PTK7 protein tyrosine kinase 7 (inactive) [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTK7provided by HGNC
Official Full Name: protein tyrosine kinase 7 (inactive)provided by HGNC
Primary source: HGNC:HGNC:9618
See related: Ensembl:ENSG00000112655 MIM:601890; AllianceGenome:HGNC:9618
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: CCK4; CCK-4
Summary: This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Expression: Broad expression in endometrium (RPKM 43.5), ovary (RPKM 31.2) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (43076314..43161715)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (42905060..42990493)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (43044052..43129453)

Chromosome 6 - NC_000006.12 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FOXP4-mediated induction of PTK7 activates the Wnt/beta-catenin pathway and promotes ovarian cancer development.
Title: FOXP4-mediated induction of PTK7 activates the Wnt/β-catenin pathway and promotes ovarian cancer development.
Elucidating the Functional Mechanism of PTK7 in Cancer Development through Spatial Assembly Analysis Using Super Resolution Imaging.
Title: Elucidating the Functional Mechanism of PTK7 in Cancer Development through Spatial Assembly Analysis Using Super Resolution Imaging.
Knockdown of PTK7 Reduces the Oncogenic Potential of Breast Cancer Cells by Impeding Receptor Tyrosine Kinase Signaling.
Title: Knockdown of PTK7 Reduces the Oncogenic Potential of Breast Cancer Cells by Impeding Receptor Tyrosine Kinase Signaling.
Proteomic and Phosphoproteomic Analyses Reveal the Oncogenic Role of PTK7-NDRG1 Axis in Non-small-cell Lung Cancer Cell Resistance to AZD9291.
Title: Proteomic and Phosphoproteomic Analyses Reveal the Oncogenic Role of PTK7-NDRG1 Axis in Non-small-cell Lung Cancer Cell Resistance to AZD9291.
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
Title: Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
High expression of protein tyrosine kinase 7 in oral squamous cell carcinoma: Clinicopathological correlation and prognosis relevance.
Title: High expression of protein tyrosine kinase 7 in oral squamous cell carcinoma: Clinicopathological correlation and prognosis relevance.
PTK7, a Catalytically Inactive Receptor Tyrosine Kinase, Increases Oncogenic Phenotypes in Xenograft Tumors of Esophageal Squamous Cell Carcinoma KYSE-30 Cells.
Title: PTK7, a Catalytically Inactive Receptor Tyrosine Kinase, Increases Oncogenic Phenotypes in Xenograft Tumors of Esophageal Squamous Cell Carcinoma KYSE-30 Cells.
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
Title: Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
The Mutational Landscape of PTK7 in Congenital Scoliosis and Adolescent Idiopathic Scoliosis.
Title: The Mutational Landscape of PTK7 in Congenital Scoliosis and Adolescent Idiopathic Scoliosis.
LncRNA-MALAT1 regulates proliferation and apoptosis of acute lymphoblastic leukemia cells via miR-205-PTK7 pathway.
Title: LncRNA-MALAT1 regulates proliferation and apoptosis of acute lymphoblastic leukemia cells via miR-205-PTK7 pathway.

Submit: New GeneRIF Correction See all GeneRIFs (57)

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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Markers

STS-R52053 (e-PCR)
- UniSTS:61442

WI-5149 (e-PCR)
- UniSTS:8726

D6S1883 (e-PCR)
- UniSTS:58439

RH12355 (e-PCR)
- UniSTS:77156

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-156006 (e-PCR)
- UniSTS:185264

D6S1582 (e-PCR)
- UniSTS:36017

GDB:335751 (e-PCR)
- UniSTS:156601

RH103422 (e-PCR)
- UniSTS:97747

RH37456 (e-PCR)
- UniSTS:53499

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables axon guidance receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables coreceptor activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axis elongation	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to retinoic acid	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cochlea morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in convergent extension	IEA Inferred from Electronic Annotation more info
involved_in coronary vasculature development	IEA Inferred from Electronic Annotation more info
involved_in establishment of epithelial cell apical/basal polarity	IEA Inferred from Electronic Annotation more info
involved_in establishment of planar polarity	IEA Inferred from Electronic Annotation more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in lung-associated mesenchyme development	IEA Inferred from Electronic Annotation more info
involved_in neural tube closure	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in synapse organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular septum development	IEA Inferred from Electronic Annotation more info
involved_in wound healing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	PubMed
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: inactive tyrosine-protein kinase 7

