IPP intracisternal A particle-promoted polypeptide [Homo sapiens (human)] - Gene

Summary

Official Symbol: IPPprovided by HGNC
Official Full Name: intracisternal A particle-promoted polypeptideprovided by HGNC
Primary source: HGNC:HGNC:6108
See related: Ensembl:ENSG00000197429 MIM:147485; AllianceGenome:HGNC:6108
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: KLHL27
Summary: The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 2.7), testis (RPKM 2.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (45694324..45750653, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (45566668..45627842, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (46159996..46216325, complement)

Chromosome 1 - NC_000001.11 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 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?

Integrin-linked kinase (ILK) regulates KRAS, IPP complex and Ras suppressor-1 (RSU1) promoting lung adenocarcinoma progression and poor survival.
Title: Integrin-linked kinase (ILK) regulates KRAS, IPP complex and Ras suppressor-1 (RSU1) promoting lung adenocarcinoma progression and poor survival.
MicroRNA-Dependent Targeting of RSU1 and the IPP Adhesion Complex Regulates the PTEN/PI3K/AKT Signaling Pathway in Breast Cancer Cell Lines.
Title: MicroRNA-Dependent Targeting of RSU1 and the IPP Adhesion Complex Regulates the PTEN/PI3K/AKT Signaling Pathway in Breast Cancer Cell Lines.

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

RH65107 (e-PCR)
- UniSTS:90479

SHGC-147761 (e-PCR)
- UniSTS:175994

RH45806 (e-PCR)
- UniSTS:85431

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

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

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: actin-binding protein IPP

Names: kelch-like family member 27; kelch-like protein 27

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_001145349.2 → NP_001138821.1 actin-binding protein IPP isoform 2

See identical proteins and their annotated locations for NP_001138821.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site and alternate exon in the 3' coding region compared to variant 1, that results in a frameshift. This variant encodes isoform 2, which has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AK023880, BC032544, DA905423

Consensus CDS

CCDS44132.1

UniProtKB/Swiss-Prot

Q9Y573

Related

ENSP00000353024.4, ENST00000359942.8

Conserved Domains (2) summary

PHA03098
Location:30 → 540

PHA03098; kelch-like protein; Provisional

sd00038
Location:333 → 376

Kelch; KELCH repeat [structural motif]
NM_005897.3 → NP_005888.1 actin-binding protein IPP isoform 1

See identical proteins and their annotated locations for NP_005888.1

Status: REVIEWED

Description

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

Source sequence(s)

AK023880, AL604028, DA905423

Consensus CDS

CCDS30702.1

UniProtKB/Swiss-Prot

A2A6V4, D3DQ11, Q8N5C3, Q9Y573

Related

ENSP00000379739.3, ENST00000396478.4

Conserved Domains (2) summary

PHA03098
Location:30 → 575

PHA03098; kelch-like protein; Provisional

sd00038
Location:333 → 376

Kelch; KELCH repeat [structural motif]

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

45694324..45750653 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047419673.1 → XP_047275629.1 actin-binding protein IPP isoform X2
XM_006710623.5 → XP_006710686.1 actin-binding protein IPP isoform X3

Conserved Domains (5) summary

smart00612
Location:392 → 437

Kelch; Kelch domain

smart00225
Location:38 → 134

BTB; Broad-Complex, Tramtrack and Bric a brac

sd00038
Location:333 → 377

Kelch; KELCH repeat [structural motif]

pfam00651
Location:28 → 131

BTB; BTB/POZ domain

pfam07707
Location:139 → 241

BACK; BTB And C-terminal Kelch
XM_024446763.2 → XP_024302531.1 actin-binding protein IPP isoform X1

UniProtKB/Swiss-Prot

A2A6V4, D3DQ11, Q8N5C3, Q9Y573

Conserved Domains (2) summary

PHA03098
Location:30 → 575

PHA03098; kelch-like protein; Provisional

sd00038
Location:333 → 376

Kelch; KELCH repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

45566668..45627842 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336421.1 → XP_054192396.1 actin-binding protein IPP isoform X2
XM_054336424.1 → XP_054192399.1 actin-binding protein IPP isoform X3
XM_054336420.1 → XP_054192395.1 actin-binding protein IPP isoform X1

UniProtKB/Swiss-Prot

A2A6V4, D3DQ11, Q8N5C3, Q9Y573
XM_054336422.1 → XP_054192397.1 actin-binding protein IPP isoform X4
XM_054336423.1 → XP_054192398.1 actin-binding protein IPP isoform X5