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CABIN1 calcineurin binding protein 1 [ Homo sapiens (human) ]

Gene ID: 23523, updated on 7-Oct-2018

Summary

Official Symbol
CABIN1provided by HGNC
Official Full Name
calcineurin binding protein 1provided by HGNC
Primary source
HGNC:HGNC:24187
See related
Ensembl:ENSG00000099991 MIM:604251; Vega:OTTHUMG00000150797
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
CAIN; PPP3IN; KB-318B8.7
Summary
Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in thyroid (RPKM 6.8), testis (RPKM 6.2) and 25 other tissues See more
Orthologs

Genomic context

See CABIN1 in Genome Data Viewer
Location:
22q11.23
Exon count:
43
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (24011192..24178628)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24407642..24574596)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372959 Neighboring gene glutathione S-transferase theta 4 Neighboring gene skeletal muscle cis-regulatory module in CABIN1 intron Neighboring gene sushi domain containing 2 Neighboring gene gamma-glutamyltransferase 5

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.
NHGRI GWA Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0330

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to nucleosome binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphatase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
DNA replication-independent nucleosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA replication-independent nucleosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
cell surface receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
aggresome IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
calcineurin-binding protein cabin-1
Names
calcineurin binding protein cabin 1
calcineurin inhibitor

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_047136.1 RefSeqGene

    Range
    5124..172437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199281.1NP_001186210.1  calcineurin-binding protein cabin-1 isoform a

    See identical proteins and their annotated locations for NP_001186210.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AB002328, AL703593
    Consensus CDS
    CCDS13823.1
    UniProtKB/Swiss-Prot
    Q9Y6J0
    UniProtKB/TrEMBL
    A0A024R1E5
    Related
    ENSP00000381364.2, OTTHUMP00000198540, ENST00000398319.6, OTTHUMT00000320161
    Conserved Domains (6) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam09047
    Location:21562190
    MEF2_binding; MEF2 binding
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
    pfam15444
    Location:19452030
    TMEM247; Transmembrane protein 247
    pfam16181
    Location:20022130
    RelB_transactiv; RelB transactivation domain
  2. NM_001201429.1NP_001188358.1  calcineurin-binding protein cabin-1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AB002328, AF072441, BC054497
    Consensus CDS
    CCDS74830.1
    UniProtKB/Swiss-Prot
    Q9Y6J0
    UniProtKB/TrEMBL
    A0A087WWW8
    Related
    ENSP00000480560.1, ENST00000617531.4
    Conserved Domains (4) summary
    COG0457
    Location:34210
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd13839
    Location:21062140
    MEF2_binding; Mycocyte enhancer factor-2 (MEF2) binding domain of the calcineurin-binding protein cabin-1
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    cl26464
    Location:18642107
    Atrophin-1; Atrophin-1 family
  3. NM_012295.3NP_036427.1  calcineurin-binding protein cabin-1 isoform a

    See identical proteins and their annotated locations for NP_036427.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AF072441
    Consensus CDS
    CCDS13823.1
    UniProtKB/Swiss-Prot
    Q9Y6J0
    UniProtKB/TrEMBL
    A0A024R1E5
    Related
    ENSP00000263119.5, OTTHUMP00000208363, ENST00000263119.9, OTTHUMT00000340949
    Conserved Domains (6) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam09047
    Location:21562190
    MEF2_binding; MEF2 binding
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
    pfam15444
    Location:19452030
    TMEM247; Transmembrane protein 247
    pfam16181
    Location:20022130
    RelB_transactiv; RelB transactivation domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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
    24011192..24178628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261419.2XP_005261476.1  calcineurin-binding protein cabin-1 isoform X6

    Conserved Domains (4) summary
    COG0457
    Location:14165
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd13839
    Location:21462180
    MEF2_binding; Mycocyte enhancer factor-2 (MEF2) binding domain of the calcineurin-binding protein cabin-1
    sd00006
    Location:3664
    TPR; TPR repeat [structural motif]
    cl26464
    Location:19042147
    Atrophin-1; Atrophin-1 family
  2. XM_024452184.1XP_024307952.1  calcineurin-binding protein cabin-1 isoform X1

    Conserved Domains (4) summary
    COG0457
    Location:34210
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd13839
    Location:21912225
    MEF2_binding; Mycocyte enhancer factor-2 (MEF2) binding domain of the calcineurin-binding protein cabin-1
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    cl26464
    Location:19492192
    Atrophin-1; Atrophin-1 family
  3. XM_005261415.3XP_005261472.1  calcineurin-binding protein cabin-1 isoform X1

    Conserved Domains (4) summary
    COG0457
    Location:34210
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd13839
    Location:21912225
    MEF2_binding; Mycocyte enhancer factor-2 (MEF2) binding domain of the calcineurin-binding protein cabin-1
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    cl26464
    Location:19492192
    Atrophin-1; Atrophin-1 family
  4. XM_006724179.2XP_006724242.1  calcineurin-binding protein cabin-1 isoform X3

