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    PPHLN1 periphilin 1 [ Homo sapiens (human) ]

    Gene ID: 51535, updated on 14-Nov-2024

    Summary

    Official Symbol
    PPHLN1provided by HGNC
    Official Full Name
    periphilin 1provided by HGNC
    Primary source
    HGNC:HGNC:19369
    See related
    Ensembl:ENSG00000134283 MIM:608150; AllianceGenome:HGNC:19369
    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
    CR; HSPC206; HSPC232
    Summary
    The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.4), testis (RPKM 6.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PPHLN1 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (42326167..42448621)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (42284102..42406479)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (42719969..42842423)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6211 Neighboring gene zinc finger CCHC-type and RNA binding motif containing 1 Neighboring gene microRNA 7851 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:42742996-42743992 Neighboring gene RNA, U6 small nuclear 249, pseudogene Neighboring gene FMR1 autosomal homolog 1 pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:42858567-42859766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6214 Neighboring gene prickle planar cell polarity protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6215 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:42875079-42875690 Neighboring gene MPRA-validated peak1687 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4366 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:42877741-42878649 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:42879439-42880178 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:42904440-42905187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:42946987-42947486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:42984271-42984828 Neighboring gene NANOG hESC enhancer GRCh37_chr12:42996970-42997470 Neighboring gene NANOG hESC enhancer GRCh37_chr12:42997471-42997971 Neighboring gene MPRA-validated peak1688 silencer Neighboring gene long intergenic non-protein coding RNA 2402 Neighboring gene CDGSH iron sulfur domain 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC48786

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    periphilin-1
    Names
    CDC7 expression repressor
    gastric cancer antigen Ga50

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001143787.2NP_001137259.1  periphilin-1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is shorter compared to isoform 1.z
      Source sequence(s)
      AC079601, AK129910, BC025306
      Consensus CDS
      CCDS44860.1
      UniProtKB/TrEMBL
      B7Z695
      Related
      ENSP00000393965.2, ENST00000432191.6
      Conserved Domains (2) summary
      pfam11488
      Location:224284
      Lge1; Transcriptional regulatory protein LGE1
      pfam15695
      Location:385420
      HERV-K_REC; Rec (regulator of expression encoded by corf) of HERV-K-113
    2. NM_001143788.2NP_001137260.1  periphilin-1 isoform 7

      See identical proteins and their annotated locations for NP_001137260.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate in-frame exon and has multiple differences in the 3' region when compared to variant 1. The resulting isoform (7) has a distinct and shorter C-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AC079601, AK308022, AY039238, BM995486, CA444170
      Consensus CDS
      CCDS44861.1
      UniProtKB/TrEMBL
      F8W0Q9
      Related
      ENSP00000390681.2, ENST00000449194.6
      Conserved Domains (1) summary
      pfam11488
      Location:260332
      Lge1; Transcriptional regulatory protein LGE1
    3. NM_001143789.2NP_001137261.1  periphilin-1 isoform 8