Names: PTK7 protein tyrosine kinase 7; colon carcinoma kinase 4; pseudo tyrosine kinase receptor 7; tyrosine-protein kinase-like 7

NP_001257327.1

EC 2.7.10.1

NP_002812.2

EC 2.7.10.1

NP_690619.1

EC 2.7.10.1

NP_690620.1

EC 2.7.10.1

NP_690621.1

EC 2.7.10.1

XP_011513067.1

EC 2.7.10.1

XP_011513068.1

EC 2.7.10.1

XP_047275113.1

EC 2.7.10.1

XP_054212039.1

EC 2.7.10.1

XP_054212040.1

EC 2.7.10.1

XP_054212041.1

EC 2.7.10.1

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_001270398.2 → NP_001257327.1 inactive tyrosine-protein kinase 7 isoform e

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 PTK7-1. The encoded isoform (e) is longer and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AI140260, AK291016, AK296953, BQ881986, CN266652

Consensus CDS

CCDS59021.1

UniProtKB/Swiss-Prot

Q13308

Related

ENSP00000418754.1, ENST00000481273.5

Conserved Domains (9) summary

cd05046
Location:798 → 1071

PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4

cd00096
Location:250 → 310

Ig; Immunoglobulin domain

cd05760
Location:154 → 230

Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4

smart00408
Location:613 → 677

IGc2; Immunoglobulin C-2 Type

smart00221
Location:809 → 1069

STYKc; Protein kinase; unclassified specificity

smart00409
Location:348 → 416

IG; Immunoglobulin

smart00410
Location:606 → 689

IG_like; Immunoglobulin like

pfam07679
Location:420 → 506

I-set; Immunoglobulin I-set domain

cl11960
Location:422 → 506

Ig; Immunoglobulin domain
NM_002821.5 → NP_002812.2 inactive tyrosine-protein kinase 7 isoform a precursor

See identical proteins and their annotated locations for NP_002812.2

Status: REVIEWED

Description

Transcript Variant: This variant (PTK7-1) represents the longest transcript and encodes isoform a.

Source sequence(s)

AF531868, AI140260, AK291016, CA389442

Consensus CDS

CCDS4884.1

UniProtKB/Swiss-Prot

A8K974, B7Z477, E9PFZ5, Q13308, Q13417, Q5T650, Q6IQ54, Q8NFA5, Q8NFA6, Q8NFA7, Q8NFA8

Related

ENSP00000230419.4, ENST00000230419.9

Conserved Domains (8) summary

cd05046
Location:790 → 1063

PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4

cd00096
Location:242 → 302

Ig; Immunoglobulin domain

cd05760
Location:146 → 222

Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4

smart00408
Location:605 → 669

IGc2; Immunoglobulin C-2 Type

smart00221
Location:801 → 1061

STYKc; Protein kinase; unclassified specificity

smart00410
Location:598 → 681

IG_like; Immunoglobulin like

pfam07679
Location:412 → 498

I-set; Immunoglobulin I-set domain

cl11960
Location:414 → 498

Ig; Immunoglobulin domain
NM_152880.4 → NP_690619.1 inactive tyrosine-protein kinase 7 isoform b precursor

See identical proteins and their annotated locations for NP_690619.1

Status: REVIEWED

Description

Transcript Variant: This variant (PTK7-2) lacks an exon in the coding region, but maintains the reading frame, compared to variant PTK7-1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AF531869, AI140260, AK291016, CA389442

Consensus CDS

CCDS4885.1

UniProtKB/Swiss-Prot

Q13308

Related

ENSP00000325992.4, ENST00000345201.6

Conserved Domains (9) summary

cd05046
Location:750 → 1023

PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4

cd00096
Location:242 → 302

Ig; Immunoglobulin domain

cd05760
Location:146 → 222

Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4

smart00408
Location:565 → 629

IGc2; Immunoglobulin C-2 Type

smart00221
Location:761 → 1021

STYKc; Protein kinase; unclassified specificity

smart00409
Location:231 → 301

IG; Immunoglobulin

smart00410
Location:558 → 641

IG_like; Immunoglobulin like

pfam07679
Location:412 → 498

I-set; Immunoglobulin I-set domain

cl11960
Location:414 → 498

Ig; Immunoglobulin domain
NM_152881.4 → NP_690620.1 inactive tyrosine-protein kinase 7 isoform c precursor

