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    AKIP1 A-kinase interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 56672, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AKIP1provided by HGNC
    Official Full Name
    A-kinase interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:1170
    See related
    Ensembl:ENSG00000166452 MIM:609191; AllianceGenome:HGNC:1170
    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
    BCA3; C11orf17
    Summary
    This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.3), adrenal (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AKIP1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (8911189..8920079)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (8995274..9004239)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (8932736..8941626)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene DENN domain containing 2B Neighboring gene DENND2B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8827143-8827644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8827645-8828144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:8850107-8850606 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:8853387-8854188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:8854189-8854989 Neighboring gene RNA, 5S ribosomal pseudogene 330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8884480-8884980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8884981-8885481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8946857-8947641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8947642-8948425 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:8954113-8954951 Neighboring gene chromosome 11 open reading frame 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3118 Neighboring gene achaete-scute family bHLH transcription factor 3 Neighboring gene TMEM9 domain family member B Neighboring gene TMEM9B antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Overexpression of AKIP1 promotes angiogenesis and lymphangiogenesis in human esophageal squamous cell carcinoma. Lin C, et al. Oncogene, 2015 Jan 15. PMID 24413079
    2. BCA3 contributes to the malignant progression of hepatocellular carcinoma through AKT activation and NF-κB translocation. Ma D, et al. Exp Cell Res, 2018 Jan 1. PMID 29133128
    3. Cloning and functional identification of a novel BCA3 splice. Zhang Y, et al. Genet Mol Res, 2014 Dec 18. PMID 25526186
    4. Does BCA3 Play a Role in the HIV-1 Replication Cycle? Rumlová M, et al. Viruses, 2018 Apr 20. PMID 29677171, Free PMC Article
    5. AKIP1 promotes early recurrence of hepatocellular carcinoma through activating the Wnt/β-catenin/CBP signaling pathway. Cui Y, et al. Oncogene, 2019 Jul. PMID 30936461

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ebola virus VP35 hijacks the PKA-CREB1 pathway for replication and pathogenesis by AKIP1 association.
      Title: Ebola virus VP35 hijacks the PKA-CREB1 pathway for replication and pathogenesis by AKIP1 association.
    2. Silencing of AKIP1 Suppresses the Proliferation, Migration, and Epithelial-Mesenchymal Transition Process of Glioma Cells by Upregulating DLG2.
      Title: Silencing of AKIP1 Suppresses the Proliferation, Migration, and Epithelial-Mesenchymal Transition Process of Glioma Cells by Upregulating DLG2.
    3. Correlation of A-Kinase Interacting Protein 1 With Clinical Features, Treatment Response, and Survival Profiles in Patients With Multiple Myeloma.
      Title: Correlation of A-Kinase Interacting Protein 1 With Clinical Features, Treatment Response, and Survival Profiles in Patients With Multiple Myeloma.
    4. PKA and AKIP1 interact to mediate cAMP-driven COX-2 expression: A potentially pivotal interaction in preterm and term labour.
      Title: PKA and AKIP1 interact to mediate cAMP-driven COX-2 expression: A potentially pivotal interaction in preterm and term labour.
    5. A-kinase interacting protein 1 as a potential biomarker of advanced tumor features and increased recurrence risk in papillary thyroid carcinoma patients.
      Title: A-kinase interacting protein 1 as a potential biomarker of advanced tumor features and increased recurrence risk in papillary thyroid carcinoma patients.
    6. A-kinase interacting protein 1 (AKIP1) associates with advanced overall disease condition, tumor properties, and unfavorable prognosis in hepatocellular carcinoma patients.
      Title: A-kinase interacting protein 1 (AKIP1) associates with advanced overall disease condition, tumor properties, and unfavorable prognosis in hepatocellular carcinoma patients.
    7. Identification of A-kinase interacting protein 1 as a potential biomarker for risk and prognosis of acute myeloid leukemia.
      Title: Identification of A-kinase interacting protein 1 as a potential biomarker for risk and prognosis of acute myeloid leukemia.
    8. Upregulation of a kinase interacting protein 1 in tongue squamous cell carcinoma correlates with lymph node metastasis and poor overall survival.
      Title: Upregulation of a kinase interacting protein 1 in tongue squamous cell carcinoma correlates with lymph node metastasis and poor overall survival.
    9. AKIP1 expression in tumor tissue as a new biomarker for disease monitoring and prognosis in non-small cell lung cancer: Results of a retrospective study.
      Title: AKIP1 expression in tumor tissue as a new biomarker for disease monitoring and prognosis in non-small cell lung cancer: Results of a retrospective study.
    10. A-kinase-interacting protein 1 promotes EMT and metastasis via PI3K/Akt/IKKbeta pathway in cervical cancer.
      Title: A-kinase-interacting protein 1 promotes EMT and metastasis via PI3K/Akt/IKKβ pathway in cervical cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR(D25N) directly interacts with BCA3 in cells and co-localizes with BCA3 in the cytoplasm, particularly at the mitochondria PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of non-canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in substrate adhesion-dependent cell spreading IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    A-kinase-interacting protein 1
    Names
    A kinase (PRKA) interacting protein 1
    breast cancer associated gene 3
    koyt binding protein 1
    koyt binding protein 2
    koyt binding protein 3
    proline-rich protein BCA3

