DMKN dermokine [Homo sapiens (human)] - Gene

Summary

Official Symbol: DMKNprovided by HGNC
Official Full Name: dermokineprovided by HGNC
Primary source: HGNC:HGNC:25063
See related: Ensembl:ENSG00000161249 MIM:617211; AllianceGenome:HGNC:25063
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: UNQ729; ZD52F10
Summary: This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
Expression: Biased expression in skin (RPKM 387.3) and esophagus (RPKM 47.0) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35497220..35513649, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38041938..38058366, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (35988122..36004551, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

we showed that DMKN loss of function in Patu-8988 and PANC-1 pancreatic cancer cell lines resulted in reduced phosphorylation of STAT3.these data suggested that DMKN could be a potential prognostic biomarker and therapeutic target in pancreatic cancer.
Title: Dermokine contributes to epithelial-mesenchymal transition through increased activation of signal transducer and activator of transcription 3 in pancreatic cancer.
These results suggest that dermokine-beta delays early cutaneous wound healing in part by inhibiting expression of CXC chemokines containing the ERL-sequence motif.
Title: Dermokine inhibits ELR(+)CXC chemokine expression and delays early skin wound healing.
Serum DK is a potential biomarker in intraductal papillary mucinous neoplasm and invasive ductal carcinoma, when used in combination with conventional biomarkers.
Title: Dermokine expression in intraductal papillary-mucinous neoplasm and invasive pancreatic carcinoma.
Dermokine-beta impairs ERK signaling through direct binding to GRP78
Title: Dermokine-β impairs ERK signaling through direct binding to GRP78.
Dmkndelta activates Rab5 function and thus is involved in the early endosomal trafficking.
Title: The ubiquitous dermokine delta activates Rab5 function in the early endocytic pathway.
Dermokine gene is expressed in epithelial tissues other than the skin and this expression is transcriptionally and posttranscriptionally complex.
Title: Dermokine: an extensively differentially spliced gene expressed in epithelial cells.
Analysis of alternative spliced transcripts produced from the dermokine gene.
Title: The human dermokine gene: description of novel isoforms with different tissue-specific expression and subcellular location.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cornified envelope assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: dermokine

Names: epidermis-specific secreted protein SK30/SK89

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)

NM_001035516.4 → NP_001030593.2 dermokine isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (1, also referred to as isoform alpha) has a distinct N-terminus and is shorter than isoform 2.

Source sequence(s)

AD001502

Consensus CDS

CCDS42549.1

UniProtKB/TrEMBL

M0R1M0

Related

ENSP00000386225.2, ENST00000408915.6
NM_001126056.3 → NP_001119528.3 dermokine isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon and contains three additional alternate in-frame exons in the coding region, compared to variant 2. This results in a shorter protein (isoform 3, also referred to as isoform beta-2), compared to isoform 2.

Source sequence(s)

AC138125, AD001502

Consensus CDS

CCDS46054.2

Related

ENSP00000391036.1, ENST00000419602.5
NM_001126057.3 → NP_001119529.2 dermokine isoform 5 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (5, also referred to as isoform gamma 2) has a distinct C-terminus and is shorter than isoform 2.

Source sequence(s)

AC138125, AY358412, AY789697

Consensus CDS

CCDS46053.1

UniProtKB/Swiss-Prot

Q6E0U4

Related

ENSP00000388404.2, ENST00000424570.6
NM_001126058.3 → NP_001119530.2 dermokine isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (4, also referred to as isoform gamma 1) has a distinct C-terminus and is shorter than isoform 2.

Source sequence(s)

AC138125, AY358412, AY789696

Consensus CDS

CCDS46052.1

UniProtKB/Swiss-Prot

Q6E0U4

Related

ENSP00000414743.1, ENST00000418261.5
NM_001126059.4 → NP_001119531.2 dermokine isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (6, also referred to as isoform delta) has a distinct N-terminus and is shorter than isoform 2.

Source sequence(s)

AD001502

Consensus CDS

CCDS46051.1

Related

ENSP00000392222.2, ENST00000414866.6
NM_001190347.2 → NP_001177276.2 dermokine isoform 8 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks an alternate in-frame exon and contains two additional alternate in-frame exons in the coding region, compared to variant 2. This results in a shorter protein (isoform 8, also referred to as isoform beta-1), compared to isoform 2.

