ANKIB1 ankyrin repeat and IBR domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKIB1provided by HGNC
Official Full Name: ankyrin repeat and IBR domain containing 1provided by HGNC
Primary source: HGNC:HGNC:22215
See related: Ensembl:ENSG00000001629 MIM:620069; AllianceGenome:HGNC:22215
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
Summary: Predicted to enable ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase activity. Predicted to be involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process; protein polyubiquitination; and ubiquitin-dependent protein catabolic process. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 9.0), testis (RPKM 8.7) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 7q21.2

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (92245974..92401383)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (93487261..93642673)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (91875288..92030697)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

circCsnk1g3- and circAnkib1-regulated interferon responses in sarcoma promote tumorigenesis by shaping the immune microenvironment.
Title: circCsnk1g3- and circAnkib1-regulated interferon responses in sarcoma promote tumorigenesis by shaping the immune microenvironment.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D7S548E (e-PCR)
- UniSTS:28428

G17116 (e-PCR)
- UniSTS:36181

D7S2094E (e-PCR)
- UniSTS:41840

RH103059 (e-PCR)
- UniSTS:97393

D7S2167E (e-PCR)
- UniSTS:151155

SHGC-56136 (e-PCR)
- UniSTS:13220

D7S2796 (e-PCR)
- UniSTS:3527

D7S2921 (e-PCR)
- UniSTS:65742

RH80670 (e-PCR)
- UniSTS:90064

SHGC-56138 (e-PCR)
- UniSTS:51446

G31812 (e-PCR)
- UniSTS:30455

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin conjugating enzyme binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: ankyrin repeat and IBR domain-containing protein 1

NP_061877.1

EC 2.3.2.31

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_019004.2 → NP_061877.1 ankyrin repeat and IBR domain-containing protein 1

See identical proteins and their annotated locations for NP_061877.1

Status: VALIDATED

Source sequence(s)

AB037807, AC000120, AC007566, BC063861

Consensus CDS

CCDS47639.1

UniProtKB/Swiss-Prot

Q6GMS4, Q6P3S9, Q9NTD7, Q9NW49, Q9P2G1

Related

ENSP00000265742.3, ENST00000265742.8

Conserved Domains (5) summary

cd00204
Location:47 → 194

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 ...

pfam01485
Location:402 → 475

IBR; IBR domain, a half RING-finger domain

pfam12796
Location:50 → 175

Ank_2; Ankyrin repeats (3 copies)

pfam13639
Location:333 → 379

zf-RING_2; Ring finger domain

sd00045
Location:47 → 76

ANK; ANK repeat [structural motif]