SNAPC4
snRNA-activating protein complex subunit 4
Also known as: FLJ13451, PTFalpha, SNAP190, SNPC4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5SXM2
- Gene
- SNAPC4
- Ensembl
- ENSG00000165684
- Chromosome
- 9
- Canonical length
- 1469 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear membrane
OverviewNCBI Gene
This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]
Canonical amino-acid sequenceUniProt
1469 residues, UniProt reviewed canonical sequence.
>Q5SXM2|SNAPC4
1 MDVDAEREKI TQEIKELERI LDPGSSGSHV EISESSLESD SEADSLPSED LDPADPPISE
61 EERWGEASND EDDPKDKTLP EDPETCLQLN MVYQEVIQEK LAEANLLLAQ NREQQEELMR
121 DLAGSKGTKV KDGKSLPPST YMGHFMKPYF KDKVTGVGPP ANEDTREKAA QGIKAFEELL
181 VTKWKNWEKA LLRKSVVSDR LQRLLQPKLL KLEYLHQKQS KVSSELERQA LEKQGREAEK
241 EIQDINQLPE EALLGNRLDS HDWEKISNIN FEGSRSAEEI RKFWQNSEHP SINKQEWSRE
301 EEERLQAIAA AHGHLEWQKI AEELGTSRSA FQCLQKFQQH NKALKRKEWT EEEDRMLTQL
361 VQEMRVGSHI PYRRIVYYME GRDSMQLIYR WTKSLDPGLK KGYWAPEEDA KLLQAVAKYG
421 EQDWFKIREE VPGRSDAQCR DRYLRRLHFS LKKGRWNLKE EEQLIELIEK YGVGHWAKIA
481 SELPHRSGSQ CLSKWKIMMG KKQGLRRRRR RARHSVRWSS TSSSGSSSGS SGGSSSSSSS
541 SSEEDEPEQA QAGEGDRALL SPQYMVPDMD LWVPARQSTS QPWRGGAGAW LGGPAASLSP
601 PKGSSASQGG SKEASTTAAA PGEETSPVQV PARAHGPVPR SAQASHSADT RPAGAEKQAL
661 EGGRRLLTVP VETVLRVLRA NTAARSCTQK EQLRQPPLPT SSPGVSSGDS VARSHVQWLR
721 HRATQSGQRR WRHALHRRLL NRRLLLAVTP WVGDVVVPCT QASQRPAVVQ TQADGLREQL
781 QQARLASTPV FTLFTQLFHI DTAGCLEVVR ERKALPPRLP QAGARDPPVH LLQASSSAQS
841 TPGHLFPNVP AQEASKSASH KGSRRLASSR VERTLPQASL LASTGPRPKP KTVSELLQEK
901 RLQEARAREA TRGPVVLPSQ LLVSSSVILQ PPLPHTPHGR PAPGPTVLNV PLSGPGAPAA
961 AKPGTSGSWQ EAGTSAKDKR LSTMQALPLA PVFSEAEGTA PAASQAPALG PGQISVSCPE
1021 SGLGQSQAPA ASRKQGLPEA PPFLPAAPSP TPLPVQPLSL THIGGPHVAT SVPLPVTWVL
1081 TAQGLLPVPV PAVVSLPRPA GTPGPAGLLA TLLPPLTETR AAQGPRAPAL SSSWQPPANM
1141 NREPEPSCRT DTPAPPTHAL SQSPAEADGS VAFVPGEAQV AREIPEPRTS SHADPPEAEP
1201 PWSGRLPAFG GVIPATEPRG TPGSPSGTQE PRGPLGLEKL PLRQPGPEKG ALDLEKPPLP
1261 QPGPEKGALD LGLLSQEGEA ATQQWLGGQR GVRVPLLGSR LPYQPPALCS LRALSGLLLH
1321 KKALEHKATS LVVGGEAERP AGALQASLGL VRGQLQDNPA YLLLRARFLA AFTLPALLAT
1381 LAPQGVRTTL SVPSRVGSES EDEDLLSELE LADRDGQPGC TTATCPIQGA PDSGKCSASS
1441 CLDTSNDPDD LDVLRTRHAR HTRKRRRLVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNAPC4 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)
- 0.58
- Highest tissue expression
- 5.5 nTPM
Expression across tissuesHPA
Tissue
- testis: 5.5 nTPM
- bone marrow: 5.1 nTPM
- pancreas: 4.8 nTPM
- cerebellum: 4.6 nTPM
- salivary gland: 4.5 nTPM
- skin: 4.2 nTPM
Single-cell type
- respiratory ciliated cells: 40 nCPM
- endometrial ciliated cells: 34 nCPM
- fallopian tube ciliated cells: 30 nCPM
- ependymal cells: 28 nCPM
- lactotrophs: 23 nCPM
- thyrotrophs: 22 nCPM
Immune cell
- NK-cell: 0.2 nTPM
- gdT-cell: 0.1 nTPM
- memory B-cell: 0.1 nTPM
- memory CD4 T-cell: 0.1 nTPM
- non-classical monocyte: 0.1 nTPM
- plasmacytoid DC: 0.1 nTPM
Brain region
- cerebral cortex: 17 nTPM
- amygdala: 14 nTPM
- basal ganglia: 14 nTPM
- hippocampal formation: 13 nTPM
- cerebellum: 10 nTPM
- hypothalamus: 9.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SNAPC4.
Disease | AllUniProt
Conditions SNAPC4 is implicated in, by any mechanism.
- Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction (NEDRSO) MIM:620515
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 420 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
- SNAPC4 related condition
- Sarcoma
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)
- 0.98
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.08
- DepMap mean gene effect
- -1.18
- DepMap dependency class
- common
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
Molecular functions
- DNA binding
- RNA polymerase II general transcription initiation factor activity
- RNA polymerase III general transcription initiation factor activity
- RNA polymerase III type 3 promoter sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SNAPC4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SNAPC4 as an antibody target. Whether an autoantibody or antibody against SNAPC4 could matter depends on whether native SNAPC4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNAPC4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SNAPC4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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