TTPAL alpha tocopherol transfer protein like [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTPALprovided by HGNC
Official Full Name: alpha tocopherol transfer protein likeprovided by HGNC
Primary source: HGNC:HGNC:16114
See related: Ensembl:ENSG00000124120 AllianceGenome:HGNC:16114
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: C20orf121
Summary: Predicted to enable phosphatidylinositol bisphosphate binding activity. Located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in skin (RPKM 4.7), thyroid (RPKM 4.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (44475874..44494603)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (46211640..46230370)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (43104514..43123244)

Chromosome 20 - NC_000020.11 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
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?

Investigation of the expression levels of CDH1, FHIT, PTEN, and TTPAL genes in colorectal tumors.
Title: Investigation of the expression levels of CDH1, FHIT, PTEN, and TTPAL genes in colorectal tumors.
TTPAL promotes gastric tumorigenesis by directly targeting NNMT to activate PI3K/AKT signaling.
Title: TTPAL promotes gastric tumorigenesis by directly targeting NNMT to activate PI3K/AKT signaling.
High TTPAL expression is associated with Colorectal Tumorigenesis.
Title: TTPAL Promotes Colorectal Tumorigenesis by Stabilizing TRIP6 to Activate Wnt/β-Catenin Signaling.

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

D8S2279 (e-PCR)
- UniSTS:473907

WI-15802 (e-PCR)
- UniSTS:21334

L18426 (e-PCR)
- UniSTS:34648

A007K47 (e-PCR)
- UniSTS:62855

STS-AA010225 (e-PCR)
- UniSTS:12182

AL023483 (e-PCR)
- UniSTS:72892

RH16183 (e-PCR)
- UniSTS:74735

WIAF-1481 (e-PCR)
- UniSTS:21497

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: alpha-tocopherol transfer protein-like

Names: tocopherol (alpha) transfer protein-like

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_001039199.3 → NP_001034288.1 alpha-tocopherol transfer protein-like isoform 1

See identical proteins and their annotated locations for NP_001034288.1

Status: VALIDATED

Description

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

Source sequence(s)

AK314045, AL132772, BP351602, Z97053

Consensus CDS

CCDS13332.2

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1

Related

ENSP00000262605.4, ENST00000262605.9

Conserved Domains (2) summary

smart01100
Location:56 → 102

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

cd00170
Location:121 → 277

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
NM_001261839.2 → NP_001248768.1 alpha-tocopherol transfer protein-like isoform 2

See identical proteins and their annotated locations for NP_001248768.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 1, which results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AL132772, BP351602, BQ646722, Z97053

UniProtKB/TrEMBL

Q5QPC2

Related

ENSP00000412720.1, ENST00000456317.1

Conserved Domains (2) summary

smart01100
Location:56 → 102

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

cd00170
Location:121 → 243

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
NM_024331.5 → NP_077307.2 alpha-tocopherol transfer protein-like isoform 1

See identical proteins and their annotated locations for NP_077307.2

Status: VALIDATED

Description

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

Source sequence(s)

AL132772, BC003071, BP351602, Z97053

Consensus CDS

CCDS13332.2

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1

Related

ENSP00000361995.3, ENST00000372904.7

Conserved Domains (2) summary

smart01100
Location:56 → 102

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

cd00170
Location:121 → 277

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

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_000020.11 Reference GRCh38.p14 Primary Assembly

Range

44475874..44494603

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440481.1 → XP_047296437.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_047440482.1 → XP_047296438.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_047440487.1 → XP_047296443.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2
XM_011529044.4 → XP_011527346.1 alpha-tocopherol transfer protein-like isoform X1

See identical proteins and their annotated locations for XP_011527346.1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1

Conserved Domains (2) summary

smart01100
Location:56 → 102

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

cd00170
Location:121 → 277

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
XM_047440490.1 → XP_047296446.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2
XM_047440484.1 → XP_047296440.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_047440489.1 → XP_047296445.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2
XM_011529043.4 → XP_011527345.1 alpha-tocopherol transfer protein-like isoform X1

See identical proteins and their annotated locations for XP_011527345.1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1

Conserved Domains (2) summary

smart01100
Location:56 → 102

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

cd00170
Location:121 → 277

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
XM_047440488.1 → XP_047296444.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2
XM_047440483.1 → XP_047296439.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_047440493.1 → XP_047296449.1 alpha-tocopherol transfer protein-like isoform X3

UniProtKB/TrEMBL

Q5CZA1
XM_047440492.1 → XP_047296448.1 alpha-tocopherol transfer protein-like isoform X3

UniProtKB/TrEMBL

Q5CZA1
XM_017028063.3 → XP_016883552.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2

Conserved Domains (2) summary

smart01100
Location:56 → 102

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

cd00170
Location:121 → 243

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
XM_047440485.1 → XP_047296441.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_047440494.1 → XP_047296450.1 alpha-tocopherol transfer protein-like isoform X3

UniProtKB/TrEMBL

Q5CZA1
XM_024452000.2 → XP_024307768.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2

Conserved Domains (2) summary

smart01100
Location:56 → 102

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

cd00170
Location:121 → 243

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
XM_011529045.4 → XP_011527347.1 alpha-tocopherol transfer protein-like isoform X3

UniProtKB/TrEMBL

Q5CZA1

Conserved Domains (2) summary

smart01100
Location:56 → 102

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

cd00170
Location:121 → 240

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
XM_024452001.2 → XP_024307769.1 alpha-tocopherol transfer protein-like isoform X4

Conserved Domains (1) summary

smart01100
Location:56 → 102

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
XM_047440491.1 → XP_047296447.1 alpha-tocopherol transfer protein-like isoform X3

UniProtKB/TrEMBL

Q5CZA1
XM_047440486.1 → XP_047296442.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

46211640..46230370

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323994.1 → XP_054179969.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_054323996.1 → XP_054179971.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_054323995.1 → XP_054179970.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_054324002.1 → XP_054179977.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2
XM_054323993.1 → XP_054179968.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_054324001.1 → XP_054179976.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2
XM_054323998.1 → XP_054179973.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_054324007.1 → XP_054179982.1 alpha-tocopherol transfer protein-like isoform X3

UniProtKB/TrEMBL

Q5CZA1
XM_054324008.1 → XP_054179983.1 alpha-tocopherol transfer protein-like isoform X3

UniProtKB/TrEMBL

Q5CZA1
XM_054324000.1 → XP_054179975.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2
XM_054323997.1 → XP_054179972.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_054324009.1 → XP_054179984.1 alpha-tocopherol transfer protein-like isoform X3

UniProtKB/TrEMBL

Q5CZA1
XM_054324004.1 → XP_054179979.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2
XM_054324005.1 → XP_054179980.1 alpha-tocopherol transfer protein-like isoform X3

UniProtKB/TrEMBL

Q5CZA1
XM_054323992.1 → XP_054179967.1 alpha-tocopherol transfer protein-like isoform X1

UniProtKB/Swiss-Prot

E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

UniProtKB/TrEMBL

Q5CZA1
XM_054323999.1 → XP_054179974.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2
XM_054324003.1 → XP_054179978.1 alpha-tocopherol transfer protein-like isoform X2

UniProtKB/TrEMBL

Q5QPC2
XM_054324010.1 → XP_054179985.1 alpha-tocopherol transfer protein-like isoform X4
XM_054324006.1 → XP_054179981.1 alpha-tocopherol transfer protein-like isoform X3

UniProtKB/TrEMBL

Q5CZA1