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EFCAB6 EF-hand calcium binding domain 6 [ Homo sapiens (human) ]

Gene ID: 64800, updated on 13-Feb-2019

Summary

Official Symbol
EFCAB6provided by HGNC
Official Full Name
EF-hand calcium binding domain 6provided by HGNC
Primary source
HGNC:HGNC:24204
See related
Ensembl:ENSG00000186976
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DJBP; HSCBCIP1; dJ185D5.1
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 protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Expression
Biased expression in testis (RPKM 13.3) and thyroid (RPKM 1.2) See more
Orthologs

Genomic context

See EFCAB6 in Genome Data Viewer
Location:
22q13.2-q13.31
Exon count:
41
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (43528549..43812977, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43924624..44208217, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1639 Neighboring gene metallophosphoesterase domain containing 1 Neighboring gene EFCAB6 antisense RNA 1 Neighboring gene uncharacterized LOC101927474 Neighboring gene YWHAQ pseudogene 2 Neighboring gene ribosomal protein L4 pseudogene Neighboring gene uncharacterized LOC107985564 Neighboring gene uncharacterized LOC105373058 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 9 Neighboring gene DNA-directed RNA polymerase II subunit RPB1-like Neighboring gene sulfotransferase family 4A member 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Pathways from BioSystems

  • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23588, KIAA1672

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
EF-hand calcium-binding domain-containing protein 6
Names
CAP-binding protein complex-interacting protein 1
DJ-1-binding protein
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030019.1 RefSeqGene

    Range
    5001..288594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022785.4NP_073622.2  EF-hand calcium-binding domain-containing protein 6 isoform a

    See identical proteins and their annotated locations for NP_073622.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK058069, AK292411, BC039315, BP325901
    Consensus CDS
    CCDS14049.1
    UniProtKB/Swiss-Prot
    Q5THR3
    Related
    ENSP00000262726.7, ENST00000262726.11
    Conserved Domains (4) summary
    COG5126
    Location:294469
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    pfam08976
    Location:11601260
    EF-hand_11; EF-hand domain
    pfam13499
    Location:14391499
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:408468
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  2. NM_198856.2NP_942153.1  EF-hand calcium-binding domain-containing protein 6 isoform b

    See identical proteins and their annotated locations for NP_942153.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AA778573, AK058069, AK292411, BC039315, BP325901
    Consensus CDS
    CCDS14050.1
    UniProtKB/Swiss-Prot
    Q5THR3
    Related
    ENSP00000379533.2, ENST00000396231.6
    Conserved Domains (4) summary
    COG5126
    Location:142317
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    pfam08976
    Location:10081108
    EF-hand_11; EF-hand domain
    pfam13499
    Location:12871347
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:256316
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    43528549..43812977 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530319.3XP_011528621.1  EF-hand calcium-binding domain-containing protein 6 isoform X5

    See identical proteins and their annotated locations for XP_011528621.1

    Conserved Domains (4) summary
    COG5126
    Location:188363
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    pfam08976
    Location:10541154
    EF-hand_11; EF-hand domain
    pfam13499
    Location:71129
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:302362
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  2. XM_011530317.3XP_011528619.1  EF-hand calcium-binding domain-containing protein 6 isoform X2

    See identical proteins and their annotated locations for XP_011528619.1

    Conserved Domains (5) summary
    COG5126
    Location:294469
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:408468
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam08976
    Location:11601260
    EF-hand_11; EF-hand domain
    pfam13499
    Location:177235
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:177235
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  3. XM_011530321.3XP_011528623.1  EF-hand calcium-binding domain-containing protein 6 isoform X7

    See identical proteins and their annotated locations for XP_011528623.1

    Conserved Domains (4) summary
    pfam08976
    Location:10081108
    EF-hand_11; EF-hand domain
    pfam13499
    Location:704758
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:256316
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cl25352
    Location:142317
    EFh_PEF; The penta-EF hand (PEF) family
  4. XM_017028912.2XP_016884401.1  EF-hand calcium-binding domain-containing protein 6 isoform X9

    Conserved Domains (4) summary
    COG5126
    Location:136311
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    pfam08976
    Location:10021102
    EF-hand_11; EF-hand domain
    pfam13499
    Location:1977
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:250310
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  5. XM_005261705.4XP_005261762.1  EF-hand calcium-binding domain-containing protein 6 isoform X5

