RUSC1 RUN and SH3 domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RUSC1provided by HGNC
Official Full Name: RUN and SH3 domain containing 1provided by HGNC
Primary source: HGNC:HGNC:17153
See related: Ensembl:ENSG00000160753 MIM:617318; AllianceGenome:HGNC:17153
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: NESCA
Summary: Predicted to enable actin binding activity. Involved in protein polyubiquitination. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 8.6), prostate (RPKM 6.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q22

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (155320894..155331118)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (154459434..154469658)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (155290685..155300909)

Chromosome 1 - NC_000001.11 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?

LncRNA RUSC1-AS1 promotes osteosarcoma progression through regulating the miR-340-5p and PI3K/AKT pathway.
Title: LncRNA RUSC1-AS1 promotes osteosarcoma progression through regulating the miR-340-5p and PI3K/AKT pathway.
The present study demonstrated that lncRNA RUSC1ASN promoted cell viability and metastasis via Wnt/betacatenin signaling in human breast cancer.
Title: Long noncoding RNA RUSC1‑AS‑N promotes cell proliferation and metastasis through Wnt/β‑catenin signaling in human breast cancer.
AP-4 deficiency causes missorting of ATG9A in diverse cell types, including patient-derived cells, as well as dysregulation of autophagy.
Title: AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A.
RUN domain of NESCA can bind H-Ras, a downstream signaling molecule of TrkA, with high affinity. Moreover, NESCA RUN can directly interact with TrkA.
Title: Crystal structure and functional implication of the RUN domain of human NESCA.
Nesca functions as an adapter involved in neuronal vesicular transport
Title: Nesca, a novel neuronal adapter protein, links the molecular motor kinesin with the pre-synaptic membrane protein, syntaxin-1, in hippocampal neurons.
Data show that NESCA and NEMO interact by their N-terminal region, that NESCA directly associates with TRAF6, which in turn catalyzes NESCA polyubiquitination, and that NESCA overexpression strongly inhibits TRAF6-mediated polyubiquitination of NEMO.
Title: NESCA: a new NEMO/IKKgamma and TRAF6 interacting protein.

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

RH12028 (e-PCR)
- UniSTS:43520

RH79692 (e-PCR)
- UniSTS:86035

RH91444 (e-PCR)
- UniSTS:88707

SHGC-32326 (e-PCR)
- UniSTS:60307

D15S1171 (e-PCR)
- UniSTS:66748

RH68206 (e-PCR)
- UniSTS:89306

SHGC-2651 (e-PCR)
- UniSTS:88811

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in microtubule cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: AP-4 complex accessory subunit RUSC1

Names: RUN and SH3 domain-containing protein 1; new molecule containing SH3 at the carboxy-terminus

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_001105203.2 → NP_001098673.1 AP-4 complex accessory subunit RUSC1 isoform a

See identical proteins and their annotated locations for NP_001098673.1

Status: VALIDATED

Description

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

Source sequence(s)

BC025680, DA099897

Consensus CDS

CCDS41410.1

UniProtKB/Swiss-Prot

B3KWM9, Q5T9U9, Q5T9V0, Q5T9V1, Q5T9V2, Q9BVN2, Q9UPY4, Q9Y4T5

Related

ENSP00000357336.5, ENST00000368352.10

Conserved Domains (2) summary

cd11958
Location:848 → 899

SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1

pfam02759
Location:530 → 640

RUN; RUN domain
NM_001105204.2 → NP_001098674.1 AP-4 complex accessory subunit RUSC1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AK125378, BC025680, BQ004124, DA099897

Consensus CDS

CCDS41411.1

UniProtKB/Swiss-Prot

Q9BVN2

Related

ENSP00000357338.3, ENST00000368354.7

Conserved Domains (2) summary

pfam02759
Location:530 → 621

RUN; RUN domain

cl17036
Location:742 → 793

SH3; Src Homology 3 domain superfamily
NM_001105205.1 → NP_001098675.1 AP-4 complex accessory subunit RUSC1 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

BC052277, BQ004124

Consensus CDS

CCDS41412.1

UniProtKB/Swiss-Prot

Q9BVN2

Related

ENSP00000357331.4, ENST00000368347.8

Conserved Domains (2) summary

cd11958
Location:438 → 489

SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1

pfam02759
Location:120 → 230

RUN; RUN domain
NM_001278227.1 → NP_001265156.1 AP-4 complex accessory subunit RUSC1 isoform e

See identical proteins and their annotated locations for NP_001265156.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (e) is shorter and has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AK298730, BC052277, BQ004124

UniProtKB/TrEMBL

B4DQB8

Conserved Domains (2) summary

cd11958
Location:346 → 397

SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1

cl02689
Location:42 → 138

RUN; RUN domain
NM_001278228.1 → NP_001265157.1 AP-4 complex accessory subunit RUSC1 isoform f

