ACD ACD shelterin complex subunit and telomerase recruitment factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACDprovided by HGNC
Official Full Name: ACD shelterin complex subunit and telomerase recruitment factorprovided by HGNC
Primary source: HGNC:HGNC:25070
See related: Ensembl:ENSG00000102977 MIM:609377; AllianceGenome:HGNC:25070
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: PIP1; PTOP; TPP1; TINT1
Summary: This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
Annotation information: Note: TPP1 (Gene ID: 1200) and ACD (Gene ID: 65057) share the TPP1 symbol/alias in common. TPP1 is a widely used alternative name for ACD, shelterin complex subunit and telomerase recruitment factor (ACD), which can be confused with the official symbol for TPP1 (tripeptidyl peptidase 1, GeneID 1200). [01 Jun 2018]
Expression: Ubiquitous expression in ovary (RPKM 8.8), testis (RPKM 8.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (67657512..67660260, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (73452280..73455028, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (67691415..67694163, complement)

Chromosome 16 - NC_000016.10 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 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?

TPP1 is associated with risk of advanced precursors and cervical cancer survival.
Title: TPP1 is associated with risk of advanced precursors and cervical cancer survival.
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Title: Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
Title: CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
Complex interaction network revealed by mutation of human telomerase 'insertion in fingers' and essential N-terminal domains and the telomere protein TPP1.
Title: Complex interaction network revealed by mutation of human telomerase 'insertion in fingers' and essential N-terminal domains and the telomere protein TPP1.
TPP1 promoter mutations cooperate with TERT promoter mutations to lengthen telomeres in melanoma.
Title: TPP1 promoter mutations cooperate with TERT promoter mutations to lengthen telomeres in melanoma.
Coordinated interactions of multiple POT1-TPP1 proteins with telomere DNA.
Title: Coordinated interactions of multiple POT1-TPP1 proteins with telomere DNA.
Two Separation-of-Function Isoforms of Human TPP1 Dictate Telomerase Regulation in Somatic and Germ Cells.
Title: Two Separation-of-Function Isoforms of Human TPP1 Dictate Telomerase Regulation in Somatic and Germ Cells.
Dynamic peptides of human TPP1 fulfill diverse functions in telomere maintenance.
Title: Dynamic peptides of human TPP1 fulfill diverse functions in telomere maintenance.
NEK6-mediated phosphorylation of human TPP1 regulates telomere length through telomerase recruitment.
Title: NEK6-mediated phosphorylation of human TPP1 regulates telomere length through telomerase recruitment.
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Title: Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

Submit: New GeneRIF Correction See all GeneRIFs (71)

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

Associated conditions

Description	Tests
Dyskeratosis congenita, autosomal dominant 6 MedGen: C4225284 OMIM: 616553 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH64901 (e-PCR)
- UniSTS:89097

RH78775 (e-PCR)
- UniSTS:3597

SHGC-61086 (e-PCR)
- UniSTS:59975

LOC24432 (e-PCR)
- UniSTS:278671

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA polymerase binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA polymerase binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomerase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization to telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization to telomere	TAS Traceable Author Statement more info	PubMed
involved_in intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of single-stranded telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in protection from non-homologous end joining at telomere	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein localization to chromosome, telomeric region	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to chromosome, telomeric region	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of establishment of protein localization to telomere	IDA Inferred from Direct Assay more info	PubMed
involved_in segmentation	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in telomere assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere capping	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere capping	IGI Inferred from Genetic Interaction more info	PubMed
involved_in telomere capping	NAS Non-traceable Author Statement more info	PubMed
involved_in telomere capping	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within telomere maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance via telomerase	TAS Traceable Author Statement more info	PubMed
involved_in urogenital system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	HDA more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
part_of nuclear telomere cap complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of shelterin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of shelterin complex	IDA Inferred from Direct Assay more info	PubMed
part_of shelterin complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of shelterin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of shelterin complex	TAS Traceable Author Statement more info	PubMed
part_of telomerase holoenzyme complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: adrenocortical dysplasia protein homolog

Names: POT1 and TIN2-interacting protein; TIN2 interacting protein 1; adrenocortical dysplasia 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.

Genomic

NG_042874.1 RefSeqGene

Range

5556..8304

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1237

mRNA and Protein(s)

NM_001082486.2 → NP_001075955.2 adrenocortical dysplasia protein homolog isoform 1

Status: REVIEWED

Description

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

Source sequence(s)

AF070535, BC016904

Consensus CDS

CCDS42181.2

UniProtKB/Swiss-Prot

A0A0C4DGT6, Q562H5, Q96AP0, Q9H8F9

UniProtKB/TrEMBL

A0A8Q3SHY1

Related

ENSP00000478084.1, ENST00000620761.6

Conserved Domains (3) summary

PRK13042
Location:286 → 381

PRK13042; superantigen-like protein SSL4; Reviewed

PHA03247
Location:242 → 453

PHA03247; large tegument protein UL36; Provisional

pfam10341
Location:11 → 109

TPP1; Shelterin complex subunit, TPP1/ACD
NM_001410884.1 → NP_001397813.1 adrenocortical dysplasia protein homolog isoform 3

Status: REVIEWED

Source sequence(s)

AC010530

Consensus CDS

CCDS92179.1

UniProtKB/TrEMBL

A0A8Q3WM11

Related

ENSP00000512106.1, ENST00000695697.1
NM_022914.3 → NP_075065.3 adrenocortical dysplasia protein homolog isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).

Source sequence(s)

AF070535, AK023726

Consensus CDS

CCDS10842.2

UniProtKB/TrEMBL

A0A8Q3SHY1

Related

ENSP00000219251.8, ENST00000219251.13

Conserved Domains (3) summary

pfam10341
Location:12 → 116

TPP1; Shelterin complex subunit, TPP1/ACD

cl26464
Location:239 → 450

Atrophin-1; Atrophin-1 family

cl27863
Location:283 → 378

SSL_OB; Staphylococcal superantigen-like OB-fold domain

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_000016.10 Reference GRCh38.p14 Primary Assembly

Range

67657512..67660260 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_429728.4 RNA Sequence

Related

ENST00000695650.1

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

73452280..73455028 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_008484726.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001082487.1: Suppressed sequence

Description

NM_001082487.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.