    NCBI Reference Sequences (RefSeq)

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    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_030417.1 RefSeqGene

      Range
      5036..13926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206646.2 → NP_001193575.1  A-kinase-interacting protein 1 isoform b

      See identical proteins and their annotated locations for NP_001193575.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon in the 5' region compared to variant 1. This results in a shorter isoform (b) missing an internal protein segment compared to isoform a. Note, isoforms b and c are the same length, but have different sequences.
      Source sequence(s)
      AF493785, DB570956
      Consensus CDS
      CCDS55744.1
      UniProtKB/TrEMBL
      H0YCH8
      Related
      ENSP00000299576.5, ENST00000299576.9

    2. NM_001206647.2 → NP_001193576.1  A-kinase-interacting protein 1 isoform c

      See identical proteins and their annotated locations for NP_001193576.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon in the 3' region compared to variant 1. This results in a shorter isoform (c) missing an internal protein segment compared to isoform a. Note, isoforms b and c are the same length, but have different sequences.
      Source sequence(s)
      AF493784, DB570956
      Consensus CDS
      CCDS55743.1
      UniProtKB/TrEMBL
      H0YCH8
      Related
      ENSP00000310644.4, ENST00000309357.8

    3. NM_001206648.2 → NP_001193577.1  A-kinase-interacting protein 1 isoform d

      See identical proteins and their annotated locations for NP_001193577.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two in-frame coding exons compared to variant 1. This results in a shorter isoform (d) missing two internal protein segments compared to isoform a.
      Source sequence(s)
      AF493783, AW340643, DB570956
      UniProtKB/TrEMBL
      H0YCH8
      Related
      ENSP00000431602.1, ENST00000529942.1
      Conserved Domains (1) summary
      COG1470
      Location:114 → 153
      COG1470; Uncharacterized membrane protein [Function unknown]

    4. NM_020642.4 → NP_065693.2  A-kinase-interacting protein 1 isoform a

      See identical proteins and their annotated locations for NP_065693.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC026894, AF493783
      Consensus CDS
      CCDS7793.1
      UniProtKB/Swiss-Prot
      Q8NBS2, Q8TAC6, Q8TAD3, Q8TAE0, Q9NQ31
      Related
      ENSP00000310459.4, ENST00000309377.9

    RNA

    1. NR_045417.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs at the 5' end compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with the translation of the longer downstream ORF; translation of the upstream ORF renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC026894, AF493783, BC030996, BP355293

    2. NR_045418.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs at the 5' end and lacks an exon in the 3' region compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with the translation of the longer downstream ORF; translation of the upstream ORF renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC026894, AF493783, BC030996, BM706322, BP355293

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      8911189..8920079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018011.2 → XP_016873500.1  A-kinase-interacting protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q8NBS2, Q8TAC6, Q8TAD3, Q8TAE0, Q9NQ31
      Related
      ENSP00000431331.1, ENST00000534147.5
      Conserved Domains (1) summary
      COG1470
      Location:168 → 207
      COG1470; Uncharacterized membrane protein [Function unknown]

    2. XM_047427261.1 → XP_047283217.1  A-kinase-interacting protein 1 isoform X2

      Related
      ENSP00000379885.2, ENST00000396648.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      8995274..9004239
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369366.1 → XP_054225341.1  A-kinase-interacting protein 1 isoform X2

    2. XM_054369365.1 → XP_054225340.1  A-kinase-interacting protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q8NBS2, Q8TAC6, Q8TAD3, Q8TAE0, Q9NQ31

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001206645.1: Suppressed sequence

      Description
      NM_001206645.1: This RefSeq was permanently suppressed because it contains an upstream open reading frame with a strong Kozak signal, use of which will render this transcript a candidate for nonsense-mediated mRNA decay (NMD).

    2. NM_182901.3: Suppressed sequence

      Description
      NM_182901.3: This RefSeq was permanently suppressed because it contains an upstream open reading frame with a strong Kozak signal, use of which will render this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQ31.2 GenPept UniProtKB/Swiss-Prot:Q9NQ31

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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