DCAF6 DDB1 and CUL4 associated factor 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCAF6provided by HGNC
Official Full Name: DDB1 and CUL4 associated factor 6provided by HGNC
Primary source: HGNC:HGNC:30002
See related: Ensembl:ENSG00000143164 MIM:610494; AllianceGenome:HGNC:30002
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NRIP; ARCAP; IQWD1; PC326; MSTP055; 1200006M05Rik
Summary: The protein encoded by this gene is a ligand-dependent coactivator of nuclear receptors, including nuclear receptor subfamily 3 group C member 1 (NR3C1), glucocorticoid receptor (GR), and androgen receptor (AR). The encoded protein and DNA damage binding protein 2 (DDB2) may act as tumor promoters and tumor suppressors, respectively, by regulating the level of androgen receptor in prostate tissues. In addition, this protein can act with glucocorticoid receptor to promote human papillomavirus gene expression. [provided by RefSeq, Mar 2017]
Expression: Broad expression in testis (RPKM 48.7), heart (RPKM 45.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (167863576..168075836)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (167215301..167427301)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (167905477..168045074)

Chromosome 1 - NC_000001.11 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?

Identification of circular RNA-Dcaf6 as a therapeutic target for optic nerve crush-induced RGC degeneration.
Title: Identification of circular RNA-Dcaf6 as a therapeutic target for optic nerve crush-induced RGC degeneration.
The CRL4[DCAF6] E3 ligase ubiquitinates CtBP1/2 to induce apoptotic signalling and promote intervertebral disc degeneration.
Title: The CRL4(DCAF6) E3 ligase ubiquitinates CtBP1/2 to induce apoptotic signalling and promote intervertebral disc degeneration.
Autoantibody of NRIP, a novel AChR-interacting protein, plays a detrimental role in myasthenia gravis.
Title: Autoantibody of NRIP, a novel AChR-interacting protein, plays a detrimental role in myasthenia gravis.
Circ_DCAF6 potentiates cell stemness and growth in breast cancer through GLI1-Hedgehog pathway.
Title: Circ_DCAF6 potentiates cell stemness and growth in breast cancer through GLI1-Hedgehog pathway.
Data show that circular RNA circ-DCAF6 (DDB1 and CUL4 associated factor 6) exerts oncogenic properties by downregulating miR-1231 and miR-1256.
Title: Enhanced expression of circular RNA circ-DCAF6 predicts adverse prognosis and promotes cell progression via sponging miR-1231 and miR-1256 in gastric cancer.
High IQWD1 expression is associated with breast cancer.
Title: Identification of androgen-responsive microRNAs and androgen-related genes in breast cancer.
NRIP enhances HPV 16 gene expression via interaction with either GR or viral E2.
Title: NRIP enhances HPV gene expression via interaction with either GR or E2.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
A survey results showed that ten cancer cases were revealed to express the NRIP in six malignancies, but not all of these specific tumor types consistently showed positive NRIP expression.
Title: Nuclear Receptor Interaction Protein (NRIP) expression assay using human tissue microarray and immunohistochemistry technology confirming nuclear localization.
NRIP plays a feed-forward role enhancing androgen receptor (AR)-driven NRIP promoter activity via NRIP forming a complex with AR to protect AR protein from proteasome degradation.
Title: Nuclear receptor interaction protein, a coactivator of androgen receptors (AR), is regulated by AR and Sp1 to feed forward and activate its own gene expression through AR protein stability.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

EBI GWAS Catalog

Description
Common variants on 8p12 and 1q24.2 confer risk of schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2526 (e-PCR)
- UniSTS:92704

D1S445 (e-PCR), detects polymorphism
- UniSTS:78640

RH45968 (e-PCR)
- UniSTS:81976

AL034023 (e-PCR)
- UniSTS:93570

D1S445 (e-PCR), detects polymorphism
- UniSTS:77488

D16S2649 (e-PCR)
- UniSTS:152256

G65700 (e-PCR)
- UniSTS:225494

RH64705 (e-PCR)
- UniSTS:37862

SHGC-150578 (e-PCR)
- UniSTS:173289

RH45687 (e-PCR)
- UniSTS:31467

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear receptor coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear receptor coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Cul4-RING E3 ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul4-RING E3 ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in focal adhesion	IDA Inferred from Direct Assay more info
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: DDB1- and CUL4-associated factor 6

Names: IQ motif and WD repeat-containing protein 1; IQ motif and WD repeats 1; androgen receptor complex-associated protein; nuclear receptor interaction protein

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.