    Conserved Domains (5) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam09047
    Location:21622196
    MEF2_binding; MEF2 binding
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
    cl21589
    Location:19442133
    Relaxase; Relaxase/Mobilization nuclease domain
  5. XM_005261416.3XP_005261473.1  calcineurin-binding protein cabin-1 isoform X2

    Conserved Domains (6) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam09047
    Location:21862220
    MEF2_binding; MEF2 binding
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
    pfam15444
    Location:19752060
    TMEM247; Transmembrane protein 247
    pfam16181
    Location:20322160
    RelB_transactiv; RelB transactivation domain
  6. XM_017028680.2XP_016884169.1  calcineurin-binding protein cabin-1 isoform X5

  7. XM_005261417.3XP_005261474.1  calcineurin-binding protein cabin-1 isoform X4

    Conserved Domains (6) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam09047
    Location:21612195
    MEF2_binding; MEF2 binding
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
    pfam15444
    Location:19502035
    TMEM247; Transmembrane protein 247
    pfam16181
    Location:20072135
    RelB_transactiv; RelB transactivation domain
  8. XM_006724181.2XP_006724244.1  calcineurin-binding protein cabin-1 isoform X9

    Conserved Domains (5) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam09047
    Location:21272161
    MEF2_binding; MEF2 binding
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
    cl21589
    Location:19092098
    Relaxase; Relaxase/Mobilization nuclease domain
  9. XM_006724180.2XP_006724243.1  calcineurin-binding protein cabin-1 isoform X8

    Conserved Domains (6) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam09047
    Location:21322166
    MEF2_binding; MEF2 binding
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
    pfam15444
    Location:19212006
    TMEM247; Transmembrane protein 247
    pfam16181
    Location:19782106
    RelB_transactiv; RelB transactivation domain
  10. XM_011530026.2XP_011528328.1  calcineurin-binding protein cabin-1 isoform X10

    Conserved Domains (6) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam09047
    Location:21262160
    MEF2_binding; MEF2 binding
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
    pfam15444
    Location:19152000
    TMEM247; Transmembrane protein 247
    pfam16181
    Location:19722100
    RelB_transactiv; RelB transactivation domain
  11. XM_017028681.2XP_016884170.1  calcineurin-binding protein cabin-1 isoform X7

  12. XM_024452187.1XP_024307955.1  calcineurin-binding protein cabin-1 isoform X11

    Conserved Domains (4) summary
    COG0457
    Location:34210
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd13839
    Location:21062140
    MEF2_binding; Mycocyte enhancer factor-2 (MEF2) binding domain of the calcineurin-binding protein cabin-1
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    cl26464
    Location:18642107
    Atrophin-1; Atrophin-1 family
  13. XM_017028683.2XP_016884172.1  calcineurin-binding protein cabin-1 isoform X13

    UniProtKB/Swiss-Prot
    Q9Y6J0
    Related
    ENSP00000384694.2, OTTHUMP00000198541, ENST00000405822.6
    Conserved Domains (6) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam09047
    Location:20772111
    MEF2_binding; MEF2 binding
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
    pfam15444
    Location:18661951
    TMEM247; Transmembrane protein 247
    pfam16181
    Location:19232051
    RelB_transactiv; RelB transactivation domain
  14. XM_024452186.1XP_024307954.1  calcineurin-binding protein cabin-1 isoform X6

    Conserved Domains (4) summary
    COG0457
    Location:14165
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd13839
    Location:21462180
    MEF2_binding; Mycocyte enhancer factor-2 (MEF2) binding domain of the calcineurin-binding protein cabin-1
    sd00006
    Location:3664
    TPR; TPR repeat [structural motif]
    cl26464
    Location:19042147
    Atrophin-1; Atrophin-1 family
  15. XM_011530029.3XP_011528331.1  calcineurin-binding protein cabin-1 isoform X14

    Conserved Domains (3) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
  16. XM_011530030.3XP_011528332.1  calcineurin-binding protein cabin-1 isoform X15

    Conserved Domains (3) summary
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:92155
    TPR_11; TPR repeat
    pfam13424
    Location:36120
    TPR_12; Tetratricopeptide repeat
  17. XM_024452185.1XP_024307953.1  calcineurin-binding protein cabin-1 isoform X1

    Conserved Domains (4) summary
    COG0457
    Location:34210
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd13839
    Location:21912225
    MEF2_binding; Mycocyte enhancer factor-2 (MEF2) binding domain of the calcineurin-binding protein cabin-1
    sd00006
    Location:90118
    TPR; TPR repeat [structural motif]
    cl26464
    Location:19492192
    Atrophin-1; Atrophin-1 family
  18. XM_017028682.2XP_016884171.1  calcineurin-binding protein cabin-1 isoform X12

  19. XM_017028684.1XP_016884173.1  calcineurin-binding protein cabin-1 isoform X16

RNA

  1. XR_001755184.2 RNA Sequence

  2. XR_001755185.2 RNA Sequence

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187633.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    301995..302395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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