WDR47 WD repeat domain 47 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR47provided by HGNC
Official Full Name: WD repeat domain 47provided by HGNC
Primary source: HGNC:HGNC:29141
See related: Ensembl:ENSG00000085433 MIM:615734; AllianceGenome:HGNC:29141
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
Summary: Predicted to act upstream of or within several processes, including detection of hot stimulus involved in thermoception; neuronal stem cell population maintenance; and telencephalon development. Predicted to be located in several cellular components, including growth cone; microtubule; and neuronal cell body. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in brain (RPKM 29.8), testis (RPKM 15.2) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (108970214..109042102, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (109003568..109075520, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (109512836..109584724, complement)

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?

RUSC2 and WDR47 oppositely regulate kinesin-1-dependent distribution of ATG9A to the cell periphery.
Title: RUSC2 and WDR47 oppositely regulate kinesin-1-dependent distribution of ATG9A to the cell periphery.

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 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

R58914 (e-PCR)
- UniSTS:557

RH122300 (e-PCR)
- UniSTS:137827

D1S3421 (e-PCR)
- UniSTS:2168

G19739 (e-PCR)
- UniSTS:17292

A001X08 (e-PCR)
- UniSTS:17293

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 adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in anterior commissure morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex radial glia-guided migration	IEA Inferred from Electronic Annotation more info
involved_in corpus callosum development	IEA Inferred from Electronic Annotation more info
involved_in detection of hot stimulus involved in thermoception	IEA Inferred from Electronic Annotation more info
involved_in microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in motor behavior	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of microtubule depolymerization	IEA Inferred from Electronic Annotation more info
involved_in neural precursor cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in neuronal stem cell population maintenance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: WD repeat-containing protein 47

Names: nemitin; neuronal enriched MAP-interacting 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.

mRNA and Protein(s)

NM_001142550.2 → NP_001136022.1 WD repeat-containing protein 47 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK225781, BM793705, DA221069

Consensus CDS

CCDS44186.1

UniProtKB/TrEMBL

B4DHA1

Related

ENSP00000383599.3, ENST00000400794.7

Conserved Domains (4) summary

smart00668
Location:45 → 102

CTLH; C-terminal to LisH motif

cd00200
Location:614 → 923

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:619 → 667

7WD40; WD40 repeat [structural motif]

pfam17814
Location:13 → 40

LisH_TPL; LisH-like dimerisation domain
NM_001142551.2 → NP_001136023.1 WD repeat-containing protein 47 isoform 3

See identical proteins and their annotated locations for NP_001136023.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses several alternate in-frame splice sites in the 5' coding region, compared to variant 1, resulting in a protein (isoform 3) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AB020700, AK225781, BC039254, BM793705, DA221069

Consensus CDS

CCDS44187.1

UniProtKB/Swiss-Prot

A8MX09, O94967, Q5TYV7, Q5TYV8, Q5TYV9, Q8IXT7, Q8IYU9

UniProtKB/TrEMBL

B4DHA1

Related

ENSP00000358979.3, ENST00000369962.8

Conserved Domains (5) summary

smart00667
Location:9 → 42

LisH; Lissencephaly type-1-like homology motif

smart00668
Location:45 → 102

CTLH; C-terminal to LisH motif

COG2319
Location:545 → 918

WD40; WD40 repeat [General function prediction only]

cd00200
Location:606 → 915

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:611 → 659

7WD40; WD40 repeat [structural motif]
NM_014969.6 → NP_055784.3 WD repeat-containing protein 47 isoform 2

See identical proteins and their annotated locations for NP_055784.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a protein (isoform 2) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK225781, AK289789, BM793705

Consensus CDS

CCDS30787.1

UniProtKB/TrEMBL

B4DHA1

Related

ENSP00000358982.4, ENST00000369965.8

Conserved Domains (5) summary

smart00667
Location:9 → 42

LisH; Lissencephaly type-1-like homology motif

smart00668
Location:45 → 102

CTLH; C-terminal to LisH motif

COG2319
Location:546 → 919

WD40; WD40 repeat [General function prediction only]

cd00200
Location:607 → 916

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:612 → 660

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

108970214..109042102 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011541028.4 → XP_011539330.1 WD repeat-containing protein 47 isoform X5

See identical proteins and their annotated locations for XP_011539330.1

UniProtKB/TrEMBL

B4DHA1

Conserved Domains (5) summary

smart00667
Location:9 → 42

LisH; Lissencephaly type-1-like homology motif

smart00668
Location:45 → 102

CTLH; C-terminal to LisH motif

COG2319
Location:545 → 920

WD40; WD40 repeat [General function prediction only]

cd00200
Location:606 → 917

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:611 → 659

7WD40; WD40 repeat [structural motif]
XM_006710460.5 → XP_006710523.1 WD repeat-containing protein 47 isoform X4

