KRI1 KRI1 homolog [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRI1provided by HGNC
Official Full Name: KRI1 homologprovided by HGNC
Primary source: HGNC:HGNC:25769
See related: Ensembl:ENSG00000129347 AllianceGenome:HGNC:25769
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: This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 16.4), lymph node (RPKM 12.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10553085..10566010, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10679543..10692470, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10663761..10676686, complement)

Chromosome 19 - NC_000019.10 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.

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

D11S2921 (e-PCR)
- UniSTS:152074

RH66593 (e-PCR)
- UniSTS:38748

PMC303366P8 (e-PCR)
- UniSTS:272515

CDKN2D_1963 (e-PCR)
- UniSTS:280494

RH94334 (e-PCR)
- UniSTS:84162

RH18055 (e-PCR)
- UniSTS:48360

SHGC-35402 (e-PCR)
- UniSTS:45802

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed

Process	Evidence Code	Pubs
involved_in endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of 90S preribosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: protein KRI1 homolog

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_023008.5 → NP_075384.4 protein KRI1 homolog

Status: VALIDATED

Source sequence(s)

BC002890, BC112251, BM676050, DA438802

Consensus CDS

CCDS12242.2

UniProtKB/Swiss-Prot

Q2M1R5, Q2M1R7, Q7L5J7, Q8N9T8, Q96G92, Q9BU50, Q9H6I1, Q9H978

UniProtKB/TrEMBL

A0A494C108

Related

ENSP00000320917.9, ENST00000312962.12

Conserved Domains (2) summary

pfam05178
Location:323 → 408

Kri1; KRI1-like family

pfam12936
Location:498 → 586

Kri1_C; KRI1-like family C-terminal

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

10553085..10566010 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528190.3 → XP_011526492.1 protein KRI1 homolog isoform X2

UniProtKB/TrEMBL

A0A494C108

Conserved Domains (2) summary

pfam05178
Location:211 → 296

Kri1; KRI1-like family

pfam12936
Location:386 → 474

Kri1_C; KRI1-like family C-terminal
XM_047439232.1 → XP_047295188.1 protein KRI1 homolog isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

10679543..10692470 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321789.1 → XP_054177764.1 protein KRI1 homolog isoform X2
XM_054321788.1 → XP_054177763.1 protein KRI1 homolog isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_178159.1: Suppressed sequence

Description

NM_178159.1: This RefSeq was permanently suppressed because it contains the wrong CDS. If the correct start site was annotated, then it would be a nonsense-mediated mRNA decay (NMD) candidate.