SKIC8 SKI8 subunit of superkiller complex [Homo sapiens (human)] - Gene

Summary

Official Symbol: SKIC8provided by HGNC
Official Full Name: SKI8 subunit of superkiller complexprovided by HGNC
Primary source: HGNC:HGNC:30300
See related: Ensembl:ENSG00000140395 MIM:609540; AllianceGenome:HGNC:30300
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: SKI8; REC14; WDR61
Summary: WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in thyroid (RPKM 14.1), testis (RPKM 13.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q25.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (78283235..78299609, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (76145807..76162185, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (78575577..78591951, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
integrase	gag-pol	HIV-1 IN is identified to have a physical interaction with WD repeat domain 61 (WDR61) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH26799 (e-PCR)
- UniSTS:86425

RH44802 (e-PCR)
- UniSTS:68601

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of myeloid cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay	IDA Inferred from Direct Assay more info	PubMed
involved_in rescue of stalled ribosome	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription elongation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cdc73/Paf1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cdc73/Paf1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of Ski complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: superkiller complex protein 8

Names: SKI complex component SKI8; SKI8 homolog; SKI8 subunit of superkiller complex protein; Ski complex subunit Rec14; WD repeat domain 61; WD repeat-containing protein 61; meiotic recombination REC14 protein homolog; recombination protein REC14

NCBI Reference Sequences (RefSeq)

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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)

NM_001303247.2 → NP_001290176.1 superkiller complex protein 8 isoform a

See identical proteins and their annotated locations for NP_001290176.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.

Source sequence(s)

AK024754, BI916225, DB451240

Consensus CDS

CCDS10300.1

UniProtKB/Swiss-Prot

D3DW84, Q6IA22, Q7Z4X4, Q9GZS3

Related

ENSP00000453902.1, ENST00000560569.5

Conserved Domains (2) summary

cd00200
Location:13 → 302

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:110 → 146

7WD40; WD40 repeat [structural motif]
NM_001303248.2 → NP_001290177.1 superkiller complex protein 8 isoform b

See identical proteins and their annotated locations for NP_001290177.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame pair of exons in the middle of the transcript compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AK024754, BI916225, BU528743

Consensus CDS

CCDS76785.1

UniProtKB/TrEMBL

H0YL19

Related

ENSP00000453024.1, ENST00000558459.5

Conserved Domains (2) summary

cd00200
Location:17 → 209

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:17 → 53

7WD40; WD40 repeat [structural motif]
NM_025234.3 → NP_079510.1 superkiller complex protein 8 isoform a

See identical proteins and their annotated locations for NP_079510.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AK024754, BI916225

Consensus CDS

CCDS10300.1

UniProtKB/Swiss-Prot

D3DW84, Q6IA22, Q7Z4X4, Q9GZS3

Related

ENSP00000267973.2, ENST00000267973.7

Conserved Domains (2) summary

cd00200
Location:13 → 302

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:110 → 146

7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

78283235..78299609 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011522094.3 → XP_011520396.1 superkiller complex protein 8 isoform X1

See identical proteins and their annotated locations for XP_011520396.1

UniProtKB/Swiss-Prot

D3DW84, Q6IA22, Q7Z4X4, Q9GZS3

Related

ENSP00000453801.1, ENST00000558311.5

Conserved Domains (2) summary

cd00200
Location:13 → 302

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:110 → 146

7WD40; WD40 repeat [structural motif]
XM_017022637.3 → XP_016878126.1 superkiller complex protein 8 isoform X2

Conserved Domains (2) summary

cd00200
Location:6 → 249

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:19 → 62

7WD40; WD40 repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

76145807..76162185 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054378926.1 → XP_054234901.1 superkiller complex protein 8 isoform X1

UniProtKB/Swiss-Prot

D3DW84, Q6IA22, Q7Z4X4, Q9GZS3
XM_054378927.1 → XP_054234902.1 superkiller complex protein 8 isoform X2