SCAF4

Protein identityUniProt · HPA

UniProt accession

O95104

Gene

SCAF4

Ensembl

ENSG00000156304

Chromosome

21

Canonical length

1147 aa

Protein class

Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

Canonical amino-acid sequenceUniProt

1147 residues, UniProt reviewed canonical sequence.

>O95104|SCAF4
     1  MDAVNAFNQE LFSLMDMKPP ISRAKMILIT KAAIKAIKLY KHVVQIVEKF IKKCKPEYKV
    61  PGLYVIDSIV RQSRHQFGTD KDVFGPRFSK NITATFQYLY LCPSEDKSKI VRVLNLWQKN
   121  GVFKIEIIQP LLDMAAGTSN AAPVAENVTN NEGSPPPPVK VSSEPPTQAT PNSVPAVPQL
   181  PSSDAFAAVA QLFQTTQGQQ LQQILQTFQQ PPKPQSPALD NAVMAQVQAI TAQLKTTPTQ
   241  PSEQKAAFPP PEQKTAFDKK LLDRFDYDDE PEAVEESKKE DTTAVTTTAP AAAVPPAPTA
   301  TVPAAAAPAA ASPPPPQAPF GFPGDGMQQP AYTQHQNMDQ FQPRMMGIQQ DPMHHQVPLP
   361  PNGQMPGFGL LPTPPFPPMA QPVIPPTPPV QQPFQASFQA QNEPLTQKPH QQEMEVEQPC
   421  IQEVKRHMSD NRKSRSRSAS RSPKRRRSRS GSRSRRSRHR RSRSRSRDRR RHSPRSRSQE
   481  RRDREKERER RQKGLPQVKP ETASVCSTTL WVGQLDKRTT QQDVASLLEE FGPIESINMI
   541  PPRGCAYIVM VHRQDAYRAL QKLSRGNYKV NQKSIKIAWA LNKGIKADYK QYWDVELGVT
   601  YIPWDKVKPE ELESFCEGGM LDSDTLNPDW KGIPKKPENE VAQNGGAETS HTEPVSPIPK
   661  PLPVPVPPIP VPAPITVPPP QVPPHQPGPP VVGALQPPAF TPPLGIPPPG FGPGVPPPPP
   721  PPPFLRPGFN PMHLPPGFLP PGPPPPITPP VSIPPPHTPP ISIPNSTIAG INEDTTKDLS
   781  IGNPIPTVVS GARGNAESGD SVKMYGSAVP PAAPTNLPTP PVTQPVSLLG TQGVAPGPVI
   841  GLQAPSTGLL GARPGLIPLQ RPPGMPPPHL QRFPLMPPRP MPPHMMHRGP PPGPGGFAMP
   901  PPHGMKGPFP PHGPFVRPGG MPGLGGPGPG PGGPEDRDGR QQPPQQPQQQ PQPQAPQQPQ
   961  QQQQQQPPPS QQPPPTQQQP QQFRNDNRQQ FNSGRDQERF GRRSFGNRVE NDRERYGNRN
  1021  DDRDNSNRDR REWGRRSPDR DRHRDLEERN RRSSGHRDRE RDSRDRESRR EKEEARGKEK
  1081  PEVTDRAGGN KTVEPPISQV GNVDTASELE KGVSEAAVLK PSEELPAEAT SSVEPEKDSG
  1141  SAAEAPR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SCAF4 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)

0.6

Highest tissue expression

18 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SCAF4.

Disease | AllUniProt

Conditions SCAF4 is implicated in, by any mechanism.

• Fliedner-Zweier syndrome (FZS) MIM:620511

Disease | GeneticClinVar

42 pathogenic / likely-pathogenic of 357 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Fliedner-Zweier syndrome
• Inborn genetic diseases
• SCAF4-related disorder
• Intellectual disability
• SCAF4-associated mental retardation

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)

0.11

gnomAD pLI

1

gnomAD missense Z

1.94

DepMap mean gene effect

-0.18

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• poly(A)-coupled
• negative regulation of termination of RNA polymerase II transcription

Molecular functions

• RNA binding
• RNA polymerase II C-terminal domain phosphoserine binding

Cellular components

• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• CID domain
• ENTH/VHS
• Nucleotide-binding alpha-beta plait domain superfamily
• RNA-binding domain superfamily
• SR-related and CTD-associated factor
• RNA recognition motif
• CID domain
• SCAF4, RNA recognition motif

KeywordsUniProt

• Acetylation
• Epilepsy
• Intellectual disability
• Nucleus
• Phosphoprotein
• RNA-binding
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of SCAF4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• POLR2A
• SUPT5H