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SPHKAP SPHK1 interactor, AKAP domain containing [ Homo sapiens (human) ]

Gene ID: 80309, updated on 3-Nov-2024

Summary

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Official Symbol
SPHKAPprovided by HGNC
Official Full Name
SPHK1 interactor, AKAP domain containingprovided by HGNC
Primary source
HGNC:HGNC:30619
See related
Ensembl:ENSG00000153820 MIM:611646; AllianceGenome:HGNC:30619
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SKIP
Summary
Enables protein kinase A binding activity. Predicted to be located in Z disc. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in heart (RPKM 11.8), brain (RPKM 8.0) and 1 other tissue See more
Orthologs
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Genomic context

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See SPHKAP in Genome Data Viewer
Location:
2q36.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (227979955..228181687, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (228462353..228663979, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (228844671..229046403, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CRIPTO pseudogene 2 Neighboring gene dynein assembly factor with WD repeats 1 Neighboring gene uncharacterized LOC105373918 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:228894295-228894914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17204 Neighboring gene uncharacterized LOC107985993 Neighboring gene RNA, U6 small nuclear 624, pseudogene Neighboring gene SNF8 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:229290319-229291518 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:229372401-229373053 Neighboring gene long intergenic non-protein coding RNA 1807 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:229406198-229407397 Neighboring gene uncharacterized LOC105373921

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 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?
  1. SphK1 Promotes Cancer Progression through Activating JAK/STAT Pathway and Up-Regulating S1PR1 Expression in Colon Cancer Cells.
    Title: SphK1 Promotes Cancer Progression through Activating JAK/STAT Pathway and Up-Regulating S1PR1 Expression in Colon Cancer Cells.
  2. Repression of sphingosine kinase (SK)-interacting protein (SKIP) in acute myeloid leukemia diminishes SK activity and its re-expression restores SK function.
    Title: Repression of sphingosine kinase (SK)-interacting protein (SKIP) in acute myeloid leukemia diminishes SK activity and its re-expression restores SK function.
  3. Results showed that DPP6, SPHKAP and ID4 were down regulated in acute myeloid leukemia (AML) patients.
    Title: Genome wide analysis of acute myeloid leukemia reveal leukemia specific methylome and subtype specific hypomethylation of repeats.
  4. SKIP is an entirely specific type I A-kinase anchoring protein that can sequester two molecules of protein kinase A at mitochondria.
    Title: An entirely specific type I A-kinase anchoring protein that can sequester two molecules of protein kinase A at mitochondria.
  5. sphingosine kinase type 1-interacting protein can be considered as the first mammalian A-kinase-anchoring proteins that preferentially binds to regulatory subunit 1 of cAMP-dependent protein kinase.
    Title: Sphingosine kinase interacting protein is an A-kinase anchoring protein specific for type I cAMP-dependent protein kinase.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  7. HIF-1 and HIF-2 have roles in SK1 upregulation during hypoxia in glioma cells
    Title: Sphingosine kinase 1 is up-regulated during hypoxia in U87MG glioma cells. Role of hypoxia-inducible factors 1 and 2.
  8. experiments demonstrate that sphingosine kinase 1/sphingosine-1-phosphate are important components of the transforming growth factor-beta signaling pathway involved in up-regulation of the tissue inhibitor of metalloproteinase-1 (TIMP-1)
    Title: Sphingosine kinase 1 (SPHK1) is induced by transforming growth factor-beta and mediates TIMP-1 up-regulation.
  9. cloning and characterization; results indicate that SKIP is a novel protein likely to play a regulatory role in the modulation of sphingosine kinase type 1 (SPHK1) activity
    Title: Cloning and characterization of a protein kinase A anchoring protein (AKAP)-related protein that interacts with and regulates sphingosine kinase 1 activity.
  10. Hyperglycemia stimulates SK1 activity via protein kinase C and oxidative stress-dependent pathways, leading to decreased apoptosis in vvascular smooth muscle.
    Title: Activation of sphingosine kinase-1 mediates inhibition of vascular smooth muscle cell apoptosis by hyperglycemia.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating.
EBI GWAS Catalog

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

Homology

Clone Names

  • KIAA1678, MGC132614, MGC132616, DKFZp781H143, DKFZp781J171

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
A-kinase anchor protein SPHKAP
Names
SPHK1 (sphingosine kinase type 1) interacting protein
SPHK1-interactor and AKAP domain-containing protein
sphingosine kinase type 1-interacting protein

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.

mRNA and Protein(s)

  1. NM_001142644.2 → NP_001136116.1  A-kinase anchor protein SPHKAP isoform 1

    See identical proteins and their annotated locations for NP_001136116.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB051465, AC109825, AK095042, BC104956
    Consensus CDS
    CCDS46537.1
    UniProtKB/Swiss-Prot
    Q2M3C7, Q68DA3, Q68DR8, Q9C0I5
    Related
    ENSP00000375909.3, ENST00000392056.8
    Conserved Domains (1) summary
    cl14906
    Location:1597 → 1697
    AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

  2. NM_030623.4 → NP_085126.2  A-kinase anchor protein SPHKAP isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1, and encodes a shorter isoform (2) than isoform 1.
    Source sequence(s)
    AB051465, AC109825, AK095042, AK127071, BC104954, CR749494
    Consensus CDS
    CCDS33389.1
    UniProtKB/Swiss-Prot
    Q2M3C7
    Related
    ENSP00000339886.5, ENST00000344657.5
    Conserved Domains (1) summary
    cl14906
    Location:1568 → 1668
    AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    227979955..228181687 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712778.5 → XP_006712841.1  A-kinase anchor protein SPHKAP isoform X3

    Conserved Domains (1) summary
    cl14906
    Location:1593 → 1693
    AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

  2. XM_006712777.4 → XP_006712840.1  A-kinase anchor protein SPHKAP isoform X1

    Conserved Domains (1) summary
    cl14906
    Location:1622 → 1722
    AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

  3. XM_005246870.5 → XP_005246927.1  A-kinase anchor protein SPHKAP isoform X4

    Conserved Domains (1) summary
    cl14906
    Location:1580 → 1680
    AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

  4. XM_011511925.3 → XP_011510227.1  A-kinase anchor protein SPHKAP isoform X2

    See identical proteins and their annotated locations for XP_011510227.1

    Conserved Domains (1) summary
    cl14906
    Location:1612 → 1712
    AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    228462353..228663979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344055.1 → XP_054200030.1  A-kinase anchor protein SPHKAP isoform X3

  2. XM_054344053.1 → XP_054200028.1  A-kinase anchor protein SPHKAP isoform X1

  3. XM_054344056.1 → XP_054200031.1  A-kinase anchor protein SPHKAP isoform X4

  4. XM_054344054.1 → XP_054200029.1  A-kinase anchor protein SPHKAP isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2M3C7.1 GenPept UniProtKB/Swiss-Prot:Q2M3C7

Gene LinkOut

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