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TPK1 thiamin pyrophosphokinase 1 [ Homo sapiens (human) ]

Gene ID: 27010, updated on 29-Mar-2020

Summary

Official Symbol
TPK1provided by HGNC
Official Full Name
thiamin pyrophosphokinase 1provided by HGNC
Primary source
HGNC:HGNC:17358
See related
Ensembl:ENSG00000196511 MIM:606370
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
PP20; HTPK1; THMD5
Summary
The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]
Expression
Ubiquitous expression in duodenum (RPKM 1.3), testis (RPKM 0.7) and 24 other tissues See more
Orthologs

Genomic context

See TPK1 in Genome Data Viewer
Location:
7q35
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (144451941..144836424, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (144149034..144533488, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6atac small nuclear 40, pseudogene Neighboring gene peptidylprolyl isomerase A pseudogene 83 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 10 Neighboring gene RN7SK pseudogene 174 Neighboring gene uncharacterized LOC105375552

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of thiamin pyrophosphokinase 1 (TPK1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of thiamin pyrophosphokinase 1 (TPK1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase activity IEA
Inferred from Electronic Annotation
more info
 
thiamine binding IEA
Inferred from Electronic Annotation
more info
 
thiamine diphosphokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
thiamine diphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiamine diphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
thiamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
thiamine-containing compound metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
thiamin pyrophosphokinase 1
Names
placental protein 20
thiamine diphosphokinase
thiamine kinase
NP_001035947.1
NP_001337808.1
NP_001337809.1
NP_001337810.1
NP_001337811.1
NP_001337812.1
NP_001337813.1
NP_001337814.1
NP_001337815.1
NP_001337816.1
NP_001337818.1
NP_001337822.1
NP_001337823.1
NP_001337824.1
NP_071890.2
XP_005250027.1
XP_011514333.1
XP_011514334.1
XP_011514335.1
XP_011514336.1
XP_011514337.1
XP_011514339.1
XP_011514341.1
XP_011514342.1
XP_011514345.1
XP_011514348.1
XP_011514349.1
XP_011514350.1
XP_016867458.1
XP_016867459.1
XP_016867460.1
XP_016867461.1
XP_016867463.1
XP_016867464.1
XP_016867469.1
XP_016867470.1
XP_016867471.1
XP_024302483.1
XP_024302484.1
XP_024302485.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_032112.2 RefSeqGene

    Range
    5001..389113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042482.1NP_001035947.1  thiamin pyrophosphokinase 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a. Variants 2 and 4 both encode the same isoform (b).
    Source sequence(s)
    AC004534, BC040555, BI770816, BX446289, DA135998
    Consensus CDS
    CCDS55178.1
    UniProtKB/Swiss-Prot
    Q9H3S4
    UniProtKB/TrEMBL
    F5GZG6
    Related
    ENSP00000367339.3, ENST00000378099.7
    Conserved Domains (1) summary
    cl27179
    Location:21192
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  2. NM_001350879.1NP_001337808.1  thiamin pyrophosphokinase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variant 1, encodes the longest isoform (a).
    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Consensus CDS
    CCDS5888.1
    Conserved Domains (1) summary
    cl27179
    Location:21241
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  3. NM_001350880.1NP_001337809.1  thiamin pyrophosphokinase 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variant 2, encodes isoform b. Variants 2 and 4 both encode the same isoform (b).
    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Consensus CDS
    CCDS55178.1
    Conserved Domains (1) summary
    cl27179
    Location:21192
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  4. NM_001350881.1NP_001337810.1  thiamin pyrophosphokinase 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Conserved Domains (1) summary
    cl27179
    Location:21204
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  5. NM_001350882.1NP_001337811.1  thiamin pyrophosphokinase 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 7 and 8, encodes isoform d.
    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Conserved Domains (1) summary
    cl27179
    Location:58236
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  6. NM_001350883.1NP_001337812.1  thiamin pyrophosphokinase 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 6 and 8, encodes isoform d.
    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Conserved Domains (1) summary
    cl27179
    Location:58236
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  7. NM_001350884.2NP_001337813.1  thiamin pyrophosphokinase 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 6 and 7, encodes isoform d.
    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864
    Conserved Domains (1) summary
    cl27179
    Location:58236
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  8. NM_001350885.1NP_001337814.1  thiamin pyrophosphokinase 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 10, 11, 12, 13, and 14, encodes isoform e.
    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Conserved Domains (1) summary
    cl27179
    Location:16135
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  9. NM_001350886.1NP_001337815.1  thiamin pyrophosphokinase 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 9, 11, 12, 13, and 14, encodes isoform e.
    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Conserved Domains (1) summary
    cl27179
    Location:16135
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  10. NM_001350887.1NP_001337816.1  thiamin pyrophosphokinase 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 9, 10, 12, 13, and 14, encodes isoform e.
    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Conserved Domains (1) summary
    cl27179
    Location:16135
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  11. NM_001350889.1NP_001337818.1  thiamin pyrophosphokinase 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 9, 10, 11, 13, and 14, encodes isoform e.
    Source sequence(s)
    AC004534, AC004743, AC004864, AC074384
    Conserved Domains (1) summary
    cl27179
    Location:16135
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  12. NM_001350893.1NP_001337822.1  thiamin pyrophosphokinase 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 9, 10, 11, 12, and 14, encodes isoform e.
    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Conserved Domains (1) summary
    cl27179
    Location:16135
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  13. NM_001350894.1NP_001337823.1  thiamin pyrophosphokinase 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 9, 10, 11, 12, and 13, encodes isoform e.
    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Conserved Domains (1) summary
    cl27179
    Location:16135
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  14. NM_001350895.1NP_001337824.1  thiamin pyrophosphokinase 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
    Conserved Domains (1) summary
    cl27179
    Location:5124
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  15. NM_022445.4NP_071890.2  thiamin pyrophosphokinase 1 isoform a