Source sequence(s)

AC138125, AD001502

Consensus CDS

CCDS54250.1

Related

ENSP00000405503.1, ENST00000429837.5
NM_001190348.2 → NP_001177277.1 dermokine isoform 9 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (9) has multiple difference compared to variant 2. This variant encodes isoform 9, which is shorter than isoform 2.

Source sequence(s)

AC138125, AY358412, AY789697, EF158326

Consensus CDS

CCDS54252.1

UniProtKB/Swiss-Prot

Q6E0U4

UniProtKB/TrEMBL

A3EZ84

Related

ENSP00000394908.2, ENST00000447113.6
NM_001190349.2 → NP_001177278.1 dermokine isoform 10 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (10) has multiple difference compared to variant 2. This variant encodes isoform 10 (also referred to as isoform gamma 1), which is shorter than isoform 2.

Source sequence(s)

AC138125, AY358412, AY789697

Consensus CDS

CCDS54251.1

UniProtKB/Swiss-Prot

Q6E0U4

Related

ENSP00000409513.2, ENST00000451297.6
NM_001308380.2 → NP_001295309.2 dermokine isoform 11

Status: REVIEWED

Description

Transcript Variant: This variant (11) differs in the 5' UTR and has multiple coding region differences, one of which results in use of an alternate start codon and novel 5' coding region compared to variant 2. It encodes isoform 11, which is shorter than and has a distinct N-terminus compared to isoform 2.

Source sequence(s)

AD001502

Consensus CDS

CCDS77279.1

UniProtKB/TrEMBL

C9JCN1, H7BZ95

Related

ENSP00000384509.2, ENST00000402589.6
NM_001308383.2 → NP_001295312.2 dermokine isoform 12

Status: REVIEWED

Description

Transcript Variant: This variant (12) differs in the 5' UTR and has multiple coding region differences, one of which results in use of an alternate start codon and novel 5' coding region compared to variant 2. It encodes isoform 12, which is shorter than and has a distinct N-terminus compared to isoform 2.

Source sequence(s)

AD001502

Consensus CDS

CCDS77278.1

UniProtKB/TrEMBL

C9J186

Related

ENSP00000412075.1, ENST00000436012.5
NM_001352328.2 → NP_001339257.2 dermokine isoform 13

Status: REVIEWED

Source sequence(s)

AD001502
NM_001352329.2 → NP_001339258.2 dermokine isoform 14

Status: REVIEWED

Source sequence(s)

AD001502

Consensus CDS

CCDS86745.1

UniProtKB/TrEMBL

S4R3L7

Related

ENSP00000473341.2, ENST00000472252.6
NM_001352330.2 → NP_001339259.2 dermokine isoform 14

Status: REVIEWED

Source sequence(s)

AD001502

Consensus CDS

CCDS86745.1

UniProtKB/TrEMBL

S4R3L7
NM_001352331.2 → NP_001339260.1 dermokine isoform 15

Status: REVIEWED

Source sequence(s)

CD174636, CD388805, EF158325

Consensus CDS

CCDS86747.1

UniProtKB/TrEMBL

C9J3V3, E9PAQ7

Related

ENSP00000376042.2, ENST00000392206.6
NM_001352332.2 → NP_001339261.1 dermokine isoform 16

Status: REVIEWED

Source sequence(s)

CD388805

Consensus CDS

CCDS86746.1

UniProtKB/TrEMBL

M0R3F8

Related

ENSP00000473191.1, ENST00000488892.5
NM_033317.5 → NP_201574.4 dermokine isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2, also referred to as isoform beta).

Source sequence(s)

AC138125, AD001502

Consensus CDS

CCDS12463.1

UniProtKB/Swiss-Prot

A3EZ79, A3EZ80, A3EZ81, A3EZ82, A3EZ83, C9J4P6, C9J5N8, C9JAL3, Q32W58, Q32W62, Q32W63, Q32W64, Q32W65, Q32W66, Q32W67, Q6E0U4, Q6E0U5, Q6UXC7, Q96EW8, Q9BSY6

Related

ENSP00000342012.3, ENST00000339686.8

RNA

NR_033746.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs at its 5' end compared to variant 2. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF compared to variant 2; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AD001502

Related

ENST00000462721.5
NR_147958.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

CD173452, EF158325

Related

ENST00000480507.1
NR_147959.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AD001502