CDIP1 cell death inducing p53 target 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDIP1provided by HGNC
Official Full Name: cell death inducing p53 target 1provided by HGNC
Primary source: HGNC:HGNC:13234
See related: Ensembl:ENSG00000089486 MIM:610503; AllianceGenome:HGNC:13234
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: I1; CDIP; LITAFL; C16orf5
Summary: Predicted to enable metal ion binding activity. Acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator and tumor necrosis factor-mediated signaling pathway. Located in cytoplasmic side of late endosome membrane; cytoplasmic side of lysosomal membrane; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 37.0), kidney (RPKM 18.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (4510669..4538773, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (4540144..4568234, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (4560670..4588774, complement)

Chromosome 16 - NC_000016.10 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?

Role of ELK1 in regulating colorectal cancer progression: miR-31-5p/CDIP1 axis in CRC pathogenesis.
Title: Role of ELK1 in regulating colorectal cancer progression: miR-31-5p/CDIP1 axis in CRC pathogenesis.
The Novel ALG-2 Target Protein CDIP1 Promotes Cell Death by Interacting with ESCRT-I and VAPA/B.
Title: The Novel ALG-2 Target Protein CDIP1 Promotes Cell Death by Interacting with ESCRT-I and VAPA/B.
Study conclude that LITAF is a monotopic membrane protein whose membrane integration is stabilised by a zinc finger. The related human protein, CDIP1 (cell death involved p53 target 1), displays identical membrane topology, suggesting that this mode of membrane integration is conserved in LITAF family proteins.
Title: The Charcot Marie Tooth disease protein LITAF is a zinc-binding monotopic membrane protein.
CDIP expression correlates with sensitivity of cancer cells with TNFalpha, and CDIP seems to be a regulator of the p53-mediated death versus survival response of cells to TNFalpha.
Title: Expression of the p53 target CDIP correlates with sensitivity to TNFα-induced apoptosis in cancer cells.
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.
These findings support a novel p53 --> CDIP --> TNF-alpha apoptotic pathway that directs apoptosis after exposure of cells to genotoxic stress.
Title: CDIP, a novel pro-apoptotic gene, regulates TNFalpha-mediated apoptosis in a p53-dependent manner.

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

D16S453 (e-PCR)
- UniSTS:148242

SHGC-60696 (e-PCR)
- UniSTS:81175

SHGC-61112 (e-PCR)
- UniSTS:51490

D16S2655 (e-PCR)
- UniSTS:152395

SHGC-60771 (e-PCR)
- UniSTS:77968

SHGC-60849 (e-PCR)
- UniSTS:58310

D16S2980 (e-PCR)
- UniSTS:2520

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasmic side of late endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic side of late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic side of lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic side of lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: cell death-inducing p53-target protein 1

Names: LITAF-like protein; cell death inducing protein; cell death involved p53-target; lipopolysaccharide-induced tumor necrosis factor-alpha-like protein; transmembrane protein I1

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_001199054.2 → NP_001185983.1 cell death-inducing p53-target protein 1 isoform a

See identical proteins and their annotated locations for NP_001185983.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC007606, AL833853

Consensus CDS

CCDS42114.1

UniProtKB/Swiss-Prot

A8K7M1, B4DFU1, B4DY75, D3DUD6, Q96ID8, Q9H0Q4, Q9H305, Q9P112

Related

ENSP00000454994.1, ENST00000563332.6

Conserved Domains (1) summary

pfam10601
Location:137 → 203

zf-LITAF-like; LITAF-like zinc ribbon domain
NM_001199055.2 → NP_001185984.1 cell death-inducing p53-target protein 1 isoform b

See identical proteins and their annotated locations for NP_001185984.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC007606, AK294257

Consensus CDS

CCDS58419.1

UniProtKB/Swiss-Prot

Q9H305

Related

ENSP00000455462.1, ENST00000563507.5

Conserved Domains (1) summary

pfam10601
Location:98 → 166

zf-LITAF-like; LITAF-like zinc ribbon domain
NM_001199056.2 → NP_001185985.1 cell death-inducing p53-target protein 1 isoform c

See identical proteins and their annotated locations for NP_001185985.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate internal segemnt compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC007606, AK302297

Consensus CDS

CCDS58420.1

UniProtKB/Swiss-Prot

Q9H305

Related

ENSP00000455050.1, ENST00000562334.5

Conserved Domains (1) summary

pfam10601
Location:58 → 126

zf-LITAF-like; LITAF-like zinc ribbon domain
NM_013399.3 → NP_037531.2 cell death-inducing p53-target protein 1 isoform a

See identical proteins and their annotated locations for NP_037531.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC007606, BC002882, DA055704

Consensus CDS

CCDS42114.1

UniProtKB/Swiss-Prot

A8K7M1, B4DFU1, B4DY75, D3DUD6, Q96ID8, Q9H0Q4, Q9H305, Q9P112

Related

ENSP00000457877.1, ENST00000567695.6

Conserved Domains (1) summary

pfam10601
Location:137 → 203

zf-LITAF-like; LITAF-like zinc ribbon domain