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

Gene ID: 79183, updated on 3-Apr-2024

Summary

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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, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 4.7), thyroid (RPKM 4.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
20q13.12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44475874..44494603)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46211640..46230370)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43104514..43123244)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1620 Neighboring gene ribosomal protein L37a pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17925 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:43124829-43126028 Neighboring gene serine incorporator 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43149922-43150474 Neighboring gene Sharpr-MPRA regulatory region 7879 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:43152936-43153812 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43154689-43155564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43160105-43160605 Neighboring gene cAMP-dependent protein kinase inhibitor gamma Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43226219-43226966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43229479-43229980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43237694-43238268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17933 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:43246415-43247142

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. TTPAL promotes gastric tumorigenesis by directly targeting NNMT to activate PI3K/AKT signaling. Liu W, et al. Oncogene, 2021 Dec. PMID 34642500, Free PMC Article
  2. TTPAL Promotes Colorectal Tumorigenesis by Stabilizing TRIP6 to Activate Wnt/β-Catenin Signaling. Gou H, et al. Cancer Res, 2019 Jul 1. PMID 31018940
  3. Investigation of the expression levels of CDH1, FHIT, PTEN, and TTPAL genes in colorectal tumors. Arıkan Söylemez ESS, et al. Turk J Med Sci, 2022 Feb. PMID 36161592, Free PMC Article
  4. An investigation into the human serum "interactome". Zhou M, et al. Electrophoresis, 2004 May. PMID 15174051
  5. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC2470, DKFZp686E0870

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 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)

  1. 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 ...

  2. 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 ...

  3. 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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    44475874..44494603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

  4. 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 ...

  5. XM_047440490.1 → XP_047296446.1  alpha-tocopherol transfer protein-like isoform X2

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

  8. 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 ...

  9. XM_047440488.1 → XP_047296444.1  alpha-tocopherol transfer protein-like isoform X2

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

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

  13. 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 ...

  14. XM_047440485.1 → XP_047296441.1  alpha-tocopherol transfer protein-like isoform X1

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

  16. 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 ...

  17. 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 ...

  18. 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

  19. XM_047440491.1 → XP_047296447.1  alpha-tocopherol transfer protein-like isoform X3

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    46211640..46230370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

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

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

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

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

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

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

    UniProtKB/Swiss-Prot
    E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

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

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

  18. XM_054324010.1 → XP_054179985.1  alpha-tocopherol transfer protein-like isoform X4

  19. XM_054324006.1 → XP_054179981.1  alpha-tocopherol transfer protein-like isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BTX7.2 GenPept UniProtKB/Swiss-Prot:Q9BTX7

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