AKAP17A A-kinase anchoring protein 17A [Homo sapiens (human)] - Gene

Summary

Official Symbol: AKAP17Aprovided by HGNC
Official Full Name: A-kinase anchoring protein 17Aprovided by HGNC
Primary source: HGNC:HGNC:18783
See related: Ensembl:ENSG00000197976 Ensembl:ENSG00000292343 MIM:312095; MIM:465000; AllianceGenome:HGNC:18783
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: XE7; 721P; XE7Y; CCDC133; CXYorf3; PRKA17A; SFRS17A; AKAP-17A; DXYS155E
Summary: This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010]
Expression: Ubiquitous expression in spleen (RPKM 26.3), bone marrow (RPKM 23.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: X;Y

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (1591604..1602520)
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (1591604..1602520)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (1393022..1403889)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (1455997..1466654)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (1710497..1721413)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (1660497..1671413)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

The expression of splicing factor gene AKAP17A was associated with Cognitive Decline as measured by the Mini-Mental State Examinations and also with a decline in Physical Ability as measured by hand-grip strength in ageing human population.
Title: The transcript expression levels of HNRNPM, HNRNPA0 and AKAP17A splicing factors may be predictively associated with ageing phenotypes in human peripheral blood.
The spliceosomal component XE7 resembles an SR-related splicing protein, and can influence alternative splicing.
Title: XE7: a novel splicing factor that interacts with ASF/SF2 and ZNF265.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXYS155E (e-PCR)
- UniSTS:16658

RH69211 (e-PCR)
- UniSTS:88386

CXYorf3 (e-PCR)
- UniSTS:506487

SHGC-5417 (e-PCR)
- UniSTS:64420

SHGC-64829 (e-PCR)
- UniSTS:167670

Clone Names

FLJ98315, MGC39904, MGC125365, MGC125366

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase A binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell activation	NAS Non-traceable Author Statement more info	PubMed
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of RNA splicing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nuclear speck	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: A-kinase anchor protein 17A

Names: A kinase (PRKA) anchor protein 17A; B-lymphocyte surface antigen; protein kinase A-anchoring protein 17A; pseudoautosomal gene XE7; splicing factor, arginine/serine-rich 17A

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_021470.1 RefSeqGene

Range

5012..15928

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005088.3 → NP_005079.2 A-kinase anchor protein 17A isoform 1

See identical proteins and their annotated locations for NP_005079.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

BC015800, BC016935, BC028151, BM046630, BM713425, M99578

Consensus CDS

CCDS14116.1

UniProtKB/Swiss-Prot

Q02040, Q02832, Q2TB98, Q5JQ74, Q5JQ76, Q8N6U9

Related

ENSP00000324827.3, ENSP00000518597.1, ENST00000313871.9, ENST00000711132.1

Conserved Domains (3) summary

cd12264
Location:143 → 265

RRM_AKAP17A; RNA recognition motif found in A-kinase anchor protein 17A (AKAP-17A) and similar proteins

cd16269
Location:424 → 433

GBP_C; coiled coil [structural motif]

cl20817
Location:345 → 433

GBP_C; Guanylate-binding protein, C-terminal domain

RNA

NR_027383.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate coding exon that results in a frameshift and prematurely truncated open reading frame. The transcript is predicted to be subject to nonsense-mediated decay (NMD) and thus the predicted protein product is not annotated on the record.

Source sequence(s)

AL683807, BC015800, BC016935, BC028151, BC110497, L03426, M99578

Related

ENST00000474361.6, ENST00000711186.1