    See identical proteins and their annotated locations for XP_005261762.1

    Conserved Domains (4) summary
    COG5126
    Location:188363
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    pfam08976
    Location:10541154
    EF-hand_11; EF-hand domain
    pfam13499
    Location:71129
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:302362
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  6. XM_011530318.3XP_011528620.1  EF-hand calcium-binding domain-containing protein 6 isoform X3

    Conserved Domains (5) summary
    COG5126
    Location:268443
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:382442
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam08976
    Location:11341234
    EF-hand_11; EF-hand domain
    pfam13499
    Location:101171
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:151209
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  7. XM_011530320.3XP_011528622.1  EF-hand calcium-binding domain-containing protein 6 isoform X6

    Conserved Domains (4) summary
    COG5126
    Location:320495
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    pfam08976
    Location:11861286
    EF-hand_11; EF-hand domain
    pfam13499
    Location:203261
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:434494
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  8. XM_017028911.2XP_016884400.1  EF-hand calcium-binding domain-containing protein 6 isoform X4

  9. XM_017028910.2XP_016884399.1  EF-hand calcium-binding domain-containing protein 6 isoform X1

    Conserved Domains (5) summary
    COG5126
    Location:320495
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:434494
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam08976
    Location:11861286
    EF-hand_11; EF-hand domain
    pfam13499
    Location:203261
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:100152
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  10. XM_024452262.1XP_024308030.1  EF-hand calcium-binding domain-containing protein 6 isoform X7

    Conserved Domains (4) summary
    pfam08976
    Location:10081108
    EF-hand_11; EF-hand domain
    pfam13499
    Location:704758
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:256316
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cl25352
    Location:142317
    EFh_PEF; The penta-EF hand (PEF) family
  11. XM_005261704.2XP_005261761.1  EF-hand calcium-binding domain-containing protein 6 isoform X2

    See identical proteins and their annotated locations for XP_005261761.1

    Conserved Domains (5) summary
    COG5126
    Location:294469
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:408468
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam08976
    Location:11601260
    EF-hand_11; EF-hand domain
    pfam13499
    Location:177235
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:177235
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  12. XM_011530316.1XP_011528618.1  EF-hand calcium-binding domain-containing protein 6 isoform X1

    Conserved Domains (5) summary
    COG5126
    Location:320495
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:434494
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam08976
    Location:11861286
    EF-hand_11; EF-hand domain
    pfam13499
    Location:203261
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:100152
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  13. XM_024452263.1XP_024308031.1  EF-hand calcium-binding domain-containing protein 6 isoform X14

    Conserved Domains (3) summary
    pfam08976
    Location:458558
    EF-hand_11; EF-hand domain
    pfam13499
    Location:154208
    EF-hand_7; EF-hand domain pair
    cl25352
    Location:261407
    EFh_PEF; The penta-EF hand (PEF) family
  14. XM_011530325.2XP_011528627.1  EF-hand calcium-binding domain-containing protein 6 isoform X10

    Conserved Domains (4) summary
    COG5126
    Location:46221
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:160220
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam08976
    Location:9121012
    EF-hand_11; EF-hand domain
    cl08302
    Location:937990
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  15. XM_011530323.2XP_011528625.1  EF-hand calcium-binding domain-containing protein 6 isoform X8

    Conserved Domains (4) summary
    COG5126
    Location:140315
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    pfam08976
    Location:10061106
    EF-hand_11; EF-hand domain
    pfam13499
    Location:2381
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:254314
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  16. XM_011530327.2XP_011528629.1  EF-hand calcium-binding domain-containing protein 6 isoform X12

    Conserved Domains (4) summary
    COG5126
    Location:655801
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:100160
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam08976
    Location:852952
    EF-hand_11; EF-hand domain
    cl08302
    Location:877930
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  17. XM_011530326.3XP_011528628.1  EF-hand calcium-binding domain-containing protein 6 isoform X11

    Conserved Domains (4) summary
    COG5126
    Location:320495
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    pfam08976
    Location:11861242
    EF-hand_11; EF-hand domain
    pfam13499
    Location:203261
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:434494
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  18. XM_011530328.3XP_011528630.1  EF-hand calcium-binding domain-containing protein 6 isoform X13

    Conserved Domains (3) summary
    COG5126
    Location:320495
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    pfam13499
    Location:203261
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:434494
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  19. XM_011530330.3XP_011528632.1  EF-hand calcium-binding domain-containing protein 6 isoform X15

    Conserved Domains (3) summary
    COG5126
    Location:320495
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    pfam13499
    Location:203261
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:434494
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RNA

  1. XR_937895.3 RNA Sequence

  2. XR_937896.3 RNA Sequence

  3. XR_001755274.2 RNA Sequence

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