ANKRD42 ankyrin repeat domain 42 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKRD42provided by HGNC
Official Full Name: ankyrin repeat domain 42provided by HGNC
Primary source: HGNC:HGNC:26752
See related: Ensembl:ENSG00000137494 MIM:619778; AllianceGenome:HGNC:26752
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: SARP; PPP1R79
Summary: Predicted to enable NF-kappaB binding activity. Predicted to act upstream of or within positive regulation of NF-kappaB transcription factor activity and positive regulation of cytokine production involved in inflammatory response. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis (RPKM 10.9), thyroid (RPKM 3.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q14.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (83193712..83256099)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (83130185..83192552)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (82904754..82967141)

Chromosome 11 - NC_000011.10 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?

Genome-wide CRISPR screening identifies the pivotal role of ANKRD42 in colorectal cancer metastasis through EMT regulation.
Title: Genome-wide CRISPR screening identifies the pivotal role of ANKRD42 in colorectal cancer metastasis through EMT regulation.
the cloning and characterization of a new protein, termed SARP (several ankyrin repeat protein), which is shown to interact with all isoforms of PP1 by a variety of techniques.
Title: SARP, a new alternatively spliced protein phosphatase 1 and DNA 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

RH70808 (e-PCR)
- UniSTS:88433

A004Q14 (e-PCR)
- UniSTS:62591

RH103618 (e-PCR)
- UniSTS:97943

D11S3248 (e-PCR)
- UniSTS:152493

NoName (e-PCR)
- UniSTS:486135

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NF-kappaB binding	IBA Inferred from Biological aspect of Ancestor more info
enables cyclin-dependent protein serine/threonine kinase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ankyrin repeat domain-containing protein 42

Names: protein phosphatase 1, regulatory subunit 79; several ankyrin repeat protein

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_001300972.2 → NP_001287901.1 ankyrin repeat domain-containing protein 42 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AP000873, BC045621, BU674837, DQ508815

Consensus CDS

CCDS76458.1

UniProtKB/TrEMBL

A1XPJ0, E9PP91

Related

ENSP00000434666.1, ENST00000531895.5

Conserved Domains (3) summary

cd00204
Location:59 → 179

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:59 → 90

ANK; ANK repeat [structural motif]

cl25732
Location:332 → 482

SMC_N; RecF/RecN/SMC N terminal domain
NM_001300973.2 → NP_001287902.1 ankyrin repeat domain-containing protein 42 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 5' end and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) lacks an alternate internal aa and has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AP000873, BC045621, BU674837, EF041819

Consensus CDS

CCDS76457.1

UniProtKB/TrEMBL

A1XPJ0, F8W6I9

Related

ENSP00000260047.6, ENST00000260047.10

Conserved Domains (3) summary

cd00204
Location:59 → 178

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:59 → 90

ANK; ANK repeat [structural motif]

cl25732
Location:331 → 481

SMC_N; RecF/RecN/SMC N terminal domain
NM_001300975.2 → NP_001287904.1 ankyrin repeat domain-containing protein 42 isoform 1

Status: VALIDATED

Description

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

Source sequence(s)

AP000873, BC045621, BC171752

Consensus CDS

CCDS76459.1

UniProtKB/TrEMBL

A1XPJ0, E9PIL2

Related

ENSP00000435790.1, ENST00000533342.6

Conserved Domains (7) summary

COG0666
Location:94 → 375

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00204
Location:59 → 179

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam08663
Location:430 → 472

HalX; HalX domain

pfam12796
Location:64 → 156

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:26 → 80

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:59 → 90

ANK; ANK repeat [structural motif]

cl09111
Location:394 → 482

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
NM_001300976.2 → NP_001287905.1 ankyrin repeat domain-containing protein 42 isoform 5

See identical proteins and their annotated locations for NP_001287905.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AP000873, BC045621, BX648690

Consensus CDS

CCDS73356.1

UniProtKB/TrEMBL

E9PKE2

Related

ENSP00000433585.1, ENST00000526731.5

Conserved Domains (3) summary

cd00204
Location:59 → 179

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:59 → 90

ANK; ANK repeat [structural motif]

cl00748
Location:210 → 230

Ribosomal_L32_L32e; Ribosomal_L32_L32e: L32 is a protein from the large subunit that contains a surface-exposed globular domain and a finger-like projection that extends into the RNA core to stabilize the tertiary structure. L32 does not appear to play a role in forming the ...
NM_001300977.2 → NP_001287906.1 ankyrin repeat domain-containing protein 42 isoform 6

See identical proteins and their annotated locations for NP_001287906.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (6) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AP000873, BC045621, BX648690

Consensus CDS

CCDS73355.1

UniProtKB/Swiss-Prot

Q8N9B4

Related

ENSP00000377049.3, ENST00000393389.7

Conserved Domains (2) summary

cd00204
Location:59 → 179

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:59 → 90

ANK; ANK repeat [structural motif]
NM_001433541.1 → NP_001420470.1 ankyrin repeat domain-containing protein 42 isoform 7

Status: VALIDATED

Source sequence(s)

AP000873

UniProtKB/TrEMBL

A1XPJ0
NM_182603.4 → NP_872409.2 ankyrin repeat domain-containing protein 42 isoform 4

See identical proteins and their annotated locations for NP_872409.2

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice junction in the 5' end and lacks an alternate exon in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus and lacks an alternate internal segment compared to isoform 1.

Source sequence(s)

AK095193, AP000873, BC045621

Consensus CDS

CCDS8265.1

UniProtKB/Swiss-Prot

Q49A49, Q8N9B4

Related

ENSP00000377051.2, ENST00000393392.6

Conserved Domains (3) summary

cd00204
Location:65 → 184

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:64 → 95

ANK; ANK repeat [structural motif]

pfam13637
Location:30 → 85

Ank_4; Ankyrin repeats (many copies)

RNA

NR_125355.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (7) uses an alternate splice junction at the 3' end of the first exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AK310765, AP000873, BC045621, BX648690