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SPEG SPEG complex locus [ Homo sapiens (human) ]

Gene ID: 10290, updated on 5-Aug-2018

Summary

Official Symbol
SPEGprovided by HGNC
Official Full Name
SPEG complex locusprovided by HGNC
Primary source
HGNC:HGNC:16901
See related
Ensembl:ENSG00000072195 MIM:615950; Vega:OTTHUMG00000058925
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
BPEG; CNM5; APEG1; APEG-1; SPEGbeta; SPEGalpha
Summary
This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
Expression
Broad expression in endometrium (RPKM 4.8), prostate (RPKM 4.5) and 17 other tissues See more
Orthologs

Genomic context

See SPEG in Genome Data Viewer
Location:
2q35
Exon count:
50
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (219434215..219493632)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220299552..220358354)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene desmin locus control region Neighboring gene VISTA enhancer hs2169 Neighboring gene desmin Neighboring gene uncharacterized LOC105373885 Neighboring gene CAVP-target protein-like Neighboring gene GDP-mannose pyrophosphorylase A

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1297, MGC12676

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cardiovascular system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
striated muscle preferentially expressed protein kinase
Names
aortic preferentially expressed gene 1
aortic preferentially expressed protein 1
nuclear protein, marker for differentiated aortic smooth muscle and down-regulated with vascular injury
NP_001166947.1
NP_005867.3
XP_005246294.1
XP_005246296.1
XP_005246297.1
XP_005246298.1
XP_005246299.1
XP_006712252.1
XP_006712256.1
XP_011508781.1
XP_011508785.2
XP_016858646.1
XP_016858647.1
XP_016858648.1
XP_016858649.1
XP_016858650.1
XP_016858651.1
XP_024308294.1

NCBI Reference Sequences (RefSeq)

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_051022.1 RefSeqGene

    Range
    5764..64418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173476.1NP_001166947.1  striated muscle preferentially expressed protein kinase isoform 4

    See identical proteins and their annotated locations for NP_001166947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 4) is shorter than isoform 1. This variant corresponds to the mouse APEG-1 variant described in PubMed ID: 10973969.
    Source sequence(s)
    AC053503, BM677138, DA063220
    Consensus CDS
    CCDS54432.1
    UniProtKB/Swiss-Prot
    Q15772
    Related
    ENSP00000379919.1, OTTHUMP00000196351, ENST00000396688.5, OTTHUMT00000130254
    Conserved Domains (2) summary
    pfam07679
    Location:20110
    I-set; Immunoglobulin I-set domain
    pfam16650
    Location:119
    SPEG_u2; Unstructured region on SPEG complex protein
  2. NM_005876.4NP_005867.3  striated muscle preferentially expressed protein kinase isoform 1

    See identical proteins and their annotated locations for NP_005867.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1). This variant corresponds to the mouse SPEGbeta variant described in PubMed ID: 10973969.
    Source sequence(s)
    AC053503
    Consensus CDS
    CCDS42824.1
    UniProtKB/Swiss-Prot
    Q15772
    Related
    ENSP00000311684.7, OTTHUMP00000064868, ENST00000312358.11, OTTHUMT00000130252
    Conserved Domains (8) summary
    cd00096
    Location:15021571
    Ig; Immunoglobulin domain
    smart00408
    Location:882949
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:29663218
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam07679
    Location:722811
    I-set; Immunoglobulin I-set domain
    cd14108
    Location:15981854
    STKc_SPEG_rpt1; Catalytic kinase domain, first repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cd14111
    Location:29623218
    STKc_SPEG_rpt2; Catalytic kinase domain, second repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    pfam16650
    Location:812868
    SPEG_u2; Unstructured region on SPEG complex protein
    cl11960
    Location:745812
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    219434215..219493632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003157.1XP_016858646.1  striated muscle preferentially expressed protein kinase isoform X2

  2. XM_011510483.2XP_011508785.2  striated muscle preferentially expressed protein kinase isoform X1

  3. XM_011510479.2XP_011508781.1  striated muscle preferentially expressed protein kinase isoform X3

    Conserved Domains (8) summary
    cd00096
    Location:15121581
    Ig; Immunoglobulin domain
    smart00408
    Location:892959
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:29763228
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam07679
    Location:732821
    I-set; Immunoglobulin I-set domain
    cd14108
    Location:16081864
    STKc_SPEG_rpt1; Catalytic kinase domain, first repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cd14111
    Location:29723228
    STKc_SPEG_rpt2; Catalytic kinase domain, second repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    pfam16650
    Location:822878
    SPEG_u2; Unstructured region on SPEG complex protein
    cl11960
    Location:755822
    Ig; Immunoglobulin domain
  4. XM_006712189.3XP_006712252.1  striated muscle preferentially expressed protein kinase isoform X6

    Conserved Domains (8) summary
    cd00096
    Location:13981467
    Ig; Immunoglobulin domain
    smart00408
    Location:778845
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:28623114
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam07679
    Location:618707
    I-set; Immunoglobulin I-set domain
    cd14108
    Location:14941750
    STKc_SPEG_rpt1; Catalytic kinase domain, first repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cd14111
    Location:28583114
    STKc_SPEG_rpt2; Catalytic kinase domain, second repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    pfam16650
    Location:708764
    SPEG_u2; Unstructured region on SPEG complex protein
    cl11960
    Location:641708
    Ig; Immunoglobulin domain
  5. XM_005246237.2XP_005246294.1  striated muscle preferentially expressed protein kinase isoform X5

