ASCC1 activating signal cointegrator 1 complex subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASCC1provided by HGNC
Official Full Name: activating signal cointegrator 1 complex subunit 1provided by HGNC
Primary source: HGNC:HGNC:24268
See related: Ensembl:ENSG00000138303 MIM:614215; AllianceGenome:HGNC:24268
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: p50; CGI-18; SMABF2; ASC1p50
Summary: This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in testis (RPKM 7.6), brain (RPKM 6.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (72096032..72217134, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (72966865..73088203, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (73855790..73976892, complement)

Chromosome 10 - NC_000010.11 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?

ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase.
Title: ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase.
Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
Title: Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Title: Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.
Title: Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
Title: A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women.
Title: Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women.
this work expands the ASCC1 mutation spectrum, sheds light on the muscle histology of the disorder and emphasises the physiological importance of the ASC-1 complex in fetal muscle and bone development.
Title: Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.
ASCC1 knockout through a CRISPR/Cas9 approach results in alkylation damage sensitivity in a manner epistatic with ASCC3.
Title: RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage.
Our patient was also found to have a homozygous frameshift variant (c.157dupG, p.Glu53Glyfs*19) in ASCC1 , thereby representing the second known case. This confirms ASCC1 involvement in a severe neuromuscular disease lying within the spinal muscular atrophy or primary muscle disease spectra
Title: The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.
ASCC1 inhibits NF-kappaB activation and a truncated and inactive variant of ASCC1 is associated with a more severe disease, which could have clinical value for assessing the progression and prognosis of Rheumatoid Arthritis.
Title: A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

Associated conditions

Description	Tests
Barrett esophagus MedGen: C0004763 OMIM: 614266 GeneReviews: Not available	Compare labs
Spinal muscular atrophy with congenital bone fractures 2 MedGen: C4225176 OMIM: 616867 GeneReviews: Not available	Compare labs

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

WI-17675 (e-PCR)
- UniSTS:45843

RH137 (e-PCR)
- UniSTS:58137

D10S1300E (e-PCR)
- UniSTS:151333

PMC156606P1 (e-PCR)
- UniSTS:271408

D9S1745E (e-PCR)
- UniSTS:153921

SHGC-5957 (e-PCR)
- UniSTS:23907

RH104093 (e-PCR)
- UniSTS:98418

D1S1423 (e-PCR)
- UniSTS:149619

D16S325 (e-PCR)
- UniSTS:147089

ASCC1_4380 (e-PCR)
- UniSTS:462749

D10S1349E (e-PCR)
- UniSTS:54731

D10S1351E (e-PCR)
- UniSTS:78052

G59519 (e-PCR)
- UniSTS:136682

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA alkylation repair	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA duplex unwinding	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of DNA repair complex	IPI Inferred from Physical Interaction more info	PubMed
located_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: activating signal cointegrator 1 complex subunit 1

Names: ASC-1 complex subunit P50; trip4 complex subunit p50

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.

Genomic

NG_031890.1 RefSeqGene

Range

5859..126103

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001198798.2 → NP_001185727.1 activating signal cointegrator 1 complex subunit 1 isoform b

See identical proteins and their annotated locations for NP_001185727.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks three exons in the coding region, which results in a translational frameshift, compared to variant 1. Variants 2 and 4 encode the same isoform (b) which is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AC022392, BC012291, DA951859

Consensus CDS

CCDS31219.1

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 356

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001198799.3 → NP_001185728.1 activating signal cointegrator 1 complex subunit 1 isoform a

See identical proteins and their annotated locations for NP_001185728.1

Status: REVIEWED

Description

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

Source sequence(s)

AC022392, AK094170, DA942671

Consensus CDS

CCDS55713.1

UniProtKB/Swiss-Prot

Q5SW06, Q5SW07, Q8N9N2, Q96EI8, Q9Y307

UniProtKB/TrEMBL

A0A5F9ZHP1

Related

ENSP00000339404.4, ENST00000342444.8

Conserved Domains (3) summary

PLN00108
Location:157 → 370

PLN00108; unknown protein; Provisional

cd02394
Location:99 → 148

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:161 → 349

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001198800.3 → NP_001185729.1 activating signal cointegrator 1 complex subunit 1 isoform b

See identical proteins and their annotated locations for NP_001185729.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks three exons in the coding region, which results in a translational frameshift, compared to variant 1. Variants 2 and 4 encode the same isoform (b) which is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AC022392, AK023436

Consensus CDS

CCDS31219.1

UniProtKB/TrEMBL

A0A5F9ZHP1

Related

ENSP00000500935.1, ENST00000672957.1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 356

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369085.1 → NP_001356014.1 activating signal cointegrator 1 complex subunit 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

B7Z518

Conserved Domains (2) summary

cd02394
Location:84 → 142

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:155 → 354

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369086.1 → NP_001356015.1 activating signal cointegrator 1 complex subunit 1 isoform 4

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

B7Z518

Conserved Domains (2) summary

cd02394
Location:84 → 142

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:155 → 354

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369087.1 → NP_001356016.1 activating signal cointegrator 1 complex subunit 1 isoform 5

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 332

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369088.1 → NP_001356017.1 activating signal cointegrator 1 complex subunit 1 isoform 5

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 332

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369089.1 → NP_001356018.1 activating signal cointegrator 1 complex subunit 1 isoform 5

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 332

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369090.1 → NP_001356019.1 activating signal cointegrator 1 complex subunit 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

H0YCB3

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 332

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369091.1 → NP_001356020.1 activating signal cointegrator 1 complex subunit 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

H0YCB3

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 332

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369092.1 → NP_001356021.1 activating signal cointegrator 1 complex subunit 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

