NUP35 nucleoporin 35 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUP35provided by HGNC
Official Full Name: nucleoporin 35provided by HGNC
Primary source: HGNC:HGNC:29797
See related: Ensembl:ENSG00000163002 MIM:608140; AllianceGenome:HGNC:29797
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: MP44; NP44; MP-44; NUP53
Summary: This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]
Expression: Ubiquitous expression in testis (RPKM 6.9), adrenal (RPKM 3.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q32.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (183117514..183161680)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (183606527..183650714)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (183982242..184026408)

Chromosome 2 - NC_000002.12 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
defined regions of Nup53 that bind to neighboring nucleoporins as well as those domains that target Nup53 to the nuclear pore complex.
Title: Nup53 is required for nuclear envelope and nuclear pore complex assembly.

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

RH25234 (e-PCR)
- UniSTS:89351

D8S2279 (e-PCR)
- UniSTS:473907

STS-Z40051 (e-PCR)
- UniSTS:64111

D2S2502 (e-PCR)
- UniSTS:72340

D11S3752 (e-PCR)
- UniSTS:152982

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in NLS-bearing protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in nuclear pore organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	TAS Traceable Author Statement more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
part_of nuclear pore	NAS Non-traceable Author Statement more info	PubMed
part_of nuclear pore central transport channel	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear pore nuclear basket	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: nucleoporin NUP35

Names: mitotic phosphoprotein 44; nuclear pore complex protein Nup53; nucleoporin 35kDa; nucleoporin NUP53

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_001287584.2 → NP_001274513.1 nucleoporin NUP35 isoform b

See identical proteins and their annotated locations for NP_001274513.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AC064871, AK302350, BC035597

Consensus CDS

CCDS74614.1

UniProtKB/TrEMBL

A8K3Z5

Related

ENSP00000387305.1, ENST00000409798.5

Conserved Domains (1) summary

cd12722
Location:155 → 228

RRM_Nup53; RNA recognition motif in nucleoporin Nup53
NM_001287585.2 → NP_001274514.1 nucleoporin NUP35 isoform c

See identical proteins and their annotated locations for NP_001274514.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AK298199, BC061698, BI818393, CX787176, FN117342

UniProtKB/Swiss-Prot

Q8NFH5

Conserved Domains (1) summary

cd12722
Location:54 → 127

RRM_Nup53; RNA recognition motif (RRM) found in nucleoporin Nup53
NM_138285.5 → NP_612142.2 nucleoporin NUP35 isoform a

See identical proteins and their annotated locations for NP_612142.2

Status: REVIEWED

Description

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

Source sequence(s)

BC061698, FN117342

Consensus CDS

CCDS2290.1

UniProtKB/Swiss-Prot

B4DP57, B4DYB4, Q4ZFZ9, Q53S95, Q8NFH5, Q8TDJ1

UniProtKB/TrEMBL

A8K3Z5

Related

ENSP00000295119.4, ENST00000295119.9

Conserved Domains (1) summary

cd12722
Location:172 → 245

RRM_Nup53; RNA recognition motif (RRM) found in nucleoporin Nup53

RNA

NR_109856.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK289601, BC035597

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

183117514..183161680

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011510577.3 → XP_011508879.1 nucleoporin NUP35 isoform X2

See identical proteins and their annotated locations for XP_011508879.1

UniProtKB/TrEMBL

A8K3Z5

Conserved Domains (1) summary

cd12722
Location:155 → 228

RRM_Nup53; RNA recognition motif in nucleoporin Nup53
XM_011510576.4 → XP_011508878.1 nucleoporin NUP35 isoform X2

See identical proteins and their annotated locations for XP_011508878.1

UniProtKB/TrEMBL

A8K3Z5

Conserved Domains (1) summary

cd12722
Location:155 → 228

RRM_Nup53; RNA recognition motif in nucleoporin Nup53
XM_047443270.1 → XP_047299226.1 nucleoporin NUP35 isoform X2
XM_006712254.4 → XP_006712317.1 nucleoporin NUP35 isoform X2

See identical proteins and their annotated locations for XP_006712317.1

UniProtKB/TrEMBL

A8K3Z5

Conserved Domains (1) summary

cd12722
Location:155 → 228

RRM_Nup53; RNA recognition motif in nucleoporin Nup53
XM_017003308.1 → XP_016858797.1 nucleoporin NUP35 isoform X1

UniProtKB/TrEMBL

A8K3Z5

Conserved Domains (1) summary

cd12722
Location:175 → 248

RRM_Nup53; RNA recognition motif in nucleoporin Nup53

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

183606527..183650714

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340472.1 → XP_054196447.1 nucleoporin NUP35 isoform X2
XM_054340471.1 → XP_054196446.1 nucleoporin NUP35 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001008544.1: Suppressed sequence

Description

NM_001008544.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.