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SCAF11 SR-related CTD associated factor 11 [ Homo sapiens (human) ]

Gene ID: 9169, updated on 5-Aug-2018

Summary

Official Symbol
SCAF11provided by HGNC
Official Full Name
SR-related CTD associated factor 11provided by HGNC
Primary source
HGNC:HGNC:10784
See related
Ensembl:ENSG00000139218 MIM:603668; Vega:OTTHUMG00000149930
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SIP1; CASP11; SFRS2IP; SRRP129; SRSF2IP
Expression
Ubiquitous expression in lymph node (RPKM 15.2), appendix (RPKM 14.4) and 25 other tissues See more
Orthologs

Genomic context

See SCAF11 in Genome Data Viewer
Location:
12q12
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (45919131..45992040, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (46312914..46385898, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene AT-rich interaction domain 2 Neighboring gene RNA, 7SL, cytoplasmic 246, pseudogene Neighboring gene lysine rich nucleolar protein 1 pseudogene 2 Neighboring gene ribosomal protein L13a pseudogene 21 Neighboring gene solute carrier family 38 member 1 Neighboring gene uncharacterized LOC105378248

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?

Phenotypes

NHGRI GWAS Catalog

Description
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
RNA splicing, via transesterification reactions IDA
Inferred from Direct Assay
more info
PubMed 
mRNA processing TAS
Traceable Author Statement
more info
PubMed 
spliceosomal complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein SCAF11
Names
CTD-associated SR protein 11
SC35-interacting protein 1
SFRS2-interacting protein
SR-related and CTD-associated factor 11
SRSF2-interacting protein
renal carcinoma antigen NY-REN-40
serine/arginine-rich splicing factor 2-interacting protein
splicing factor, arginine/serine-rich 2-interacting protein
splicing regulatory protein 129

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.

mRNA and Protein(s)

  1. NM_004719.2NP_004710.2  protein SCAF11

    See identical proteins and their annotated locations for NP_004710.2

    Status: VALIDATED

    Source sequence(s)
    AC000015, AC084878, AF030234
    Consensus CDS
    CCDS8748.2
    UniProtKB/Swiss-Prot
    Q99590
    Related
    ENSP00000358374.3, OTTHUMP00000195169, ENST00000369367.7, OTTHUMT00000313992
    Conserved Domains (2) summary
    pfam13639
    Location:3982
    zf-RING_2; Ring finger domain
    cl21589
    Location:728920
    Relaxase; Relaxase/Mobilization nuclease 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_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    45919131..45992040 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269230.2XP_005269287.2  protein SCAF11 isoform X2

    See identical proteins and their annotated locations for XP_005269287.2

    UniProtKB/Swiss-Prot
    Q99590
    Conserved Domains (2) summary
    pfam13639
    Location:3982
    zf-RING_2; Ring finger domain
    cl21589
    Location:728920
    Relaxase; Relaxase/Mobilization nuclease domain
  2. XM_017020220.1XP_016875709.1  protein SCAF11 isoform X5

  3. XM_017020218.1XP_016875707.1  protein SCAF11 isoform X3

  4. XM_017020217.1XP_016875706.1  protein SCAF11 isoform X1

  5. XM_011538985.1XP_011537287.1  protein SCAF11 isoform X2

    See identical proteins and their annotated locations for XP_011537287.1

    UniProtKB/Swiss-Prot
    Q99590
    Conserved Domains (2) summary
    pfam13639
    Location:3982
    zf-RING_2; Ring finger domain
    cl21589
    Location:728920
    Relaxase; Relaxase/Mobilization nuclease domain
  6. XM_017020219.1XP_016875708.1  protein SCAF11 isoform X1

  7. XM_024449274.1XP_024305042.1  protein SCAF11 isoform X6

    Conserved Domains (2) summary
    pfam09606
    Location:11501290
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cl28310
    Location:713964
    Rho; Transcription termination factor Rho [Transcription]
  8. XM_011538984.2XP_011537286.1  protein SCAF11 isoform X4

    Conserved Domains (3) summary
    PHA02929
    Location:1106
    PHA02929; N1R/p28-like protein; Provisional
    pfam13639
    Location:5598
    zf-RING_2; Ring finger domain
    cl21589
    Location:744936
    Relaxase; Relaxase/Mobilization nuclease domain
  9. XM_024449275.1XP_024305043.1  protein SCAF11 isoform X7

    Conserved Domains (2) summary
    pfam09606
    Location:11431283
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cl28310
    Location:706957
    Rho; Transcription termination factor Rho [Transcription]
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