H0YCB3

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 332

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369093.1 → NP_001356022.1 activating signal cointegrator 1 complex subunit 1 isoform b

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

Consensus CDS

CCDS31219.1

UniProtKB/TrEMBL

A0A5F9ZHP1

Related

ENSP00000500488.1, ENST00000672774.1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 356

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369094.1 → NP_001356023.1 activating signal cointegrator 1 complex subunit 1 isoform b

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

Consensus CDS

CCDS31219.1

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 356

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369095.1 → NP_001356024.1 activating signal cointegrator 1 complex subunit 1 isoform b

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

Consensus CDS

CCDS31219.1

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 356

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369096.1 → NP_001356025.1 activating signal cointegrator 1 complex subunit 1 isoform 7

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 313

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369097.1 → NP_001356026.1 activating signal cointegrator 1 complex subunit 1 isoform 7

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 313

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369098.1 → NP_001356027.1 activating signal cointegrator 1 complex subunit 1 isoform 7

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 313

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369099.1 → NP_001356028.1 activating signal cointegrator 1 complex subunit 1 isoform 8

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

B7Z518

Conserved Domains (2) summary

cd02394
Location:84 → 142

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:155 → 338

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369100.1 → NP_001356029.1 activating signal cointegrator 1 complex subunit 1 isoform 9

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 292

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369101.1 → NP_001356030.1 activating signal cointegrator 1 complex subunit 1 isoform 10

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

H0YCB3

Conserved Domains (2) summary

cd02394
Location:23 → 81

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:94 → 293

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369102.1 → NP_001356031.1 activating signal cointegrator 1 complex subunit 1 isoform 10

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

H0YCB3

Related

ENSP00000431299.1, ENST00000486689.6

Conserved Domains (2) summary

cd02394
Location:23 → 81

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:94 → 293

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369103.1 → NP_001356032.1 activating signal cointegrator 1 complex subunit 1 isoform 11

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 292

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369104.1 → NP_001356033.1 activating signal cointegrator 1 complex subunit 1 isoform 11

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 292

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369105.1 → NP_001356034.1 activating signal cointegrator 1 complex subunit 1 isoform 12

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:23 → 81

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:94 → 317

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369106.1 → NP_001356035.1 activating signal cointegrator 1 complex subunit 1 isoform 12

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:23 → 81

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:94 → 317

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369107.1 → NP_001356036.1 activating signal cointegrator 1 complex subunit 1 isoform 12

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:23 → 81

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:94 → 317

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369108.1 → NP_001356037.1 activating signal cointegrator 1 complex subunit 1 isoform 13

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

Consensus CDS

CCDS91260.1

UniProtKB/TrEMBL

A0A5F9ZH79, A0A5F9ZHP1

Related

ENSP00000500074.1, ENST00000672940.1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 316

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369109.1 → NP_001356038.1 activating signal cointegrator 1 complex subunit 1 isoform 13

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

Consensus CDS

CCDS91260.1

UniProtKB/TrEMBL

A0A5F9ZH79, A0A5F9ZHP1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 316

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369110.1 → NP_001356039.1 activating signal cointegrator 1 complex subunit 1 isoform 14

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZI37

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 287

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369111.1 → NP_001356040.1 activating signal cointegrator 1 complex subunit 1 isoform 14

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

UniProtKB/TrEMBL

A0A5F9ZI37

Related

ENSP00000500906.1, ENST00000671788.1

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:133 → 287

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
NM_001369112.1 → NP_001356041.1 activating signal cointegrator 1 complex subunit 1 isoform 15

Status: REVIEWED

Source sequence(s)

AC022392, AL607035

Consensus CDS

CCDS91259.1

UniProtKB/TrEMBL

A0A5K1VW55

Related

ENSP00000320810.7, ENST00000317168.11

Conserved Domains (2) summary

cd02394
Location:62 → 120

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

cl26521
Location:133 → 247

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

RNA

NR_045564.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate 5'-most exon and lacks three internal exons, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC022392, AK298302, CD706699, DC361917

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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

72096032..72217134 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425261.1 → XP_047281217.1 activating signal cointegrator 1 complex subunit 1 isoform X6
XM_047425258.1 → XP_047281214.1 activating signal cointegrator 1 complex subunit 1 isoform X4
XM_047425257.1 → XP_047281213.1 activating signal cointegrator 1 complex subunit 1 isoform X3
XM_047425259.1 → XP_047281215.1 activating signal cointegrator 1 complex subunit 1 isoform X5
XM_024448032.2 → XP_024303800.1 activating signal cointegrator 1 complex subunit 1 isoform X1

UniProtKB/TrEMBL

B7Z518

Conserved Domains (2) summary

cd02394
Location:84 → 142

vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

pfam10469
Location:155 → 335

AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
XM_047425256.1 → XP_047281212.1 activating signal cointegrator 1 complex subunit 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

72966865..73088203 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054365974.1 → XP_054221949.1 activating signal cointegrator 1 complex subunit 1 isoform X6
XM_054365972.1 → XP_054221947.1 activating signal cointegrator 1 complex subunit 1 isoform X4
XM_054365971.1 → XP_054221946.1 activating signal cointegrator 1 complex subunit 1 isoform X3
XM_054365973.1 → XP_054221948.1 activating signal cointegrator 1 complex subunit 1 isoform X5
XM_054365969.1 → XP_054221944.1 activating signal cointegrator 1 complex subunit 1 isoform X1
XM_054365970.1 → XP_054221945.1 activating signal cointegrator 1 complex subunit 1 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_015947.3: Suppressed sequence

Description

NM_015947.3: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.