      See identical proteins and their annotated locations for NP_001137261.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks two alternate in-frame exons and has multiple differences in the 3' region when compared to variant 1. The resulting isoform (8) has a distinct and shorter C-terminus and lacks two internal segments compared to isoform 1.
      Source sequence(s)
      AC079601, AK129910, AK308022, BM995486, CA444170, DC424443
      UniProtKB/TrEMBL
      F8WF16
      Conserved Domains (1) summary
      pfam11488
      Location:205277
      Lge1; Transcriptional regulatory protein LGE1
    4. NM_001364822.2NP_001351751.1  periphilin-1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
      UniProtKB/TrEMBL
      F8W0Q9
      Conserved Domains (1) summary
      pfam11488
      Location:267339
      Lge1; Transcriptional regulatory protein LGE1
    5. NM_001364823.2NP_001351752.1  periphilin-1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
      UniProtKB/TrEMBL
      B7Z695
      Conserved Domains (2) summary
      pfam15695
      Location:392427
      HERV-K_REC; Rec (regulator of expression encoded by corf) of HERV-K-113
      pfam11488
      Location:231291
      Lge1; Transcriptional regulatory protein LGE1
    6. NM_001364824.2NP_001351753.1  periphilin-1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
      UniProtKB/TrEMBL
      F8W0Q9
      Conserved Domains (1) summary
      pfam11488
      Location:223298
      Lge1; Transcriptional regulatory protein LGE1
    7. NM_001364825.2NP_001351754.1  periphilin-1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
      UniProtKB/TrEMBL
      B7Z695
      Conserved Domains (2) summary
      pfam15695
      Location:360395
      HERV-K_REC; Rec (regulator of expression encoded by corf) of HERV-K-113
      pfam11488
      Location:205265
      Lge1; Transcriptional regulatory protein LGE1
    8. NM_001364826.2NP_001351755.1  periphilin-1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
      Consensus CDS
      CCDS91684.1
      UniProtKB/TrEMBL
      B7Z8M9, F8W6A0
      Related
      ENSP00000256678.8, ENST00000256678.12
      Conserved Domains (2) summary
      pfam15695
      Location:314349
      HERV-K_REC; Rec (regulator of expression encoded by corf) of HERV-K-113
      pfam11488
      Location:159219
      Lge1; Transcriptional regulatory protein LGE1
    9. NM_001364827.2NP_001351756.1  periphilin-1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
      UniProtKB/TrEMBL
      B7Z695
      Conserved Domains (2) summary
      pfam15695
      Location:421456
      HERV-K_REC; Rec (regulator of expression encoded by corf) of HERV-K-113
      pfam11488
      Location:260320
      Lge1; Transcriptional regulatory protein LGE1
    10. NM_001364828.2NP_001351757.1  periphilin-1 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
    11. NM_001364829.2NP_001351758.1  periphilin-1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
      UniProtKB/TrEMBL
      B7Z695
      Conserved Domains (2) summary
      pfam15695
      Location:366401
      HERV-K_REC; Rec (regulator of expression encoded by corf) of HERV-K-113
      pfam11488
      Location:205265
      Lge1; Transcriptional regulatory protein LGE1
    12. NM_001364830.2NP_001351759.1  periphilin-1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
    13. NM_001364831.2NP_001351760.1  periphilin-1 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
      UniProtKB/TrEMBL
      B7Z695
      Conserved Domains (2) summary
      pfam15695
      Location:373408
      HERV-K_REC; Rec (regulator of expression encoded by corf) of HERV-K-113
      pfam11488
      Location:212272
      Lge1; Transcriptional regulatory protein LGE1
    14. NM_001364832.2NP_001351761.1  periphilin-1 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
      UniProtKB/TrEMBL
      F8WF16
      Related
      ENSP00000322048.9, ENST00000317560.13
      Conserved Domains (1) summary
      pfam11488
      Location:212284
      Lge1; Transcriptional regulatory protein LGE1
    15. NM_001364833.2NP_001351762.1  periphilin-1 isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
    16. NM_001364834.2NP_001351763.1  periphilin-1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC079601, AC079684
      UniProtKB/TrEMBL
      F8W0Q9
      Conserved Domains (1) summary
      pfam11488
      Location:267339
      Lge1; Transcriptional regulatory protein LGE1
    17. NM_016488.7NP_057572.5  periphilin-1 isoform 1

      See identical proteins and their annotated locations for NP_057572.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC079601, AY039238
      Consensus CDS
      CCDS31777.1
      UniProtKB/Swiss-Prot
      E9PAX8, Q86YT2, Q8IXN3, Q8NEY8, Q8TB09, Q96NB9, Q9NXL4, Q9P0P6, Q9P0R9
      UniProtKB/TrEMBL
      B7Z695
      Related
      ENSP00000378935.2, ENST00000395568.6
      Conserved Domains (2) summary
      pfam11488
      Location:279339
      Lge1; Transcriptional regulatory protein LGE1
      pfam15695
      Location:409444
      HERV-K_REC; Rec (regulator of expression encoded by corf) of HERV-K-113
    18. NM_201438.2NP_958846.1  periphilin-1 isoform 5

      See identical proteins and their annotated locations for NP_958846.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences compared to variant 1. The resulting isoform (5) has distinct N- and C-termini, as compared to isoform 1.
      Source sequence(s)
      AC079601, AK129910, BC039832
      UniProtKB/Swiss-Prot
      Q8NEY8
    19. NM_201439.2NP_958847.1  periphilin-1 isoform 3

      See identical proteins and their annotated locations for NP_958847.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the 3' region compared to variant 1. The resulting isoform (3) has a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC079601, AK129910, AY157850, CA444170, CF242917
      Consensus CDS
      CCDS8741.1
      UniProtKB/TrEMBL
      F8W0Q9
      Related
      ENSP00000351066.7, ENST00000358314.12
      Conserved Domains (1) summary
      pfam11488
      Location:279351
      Lge1; Transcriptional regulatory protein LGE1
    20. NM_201440.2NP_958848.1  periphilin-1 isoform 4

      See identical proteins and their annotated locations for NP_958848.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences compared to variant 1. The resulting isoform (4) has distinct N- and C-termini, as compared to isoform 1.
      Source sequence(s)
      AC079601, AK129910, AY157850, CA444170
      Consensus CDS
      CCDS55817.1
      UniProtKB/TrEMBL
      F8W0Q9
      Related
      ENSP00000449331.1, ENST00000552761.5
      Conserved Domains (1) summary
      pfam11488
      Location:231303
      Lge1; Transcriptional regulatory protein LGE1
    21. NM_201515.2NP_958923.1  periphilin-1 isoform 2

