SRCAP

Protein identityUniProt · HPA

UniProt accession

Q6ZRS2

Gene

SRCAP

Ensembl

ENSG00000080603

Chromosome

16

Canonical length

3230 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Golgi apparatus

OverviewNCBI Gene

This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

3230 residues, UniProt reviewed canonical sequence.

>Q6ZRS2|SRCAP
     1  MQSSPSPAHP QLPVLQTQMV SDGMTGSNPV SPASSSSPAS SGAGGISPQH IAQDSSLDGP
    61  PGPPDGATVP LEGFSLSQAA DLANKGPKWE KSHAEIAEQA KHEAEIETRI AELRKEGFWS
   121  LKRLPKVPEP PRPKGHWDYL CEEMQWLSAD FAQERRWKRG VARKVVRMVI RHHEEQRQKE
   181  ERARREEQAK LRRIASTMAK DVRQFWSNVE KVVQFKQQSR LEEKRKKALD LHLDFIVGQT
   241  EKYSDLLSQS LNQPLTSSKA GSSPCLGSSS AASSPPPPAS RLDDEDGDFQ PQEDEEEDDE
   301  ETIEVEEQQE GNDAEAQRRE IELLRREGEL PLEELLRSLP PQLLEGPSSP SQTPSSHDSD
   361  TRDGPEEGAE EEPPQVLEIK PPPSAVTQRN KQPWHPDEDD EEFTANEEEA EDEEDTIAAE
   421  EQLEGEVDHA MELSELAREG ELSMEELLQQ YAGAYAPGSG SSEDEDEDEV DANSSDCEPE
   481  GPVEAEEPPQ EDSSSQSDSV EDRSEDEEDE HSEEEETSGS SASEESESEE SEDAQSQSQA
   541  DEEEEDDDFG VEYLLARDEE QSEADAGSGP PTPGPTTLGP KKEITDIAAA AESLQPKGYT
   601  LATTQVKTPI PLLLRGQLRE YQHIGLDWLV TMYEKKLNGI LADEMGLGKT IQTISLLAHL
   661  ACEKGNWGPH LIIVPTSVML NWEMELKRWC PSFKILTYYG AQKERKLKRQ GWTKPNAFHV
   721  CITSYKLVLQ DHQAFRRKNW RYLILDEAQN IKNFKSQRWQ SLLNFNSQRR LLLTGTPLQN
   781  SLMELWSLMH FLMPHVFQSH REFKEWFSNP LTGMIEGSQE YNEGLVKRLH KVLRPFLLRR
   841  VKVDVEKQMP KKYEHVIRCR LSKRQRCLYD DFMAQTTTKE TLATGHFMSV INILMQLRKV
   901  CNHPNLFDPR PVTSPFITPG ICFSTASLVL RATDVHPLQR IDMGRFDLIG LEGRVSRYEA
   961  DTFLPRHRLS RRVLLEVATA PDPPPRPKPV KMKVNRMLQP VPKQEGRTVV VVNNPRAPLG
  1021  PVPVRPPPGP ELSAQPTPGP VPQVLPASLM VSASPAGPPL IPASRPPGPV LLPPLQPNSG
  1081  SLPQVLPSPL GVLSGTSRPP TPTLSLKPTP PAPVRLSPAP PPGSSSLLKP LTVPPGYTFP
  1141  PAAATTTSTT TATATTTAVP APTPAPQRLI LSPDMQARLP SGEVVSIGQL ASLAQRPVAN
  1201  AGGSKPLTFQ IQGNKLTLTG AQVRQLAVGQ PRPLQRNVVH LVSAGGQHHL ISQPAHVALI
  1261  QAVAPTPGPT PVSVLPSSTP STTPAPTGLS LPLAANQVPP TMVNNTGVVK IVVRQAPRDG
  1321  LTPVPPLAPA PRPPSSGLPA VLNPRPTLTP GRLPTPTLGT ARAPMPTPTL VRPLLKLVHS
  1381  PSPEVSASAP GAAPLTISSP LHVPSSLPGP ASSPMPIPNS SPLASPVSST VSVPLSSSLP
  1441  ISVPTTLPAP ASAPLTIPIS APLTVSASGP ALLTSVTPPL APVVPAAPGP PSLAPSGASP
  1501  SASALTLGLA TAPSLSSSQT PGHPLLLAPT SSHVPGLNST VAPACSPVLV PASALASPFP
  1561  SAPNPAPAQA SLLAPASSAS QALATPLAPM AAPQTAILAP SPAPPLAPLP VLAPSPGAAP
  1621  VLASSQTPVP VMAPSSTPGT SLASASPVPA PTPVLAPSST QTMLPAPVPS PLPSPASTQT
  1681  LALAPALAPT LGGSSPSQTL SLGTGNPQGP FPTQTLSLTP ASSLVPTPAQ TLSLAPGPPL
  1741  GPTQTLSLAP APPLAPASPV GPAPAHTLTL APASSSASLL APASVQTLTL SPAPVPTLGP
  1801  AAAQTLALAP ASTQSPASQA SSLVVSASGA APLPVTMVSR LPVSKDEPDT LTLRSGPPSP
  1861  PSTATSFGGP RPRRQPPPPP RSPFYLDSLE EKRKRQRSER LERIFQLSEA HGALAPVYGT
  1921  EVLDFCTLPQ PVASPIGPRS PGPSHPTFWT YTEAAHRAVL FPQQRLDQLS EIIERFIFVM
  1981  PPVEAPPPSL HACHPPPWLA PRQAAFQEQL ASELWPRARP LHRIVCNMRT QFPDLRLIQY
  2041  DCGKLQTLAV LLRQLKAEGH RVLIFTQMTR MLDVLEQFLT YHGHLYLRLD GSTRVEQRQA
  2101  LMERFNADKR IFCFILSTRS GGVGVNLTGA DTVVFYDSDW NPTMDAQAQD RCHRIGQTRD
  2161  VHIYRLISER TVEENILKKA NQKRMLGDMA IEGGNFTTAY FKQQTIRELF DMPLEEPSSS
  2221  SVPSAPEEEE ETVASKQTHI LEQALCRAED EEDIRAATQA KAEQVAELAE FNENDGFPAG
  2281  EGEEAGRPGA EDEEMSRAEQ EIAALVEQLT PIERYAMKFL EASLEEVSRE ELKQAEEQVE
  2341  AARKDLDQAK EEVFRLPQEE EEGPGAGDES SCGTGGGTHR RSKKAKAPER PGTRVSERLR
  2401  GARAETQGAN HTPVISAHQT RSTTTPPRCS PARERVPRPA PRPRPTPASA PAAIPALVPV
  2461  PVSAPVPISA PNPITILPVH ILPSPPPPSQ IPPCSSPACT PPPACTPPPA HTPPPAQTCL
  2521  VTPSSPLLLG PPSVPISASV TNLPLGLRPE AELCAQALAS PESLELASVA SSETSSLSLV
  2581  PPKDLLPVAV EILPVSEKNL SLTPSAPSLT LEAGSIPNGQ EQEAPDSAEG TTLTVLPEGE
  2641  ELPLCVSESN GLELPPSAAS DEPLQEPLEA DRTSEELTEA KTPTSSPEKP QELVTAEVAA
  2701  PSTSSSATSS PEGPSPARPP RRRTSADVEI RGQGTGRPGQ PPGPKVLRKL PGRLVTVVEE
  2761  KELVRRRRQQ RGAASTLVPG VSETSASPGS PSVRSMSGPE SSPPIGGPCE AAPSSSLPTP
  2821  PQQPFIARRH IELGVTGGGS PENGDGALLA ITPPAVKRRR GRPPKKNRSP ADAGRGVDEA
  2881  PSSTLKGKTN GADPVPGPET LIVADPVLEP QLIPGPQPLG PQPVHRPNPL LSPVEKRRRG
  2941  RPPKARDLPI PGTISSAGDG NSESRTQPPP HPSPLTPLPP LLVCPTATVA NTVTTVTIST
  3001  SPPKRKRGRP PKNPPSPRPS QLPVLDRDST SVLESCGLGR RRQPQGQGES EGSSSDEDGS
  3061  RPLTRLARLR LEAEGMRGRK SGGSMVVAVI QDDLDLADSG PGGLELTPPV VSLTPKLRST
  3121  RLRPGSLVPP LETEKLPRKR AGAPVGGSPG LAKRGRLQPP SPLGPEGSVE ESEAEASGEE
  3181  EEGDGTPRRR PGPRRLVGTT NQGDQRILRS SAPPSLAGPA VSHRGRKAKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SRCAP 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

