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

Summary

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

Location:: 11p15.4

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (8911189..8920079)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (8995274..9004239)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (8932736..8941626)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH93941 (e-PCR)
- UniSTS:89399

SHGC-76220 (e-PCR)
- UniSTS:24807

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

NG_030417.1 RefSeqGene

Range

5036..13926

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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]
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

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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

8911189..8920079

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000379885.2, ENST00000396648.6

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

8995274..9004239

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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).
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).