ENKUR enkurin, TRPC channel interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: ENKURprovided by HGNC
Official Full Name: enkurin, TRPC channel interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:28388
See related: Ensembl:ENSG00000151023 MIM:611025; AllianceGenome:HGNC:28388
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: CFAP106; C10orf63
Summary: This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Expression: Biased expression in brain (RPKM 2.4), testis (RPKM 1.9) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (24981985..25062327, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (25000242..25080555, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (25270914..25351256, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Enkurin: a novel marker for myeloproliferative neoplasms from platelet, megakaryocyte, and whole blood specimens.
Title: Enkurin: a novel marker for myeloproliferative neoplasms from platelet, megakaryocyte, and whole blood specimens.
ENKUR expression induced by chemically synthesized cinobufotalin suppresses malignant activities of hepatocellular carcinoma by modulating beta-catenin/c-Jun/MYH9/USP7/c-Myc axis.
Title: ENKUR expression induced by chemically synthesized cinobufotalin suppresses malignant activities of hepatocellular carcinoma by modulating β-catenin/c-Jun/MYH9/USP7/c-Myc axis.
Decreased ENKUR expression is associated with Colorectal Cancer.
Title: ENKUR Is Involved in the Regulation of Cellular Biology in Colorectal Cancer Cells via PI3K/Akt Signaling Pathway.
Data suggest that enkurin is an adaptor that functions to localize a Ca2+ sensitive signal transduction machinery in sperm to a Ca2+-permeable ion channel [enkurin]
Title: Enkurin is a novel calmodulin and TRPC channel binding protein in sperm.

Submit: New GeneRIF Correction

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 SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in establishment of left/right asymmetry	IDA Inferred from Direct Assay more info	PubMed
involved_in flagellated sperm motility	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in 9+0 motile cilium	IEA Inferred from Electronic Annotation more info
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in acrosomal vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in axonemal B tubule inner sheath	IEA Inferred from Electronic Annotation more info
located_in axonemal microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm principal piece	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: enkurin

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_001270383.2 → NP_001257312.1 enkurin isoform 2

Status: REVIEWED

Description

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

Source sequence(s)

AK095021, AL512598, BM979174

Consensus CDS

CCDS73075.1

UniProtKB/TrEMBL

A0A087WUX1

Related

ENSP00000478989.1, ENST00000615958.4

Conserved Domains (1) summary

pfam13864
Location:90 → 184

Enkurin; Calmodulin-binding
NM_145010.4 → NP_659447.1 enkurin isoform 1

See identical proteins and their annotated locations for NP_659447.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AK095021, AL512598, BC026165, BM979174

Consensus CDS

CCDS7146.1

UniProtKB/Swiss-Prot

A8K8Y0, D3DRV2, Q8TC29

UniProtKB/TrEMBL

Q5VV23

Related

ENSP00000331044.4, ENST00000331161.9

Conserved Domains (1) summary

pfam13864
Location:152 → 246

Enkurin; Calmodulin-binding

RNA

NR_072992.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate segment in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL512598, BC026165, BM979174
NR_072993.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK095021, AL512598, BC026165, BM979174, DA285403