WDR91 WD repeat domain 91 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR91provided by HGNC
Official Full Name: WD repeat domain 91provided by HGNC
Primary source: HGNC:HGNC:24997
See related: Ensembl:ENSG00000105875 MIM:616303; AllianceGenome:HGNC:24997
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: SORF1; SORF-1; HSPC049
Summary: Enables phosphatidylinositol 3-kinase regulator activity. Involved in early endosome to late endosome transport; regulation of cellular protein catabolic process; and regulation of phosphatidylinositol 3-kinase activity. Located in cytosol; early endosome membrane; and late endosome membrane. Is extrinsic component of endosome membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney (RPKM 8.1), placenta (RPKM 7.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q33

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (135183839..135211526, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (136491701..136519383, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (134868591..134896278, complement)

Chromosome 7 - NC_000007.14 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?

suggest a role for the WDR81-WDR91 complex in the fusion of endolysosomal compartments and the absence of WDR81 leads to impaired receptor trafficking and degradation
Title: A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin.
WDR91 serves as a Rab7 effector that is essential for neuronal development by facilitating endosome conversion in the endosome-lysosome pathway.
Title: WDR91 is a Rab7 effector required for neuronal development.

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of WD repeat domain 91 (WDR91; HSPC049) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	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

MARC_13897-13898:1007564522:1 (e-PCR)
- UniSTS:267599

WI-12424 (e-PCR)
- UniSTS:1177

RH12504 (e-PCR)
- UniSTS:74464

RH45889 (e-PCR)
- UniSTS:50914

GDB:1317916 (e-PCR)
- UniSTS:2556

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol 3-kinase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylinositol 3-kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in early endosome to late endosome transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in early endosome to late endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in early endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in late endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: WD repeat-containing protein 91

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_001362736.2 → NP_001349665.1 WD repeat-containing protein 91 isoform 2

Status: VALIDATED

Source sequence(s)

AC009542, AC083862, BC017246

UniProtKB/TrEMBL

C9J1X0

Conserved Domains (3) summary

sd00039
Location:505 → 576

7WD40; WD40 repeat [structural motif]

pfam12881
Location:253 → 343

NUT; NUT protein

cl25539
Location:407 → 758

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_001362737.2 → NP_001349666.1 WD repeat-containing protein 91 isoform 1

Status: VALIDATED

Source sequence(s)

AC009542, AC083862, BC017246, BG767291

UniProtKB/TrEMBL

C9J1X0

Conserved Domains (3) summary

sd00039
Location:454 → 510

7WD40; WD40 repeat [structural motif]

pfam12881
Location:253 → 343

NUT; NUT protein

cl25539
Location:407 → 765

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_001362738.2 → NP_001349667.1 WD repeat-containing protein 91 isoform 4

Status: VALIDATED

Source sequence(s)

AC009542, AC083862, BC017246, DA634150

Conserved Domains (3) summary

sd00039
Location:243 → 314

7WD40; WD40 repeat [structural motif]

pfam12881
Location:9 → 100

NUT; NUT protein

cl25539
Location:164 → 496

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_014149.4 → NP_054868.3 WD repeat-containing protein 91 isoform 3

See identical proteins and their annotated locations for NP_054868.3

Status: VALIDATED

Source sequence(s)

AC009542, AC083862, BC017246

Consensus CDS

CCDS34758.1

UniProtKB/Swiss-Prot

A4D1P6, A6NK54, C9JMI4, Q6FI65, Q6MZQ1, Q6P4I1, Q96AE5, Q96G63, Q9H062, Q9H9B6, Q9NVG7, Q9NZY6

UniProtKB/TrEMBL

C9J1X0

Related

ENSP00000346466.4, ENST00000354475.5

Conserved Domains (3) summary

sd00039
Location:486 → 557

7WD40; WD40 repeat [structural motif]

pfam12881
Location:253 → 343

NUT; NUT protein

cl25539
Location:407 → 739

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 ...