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PPHLN1 periphilin 1 [ Homo sapiens (human) ]

Gene ID: 51535, updated on 6-Nov-2022

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
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Genomic context

See PPHLN1 in Genome Data Viewer
Location:
12q12
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (42326167..42448621)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (42284102..42406479)
105.20220307 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 zinc finger CCHC-type and RNA binding motif containing 1 Neighboring gene microRNA 7851 Neighboring gene RNA, U6 small nuclear 249, pseudogene Neighboring gene FMR1 autosomal homolog 1 pseudogene Neighboring gene prickle planar cell polarity protein 1 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
  • 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

Homology

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
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
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/Swiss-Prot
    Q8NEY8
    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/Swiss-Prot
    Q8NEY8
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    Q8NEY8, Q9P0R9
    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/Swiss-Prot
    Q8NEY8
    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/Swiss-Prot
    Q8NEY8
    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/Swiss-Prot
    Q8NEY8
    Related
    ENSP00000378947.3, ENST00000395580.7
    Conserved Domains (1) summary
    pfam11488
    Location:286358
    Lge1; Transcriptional regulatory protein LGE1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    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

  4. XM_017019439.1XP_016874928.1  periphilin-1 isoform X5

  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

  8. XM_047428973.1XP_047284929.1  periphilin-1 isoform X12

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

  10. XM_017019451.2XP_016874940.1  periphilin-1 isoform X17

  11. XM_017019437.3XP_016874926.1  periphilin-1 isoform X3

  12. XM_017019450.2XP_016874939.1  periphilin-1 isoform X16

  13. XM_017019440.2XP_016874929.1  periphilin-1 isoform X6

  14. XM_017019447.2XP_016874936.1  periphilin-1 isoform X13

  15. XM_017019449.2XP_016874938.1  periphilin-1 isoform X15

    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

  17. XM_017019444.3XP_016874933.1  periphilin-1 isoform X10

  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)