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UniProtKB - Q02040 (AK17A_HUMAN)

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Protein

A-kinase anchor protein 17A

Gene

AKAP17A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation of pre-mRNA splicing in a PKA-dependent manner.2 Publications

Miscellaneous

The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.

GO - Molecular functioni

  • protein kinase A binding Source: UniProtKB
  • RNA binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  • B cell activation Source: UniProtKB
  • mRNA processing Source: UniProtKB-KW
  • regulation of RNA splicing Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • RNA splicing Source: UniProtKB-KW
  • signal transduction Source: UniProtKB
Complete GO annotation...

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended name:
A-kinase anchor protein 17A
Short name:
AKAP-17A
Alternative name(s):
721P
B-lymphocyte antigen
Protein XE7
Protein kinase A-anchoring protein 17A
Short name:
PRKA17A
Splicing factor, arginine/serine-rich 17A
Gene namesi
Name:AKAP17A
Synonyms:CXYorf3, DXYS155E, SFRS17A, XE7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:18783. AKAP17A.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: HPA
  • nuclear speck Source: UniProtKB
  • nucleus Source: UniProtKB
  • spliceosomal complex Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi438 – 439LL → PP: Abolishes binding to PKA-RI; when associated with 445-P-P-446. 1 Publication2
Mutagenesisi445 – 446KK → PP: Abolishes binding to PKA-RI; when associated with 438-P-P-439. 1 Publication2

Organism-specific databases

DisGeNETi8227.
OpenTargetsiENSG00000197976.
PharmGKBiPA162402969.

Polymorphism and mutation databases

BioMutaiAKAP17A.
DMDMi146291102.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000226921 – 695A-kinase anchor protein 17AAdd BLAST695

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki118Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Modified residuei537PhosphoserineCombined sources1
Modified residuei633PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ02040.
MaxQBiQ02040.
PaxDbiQ02040.
PeptideAtlasiQ02040.
PRIDEiQ02040.

PTM databases

iPTMnetiQ02040.
PhosphoSitePlusiQ02040.

Expressioni

Tissue specificityi

Widely expressed. Found in heart, brain, lung, liver, skeletal muscle, kidney and pancreas. Expressed in activated B-cells and placenta. Expressed in all cell lines tested including Jurkat-TAg, U-937 and HEK293 cells.1 Publication

Gene expression databases

BgeeiENSG00000197976.
CleanExiHS_SFRS17A.
ExpressionAtlasiQ02040. baseline and differential.
GenevisibleiQ02040. HS.

Organism-specific databases

HPAiHPA043247.
HPA051020.

Interactioni

Subunit structurei

Monomer. Component of the spliceosome. Interacts with ZRANB2 and SFRS1/ASF through its Arg/Ser-rich domain. Interacts with RI and RII subunits of PKA.3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein kinase A binding Source: UniProtKB
Complete GO annotation...

Protein-protein interaction databases

BioGridi113860. 31 interactors.
IntActiQ02040. 20 interactors.
MINTiMINT-1443812.
STRINGi9606.ENSP00000324827.

Structurei

3D structure databases

ProteinModelPortaliQ02040.
SMRiQ02040.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini147 – 256RRMAdd BLAST110

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni83 – 112PKA-RI and PKA-RII subunit binding domainAdd BLAST30
Regioni425 – 454PKA-RI-alpha subunit binding domainAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi587 – 695Arg-richAdd BLAST109

Domaini

RI-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.1 Publication

Phylogenomic databases

eggNOGiKOG2891. Eukaryota.
ENOG410XQIN. LUCA.
GeneTreeiENSGT00440000039314.
InParanoidiQ02040.
KOiK13169.
OMAiYRGFAPR.
OrthoDBiEOG091G0DV1.
PhylomeDBiQ02040.
TreeFamiTF320443.