18 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SRCAP.

Disease | AllUniProt

Conditions SRCAP is implicated in, by any mechanism.

• Floating-Harbor syndrome (FLHS) MIM:136140
• Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (DEHMBA) MIM:619595

Disease | GeneticClinVar

115 pathogenic / likely-pathogenic of 2,450 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Floating-Harbor syndrome
• Neurodevelopmental disorder
• Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
• Inborn genetic diseases
• SRCAP-related disorder

Disease | ImmuneIEDB

Conditions an epitope on SRCAP was assayed in.

• hepatocellular carcinoma T cell

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)

0.1

gnomAD pLI

1

gnomAD missense Z

2.13

DepMap mean gene effect

-1.15

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cAMP/PKA signal transduction
• chromatin remodeling
• positive regulation of transcription by RNA polymerase II
• regulation of DNA-templated transcription

Molecular functions

• ATP binding
• ATP hydrolysis activity
• ATP-dependent chromatin remodeler activity
• DNA binding
• helicase activity
• histone binding
• transcription coactivator activity
• catalytic activity, acting on a protein

Cellular components

• Golgi apparatus
• nuclear body
• nucleoplasm
• nucleosome
• nucleus
• perinuclear region of cytoplasm
• protein-containing complex
• Swr1 complex

Protein domainsUniProt · Pfam · InterPro

• SNF2, N-terminal domain
• Helicase, C-terminal domain-like
• Helicase superfamily 1/2, ATP-binding domain
• Helicase/SANT-associated domain
• AT hook, DNA-binding motif
• P-loop containing nucleoside triphosphate hydrolase
• SNF2-like, N-terminal domain superfamily
• SNF2/RAD5-like, C-terminal helicase domain
• INO80/SWR1 chromatin remodeling helicase
• SNF2-related domain
• Helicase conserved C-terminal domain
• HSA domain

KeywordsUniProt

• Activator
• ATP-binding
• Chromatin regulator
• DNA-binding
• Host-virus interaction
• Hydrolase
• Intellectual disability
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

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

• CREBBP
• EP300
• RUVBL1
• RUVBL2