    See identical proteins and their annotated locations for NP_071890.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 3 both encode the same isoform (a).
    Source sequence(s)
    AF297710, BC040555, DA135998
    Consensus CDS
    CCDS5888.1
    UniProtKB/Swiss-Prot
    Q9H3S4
    UniProtKB/TrEMBL
    A0A090N8Y0
    Related
    ENSP00000353165.3, ENST00000360057.7
    Conserved Domains (1) summary
    cl27179
    Location:21241
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain

RNA

  1. NR_146934.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
  2. NR_146935.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864, AC074384
  3. NR_146936.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004534, AC004743, AC004833, AC004864
    Related
    ENST00000482940.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    144451941..144836424 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516033.2XP_011514335.1  thiamin pyrophosphokinase 1 isoform X1

    See identical proteins and their annotated locations for XP_011514335.1

    Conserved Domains (2) summary
    cd07995
    Location:20265
    TPK; Thiamine pyrophosphokinase
    PLN02714
    Location:21267
    PLN02714; thiamin pyrophosphokinase
  2. XM_005249970.1XP_005250027.1  thiamin pyrophosphokinase 1 isoform X6

    See identical proteins and their annotated locations for XP_005250027.1

    UniProtKB/Swiss-Prot
    Q9H3S4
    UniProtKB/TrEMBL
    A0A090N8Y0
    Conserved Domains (1) summary
    cl27179
    Location:21241
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  3. XM_011516034.2XP_011514336.1  thiamin pyrophosphokinase 1 isoform X1

    See identical proteins and their annotated locations for XP_011514336.1

    Conserved Domains (2) summary
    cd07995
    Location:20265
    TPK; Thiamine pyrophosphokinase
    PLN02714
    Location:21267
    PLN02714; thiamin pyrophosphokinase
  4. XM_024446716.1XP_024302484.1  thiamin pyrophosphokinase 1 isoform X14

    Conserved Domains (1) summary
    cl27179
    Location:5124
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  5. XM_011516043.1XP_011514345.1  thiamin pyrophosphokinase 1 isoform X9

    Conserved Domains (2) summary
    cd07995
    Location:20216
    TPK; Thiamine pyrophosphokinase
    PLN02714
    Location:21218
    PLN02714; thiamin pyrophosphokinase
  6. XM_011516031.1XP_011514333.1  thiamin pyrophosphokinase 1 isoform X1

    See identical proteins and their annotated locations for XP_011514333.1

    Conserved Domains (2) summary
    cd07995
    Location:20265
    TPK; Thiamine pyrophosphokinase
    PLN02714
    Location:21267
    PLN02714; thiamin pyrophosphokinase
  7. XM_011516032.2XP_011514334.1  thiamin pyrophosphokinase 1 isoform X1

    See identical proteins and their annotated locations for XP_011514334.1

    Conserved Domains (2) summary
    cd07995
    Location:20265
    TPK; Thiamine pyrophosphokinase
    PLN02714
    Location:21267
    PLN02714; thiamin pyrophosphokinase
  8. XM_024446717.1XP_024302485.1  thiamin pyrophosphokinase 1 isoform X13