    Conserved Domains (8) summary
    cd00096
    Location:14081477
    Ig; Immunoglobulin domain
    smart00408
    Location:788855
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:28723124
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam07679
    Location:628717
    I-set; Immunoglobulin I-set domain
    cd14108
    Location:15041760
    STKc_SPEG_rpt1; Catalytic kinase domain, first repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cd14111
    Location:28683124
    STKc_SPEG_rpt2; Catalytic kinase domain, second repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    pfam16650
    Location:718774
    SPEG_u2; Unstructured region on SPEG complex protein
    cl11960
    Location:651718
    Ig; Immunoglobulin domain
  6. XM_005246239.2XP_005246296.1  striated muscle preferentially expressed protein kinase isoform X7

    Conserved Domains (8) summary
    cd00096
    Location:710779
    Ig; Immunoglobulin domain
    smart00408
    Location:90157
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:21742426
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam07679
    Location:693782
    I-set; Immunoglobulin I-set domain
    cd14108
    Location:8061062
    STKc_SPEG_rpt1; Catalytic kinase domain, first repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cd14111
    Location:21702426
    STKc_SPEG_rpt2; Catalytic kinase domain, second repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    pfam16650
    Location:2076
    SPEG_u2; Unstructured region on SPEG complex protein
    cl11960
    Location:413485
    Ig; Immunoglobulin domain
  7. XM_017003158.2XP_016858647.1  striated muscle preferentially expressed protein kinase isoform X4

    Conserved Domains (7) summary
    cd00096
    Location:653722
    Ig; Immunoglobulin domain
    smart00408
    Location:33100
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:21172369
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam07679
    Location:636725
    I-set; Immunoglobulin I-set domain
    cd14108
    Location:7491005
    STKc_SPEG_rpt1; Catalytic kinase domain, first repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cd14111
    Location:21132369
    STKc_SPEG_rpt2; Catalytic kinase domain, second repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cl11960
    Location:356428
    Ig; Immunoglobulin domain
  8. XM_017003159.2XP_016858648.1  striated muscle preferentially expressed protein kinase isoform X8

  9. XM_017003161.2XP_016858650.1  striated muscle preferentially expressed protein kinase isoform X11

  10. XM_017003162.2XP_016858651.1  striated muscle preferentially expressed protein kinase isoform X12

    UniProtKB/Swiss-Prot
    Q15772
    Conserved Domains (3) summary
    smart00408
    Location:90157
    IGc2; Immunoglobulin C-2 Type
    pfam07679
    Location:77167
    I-set; Immunoglobulin I-set domain
    pfam16650
    Location:2076
    SPEG_u2; Unstructured region on SPEG complex protein
  11. XM_024452526.1XP_024308294.1  striated muscle preferentially expressed protein kinase isoform X13

    Conserved Domains (2) summary
    pfam07679
    Location:20110
    I-set; Immunoglobulin I-set domain
    pfam16650
    Location:119
    SPEG_u2; Unstructured region on SPEG complex protein
  12. XM_006712193.3XP_006712256.1  striated muscle preferentially expressed protein kinase isoform X4

    See identical proteins and their annotated locations for XP_006712256.1

    Conserved Domains (7) summary
    cd00096
    Location:653722
    Ig; Immunoglobulin domain
    smart00408
    Location:33100
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:21172369
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam07679
    Location:636725
    I-set; Immunoglobulin I-set domain
    cd14108
    Location:7491005
    STKc_SPEG_rpt1; Catalytic kinase domain, first repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cd14111
    Location:21132369
    STKc_SPEG_rpt2; Catalytic kinase domain, second repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cl11960
    Location:356428
    Ig; Immunoglobulin domain
  13. XM_005246240.2XP_005246297.1  striated muscle preferentially expressed protein kinase isoform X4

    See identical proteins and their annotated locations for XP_005246297.1

    Conserved Domains (7) summary
    cd00096
    Location:653722
    Ig; Immunoglobulin domain
    smart00408
    Location:33100
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:21172369
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam07679
    Location:636725
    I-set; Immunoglobulin I-set domain
    cd14108
    Location:7491005
    STKc_SPEG_rpt1; Catalytic kinase domain, first repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cd14111
    Location:21132369
    STKc_SPEG_rpt2; Catalytic kinase domain, second repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cl11960
    Location:356428
    Ig; Immunoglobulin domain
  14. XM_005246241.1XP_005246298.1  striated muscle preferentially expressed protein kinase isoform X4

    See identical proteins and their annotated locations for XP_005246298.1

    Conserved Domains (7) summary
    cd00096
    Location:653722
    Ig; Immunoglobulin domain
    smart00408
    Location:33100
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:21172369
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam07679
    Location:636725
    I-set; Immunoglobulin I-set domain
    cd14108
    Location:7491005
    STKc_SPEG_rpt1; Catalytic kinase domain, first repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cd14111
    Location:21132369
    STKc_SPEG_rpt2; Catalytic kinase domain, second repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cl11960
    Location:356428
    Ig; Immunoglobulin domain
  15. XM_005246242.4XP_005246299.1  striated muscle preferentially expressed protein kinase isoform X9

    Conserved Domains (8) summary
    cd00096
    Location:715784
    Ig; Immunoglobulin domain
    smart00408
    Location:95162
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:21792431
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    pfam07679
    Location:698787
    I-set; Immunoglobulin I-set domain
    cd14108
    Location:8111067
    STKc_SPEG_rpt1; Catalytic kinase domain, first repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    cd14111
    Location:21752431
    STKc_SPEG_rpt2; Catalytic kinase domain, second repeat, of Giant Serine/Threonine Kinase Striated muscle preferentially expressed protein kinase
    pfam16650
    Location:2781
    SPEG_u2; Unstructured region on SPEG complex protein
    cl11960
    Location:418490
    Ig; Immunoglobulin domain
  16. XM_017003160.1XP_016858649.1  striated muscle preferentially expressed protein kinase isoform X10

RNA

  1. XR_001738587.2 RNA Sequence

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