See identical proteins and their annotated locations for XP_006710523.1

UniProtKB/TrEMBL

B4DHA1

Conserved Domains (5) summary

smart00667
Location:9 → 42

LisH; Lissencephaly type-1-like homology motif

smart00668
Location:45 → 102

CTLH; C-terminal to LisH motif

COG2319
Location:546 → 921

WD40; WD40 repeat [General function prediction only]

cd00200
Location:607 → 918

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:612 → 660

7WD40; WD40 repeat [structural motif]
XM_017000696.3 → XP_016856185.1 WD repeat-containing protein 47 isoform X3

UniProtKB/TrEMBL

B4DHA1
XM_011541027.4 → XP_011539329.1 WD repeat-containing protein 47 isoform X2

UniProtKB/TrEMBL

B4DHA1

Conserved Domains (4) summary

smart00668
Location:45 → 102

CTLH; C-terminal to LisH motif

cd00200
Location:613 → 924

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:618 → 666

7WD40; WD40 repeat [structural motif]

pfam17814
Location:13 → 40

LisH_TPL; LisH-like dimerisation domain
XM_011541029.3 → XP_011539331.1 WD repeat-containing protein 47 isoform X1

UniProtKB/TrEMBL

B4DHA1

Conserved Domains (4) summary

smart00668
Location:45 → 102

CTLH; C-terminal to LisH motif

cd00200
Location:614 → 925

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:619 → 667

7WD40; WD40 repeat [structural motif]

pfam17814
Location:13 → 40

LisH_TPL; LisH-like dimerisation domain
XM_017000697.3 → XP_016856186.1 WD repeat-containing protein 47 isoform X7

UniProtKB/Swiss-Prot

A8MX09, O94967, Q5TYV7, Q5TYV8, Q5TYV9, Q8IXT7, Q8IYU9

UniProtKB/TrEMBL

B4DHA1

Conserved Domains (5) summary

smart00667
Location:9 → 42

LisH; Lissencephaly type-1-like homology motif

smart00668
Location:45 → 102

CTLH; C-terminal to LisH motif

COG2319
Location:545 → 918

WD40; WD40 repeat [General function prediction only]

cd00200
Location:606 → 915

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:611 → 659

7WD40; WD40 repeat [structural motif]
XM_047449522.1 → XP_047305478.1 WD repeat-containing protein 47 isoform X6
XM_011541030.2 → XP_011539332.1 WD repeat-containing protein 47 isoform X4

See identical proteins and their annotated locations for XP_011539332.1

UniProtKB/TrEMBL

B4DHA1

Conserved Domains (5) summary

smart00667
Location:9 → 42

LisH; Lissencephaly type-1-like homology motif

smart00668
Location:45 → 102

CTLH; C-terminal to LisH motif

COG2319
Location:546 → 921

WD40; WD40 repeat [General function prediction only]

cd00200
Location:607 → 918

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:612 → 660

7WD40; WD40 repeat [structural motif]
XM_047449501.1 → XP_047305457.1 WD repeat-containing protein 47 isoform X1
XM_047449499.1 → XP_047305455.1 WD repeat-containing protein 47 isoform X1
XM_024454177.2 → XP_024309945.1 WD repeat-containing protein 47 isoform X1

UniProtKB/TrEMBL

B4DHA1

Conserved Domains (4) summary

smart00668
Location:45 → 102

CTLH; C-terminal to LisH motif

cd00200
Location:614 → 925

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:619 → 667

7WD40; WD40 repeat [structural motif]

pfam17814
Location:13 → 40

LisH_TPL; LisH-like dimerisation domain
XM_011541031.2 → XP_011539333.1 WD repeat-containing protein 47 isoform X8

UniProtKB/TrEMBL

B4DHA1

Conserved Domains (2) summary

cd00200
Location:514 → 825

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:519 → 567

7WD40; WD40 repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

109003568..109075520 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335210.1 → XP_054191185.1 WD repeat-containing protein 47 isoform X7

UniProtKB/Swiss-Prot

A8MX09, O94967, Q5TYV7, Q5TYV8, Q5TYV9, Q8IXT7, Q8IYU9
XM_054335208.1 → XP_054191183.1 WD repeat-containing protein 47 isoform X5
XM_054335206.1 → XP_054191181.1 WD repeat-containing protein 47 isoform X4
XM_054335205.1 → XP_054191180.1 WD repeat-containing protein 47 isoform X3
XM_054335204.1 → XP_054191179.1 WD repeat-containing protein 47 isoform X2
XM_054335202.1 → XP_054191177.1 WD repeat-containing protein 47 isoform X1
XM_054335209.1 → XP_054191184.1 WD repeat-containing protein 47 isoform X6
XM_054335207.1 → XP_054191182.1 WD repeat-containing protein 47 isoform X4
XM_054335203.1 → XP_054191178.1 WD repeat-containing protein 47 isoform X1
XM_054335211.1 → XP_054191186.1 WD repeat-containing protein 47 isoform X8