      See identical proteins and their annotated locations for NP_958923.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 5' region and has multiple differences in the 3' region when compared to variant 1. The resulting isoform (2) has a longer N-terminus and a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC079601, AK129910, CA444170
      Consensus CDS
      CCDS41773.1
      UniProtKB/TrEMBL
      F8W0Q9
      Related
      ENSP00000378947.3, ENST00000395580.7
      Conserved Domains (1) summary
      pfam11488
      Location:286358
      Lge1; Transcriptional regulatory protein LGE1

    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

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      42326167..42448621
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019434.2XP_016874923.1  periphilin-1 isoform X1

    2. XM_011538459.2XP_011536761.1  periphilin-1 isoform X4

      See identical proteins and their annotated locations for XP_011536761.1

      UniProtKB/TrEMBL
      B7Z695
      Conserved Domains (2) summary
      pfam11488
      Location:286346
      Lge1; Transcriptional regulatory protein LGE1
      pfam15695
      Location:447482
      HERV-K_REC; Rec (regulator of expression encoded by corf) of HERV-K-113
    3. XM_017019436.2XP_016874925.1  periphilin-1 isoform X2

      UniProtKB/TrEMBL
      B7Z695
    4. XM_017019439.1XP_016874928.1  periphilin-1 isoform X5

      UniProtKB/TrEMBL
      B7Z695
    5. XM_047428972.1XP_047284928.1  periphilin-1 isoform X8

    6. XM_047428971.1XP_047284927.1  periphilin-1 isoform X7

    7. XM_017019443.1XP_016874932.1  periphilin-1 isoform X9

      UniProtKB/TrEMBL
      B7Z695
    8. XM_047428973.1XP_047284929.1  periphilin-1 isoform X12

    9. XM_017019448.2XP_016874937.1  periphilin-1 isoform X14

      UniProtKB/TrEMBL
      B7Z695
    10. XM_017019451.2XP_016874940.1  periphilin-1 isoform X17

      UniProtKB/TrEMBL
      B7Z695
    11. XM_017019437.3XP_016874926.1  periphilin-1 isoform X3

      UniProtKB/TrEMBL
      B7Z695
    12. XM_017019450.2XP_016874939.1  periphilin-1 isoform X16

      UniProtKB/TrEMBL
      B7Z695
    13. XM_017019440.2XP_016874929.1  periphilin-1 isoform X6

      UniProtKB/TrEMBL
      B7Z695
    14. XM_017019447.2XP_016874936.1  periphilin-1 isoform X13

      UniProtKB/TrEMBL
      B7Z695
    15. XM_017019449.2XP_016874938.1  periphilin-1 isoform X15

      UniProtKB/TrEMBL
      B7Z695
      Conserved Domains (1) summary
      pfam15695
      Location:366401
      HERV-K_REC; Rec (regulator of expression encoded by corf) of HERV-K-113
    16. XM_017019445.3XP_016874934.1  periphilin-1 isoform X11

      UniProtKB/TrEMBL
      B7Z695
    17. XM_017019444.3XP_016874933.1  periphilin-1 isoform X10

      UniProtKB/TrEMBL
      B7Z695
    18. XM_047428974.1XP_047284930.1  periphilin-1 isoform X18

    19. XM_047428975.1XP_047284931.1  periphilin-1 isoform X19

      Related
      ENSP00000338510.6, ENST00000337898.10
    20. XM_017019435.2XP_016874924.1  periphilin-1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      42284102..42406479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372225.1XP_054228200.1  periphilin-1 isoform X4

    2. XM_054372226.1XP_054228201.1  periphilin-1 isoform X5

    3. XM_054372229.1XP_054228204.1  periphilin-1 isoform X8

    4. XM_054372230.1XP_054228205.1  periphilin-1 isoform X9

    5. XM_054372233.1XP_054228208.1  periphilin-1 isoform X12

    6. XM_054372238.1XP_054228213.1  periphilin-1 isoform X17

    7. XM_054372221.1XP_054228196.1  periphilin-1 isoform X1

    8. XM_054372223.1XP_054228198.1  periphilin-1 isoform X2

    9. XM_054372228.1XP_054228203.1  periphilin-1 isoform X7

    10. XM_054372235.1XP_054228210.1  periphilin-1 isoform X14

    11. XM_054372224.1XP_054228199.1  periphilin-1 isoform X3

    12. XM_054372237.1XP_054228212.1  periphilin-1 isoform X16

    13. XM_054372227.1XP_054228202.1  periphilin-1 isoform X6

    14. XM_054372234.1XP_054228209.1  periphilin-1 isoform X13

    15. XM_054372236.1XP_054228211.1  periphilin-1 isoform X15

    16. XM_054372232.1XP_054228207.1  periphilin-1 isoform X11

    17. XM_054372231.1XP_054228206.1  periphilin-1 isoform X10

    18. XM_054372239.1XP_054228214.1  periphilin-1 isoform X18

    19. XM_054372240.1XP_054228215.1  periphilin-1 isoform X19

    20. XM_054372222.1XP_054228197.1  periphilin-1 isoform X1