570 580 590 600
KIQDIGSGRI LYKKLLACIG IDGPPTVSPV LVPKDQLLSE HLQKDEQQQP
610 620 630 640 650
DLSERTKLTE DKTTLTKKMT TEEVIEKFKK CIQQQDPAFK KRFLDFSKEP
660 670 680 690 700
NGKINVHDFK KVLEDTGMPM DDDQYALLTT KIGFEKEGMS YLDFAAGFED
710 720 730 740 750
PPMRGPETTP PQPPTPSKSY VNSHFITAEE CLKLFPRRLK ESFRDPYSAF
760 770 780 790 800
FKTDADRDGI INMHDLHRLL LHLLLNLKDD EFERFLGLLG LRLSVTLNFR
810 820 830 840 850
EFQNLCEKRP WRTDEAPQRL IRPKQKVADS ELACEQAHQY LVTKAKNRWS
860 870 880 890 900
DLSKNFLETD NEGNGILRRR DIKNALYGFD IPLTPREFEK LWARYDTEGK
910 920 930 940 950
GHITYQEFLQ KLGINYSPAV HRPCAEDYFN FMGHFTKPQQ LQEEMKELQQ
960 970 980 990 1000
STEKAVAARD KLMDRHQDIS KAFTKTDQSK TNYISICKMQ EVLEECGCSL
1010 1020 1030 1040 1050
TEGELTHLLN SWGVSRHDNA INYLDFLRAV ENSKSTGAQP KEKEESMPIN
1060 1070 1080 1090 1100
FATLNPQEAV RKIQEVVESS QLALSTAFSA LDKEDTGFVK ATEFGQVLKD
1110 1120 1130 1140 1150
FCYKLTDNQY HYFLRKLRIH LTPYINWKYF LQNFSCFLEE TADEWAEKMP
1160 1170 1180 1190 1200
KGPPPTSPKA TADRDILARL HKAVTSHYHA ITQEFENFDT MKTNTISREE
1210 1220 1230 1240 1250
FRAICNRRVQ ILTDEQFDRL WNEMPVNAKG RLKYPDFLSR FSSETAATPM
1260 1270 1280 1290 1300
ATGDSAVAQR GSSVPDVSEG TRSALSLPTQ ELRPGSKSQS HPCTPASTTV
1310 1320 1330 1340 1350
IPGTPPLQNC DPIESRLRKR IQGCWRQLLK ECKEKDVARQ GDINASDFLA
1360 1370 1380 1390 1400
LVEKFNLDIS KEECQQLIIK YDLKSNGKFA YCDFIQSCVL LLKAKESSLM
1410 1420 1430 1440 1450
HRMKIQNAHK MKEAGAETPS FYSALLRIQP KIVHCWRPMR RTFKSYDEAG
1460 1470 1480 1490 1500
TGLLSVADFR TVLRQYSINL SEEEFFHILE YYDKTLSSKI SYNDFLRAFL

Q
Length:1,501
Mass (Da):172,930
Last modified:December 21, 2004 - v1
Checksum:i1D380F63D7FA8FF9
GO
Isoform 2 (identifier: Q5THR3-2) [UniParc]FASTAAdd to basket
Also known as: Isoform b

The sequence of this isoform differs from the canonical sequence as follows:
     1-152: Missing.

Show »
Length:1,349
Mass (Da):155,839
Checksum:iF87F0B8368C7E476
GO
Isoform 3 (identifier: Q5THR3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-931: Missing.

Show »
Length:570
Mass (Da):65,308
Checksum:iF3FB697CB1D3161E
GO
Isoform 4 (identifier: Q5THR3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1139: Missing.
     1140-1140: E → M

Note: No experimental confirmation available.
Show »
Length:362
Mass (Da):41,263
Checksum:i46B36F8248128C3F
GO
Isoform 6 (identifier: Q5THR3-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     418-420: KPD → VRF
     421-1501: Missing.

Note: No experimental confirmation available.
Show »
Length:420
Mass (Da):48,464
Checksum:iCC793F6A57192EA9
GO
Isoform 5 (identifier: Q5THR3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1217-1249: FDRLWNEMPVNAKGRLKYPDFLSRFSSETAATP → VRNASQSSPCTPLAERQPGPWPECTEFKTVLYF
     1250-1501: Missing.