Genomic

NG_053062.2 RefSeqGene

Range

78109..217262

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001017977.3 → NP_001017977.1 DDB1- and CUL4-associated factor 6 isoform b

See identical proteins and their annotated locations for NP_001017977.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two consecutive exons and a downstream single exon in the CDS compared to variant 3. The reading frame is not changed and the resulting isoform (b) lacks two internal segments compared to isoform c.

Source sequence(s)

AY766164, CA310484, DA128283

Consensus CDS

CCDS30933.1

UniProtKB/Swiss-Prot

A2A295, B4DNB8, Q58WW2, Q7L8I0, Q8IXH3, Q8TB19

Related

ENSP00000311949.6, ENST00000312263.10

Conserved Domains (3) summary

COG2319
Location:42 → 281

WD40; WD40 repeat [General function prediction only]

sd00039
Location:55 → 92

7WD40; WD40 repeat [structural motif]

cl02567
Location:43 → 292

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 ...
NM_001198956.2 → NP_001185885.1 DDB1- and CUL4-associated factor 6 isoform c

See identical proteins and their annotated locations for NP_001185885.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) is the longest transcript and encodes the longest isoform (c).

Source sequence(s)

AF116725, CA310484, DA128283

Consensus CDS

CCDS55657.1

UniProtKB/Swiss-Prot

Q58WW2

Related

ENSP00000356814.3, ENST00000367840.4

Conserved Domains (3) summary

COG2319
Location:42 → 281

WD40; WD40 repeat [General function prediction only]

sd00039
Location:55 → 92

7WD40; WD40 repeat [structural motif]

cl02567
Location:43 → 292

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 ...
NM_001198957.2 → NP_001185886.1 DDB1- and CUL4-associated factor 6 isoform d

See identical proteins and their annotated locations for NP_001185886.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an in-frame exon in the CDS compared to variant 3. The resulting isoform (d) lacks an internal segment compared to isoform c.

Source sequence(s)

AF116725, AK297847, CA310484, DA128283

Consensus CDS

CCDS55658.1

UniProtKB/Swiss-Prot

Q58WW2

Related

ENSP00000396238.2, ENST00000432587.6

Conserved Domains (3) summary

COG2319
Location:48 → 250

WD40; WD40 repeat [General function prediction only]

sd00039
Location:66 → 107

7WD40; WD40 repeat [structural motif]

cl02567
Location:48 → 261

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 ...
NM_001349773.2 → NP_001336702.1 DDB1- and CUL4-associated factor 6 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) encodes isoform e.

Source sequence(s)

AL031287, AL033531, AL033532, KF455056, Z97876

Conserved Domains (3) summary

sd00039
Location:55 → 92

7WD40; WD40 repeat [structural motif]

cl25539
Location:43 → 292

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 ...

cl26247
Location:394 → 743

DNA_pol3_delta2; DNA polymerase III, delta subunit
NM_001349774.2 → NP_001336703.1 DDB1- and CUL4-associated factor 6 isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variants 7-9, encodes isoform f.

Source sequence(s)

AL031287, AL033531, AL033532, Z97876

Conserved Domains (3) summary

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl25539
Location:5 → 145

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 ...

cl26247
Location:142 → 539

DNA_pol3_delta2; DNA polymerase III, delta subunit
NM_001349775.2 → NP_001336704.1 DDB1- and CUL4-associated factor 6 isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variants 6, 8, and 9, encodes isoform f.

Source sequence(s)

AL031287, AL033531, AL033532, Z97876

Conserved Domains (3) summary

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl25539
Location:5 → 145

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 ...

cl26247
Location:142 → 539

DNA_pol3_delta2; DNA polymerase III, delta subunit
NM_001349776.2 → NP_001336705.1 DDB1- and CUL4-associated factor 6 isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variants 6, 7, and 9, encodes isoform f.

Source sequence(s)

AL031287, AL033531, AL033532, Z97876

Conserved Domains (3) summary

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl25539
Location:5 → 145

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 ...

cl26247
Location:142 → 539

DNA_pol3_delta2; DNA polymerase III, delta subunit
NM_001349777.2 → NP_001336706.1 DDB1- and CUL4-associated factor 6 isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (9), as well as variants 6-8, encodes isoform f.

Source sequence(s)

AL031287, AL033531, AL033532, KF455056, Z97876

Conserved Domains (3) summary

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl25539
Location:5 → 145

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 ...

cl26247
Location:142 → 539

DNA_pol3_delta2; DNA polymerase III, delta subunit
NM_001349778.2 → NP_001336707.1 DDB1- and CUL4-associated factor 6 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variants 11 and 12, encodes isoform g.

Source sequence(s)

AL031287, AL033531, AL033532, Z97876

Conserved Domains (3) summary

PRK14949
Location:142 → 519

PRK14949; DNA polymerase III subunits gamma and tau; Provisional

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl29593
Location:5 → 145

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 ...
NM_001349779.2 → NP_001336708.1 DDB1- and CUL4-associated factor 6 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (11), as well as variants 10 and 12, encodes isoform g.