Family and domain databases

InterProiView protein in InterPro
IPR000504. RRM_dom.
SUPFAMiSSF54928. SSF54928. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q02040-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAATIVHDT SEAVELCPAY GLYLKPITKM TISVALPQLK QPGKSISNWE 
        60         70         80         90        100
VMERLKGMVQ NHQFSTLRIS KSTMDFIRFE GEVENKSLVK SFLACLDGKT 
       110        120        130        140        150
IKLSGFSDIL KVRAAEFKID FPTRHDWDSF FRDAKDMNET LPGERPDTIH 
       160        170        180        190        200
LEGLPCKWFA LKESGSEKPS EDVLVKVFEK FGEIRNVDIP MLDPYREEMT 
       210        220        230        240        250
GRNFHTFSFG GHLNFEAYVQ YREYMGFIQA MSALRGMKLM YKGEDGKAVA 
       260        270        280        290        300
CNIKVSFDST KHLSDASIKK RQLERQKLQE LEQQREEQKR REKEAEERQR 
       310        320        330        340        350
AEERKQKELE ELERERKREE KLRKREQKQR DRELRRNQKK LEKLQAEEQK 
       360        370        380        390        400
QLQEKIKLEE RKLLLAQRNL QSIRLIAELL SRAKAVKLRE QEQKEEKLRL 
       410        420        430        440        450
QQQEERRRLQ EAELRRVEEE KERALGLQRK ERELRERLLS ILLSKKPDDS 
       460        470        480        490        500
HTHDELGVAH ADLLQPVLDI LQTVSSGCVS ATTLHPLGGQ PPAGAPKESP 
       510        520        530        540        550
AHPEADGAPK SVNGSVAEEA PCKEVQSSCR VVPEDGSPEK RCPGGVLSCI 
       560        570        580        590        600
PDNNQQPKGI PACEQNVSRK DTRSEQDKCN REPSKGRGRA TGDGLADRHK 
       610        620        630        640        650
RERSRARRAS SREDGRPRKE RRPHKKHAYK DDSPRRRSTS PDHTRSRRSH 
       660        670        680        690 
SKDRHRRERS RERRGSASRK HSRHRRRSER SRSRSPSRHR STWNR
Length:695
Mass (Da):80,735
Last modified:May 1, 2007 - v2
Checksum:i639E88ECA8006CF2
GO
Isoform 2 (identifier: Q02040-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     385-385: A → L
     386-695: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:385
Mass (Da):45,248
Checksum:i4C1E253616C969A6
GO
Isoform 3 (identifier: Q02040-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     385-445: AVKLREQEQK...ERLLSILLSK → VGGSLCSRQP...EGVALVCRSR
     446-695: Missing.

Note: No experimental confirmation available.
Show »
Length:445
Mass (Da):51,409
Checksum:i049E8E08BF58DF27
GO

Sequence cautioni

The sequence AAA36187 differs from that shown. Reason: Frameshift at position 461.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti443L → Q in AAA36187 (PubMed:1438229).Curated1
Sequence conflicti500P → A in AAA61303 (PubMed:1302606).Curated1
Sequence conflicti500P → A in AAI10497 (PubMed:15489334).Curated1
Sequence conflicti502H → P in AAA36187 (PubMed:1438229).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055353194P → S1 PublicationCorresponds to variant dbSNP:rs17852504Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024947385 – 445AVKLR…ILLSK → VGGSLCSRQPRPGCPQCPPL KCGRRHGAVSPPAAAVATKP ALMPRMTAPSREGVALVCRS R in isoform 3. 1 PublicationAdd BLAST61
Alternative sequenceiVSP_004490385A → L in isoform 2. Curated1
Alternative sequenceiVSP_004491386 – 695Missing in isoform 2. CuratedAdd BLAST310
Alternative sequenceiVSP_024948446 – 695Missing in isoform 3. 1 PublicationAdd BLAST250

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L03426 mRNA. Translation: AAA61303.1.
L03426 mRNA. Translation: AAA61304.1.
M99578 mRNA. Translation: AAA36187.1. Frameshift.
AL683807 Genomic DNA. Translation: CAI41499.1.
AL683807 Genomic DNA. Translation: CAI41501.1.
BC028151 mRNA. Translation: AAH28151.1.
BC110496 mRNA. Translation: AAI10497.1.
BC110497 mRNA. Translation: AAI10498.1.
CCDSiCCDS14116.1. [Q02040-1]
PIRiA46419.
I54325.
RefSeqiNP_005079.2. NM_005088.2. [Q02040-1]
UniGeneiHs.522572.

Genome annotation databases

EnsembliENST00000313871; ENSP00000324827; ENSG00000197976. [Q02040-1]
ENST00000474361; ENSP00000435479; ENSG00000197976. [Q02040-2]
GeneIDi8227.
KEGGihsa:8227.
UCSCiuc004cqa.4. human. [Q02040-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiAK17A_HUMAN
AccessioniPrimary (citable) accession number: Q02040
Secondary accession number(s): Q02832
, Q2TB98, Q5JQ74, Q5JQ76, Q8N6U9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: May 1, 2007
Last modified: June 7, 2017
This is version 158 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

Was originally thought to be a cell surface protein involved in B-cell activation.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot