SPEG

Protein identityUniProt · HPA

UniProt accession

Q15772

Gene

SPEG

Ensembl

ENSG00000072195

Chromosome

2

Canonical length

3267 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Vesicles

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

3267 residues, UniProt reviewed canonical sequence.

>Q15772|SPEG
     1  MQKARGTRGE DAGTRAPPSP GVPPKRAKVG AGGGAPVAVA GAPVFLRPLK NAAVCAGSDV
    61  RLRVVVSGTP QPSLRWFRDG QLLPAPAPEP SCLWLRRCGA QDAGVYSCMA QNERGRASCE
   121  AVLTVLEVGD SETAEDDISD VQGTQRLELR DDGAFSTPTG GSDTLVGTSL DTPPTSVTGT
   181  SEEQVSWWGS GQTVLEQEAG SGGGTRRLPG SPRQAQATGA GPRHLGVEPL VRASRANLVG
   241  ASWGSEDSLS VASDLYGSAF SLYRGRALSI HVSVPQSGLR REEPDLQPQL ASEAPRRPAQ
   301  PPPSKSALLP PPSPRVGKRS PPGPPAQPAA TPTSPHRRTQ EPVLPEDTTT EEKRGKKSKS
   361  SGPSLAGTAE SRPQTPLSEA SGRLSALGRS PRLVRAGSRI LDKLQFFEER RRSLERSDSP
   421  PAPLRPWVPL RKARSLEQPK SERGAPWGTP GASQEELRAP GSVAERRRLF QQKAASLDER
   481  TRQRSPASDL ELRFAQELGR IRRSTSREEL VRSHESLRAT LQRAPSPREP GEPPLFSRPS
   541  TPKTSRAVSP AAAQPPSPSS AEKPGDEPGR PRSRGPAGRT EPGEGPQQEV RRRDQFPLTR
   601  SRAIQECRSP VPPPAADPPE ARTKAPPGRK REPPAQAVRF LPWATPGLEG AAVPQTLEKN
   661  RAGPEAEKRL RRGPEEDGPW GPWDRRGARS QGKGRRARPT SPELESSDDS YVSAGEEPLE
   721  APVFEIPLQN VVVAPGADVL LKCIITANPP PQVSWHKDGS ALRSEGRLLL RAEGERHTLL
   781  LREARAADAG SYMATATNEL GQATCAASLT VRPGGSTSPF SSPITSDEEY LSPPEEFPEP
   841  GETWPRTPTM KPSPSQNRRS SDTGSKAPPT FKVSLMDQSV REGQDVIMSI RVQGEPKPVV
   901  SWLRNRQPVR PDQRRFAEEA EGGLCRLRIL AAERGDAGFY TCKAVNEYGA RQCEARLEVR
   961  AHPESRSLAV LAPLQDVDVG AGEMALFECL VAGPTDVEVD WLCRGRLLQP ALLKCKMHFD
  1021  GRKCKLLLTS VHEDDSGVYT CKLSTAKDEL TCSARLTVRP SLAPLFTRLL EDVEVLEGRA
  1081  ARFDCKISGT PPPVVTWTHF GCPMEESENL RLRQDGGLHS LHIAHVGSED EGLYAVSAVN
  1141  THGQAHCSAQ LYVEEPRTAA SGPSSKLEKM PSIPEEPEQG ELERLSIPDF LRPLQDLEVG
  1201  LAKEAMLECQ VTGLPYPTIS WFHNGHRIQS SDDRRMTQYR DVHRLVFPAV GPQHAGVYKS
  1261  VIANKLGKAA CYAHLYVTDV VPGPPDGAPQ VVAVTGRMVT LTWNPPRSLD MAIDPDSLTY
  1321  TVQHQVLGSD QWTALVTGLR EPGWAATGLR KGVQHIFRVL STTVKSSSKP SPPSEPVQLL
  1381  EHGPTLEEAP AMLDKPDIVY VVEGQPASVT VTFNHVEAQV VWRSCRGALL EARAGVYELS
  1441  QPDDDQYCLR ICRVSRRDMG ALTCTARNRH GTQTCSVTLE LAEAPRFESI MEDVEVGAGE
  1501  TARFAVVVEG KPLPDIMWYK DEVLLTESSH VSFVYEENEC SLVVLSTGAQ DGGVYTCTAQ
  1561  NLAGEVSCKA ELAVHSAQTA MEVEGVGEDE DHRGRRLSDF YDIHQEIGRG AFSYLRRIVE
  1621  RSSGLEFAAK FIPSQAKPKA SARREARLLA RLQHDCVLYF HEAFERRRGL VIVTELCTEE
  1681  LLERIARKPT VCESEIRAYM RQVLEGIHYL HQSHVLHLDV KPENLLVWDG AAGEQQVRIC
  1741  DFGNAQELTP GEPQYCQYGT PEFVAPEIVN QSPVSGVTDI WPVGVVAFLC LTGISPFVGE
  1801  NDRTTLMNIR NYNVAFEETT FLSLSREARG FLIKVLVQDR LRPTAEETLE HPWFKTQAKG
  1861  AEVSTDHLKL FLSRRRWQRS QISYKCHLVL RPIPELLRAP PERVWVTMPR RPPPSGGLSS
  1921  SSDSEEEELE ELPSVPRPLQ PEFSGSRVSL TDIPTEDEAL GTPETGAATP MDWQEQGRAP
  1981  SQDQEAPSPE ALPSPGQEPA AGASPRRGEL RRGSSAESAL PRAGPRELGR GLHKAASVEL
  2041  PQRRSPSPGA TRLARGGLGE GEYAQRLQAL RQRLLRGGPE DGKVSGLRGP LLESLGGRAR
  2101  DPRMARAASS EAAPHHQPPL ENRGLQKSSS FSQGEAEPRG RHRRAGAPLE IPVARLGARR
  2161  LQESPSLSAL SEAQPSSPAR PSAPKPSTPK SAEPSATTPS DAPQPPAPQP AQDKAPEPRP
  2221  EPVRASKPAP PPQALQTLAL PLTPYAQIIQ SLQLSGHAQG PSQGPAAPPS EPKPHAAVFA
  2281  RVASPPPGAP EKRVPSAGGP PVLAEKARVP TVPPRPGSSL SSSIENLESE AVFEAKFKRS
  2341  RESPLSLGLR LLSRSRSEER GPFRGAEEED GIYRPSPAGT PLELVRRPER SRSVQDLRAV
  2401  GEPGLVRRLS LSLSQRLRRT PPAQRHPAWE ARGGDGESSE GGSSARGSPV LAMRRRLSFT
  2461  LERLSSRLQR SGSSEDSGGA SGRSTPLFGR LRRATSEGES LRRLGLPHNQ LAAQAGATTP
  2521  SAESLGSEAS ATSGSSAPGE SRSRLRWGFS RPRKDKGLSP PNLSASVQEE LGHQYVRSES
  2581  DFPPVFHIKL KDQVLLEGEA ATLLCLPAAC PAPHISWMKD KKSLRSEPSV IIVSCKDGRQ
  2641  LLSIPRAGKR HAGLYECSAT NVLGSITSSC TVAVARVPGK LAPPEVPQTY QDTALVLWKP
  2701  GDSRAPCTYT LERRVDGESV WHPVSSGIPD CYYNVTHLPV GVTVRFRVAC ANRAGQGPFS
  2761  NSSEKVFVRG TQDSSAVPSA AHQEAPVTSR PARARPPDSP TSLAPPLAPA APTPPSVTVS
  2821  PSSPPTPPSQ ALSSLKAVGP PPQTPPRRHR GLQAARPAEP TLPSTHVTPS EPKPFVLDTG
  2881  TPIPASTPQG VKPVSSSTPV YVVTSFVSAP PAPEPPAPEP PPEPTKVTVQ SLSPAKEVVS
  2941  SPGSSPRSSP RPEGTTLRQG PPQKPYTFLE EKARGRFGVV RACRENATGR TFVAKIVPYA
  3001  AEGKRRVLQE YEVLRTLHHE RIMSLHEAYI TPRYLVLIAE SCGNRELLCG LSDRFRYSED
  3061  DVATYMVQLL QGLDYLHGHH VLHLDIKPDN LLLAPDNALK IVDFGSAQPY NPQALRPLGH
  3121  RTGTLEFMAP EMVKGEPIGS ATDIWGAGVL TYIMLSGRSP FYEPDPQETE ARIVGGRFDA
  3181  FQLYPNTSQS ATLFLRKVLS VHPWSRPSLQ DCLAHPWLQD AYLMKLRRQT LTFTTNRLKE
  3241  FLGEQRRRRA EAATRHKVLL RSYPGGP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPEG can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0

Highest tissue expression

207 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPEG.

Disease | AllUniProt

Conditions SPEG is implicated in, by any mechanism.

• Myopathy, centronuclear, 5 (CNM5) MIM:615959

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 2,280 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Myopathy, centronuclear, 5
• SPEG-related congenital myopathy
• SPEG-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.29

gnomAD pLI

0.92

gnomAD missense Z

2.78

DepMap mean gene effect

0

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• muscle cell differentiation
• muscle organ development
• negative regulation of cell population proliferation

Molecular functions

• ATP binding
• protein kinase activity
• protein serine kinase activity
• protein serine/threonine kinase activity

Cellular components

• nucleus

Protein domainsUniProt · Pfam · InterPro

• Protein kinase domain
• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Fibronectin type III
• Immunoglobulin-like domain
• Serine/threonine-protein kinase, active site
• Protein kinase-like domain superfamily
• Immunoglobulin I-set
• Immunoglobulin-like fold
• Protein kinase, ATP binding site
• Fibronectin type III superfamily
• Immunoglobulin-like domain superfamily
• Protein kinase domain
• Immunoglobulin I-set domain
• Unstructured region on SPEG complex protein

KeywordsUniProt

• Alternative promoter usage
• ATP-binding
• Differentiation
• Disulfide bond
• Immunoglobulin domain
• Kinase
• Methylation
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• Repeat
• Serine/threonine-protein kinase
• Transferase

InteractionsUniProt · HPA

Protein binding partners of SPEG in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MTM1