Note: No experimental confirmation available.
Show »
Length:1,249
Mass (Da):144,276
Checksum:iD35F8F03F7772E08
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B0QYI5B0QYI5_HUMAN
EF-hand calcium-binding domain-cont...
EFCAB6 hCG_1734403
200Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti478S → P in BAF85187 (PubMed:14702039).Curated1
Sequence conflicti726I → V in BAF85187 (PubMed:14702039).Curated1
Sequence conflicti833A → V in BAF85187 (PubMed:14702039).Curated1
Sequence conflicti882P → S in BAF85100 (PubMed:14702039).Curated1
Sequence conflicti990Q → H in BAB71780 (PubMed:12612053).Curated1
Sequence conflicti990Q → H in BAB15703 (PubMed:14702039).Curated1
Sequence conflicti1082D → G in AAH39315 (PubMed:15489334).Curated1
Sequence conflicti1139E → G in BAF85100 (PubMed:14702039).Curated1
Sequence conflicti1182T → P in BAF85187 (PubMed:14702039).Curated1
Sequence conflicti1218D → G in AAH39315 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048648166V → A. Corresponds to variant dbSNP:rs16990981Ensembl.1
Natural variantiVAR_048649199R → G. Corresponds to variant dbSNP:rs3747203Ensembl.1
Natural variantiVAR_048650351T → A1 PublicationCorresponds to variant dbSNP:rs5764214Ensembl.1
Natural variantiVAR_048651384S → A. Corresponds to variant dbSNP:rs6006438Ensembl.1
Natural variantiVAR_048652400H → Y1 PublicationCorresponds to variant dbSNP:rs137794Ensembl.1
Natural variantiVAR_048653680T → A1 PublicationCorresponds to variant dbSNP:rs137731Ensembl.1
Natural variantiVAR_048654780D → N. Corresponds to variant dbSNP:rs12159591Ensembl.1
Natural variantiVAR_048655800R → W. Corresponds to variant dbSNP:rs6006514Ensembl.1
Natural variantiVAR_0486561059A → V3 PublicationsCorresponds to variant dbSNP:rs9614382Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0198081 – 1139Missing in isoform 4. 1 PublicationAdd BLAST1139
Alternative sequenceiVSP_0198091 – 931Missing in isoform 3. 2 PublicationsAdd BLAST931
Alternative sequenceiVSP_0198101 – 152Missing in isoform 2. 1 PublicationAdd BLAST152
Alternative sequenceiVSP_034831418 – 420KPD → VRF in isoform 6. Curated3
Alternative sequenceiVSP_034832421 – 1501Missing in isoform 6. CuratedAdd BLAST1081
Alternative sequenceiVSP_0198111140E → M in isoform 4. 1 Publication1
Alternative sequenceiVSP_0198121217 – 1249FDRLW…TAATP → VRNASQSSPCTPLAERQPGP WPECTEFKTVLYF in isoform 5. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_0198131250 – 1501Missing in isoform 5. 1 PublicationAdd BLAST252

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB073862 mRNA Translation: BAB71780.1
AK027241 mRNA Translation: BAB15703.1
AK292411 mRNA Translation: BAF85100.1
AK292498 mRNA Translation: BAF85187.1
AL355841 mRNA Translation: CAB91065.1
AL023801 Genomic DNA No translation available.
AL031843 Genomic DNA No translation available.
AL118498 Genomic DNA No translation available.
Z82201 Genomic DNA No translation available.
Z97055 Genomic DNA No translation available.
BC039315 mRNA Translation: AAH39315.1
AB051459 mRNA Translation: BAB33342.1
CCDSiCCDS14049.1 [Q5THR3-1]
CCDS14050.1 [Q5THR3-2]
RefSeqiNP_073622.2, NM_022785.3 [Q5THR3-1]
NP_942153.1, NM_198856.2 [Q5THR3-2]
UniGeneiHs.658996