Source sequence(s)

AL031287, AL033531, AL033532, Z97876

Conserved Domains (3) summary

PRK14949
Location:142 → 519

PRK14949; DNA polymerase III subunits gamma and tau; Provisional

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl29593
Location:5 → 145

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 ...
NM_001349780.2 → NP_001336709.1 DDB1- and CUL4-associated factor 6 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (12), as well as variants 10 and 11, encodes isoform g.

Source sequence(s)

AL031287, AL033531, AL033532, KF455056, Z97876

Conserved Domains (3) summary

PRK14949
Location:142 → 519

PRK14949; DNA polymerase III subunits gamma and tau; Provisional

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl29593
Location:5 → 145

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 ...
NM_001393650.1 → NP_001380579.1 DDB1- and CUL4-associated factor 6 isoform h

Status: REVIEWED

Source sequence(s)

AL031287, AL033531, AL033532, KF455056, Z97876

Conserved Domains (3) summary

PRK14949
Location:289 → 666

PRK14949; DNA polymerase III subunits gamma and tau; Provisional

sd00039
Location:55 → 92

7WD40; WD40 repeat [structural motif]

cl29593
Location:43 → 292

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 ...
NM_001393651.1 → NP_001380580.1 DDB1- and CUL4-associated factor 6 isoform i

Status: REVIEWED

Source sequence(s)

AL031287, AL033531, AL033532, KF455056, Z97876

Conserved Domains (3) summary

PRK14949
Location:289 → 686

PRK14949; DNA polymerase III subunits gamma and tau; Provisional

sd00039
Location:55 → 92

7WD40; WD40 repeat [structural motif]

cl29593
Location:43 → 292

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 ...
NM_018442.4 → NP_060912.2 DDB1- and CUL4-associated factor 6 isoform a

See identical proteins and their annotated locations for NP_060912.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks two in-frame exons in the CDS compared to variant 3. The resulting isoform (a) lacks two internal segments compared to isoform c.

Source sequence(s)

AF116725, AL136738, CA310484, DA128283

Consensus CDS

CCDS1267.2

UniProtKB/Swiss-Prot

Q58WW2

Related

ENSP00000356817.3, ENST00000367843.7

Conserved Domains (3) summary

COG2319
Location:42 → 281

WD40; WD40 repeat [General function prediction only]

sd00039
Location:55 → 92

7WD40; WD40 repeat [structural motif]

cl02567
Location:43 → 292

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 ...

RNA

NR_146228.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL031287, AL033531, AL033532, Z97876
NR_146229.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL031287, AL033531, AL033532, KF455056, Z97876
NR_146230.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL031287, AL033531, AL033532, KF455056, Z97876

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

167863576..168075836

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425194.1 → XP_047281150.1 DDB1- and CUL4-associated factor 6 isoform X1
XM_017001779.3 → XP_016857268.1 DDB1- and CUL4-associated factor 6 isoform X1

Conserved Domains (3) summary

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl25539
Location:5 → 145

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 ...

cl26247
Location:247 → 596

DNA_pol3_delta2; DNA polymerase III, delta subunit
XM_047425193.1 → XP_047281149.1 DDB1- and CUL4-associated factor 6 isoform X1
XM_024448371.2 → XP_024304139.1 DDB1- and CUL4-associated factor 6 isoform X1

Conserved Domains (3) summary

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl25539
Location:5 → 145

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 ...

cl26247
Location:247 → 596

DNA_pol3_delta2; DNA polymerase III, delta subunit
XM_047425198.1 → XP_047281154.1 DDB1- and CUL4-associated factor 6 isoform X2
XM_024448374.2 → XP_024304142.1 DDB1- and CUL4-associated factor 6 isoform X4

Conserved Domains (3) summary

PRK14949
Location:142 → 519

PRK14949; DNA polymerase III subunits gamma and tau; Provisional

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl29593
Location:5 → 145

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 ...
XM_024448373.2 → XP_024304141.1 DDB1- and CUL4-associated factor 6 isoform X3

Conserved Domains (3) summary

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl25539
Location:5 → 145

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 ...

cl26247
Location:142 → 519

DNA_pol3_delta2; DNA polymerase III, delta subunit
XM_024448375.2 → XP_024304143.1 DDB1- and CUL4-associated factor 6 isoform X4

Conserved Domains (3) summary

PRK14949
Location:142 → 519

PRK14949; DNA polymerase III subunits gamma and tau; Provisional

sd00039
Location:48 → 99

7WD40; WD40 repeat [structural motif]

cl29593
Location:5 → 145

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 ...