    Conserved Domains (1) summary
    cl27179
    Location:16135
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  9. XM_024446715.1XP_024302483.1  thiamin pyrophosphokinase 1 isoform X10

    Related
    ENSP00000438813.2, ENST00000538212.6
  10. XM_017011970.1XP_016867459.1  thiamin pyrophosphokinase 1 isoform X4

    Conserved Domains (2) summary
    cd07995
    Location:58260
    TPK; Thiamine pyrophosphokinase
    TIGR01378
    Location:19260
    thi_PPkinase; thiamine pyrophosphokinase
  11. XM_017011974.1XP_016867463.1  thiamin pyrophosphokinase 1 isoform X7

    Conserved Domains (1) summary
    cd07995
    Location:33239
    TPK; Thiamine pyrophosphokinase
  12. XM_011516037.2XP_011514339.1  thiamin pyrophosphokinase 1 isoform X4

    See identical proteins and their annotated locations for XP_011514339.1

    Conserved Domains (2) summary
    cd07995
    Location:58260
    TPK; Thiamine pyrophosphokinase
    TIGR01378
    Location:19260
    thi_PPkinase; thiamine pyrophosphokinase
  13. XM_011516039.2XP_011514341.1  thiamin pyrophosphokinase 1 isoform X7

    Conserved Domains (1) summary
    cd07995
    Location:33239
    TPK; Thiamine pyrophosphokinase
  14. XM_017011982.1XP_016867471.1  thiamin pyrophosphokinase 1 isoform X13

    UniProtKB/Swiss-Prot
    Q9H3S4
    Conserved Domains (1) summary
    cl27179
    Location:16135
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  15. XM_017011975.1XP_016867464.1  thiamin pyrophosphokinase 1 isoform X7

    Conserved Domains (1) summary
    cd07995
    Location:33239
    TPK; Thiamine pyrophosphokinase
  16. XM_017011971.1XP_016867460.1  thiamin pyrophosphokinase 1 isoform X4

    Conserved Domains (2) summary
    cd07995
    Location:58260
    TPK; Thiamine pyrophosphokinase
    TIGR01378
    Location:19260
    thi_PPkinase; thiamine pyrophosphokinase
  17. XM_011516047.2XP_011514349.1  thiamin pyrophosphokinase 1 isoform X13

    See identical proteins and their annotated locations for XP_011514349.1

    UniProtKB/Swiss-Prot
    Q9H3S4
    Conserved Domains (1) summary
    cl27179
    Location:16135
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  18. XM_011516048.1XP_011514350.1  thiamin pyrophosphokinase 1 isoform X13

    See identical proteins and their annotated locations for XP_011514350.1

    UniProtKB/Swiss-Prot
    Q9H3S4
    Conserved Domains (1) summary
    cl27179
    Location:16135
    TPK_B1_binding; Thiamin pyrophosphokinase, vitamin B1 binding domain
  19. XM_017011980.2XP_016867469.1  thiamin pyrophosphokinase 1 isoform X11

    Conserved Domains (1) summary
    cd07995
    Location:2159
    TPK; Thiamine pyrophosphokinase
  20. XM_017011981.2XP_016867470.1  thiamin pyrophosphokinase 1 isoform X11

    Conserved Domains (1) summary
    cd07995
    Location:2159
    TPK; Thiamine pyrophosphokinase
  21. XM_011516035.3XP_011514337.1  thiamin pyrophosphokinase 1 isoform X3

    Conserved Domains (2) summary
    cd07995
    Location:20230
    TPK; Thiamine pyrophosphokinase
    TIGR01378
    Location:21247
    thi_PPkinase; thiamine pyrophosphokinase
  22. XM_017011972.1XP_016867461.1  thiamin pyrophosphokinase 1 isoform X5

  23. XM_017011969.1XP_016867458.1  thiamin pyrophosphokinase 1 isoform X2

  24. XM_011516040.2XP_011514342.1  thiamin pyrophosphokinase 1 isoform X8

    Conserved Domains (1) summary
    cd07995
    Location:20230
    TPK; Thiamine pyrophosphokinase
  25. XM_011516046.1XP_011514348.1  thiamin pyrophosphokinase 1 isoform X12

    Related
    ENSP00000367338.4, ENST00000378098.8
    Conserved Domains (1) summary
    pfam04263
    Location:30137
    TPK_catalytic; Thiamin pyrophosphokinase, catalytic domain

RNA

  1. XR_001744630.1 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654715.1 Reference GRCh38.p13 PATCHES

    Range
    501398..674070 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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