Genome annotation databases

EnsembliENST00000262726; ENSP00000262726; ENSG00000186976 [Q5THR3-1]
ENST00000396231; ENSP00000379533; ENSG00000186976 [Q5THR3-2]
GeneIDi64800
KEGGihsa:64800
UCSCiuc003bdy.3 human [Q5THR3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB073862 mRNA Translation: BAB71780.1
AK027241 mRNA Translation: BAB15703.1
AK292411 mRNA Translation: BAF85100.1
AK292498 mRNA Translation: BAF85187.1
AL355841 mRNA Translation: CAB91065.1
AL023801 Genomic DNA No translation available.
AL031843 Genomic DNA No translation available.
AL118498 Genomic DNA No translation available.
Z82201 Genomic DNA No translation available.
Z97055 Genomic DNA No translation available.
BC039315 mRNA Translation: AAH39315.1
AB051459 mRNA Translation: BAB33342.1
CCDSiCCDS14049.1 [Q5THR3-1]
CCDS14050.1 [Q5THR3-2]
RefSeqiNP_073622.2, NM_022785.3 [Q5THR3-1]
NP_942153.1, NM_198856.2 [Q5THR3-2]
UniGeneiHs.658996

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WLZX-ray1.60A/B/C/D1160-1260[»]
5D67X-ray2.00A/B/C/D1160-1260[»]
ProteinModelPortaliQ5THR3
SMRiQ5THR3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122306, 4 interactors
CORUMiQ5THR3
IntActiQ5THR3, 1 interactor
STRINGi9606.ENSP00000262726

PTM databases

iPTMnetiQ5THR3
PhosphoSitePlusiQ5THR3

Polymorphism and mutation databases

BioMutaiEFCAB6
DMDMi74756634

Proteomic databases

EPDiQ5THR3
PaxDbiQ5THR3
PeptideAtlasiQ5THR3
PRIDEiQ5THR3
ProteomicsDBi65162
65163 [Q5THR3-2]
65164 [Q5THR3-3]
65165 [Q5THR3-4]
65166 [Q5THR3-5]
65167 [Q5THR3-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262726; ENSP00000262726; ENSG00000186976 [Q5THR3-1]
ENST00000396231; ENSP00000379533; ENSG00000186976 [Q5THR3-2]
GeneIDi64800
KEGGihsa:64800
UCSCiuc003bdy.3 human [Q5THR3-1]

Organism-specific databases

CTDi64800
EuPathDBiHostDB:ENSG00000186976.14
GeneCardsiEFCAB6
H-InvDBiHIX0016558
HGNCiHGNC:24204 EFCAB6
HPAiHPA003098
neXtProtiNX_Q5THR3
OpenTargetsiENSG00000186976
PharmGKBiPA162384324
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0027 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00390000013629
HOVERGENiHBG095997
InParanoidiQ5THR3
OMAiQNCEPIE
OrthoDBiEOG091G0TP8
PhylomeDBiQ5THR3
TreeFamiTF329179

Miscellaneous databases

ChiTaRSiEFCAB6 human
EvolutionaryTraceiQ5THR3
GeneWikiiEFCAB6
GenomeRNAii64800
PROiPR:Q5THR3

Gene expression databases

BgeeiENSG00000186976 Expressed in 125 organ(s), highest expression level in right testis
CleanExiHS_EFCAB6
ExpressionAtlasiQ5THR3 baseline and differential
GenevisibleiQ5THR3 HS

Family and domain databases

InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR015070 EF_hand_DJBP
IPR002048 EF_hand_dom
PfamiView protein in Pfam
PF08976 EF-hand_11, 2 hits
PF13833 EF-hand_8, 2 hits
SMARTiView protein in SMART
SM00054 EFh, 12 hits
SUPFAMiSSF47473 SSF47473, 7 hits
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 17 hits
ProtoNetiSearch...

Entry informationi

Entry nameiEFCB6_HUMAN
AccessioniPrimary (citable) accession number: Q5THR3
Secondary accession number(s): A8K8P6
, A8K8Y3, B0QYI4, B0QYI6, Q5U5T6, Q9BY88, Q9H5C4, Q9NSF5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: December 21, 2004
Last modified: November 7, 2018
This is version 126 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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