Format

Send to:

Choose Destination

PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase [ Homo sapiens (human) ]

Gene ID: 85007, updated on 7-Jun-2020

Summary

Official Symbol
PHYKPLprovided by HGNC
Official Full Name
5-phosphohydroxy-L-lysine phospho-lyaseprovided by HGNC
Primary source
HGNC:HGNC:28249
See related
Ensembl:ENSG00000175309 MIM:614683
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
PHLU; AGXT2L2
Summary
This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression
Ubiquitous expression in small intestine (RPKM 10.2), spleen (RPKM 9.1) and 25 other tissues See more
Orthologs

Genomic context

See PHYKPL in Genome Data Viewer
Location:
5q35.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (178207144..178232822, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (177635475..177659823, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NAD(P)HX epimerase pseudogene Neighboring gene germ cell-less 2, spermatogenesis associated Neighboring gene heterogeneous nuclear ribonucleoprotein A/B Neighboring gene uncharacterized LOC112267937 Neighboring gene collagen type XXIII alpha 1 chain Neighboring gene mitochondrial ribosomal protein L50 pseudogene 3

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00272, MGC15875, MGC45484, MGC117348

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lyase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
transaminase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
collagen catabolic process TAS
Traceable Author Statement
more info
 
lysine catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
5-phosphohydroxy-L-lysine phospho-lyase
Names
5-phosphonooxy-L-lysine phospho-lyase
alanine--glyoxylate aminotransferase 2-like 2
NP_001265275.1
NP_699204.1
XP_006714988.1
XP_011532971.1
XP_011532972.1
XP_011532973.1
XP_011532974.1
XP_011532976.1
XP_016865484.1
XP_016865487.1
XP_016865488.1
XP_024302008.1
XP_024302009.1
XP_024302010.1
XP_024302011.1
XP_024302012.1
XP_024302013.1
XP_024302014.1
XP_024302015.1
XP_024302016.1
XP_024302017.1
XP_024302018.1
XP_024302019.1
XP_024302020.1

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_033253.2 RefSeqGene

    Range
    5021..29352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278346.1NP_001265275.1  5-phosphohydroxy-L-lysine phospho-lyase isoform 3

    See identical proteins and their annotated locations for NP_001265275.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site at the 5' exon and initiates translation at a downstream in-frame start codon, compared to variant 2. The encoded isoform (3) has a shorter N-terminus, compared to isoform 2.
    Source sequence(s)
    AK292061, BC028002, BC037238, BC037567, BX417194, HY267487
    UniProtKB/Swiss-Prot
    Q8IUZ5
    Related
    ENST00000489262.5
    Conserved Domains (2) summary
    cd00610
    Location:1392
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
    TIGR00707
    Location:1392
    argD; transaminase, acetylornithine/succinylornithine family
  2. NM_153373.4NP_699204.1  5-phosphohydroxy-L-lysine phospho-lyase isoform 2

    See identical proteins and their annotated locations for NP_699204.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longer isoform (2).
    Source sequence(s)
    AC136632, AK292061, BC037567, BX417194, HY267487
    Consensus CDS
    CCDS4434.1
    UniProtKB/Swiss-Prot
    Q8IUZ5
    Related
    ENSP00000310978.5, ENST00000308158.10
    Conserved Domains (1) summary
    cl28400
    Location:1433
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]

RNA

  1. NR_103508.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains multiple differences compared to variant 2, including the lack of multiple internal exons. This variant is represented as non-coding because the use of the translational start codon used in variant 2 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK292061, BC008009, BX417194, HY267487
    Related
    ENST00000474052.5
  2. NR_103509.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site at the 5' exon and lacks multiple internal exons, compared to variant 2. This variant is represented as non-coding because the use of the translational start codon used in variant 2 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC028002, BC037238, BX417194, HY267487
    Related
    ENST00000494126.6
  3. NR_103510.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains two alternate internal exons, compared to variant 2. This variant is represented as non-coding because the use of the translational start codon used in variant 2 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC039012, BX417194, HY267487
    Related
    ENST00000493197.5

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    178207144..178232822 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534674.2XP_011532976.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X9

    Conserved Domains (2) summary
    COG0160
    Location:7330
    GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]
    cl18945
    Location:30328
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  2. XM_024446240.1XP_024302008.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X7

    Conserved Domains (1) summary
    cl28400
    Location:1352
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  3. XM_011534671.2XP_011532973.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X3

    Conserved Domains (2) summary
    cd00610
    Location:30439
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
    COG0160
    Location:7441
    GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]
  4. XM_011534669.2XP_011532971.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X1

    Conserved Domains (2) summary
    cd00610
    Location:30443
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
    COG0160
    Location:7445
    GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]
  5. XM_006714925.2XP_006714988.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X6

    Conserved Domains (2) summary
    cd00610
    Location:30391
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
    COG0160
    Location:7393
    GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]
  6. XM_024446249.1XP_024302017.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X17

    Conserved Domains (1) summary
    cl28400
    Location:9235
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  7. XM_024446245.1XP_024302013.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X14

    Conserved Domains (1) summary
    cl28400
    Location:9245
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  8. XM_024446243.1XP_024302011.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X12

    Conserved Domains (1) summary
    cl28400
    Location:2257
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  9. XM_024446250.1XP_024302018.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X17

    Conserved Domains (1) summary
    cl28400
    Location:9235
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  10. XM_024446242.1XP_024302010.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X11

    Conserved Domains (1) summary
    cl28400
    Location:22301
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  11. XM_024446248.1XP_024302016.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X16

    Conserved Domains (1) summary
    cl28400
    Location:12238
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  12. XM_011534670.3XP_011532972.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X2

    Conserved Domains (1) summary
    cd00610
    Location:59442
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
  13. XM_017009998.2XP_016865487.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X8

  14. XM_017009999.2XP_016865488.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X12

    Conserved Domains (1) summary
    cl28400
    Location:2257
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  15. XM_011534672.2XP_011532974.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X5

    Conserved Domains (2) summary
    cd00610
    Location:1402
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
    TIGR00707
    Location:1402
    argD; transaminase, acetylornithine/succinylornithine family
  16. XM_024446246.1XP_024302014.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X15

    Conserved Domains (1) summary
    cl28400
    Location:58244
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  17. XM_024446247.1XP_024302015.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X15

    Conserved Domains (1) summary
    cl28400
    Location:58244
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  18. XM_024446244.1XP_024302012.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X13

    Conserved Domains (1) summary
    cl28400
    Location:2247
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  19. XM_017009995.1XP_016865484.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X4

  20. XM_024446241.1XP_024302009.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X10

    Conserved Domains (1) summary
    cl28400
    Location:1319
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  21. XM_024446252.1XP_024302020.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X19

    Conserved Domains (1) summary
    cl28400
    Location:1232
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]
  22. XM_024446251.1XP_024302019.1  5-phosphohydroxy-L-lysine phospho-lyase isoform X18

    Conserved Domains (1) summary
    cl28400
    Location:1206
    HemL; Glutamate-1-semialdehyde aminotransferase [Coenzyme transport and metabolism]

RNA

  1. XR_002956191.1 RNA Sequence

  2. XR_002956187.1 RNA Sequence

  3. XR_002956194.1 RNA Sequence

  4. XR_002956188.1 RNA Sequence

  5. XR_002956186.1 RNA Sequence

  6. XR_002956189.1 RNA Sequence

  7. XR_002956193.1 RNA Sequence

  8. XR_002956192.1 RNA Sequence

  9. XR_002956190.1 RNA Sequence

  10. XR_002956196.1 RNA Sequence

  11. XR_002956195.1 RNA Sequence

Support Center