WDR38 WD repeat domain 38 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR38provided by HGNC
Official Full Name: WD repeat domain 38provided by HGNC
Primary source: HGNC:HGNC:23745
See related: Ensembl:ENSG00000136918 AllianceGenome:HGNC:23745
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 hematopoietic progenitor cell differentiation. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lung (RPKM 2.9), testis (RPKM 2.5) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (124853460..124857878)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (137051771..137056188)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (127615739..127620157)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis.
Title: WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis.

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)

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: WD repeat-containing protein 38

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_001045476.3 → NP_001038941.1 WD repeat-containing protein 38 isoform 2

See identical proteins and their annotated locations for NP_001038941.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal aa, compared to isoform 1.

Source sequence(s)

AA867995, AL354928, BC150645

Consensus CDS

CCDS43876.1

UniProtKB/Swiss-Prot

A0PK24, Q5JTN6

UniProtKB/TrEMBL

B9EK65

Related

ENSP00000362677.1, ENST00000373574.2

Conserved Domains (3) summary

COG2319
Location:11 → 298

WD40; WD40 repeat [General function prediction only]

cd00200
Location:20 → 300

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:26 → 61

7WD40; WD40 repeat [structural motif]
NM_001276374.2 → NP_001263303.1 WD repeat-containing protein 38 isoform 1

See identical proteins and their annotated locations for NP_001263303.1

Status: VALIDATED

Description

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

Source sequence(s)

AA867995, AL354928, BC171828, BC171830

Consensus CDS

CCDS75898.1

UniProtKB/TrEMBL

A0A087X0D8, B7ZW23

Related

ENSP00000483312.1, ENST00000613760.4

Conserved Domains (3) summary

COG2319
Location:11 → 299

WD40; WD40 repeat [General function prediction only]

cd00200
Location:20 → 301

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:26 → 61

7WD40; WD40 repeat [structural motif]
NM_001276375.2 → NP_001263304.1 WD repeat-containing protein 38 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AA867995, AL354928, BC171830

UniProtKB/TrEMBL

B7ZW24

Conserved Domains (2) summary

cd00200
Location:11 → 290

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:56 → 92

7WD40; WD40 repeat [structural motif]
NM_001276376.2 → NP_001263305.1 WD repeat-containing protein 38 isoform 4

See identical proteins and their annotated locations for NP_001263305.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) initiates translation at an alternate downstream start codon and has a distinct and shorter internal segment in the CDS, compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AA867995, AL354928, BC171837

Consensus CDS

CCDS75899.1

UniProtKB/TrEMBL

A0A087X0J1

Related

ENSP00000483432.1, ENST00000618744.4

Conserved Domains (2) summary

cd00200
Location:54 → 250

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:60 → 96

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_000009.12 Reference GRCh38.p14 Primary Assembly

Range

124853460..124857878

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005251987.5 → XP_005252044.1 WD repeat-containing protein 38 isoform X1

UniProtKB/TrEMBL

B7ZW23

Conserved Domains (3) summary

COG2319
Location:11 → 272

WD40; WD40 repeat [General function prediction only]

cd00200
Location:20 → 274

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:26 → 61

7WD40; WD40 repeat [structural motif]