EFCAB6 (EF-hand calcium binding domain 6)

Gene

• Entrez ID: 64800
• Gene name: EF-hand calcium binding domain 6
• Gene symbol: EFCAB6
• Synonyms (NCBI Gene): DJBP, HSCBCIP1, dJ185D5.1
• Chromosome: 22
• Chromosome location: 22q13.2-q13.31
• Summary: This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023225	hsa-miR-122-5p	Proteomics	21750653
MIRT446360	hsa-miR-3662	PAR-CLIP	22100165
MIRT446359	hsa-miR-4635	PAR-CLIP	22100165
MIRT446358	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT446360	hsa-miR-3662	PAR-CLIP	22100165
MIRT446359	hsa-miR-4635	PAR-CLIP	22100165
MIRT446358	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT446360	hsa-miR-3662	PAR-CLIP	22100165
MIRT446359	hsa-miR-4635	PAR-CLIP	22100165
MIRT446358	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT446360	hsa-miR-3662	PAR-CLIP	22100165
MIRT446359	hsa-miR-4635	PAR-CLIP	22100165
MIRT446358	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT953641	hsa-miR-1290	CLIP-seq
MIRT953642	hsa-miR-3159	CLIP-seq
MIRT953643	hsa-miR-3614-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	IEA

Other IDs

• MIM: 619664
• HGNC: 24204
• e!Ensembl: ENSG00000186976

Protein

• UniProt ID: Q5THR3
• Protein name: EF-hand calcium-binding domain-containing protein 6 (CAP-binding protein complex-interacting protein 1) (DJ-1-binding protein) (DJBP)
• Protein function: Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex (PubMed:12612053). Microtubule inner protein (MIP) part of the dynein-decorated doub
• PDB: 1WLZ, 5D67
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08976	EF-hand_11	57 → 151	EF-hand domain	Domain
  PF13833	EF-hand_8	419 → 471	EF-hand domain pair	Domain
  PF08976	EF-hand_11	1160 → 1260	EF-hand domain	Domain
  PF13499	EF-hand_7	1438 → 1500	EF-hand domain pair	Domain

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in the testis. {ECO:0000269|PubMed:12612053}.
• Sequence:

  MCKMAIIPDWLRSHPHTRKFTHSRPHSSPCRVYSRNGSPNKFRSSSTTAVANPTLSSLDV
  KRILFQKITDRGDELQKAFQLLDTGQNLTVSKSELRRIITDFLMPLTREQFQDVLAQIPL
  STSGTVPYLAFLSRFGGIDLYINGIKRGGGNEMNCCRTLRELEIQVGEKVFKNIKTVMKA
  FELIDVNKTGLVRPQELRRVLETFCMKLRDEEYEKFSKHYNIHKDTAVDYNVFLKNLSIN
  NDLNLRYCMGNQEVSLENQQAKNSKKERLLGSASSEDIWRNYSLDEIERNFCLQLSKSYE
  KVEKALSAGDPCKGGYVSFNYLKIVLDTFVYQIPRRIFIQLMKRFGLKATTKINWKQFLT
  SFHEPQGLQVSSKGPLTKRNSINSRNESHKENIITKLFRHTEDHSASLKKALLIINTKPD
  GPITREEFRYILNCMAVKLSDSEFKELMQMLDPGDTGVVNTSMFIDLIEENCRMRKTSPC
  TDAKTPFLLAWDSVEEIVHDTITRNLQAFYNMLRSYDLGDTGRIGRNNFKKIMHVFCPFL
  TNAHFIKLCSKIQDIGSGRILYKKLLACIGIDGPPTVSPVLVPKDQLLSEHLQKDEQQQP
  DLSERTKLTEDKTTLTKKMTTEEVIEKFKKCIQQQDPAFKKRFLDFSKEPNGKINVHDFK
  KVLEDTGMPMDDDQYALLTTKIGFEKEGMSYLDFAAGFEDPPMRGPETTPPQPPTPSKSY
  VNSHFITAEECLKLFPRRLKESFRDPYSAFFKTDADRDGIINMHDLHRLLLHLLLNLKDD
  EFERFLGLLGLRLSVTLNFREFQNLCEKRPWRTDEAPQRLIRPKQKVADSELACEQAHQY
  LVTKAKNRWSDLSKNFLETDNEGNGILRRRDIKNALYGFDIPLTPREFEKLWARYDTEGK
  GHITYQEFLQKLGINYSPAVHRPCAEDYFNFMGHFTKPQQLQEEMKELQQSTEKAVAARD
  KLMDRHQDISKAFTKTDQSKTNYISICKMQEVLEECGCSLTEGELTHLLNSWGVSRHDNA
  INYLDFLRAVENSKSTGAQPKEKEESMPINFATLNPQEAVRKIQEVVESSQLALSTAFSA
  LDKEDTGFVKATEFGQVLKDFCYKLTDNQYHYFLRKLRIHLTPYINWKYFLQNFSCFLEE
  TADEWAEKMPKGPPPTSPKATADRDILARLHKAVTSHYHAITQEFENFDTMKTNTISREE
  FRAICNRRVQILTDEQFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQR
  GSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPASTTVIPGTPPLQNCDPIESRLRKR
  IQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFA
  YCDFIQSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMR
  RTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFHILEYYDKTLSSKISYNDFLRAFL
  Q

• Sequence length: 1501

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Cerebrooculofacioskeletal Syndrome 1	Associate	31124294	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Associate	31124294	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Associate	31124294	★☆☆☆☆ Found in Text Mining only
Musculoskeletal Diseases	Associate	31124294	★☆☆☆☆ Found in Text Mining only