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1. It initiates translation at an alternate start codon. The encoded isoform (f) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AK074982, AK307736, BC052277, BQ004124

UniProtKB/Swiss-Prot

Q9BVN2

Conserved Domains (2) summary

pfam02759
Location:55 → 165

RUN; RUN domain

cl17036
Location:373 → 424

SH3; Src Homology 3 domain superfamily
NM_001278229.1 → NP_001265158.1 AP-4 complex accessory subunit RUSC1 isoform g

See identical proteins and their annotated locations for NP_001265158.1

Status: VALIDATED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (g) is shorter and has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AK074982, AK298730, BC052277, BQ004124, BX402179

UniProtKB/TrEMBL

A0A087WX95

Related

ENSP00000480831.1, ENST00000479924.5

Conserved Domains (2) summary

cl02689
Location:61 → 152

RUN; RUN domain

cl17036
Location:273 → 324

SH3; Src Homology 3 domain superfamily
NM_001278230.2 → NP_001265159.1 AP-4 complex accessory subunit RUSC1 isoform d

See identical proteins and their annotated locations for NP_001265159.1

Status: VALIDATED

Description

Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a. Variants 1 and 8 encode the same isoform (d).

Source sequence(s)

AL139410

Consensus CDS

CCDS1112.1

UniProtKB/Swiss-Prot

Q9BVN2

Related

ENSP00000292254.4, ENST00000292254.8

Conserved Domains (2) summary

cd11958
Location:379 → 430

SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1

pfam02759
Location:61 → 171

RUN; RUN domain
NM_014328.4 → NP_055143.2 AP-4 complex accessory subunit RUSC1 isoform d

See identical proteins and their annotated locations for NP_055143.2

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a. Variants 1 and 8 encode the same isoform (d).

Source sequence(s)

AK074982, BC052277, BQ004124, DA131200

Consensus CDS

CCDS1112.1

UniProtKB/Swiss-Prot

Q9BVN2

Related

ENSP00000357333.4, ENST00000368349.8

Conserved Domains (2) summary

cd11958
Location:379 → 430

SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1

pfam02759
Location:61 → 171

RUN; RUN domain

RNA

NR_103478.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (9) contains multiple differences, compared to variant 1, including the lack of multiple 5' exons. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.

Source sequence(s)

AL139410

Related

ENST00000471876.5

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

155320894..155331118

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047416644.1 → XP_047272600.1 AP-4 complex accessory subunit RUSC1 isoform X3

UniProtKB/Swiss-Prot

B3KWM9, Q5T9U9, Q5T9V0, Q5T9V1, Q5T9V2, Q9BVN2, Q9UPY4, Q9Y4T5
XM_006711254.3 → XP_006711317.1 AP-4 complex accessory subunit RUSC1 isoform X1

UniProtKB/TrEMBL

A0A8Q3SIT1

Related

ENSP00000512744.1, ENST00000696599.1

Conserved Domains (2) summary

cd11958
Location:985 → 1036

SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1

pfam02759
Location:667 → 777

RUN; RUN domain
XM_006711256.3 → XP_006711319.1 AP-4 complex accessory subunit RUSC1 isoform X2

Conserved Domains (2) summary

cd11958
Location:879 → 930

SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1

pfam02759
Location:667 → 758

RUN; RUN domain
XM_017000891.2 → XP_016856380.1 AP-4 complex accessory subunit RUSC1 isoform X1

UniProtKB/TrEMBL

A0A8Q3SIT1

Conserved Domains (2) summary

cd11958
Location:985 → 1036

SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1

pfam02759
Location:667 → 777

RUN; RUN domain
XM_006711257.2 → XP_006711320.1 AP-4 complex accessory subunit RUSC1 isoform X4

See identical proteins and their annotated locations for XP_006711320.1

UniProtKB/Swiss-Prot

Q9BVN2

Conserved Domains (2) summary

cd11958
Location:379 → 430

SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1

pfam02759
Location:61 → 171

RUN; RUN domain
XM_047416653.1 → XP_047272609.1 AP-4 complex accessory subunit RUSC1 isoform X5

RNA

XR_007058572.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

154459434..154469658

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335726.1 → XP_054191701.1 AP-4 complex accessory subunit RUSC1 isoform X1

UniProtKB/TrEMBL

A0A8Q3SIT1
XM_054335727.1 → XP_054191702.1 AP-4 complex accessory subunit RUSC1 isoform X2
XM_054335728.1 → XP_054191703.1 AP-4 complex accessory subunit RUSC1 isoform X4
XM_054335729.1 → XP_054191704.1 AP-4 complex accessory subunit RUSC1 isoform X5