See identical proteins and their annotated locations for NP_690620.1

Status: REVIEWED

Description

Transcript Variant: This variant (PTK7-3) lacks three consecutive exons in the coding region, but maintains the reading frame, compared to variant PTK7-1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AF531870, AI140260, AK291016, CA389442

Consensus CDS

CCDS4886.1

UniProtKB/Swiss-Prot

Q13308

Related

ENSP00000325462.4, ENST00000349241.6

Conserved Domains (6) summary

cd05046
Location:660 → 933

PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4

cd00096
Location:242 → 302

Ig; Immunoglobulin domain

cd05760
Location:146 → 222

Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4

smart00408
Location:475 → 539

IGc2; Immunoglobulin C-2 Type

smart00221
Location:671 → 931

STYKc; Protein kinase; unclassified specificity

smart00410
Location:468 → 551

IG_like; Immunoglobulin like
NM_152882.4 → NP_690621.1 inactive tyrosine-protein kinase 7 isoform d precursor

See identical proteins and their annotated locations for NP_690621.1

Status: REVIEWED

Description

Transcript Variant: This variant (PTK7-4) uses an alternate splice site and lacks an exon in the coding region, but maintains the reading frame, compared to variant PTK7-1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AF531871, AI140260, AK291016, CA389442

Consensus CDS

CCDS4887.1

UniProtKB/Swiss-Prot

Q13308

Related

ENSP00000326029.3, ENST00000352931.6

Conserved Domains (9) summary

cd05046
Location:734 → 1007

PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4

cd00096
Location:242 → 302

Ig; Immunoglobulin domain

cd05760
Location:146 → 222

Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4

smart00408
Location:520 → 574

IGc2; Immunoglobulin C-2 Type

smart00221
Location:745 → 1005

STYKc; Protein kinase; unclassified specificity

smart00409
Location:231 → 301

IG; Immunoglobulin

smart00410
Location:38 → 112

IG_like; Immunoglobulin like

pfam07679
Location:412 → 498

I-set; Immunoglobulin I-set domain

cl11960
Location:414 → 498

Ig; Immunoglobulin domain

RNA

NR_072997.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks an internal exon, compared to variant PTK7-1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant PTK7-1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC014626, CA389442, DA048438

Related

ENST00000470019.5
NR_072998.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (PTK7-5) lacks an internal exon, compared to variant PTK7-1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant PTK7-1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF531872, AI140260, AK291016, CA389442

Related

ENST00000230418.8

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

43076314..43161715

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514765.3 → XP_011513067.1 inactive tyrosine-protein kinase 7 isoform X1

Conserved Domains (9) summary

cd05046
Location:758 → 1031

PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4

cd00096
Location:250 → 310

Ig; Immunoglobulin domain

cd05760
Location:154 → 230

Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4

smart00408
Location:573 → 637

IGc2; Immunoglobulin C-2 Type

smart00221
Location:769 → 1029

STYKc; Protein kinase; unclassified specificity

smart00409
Location:239 → 309

IG; Immunoglobulin

smart00410
Location:566 → 649

IG_like; Immunoglobulin like

pfam07679
Location:420 → 506

I-set; Immunoglobulin I-set domain

cl11960
Location:422 → 506

Ig; Immunoglobulin domain
XM_011514766.3 → XP_011513068.1 inactive tyrosine-protein kinase 7 isoform X2

Conserved Domains (6) summary

cd05046
Location:668 → 941

PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4

cd00096
Location:250 → 310

Ig; Immunoglobulin domain

cd05760
Location:154 → 230

Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4

smart00408
Location:483 → 547

IGc2; Immunoglobulin C-2 Type

smart00221
Location:679 → 939

STYKc; Protein kinase; unclassified specificity

smart00410
Location:476 → 559

IG_like; Immunoglobulin like
XM_047419157.1 → XP_047275113.1 inactive tyrosine-protein kinase 7 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

42905060..42990493

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356064.1 → XP_054212039.1 inactive tyrosine-protein kinase 7 isoform X1
XM_054356065.1 → XP_054212040.1 inactive tyrosine-protein kinase 7 isoform X2
XM_054356066.1 → XP_054212041.1 inactive tyrosine-protein kinase 7 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152883.1: Suppressed sequence

Description

NM_152883.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.